The Drug Abuse Screening Test preserves its excellent psychometric properties in psychiatric patients evaluated in an emergency setting.

PubMed

Giguère, Charles-Édouard; Potvin, Stéphane

2017-01-01

Substance use disorders (SUDs) are significant risk factors for psychiatric relapses and hospitalizations in psychiatric populations. Unfortunately, no instrument has been validated for the screening of SUDs in psychiatric emergency settings. The Drug Abuse Screening Test (DAST) is widely used in the addiction field, but is has not been validated in that particular context. The objective of the current study is to examine the psychometric properties of the DAST administered to psychiatric populations evaluated in an emergency setting. The DAST was administered to 912 psychiatric patients in an emergency setting, of which 119 had a SUD (excluding those misusing alcohol only). The internal consistency, the construct validity, the test-retest reliability and the predictive validity (using SUD diagnoses) of the DAST were examined. The convergent validity was also examined, using a validated impulsivity scale. Regarding the internal consistency of the DAST, the Cronbach's alpha was 0.88. The confirmatory factor analysis showed that the DAST has one underlying factor. The test-retest reliability analysis produced a correlation coefficient of 0.86. ROC curve analyses produced an area under the curve of 0.799. Interestingly, a sex effect was observed. Finally, the convergent validity analysis showed that the DAST total score is specifically correlated with the sensation seeking dimension of impulsivity. The results of this validation study shows that the DAST preserves its excellent psychometric properties in psychiatric populations evaluated in an emergency setting. These results should encourage the use of the DAST in this unstable clinical situation. Copyright © 2016 Elsevier Ltd. All rights reserved.

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

PubMed

Ozer, Suzan; Uluşahin, Aylin; Ulusoy, Semra; Okur, Hamza; Coşkun, Turgay; Tuncali, Timur; Göğüş, Ahmet; Akarsu, A Nurten

2004-03-01

The vitamin D hypothesis of schizophrenia is a recent concept bringing together old observations on environmental risk factors and new findings on the neurodevelopmental effects of vitamin D. Candidate genes related to the vitamin D endocrine system have not yet been fully explored for this purpose. The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the presumed relationship between vitamin D deficiency and psychosis. Psychiatric examination and molecular genetic studies were performed in this family overloaded with psychotic disorders and VDDR IIA. Forty members were evaluated in order to describe their phenotypic features. The family was tested for a linkage to the chromosome 12q12-q14 region where the vitamin D receptor (VDR) gene is located. Psychosis was the common phenotype in the 18 psychiatrically affected members. Pedigree analysis did not show a cosegregation of psychosis and rickets. Lod scores were not significant to prove a linkage between psychosis and VDR locus. The authors concluded that (1) the neurodevelopmental consequences of vitamin D deficiency do not play a causative role in psychotic disorders, (2) these two syndromes are inherited independently, and (3) vitamin D deficiency does not act as a risk factor in subjects susceptible to psychosis.

Validation of the Impulsive/Premeditated Aggression Scale in Mexican psychiatric patients.

PubMed

Romans, Laura; Fresán, Ana; Sentíes, Héctor; Sarmiento, Emmanuel; Berlanga, Carlos; Robles-García, Rebeca; Tovilla-Zarate, Carlos-Alfonso

2015-07-01

Aggression has been linked to several psychiatric disorders. None of the available instruments validated in Mexico is able to classify aggression as impulsive or premeditated. The Impulsive/Premeditated Aggression Scale (IPAS) is a self-report instrument designed to characterize aggressiveness as predominately impulsive or premeditated. The aim of the study was to determine the validity and reliability of the IPAS in a sample of Mexican psychiatric patients. A total of 163 patients diagnosed with affective, anxiety or psychotic disorder were included. A principal-component factor analysis was performed to obtain construct validity of the IPAS impulsive and premeditated aggression subscales; convergent validity as well as internal consistency of subscales were also determined. The rotated matrix accounted for 33.4% of the variance. Significant values were obtained for convergent validity and reliability of the IPAS subscales. The IPAS is an adequate instrument, which might be used to differentiate the type of aggressive behavior in Mexican psychiatric patients.

Psychiatric symptoms and CAG expansion in Huntington`s disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Weber, M.W.; Schmid, W.; Spiegel, R.

1996-02-16

The mutation responsible for Huntington`s disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inverse correlation between CAG copy number and age at disease onset has been found in a large number of affected individuals. The influence of the CAG repeat expansion on other phenotypic manifestations, especially specific psychiatric symptoms has not been studied intensively. In order to elucidate this situation we investigated the relation between CAG copy number and distinct psychiatric phenotypes found inmore » 79 HD-patients. None of the four differentiated categories (personality change, psychosis, depression, and nonspecific alterations) showed significant differences in respect to size of the CAG expansion. In addition, no influence of individual sex on psychiatric presentation could be found. On the other hand in patients with personality changes maternal transmission was significantly more frequent compared with all other groups. Therefore we suggest that clinical severity of psychiatric features in HD is not directly dependent on the size of the dynamic mutation involved. The complex pathogenetic mechanisms leading to psychiatric alterations are still unknown and thus genotyping does not provide information about expected psychiatric symptoms in HD gene carriers. 40 refs., 1 fig., 2 tabs.« less

MAOA Variants and Genetic Susceptibility to Major Psychiatric Disorders.

PubMed

Liu, Zichao; Huang, Liang; Luo, Xiong-Jian; Wu, Lichuan; Li, Ming

2016-09-01

Monoamine oxidase A (MAOA) is a mitochondrial enzyme involved in the metabolism of several biological amines such as dopamine, norepinephrine, and serotonin, which are important neurochemicals in the pathogenesis of major psychiatric illnesses. MAOA is regarded as a functional plausible susceptibility gene for psychiatric disorders, whereas previous hypothesis-driven association studies obtained controversial results, a reflection of small sample size, genetic heterogeneity, or true negative associations. In addition, MAOA is not analyzed in most of genome-wide association studies (GWAS) on psychiatric disorders, since it is located on Chromosome Xp11.3. Therefore, the effects of MAOA variants on genetic predisposition to psychiatric disorders remain obscure. To fill this gap, we collected psychiatric phenotypic (schizophrenia, bipolar disorder, and major depressive disorder) and genetic data in up to 18,824 individuals from diverse ethnic groups. We employed classical fixed (or random) effects inverse variance weighted methods to calculate summary odds ratios (OR) and 95 % confidence intervals (CI). We identified a synonymous SNP rs1137070 showing significant associations with major depressive disorder (p = 0.00067, OR = 1.263 for T allele) and schizophrenia (p = 0.0039, OR = 1.225 for T allele) as well as a broad spectrum of psychiatric phenotype (p = 0.000066, OR = 1.218 for T allele) in both males and females. The effect size was similar between different ethnic populations and different gender groups. Collectively, we confirmed that MAOA is a risk gene for psychiatric disorders, and our results provide useful information toward a better understanding of genetic mechanism involving MAOA underlying risk of complex psychiatric disorders.

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

PubMed Central

Viñas-Jornet, Marina; Esteba-Castillo, Susanna; Gabau, Elisabeth; Ribas-Vidal, Núria; Baena, Neus; San, Joan; Ruiz, Anna; Coll, Maria Dolors; Novell, Ramon; Guitart, Miriam

2014-01-01

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance. PMID:25614873

Inoculation Stress Hypothesis of Environmental Enrichment

PubMed Central

Crofton, Elizabeth J.; Zhang, Yafang; Green, Thomas A.

2014-01-01

One hallmark of psychiatric conditions is the vast continuum of individual differences in susceptibility vs. resilience resulting from the interaction of genetic and environmental factors. The environmental enrichment paradigm is an animal model that is useful for studying a range of psychiatric conditions, including protective phenotypes in addiction and depression models. The major question is how environmental enrichment, a non-drug and non-surgical manipulation, can produce such robust individual differences in such a wide range of behaviors. This paper draws from a variety of published sources to outline a coherent hypothesis of inoculation stress as a factor producing the protective enrichment phenotypes. The basic tenet suggests that chronic mild stress from living in a complex environment and interacting non-aggressively with conspecifics can inoculate enriched rats against subsequent stressors and/or drugs of abuse. This paper reviews the enrichment phenotypes, mulls the fundamental nature of environmental enrichment vs. isolation, discusses the most appropriate control for environmental enrichment, and challenges the idea that cortisol/corticosterone equals stress. The intent of the inoculation stress hypothesis of environmental enrichment is to provide a scaffold with which to build testable hypotheses for the elucidation of the molecular mechanisms underlying these protective phenotypes and thus provide new therapeutic targets to treat psychiatric/neurological conditions. PMID:25449533

Inoculation stress hypothesis of environmental enrichment.

PubMed

Crofton, Elizabeth J; Zhang, Yafang; Green, Thomas A

2015-02-01

One hallmark of psychiatric conditions is the vast continuum of individual differences in susceptibility vs. resilience resulting from the interaction of genetic and environmental factors. The environmental enrichment paradigm is an animal model that is useful for studying a range of psychiatric conditions, including protective phenotypes in addiction and depression models. The major question is how environmental enrichment, a non-drug and non-surgical manipulation, can produce such robust individual differences in such a wide range of behaviors. This paper draws from a variety of published sources to outline a coherent hypothesis of inoculation stress as a factor producing the protective enrichment phenotypes. The basic tenet suggests that chronic mild stress from living in a complex environment and interacting non-aggressively with conspecifics can inoculate enriched rats against subsequent stressors and/or drugs of abuse. This paper reviews the enrichment phenotypes, mulls the fundamental nature of environmental enrichment vs. isolation, discusses the most appropriate control for environmental enrichment, and challenges the idea that cortisol/corticosterone equals stress. The intent of the inoculation stress hypothesis of environmental enrichment is to provide a scaffold with which to build testable hypotheses for the elucidation of the molecular mechanisms underlying these protective phenotypes and thus provide new therapeutic targets to treat psychiatric/neurological conditions. Copyright © 2014 Elsevier Ltd. All rights reserved.

The Relationship of Hypochondriasis to Anxiety, Depressive, and Somatoform Disorders

PubMed Central

Scarella, Timothy M.; Laferton, Johannes A. C.; Ahern, David K.; Fallon, Brian A.; Barsky, Arthur

2015-01-01

Background Though the phenotype of anxiety about medical illness has long been recognized, there continues to be debate as to whether it is a distinct psychiatric disorder and, if so, to which diagnostic category it belongs. Our objective was to investigate the pattern of psychiatric co-morbidity in hypochondriasis and to assess the relationship of health anxiety to anxiety, depressive, and somatoform disorders. Methods Data were collected as part of a clinical trial on treatment methods for hypochondriasis. 194 participants meeting criteria for DSM-IV hypochondriasis were assessed by sociodemographic variables, results of structured diagnostic interviews, and validated instruments for assessing various symptom dimensions of psychopathology. Results The majority of individuals with hypochondriasis had co-morbid psychiatric illness; the mean number of co-morbid diagnoses was 1.4, and 35.1% had hypochondriasis as their only diagnosis. Participants were more likely to have only co-morbid anxiety disorders than only co-morbid depressive or somatoform disorders. Multiple regression analysis of continuous measures of symptoms revealed the strongest correlation of health anxiety with anxiety symptoms, and a weaker correlation with somatoform symptoms; in multiple regression analysis, there was no correlation between health anxiety and depressive symptoms. Conclusion Our findings suggest that the entity of health anxiety (Hypochondriasis in DSM-IV, Illness Anxiety Disorder in DSM-5) is a clinical syndrome distinct from other psychiatric disorders. Analysis of co-morbidity patterns and continuous measures of symptoms suggest its appropriate classification is with anxiety rather than somatoform or mood disorders. PMID:26785798

Validation and adaptation of the Norwegian version of Hayes Ability Screening Index for intellectual difficulties in a psychiatric sample.

PubMed

Søndenaa, Erik; Nygård, Øyvind; Nøttestad, Jim Aage; Linaker, Olav Martin

2011-02-01

Intellectual disabilities (ID) among psychiatric patients have traditionally been neglected. A lack of convenient instruments and competency in ID may have worsened the conditions and treatment availability for these patients. Validation and adaptation of a screening instrument for ID (Hayes Ability Screening Index; HASI) in a psychiatric hospital setting. This is a cross-sectional study of 50 psychiatric patients in two Norwegian psychiatric hospitals comparing results of the HASI with the Wechsler Abbreviated Scale of Intelligence (WASI). The HASI correlated well with the standard IQ test used (r= 0.67, P< 0.001). At a stated cut-off score of 85, the HASI had a sensitivity of 100% and specificity of 34%. The HASI is a valid and time-saving screening instrument for ID among psychiatric patients. The prescribed cut-off score, however, resulted in a large number of false positives.

Genetic mouse models relevant to schizophrenia: taking stock and looking forward.

PubMed

Harrison, Paul J; Pritchett, David; Stumpenhorst, Katharina; Betts, Jill F; Nissen, Wiebke; Schweimer, Judith; Lane, Tracy; Burnet, Philip W J; Lamsa, Karri P; Sharp, Trevor; Bannerman, David M; Tunbridge, Elizabeth M

2012-03-01

Genetic mouse models relevant to schizophrenia complement, and have to a large extent supplanted, pharmacological and lesion-based rat models. The main attraction is that they potentially have greater construct validity; however, they share the fundamental limitations of all animal models of psychiatric disorder, and must also be viewed in the context of the uncertain and complex genetic architecture of psychosis. Some of the key issues, including the choice of gene to target, the manner of its manipulation, gene-gene and gene-environment interactions, and phenotypic characterization, are briefly considered in this commentary, illustrated by the relevant papers reported in this special issue. Copyright © 2011 Elsevier Ltd. All rights reserved.

Age-Dependent Pleiotropy Between General Cognitive Function and Major Psychiatric Disorders.

PubMed

Hill, W David; Davies, Gail; Liewald, David C; McIntosh, Andrew M; Deary, Ian J

2016-08-15

General cognitive function predicts psychiatric illness across the life course. This study examines the role of pleiotropy in explaining the link between cognitive function and psychiatric disorder. We used two large genome-wide association study data sets on cognitive function-one from older age, n = 53,949, and one from childhood, n = 12,441. We also used genome-wide association study data on educational attainment, n = 95,427, to examine the validity of its use as a proxy phenotype for cognitive function. Using a new method, linkage disequilibrium regression, we derived genetic correlations, free from the confounding of clinical state between psychiatric illness and cognitive function. We found a genetic correlation of .711 (p = 2.26e-12) across the life course for general cognitive function. We also showed a positive genetic correlation between autism spectrum disorder and cognitive function in childhood (rg = .360, p = .0009) and for educational attainment (rg = .322, p = 1.37e-5) but not in older age. In schizophrenia, we found a negative genetic correlation between older age cognitive function (rg = -.231, p = 3.81e-12) but not in childhood or for educational attainment. For Alzheimer's disease, we found negative genetic correlations with childhood cognitive function (rg = -.341, p = .001), educational attainment (rg = -.324, p = 1.15e-5), and with older age cognitive function (rg = -.324, p = 1.78e-5). The pleiotropy exhibited between cognitive function and psychiatric disorders changed across the life course. These age-dependent associations might explain why negative selection has not removed variants causally associated with autism spectrum disorder or schizophrenia. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.

PubMed

Ryan, Niamh M; Lihm, Jayon; Kramer, Melissa; McCarthy, Shane; Morris, Stewart W; Arnau-Soler, Aleix; Davies, Gail; Duff, Barbara; Ghiban, Elena; Hayward, Caroline; Deary, Ian J; Blackwood, Douglas H R; Lawrie, Stephen M; McIntosh, Andrew M; Evans, Kathryn L; Porteous, David J; McCombie, W Richard; Thomson, Pippa A

2018-06-07

Psychiatric disorders are a group of genetically related diseases with highly polygenic architectures. Genome-wide association analyses have made substantial progress towards understanding the genetic architecture of these disorders. More recently, exome- and whole-genome sequencing of cases and families have identified rare, high penetrant variants that provide direct functional insight. There remains, however, a gap in the heritability explained by these complementary approaches. To understand how multiple genetic variants combine to modify both severity and penetrance of a highly penetrant variant, we sequenced 48 whole genomes from a family with a high loading of psychiatric disorder linked to a balanced chromosomal translocation. The (1;11)(q42;q14.3) translocation directly disrupts three genes: DISC1, DISC2, DISC1FP and has been linked to multiple brain imaging and neurocognitive outcomes in the family. Using DNA sequence-level linkage analysis, functional annotation and population-based association, we identified common and rare variants in GRM5 (minor allele frequency (MAF) > 0.05), PDE4D (MAF > 0.2) and CNTN5 (MAF < 0.01) that may help explain the individual differences in phenotypic expression in the family. We suggest that whole-genome sequencing in large families will improve the understanding of the combined effects of the rare and common sequence variation underlying psychiatric phenotypes.

Validation of the Children's Interview for Psychiatric Syndromes (ChIPS) with Psychiatrically Hospitalized Adolescents

ERIC Educational Resources Information Center

Swenson, Lance P.; Esposito-Smythers, Christianne; Hunt, Jeffrey I.; Hollander, Beth L. G.; Dyl, Jennifer; Rizzo, Christie J.; Steinley, Douglas L.; Spirito, Anthony

2007-01-01

A study was conducted to examine the concurrent validity of the Children's Interview for Psychiatric Syndromes (ChIPS) for adolescent inpatients aged 12 to 18. The results reveal moderate agreement between ChIPS diagnoses and Schedule for Affective Disorder sand Schizophrenia for School-Age Children-Present and Lifetime version diagnoses.

Incremental predictive validity of the Addiction Severity Index psychiatric composite score in a consecutive cohort of patients in residential treatment for drug use disorders.

PubMed

Thylstrup, Birgitte; Bloomfield, Kim; Hesse, Morten

2018-01-01

The Addiction Severity Index (ASI) is a widely used assessment instrument for substance abuse treatment that includes scales reflecting current status in seven potential problem areas, including psychiatric severity. The aim of this study was to assess the ability of the psychiatric composite score to predict suicide and psychiatric care after residential treatment for drug use disorders after adjusting for history of psychiatric care. All patients treated for drug use disorders in residential treatment centers in Denmark during the years 2000-2010 with complete ASI data were followed through national registers of psychiatric care and causes of death (N=5825). Competing risks regression analyses were used to assess the incremental predictive validity of the psychiatric composite score, controlling for previous psychiatric care, length of intake, and other ASI composite scores, up to 12years after discharge. A total of 1769 patients received psychiatric care after being discharged from residential treatment (30.3%), and 27 (0.5%) committed suicide. After adjusting for all covariates, psychiatric composite score was associated with a higher risk of receiving psychiatric care after residential treatment (subhazard ratio [SHR]=3.44, p<0.001), and of committing suicide (SHR=11.45, p<0.001). The ASI psychiatric composite score has significant predictive validity and promises to be useful in identifying patients with drug use disorders who could benefit from additional mental health treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

From degeneration to genetic susceptibility, from eugenics to genethics, from Bezugsziffer to LOD score: the history of psychiatric genetics.

PubMed

Schulze, Thomas G; Fangerau, Heiner; Propping, Peter

2004-11-01

Reviewing the history of psychiatric genetics is a difficult task, since--in contrast to genetic research into most other disorders--it cannot simply be done by chronologically listing methodological achievements and major findings. Instead, it necessitates a comprehensive assessment of how the aetiological concept of mental disorders has developed since as early as the world of ancient Greece. Furthermore, it has to touch upon the sensitive issue of the eugenic movement that was closely linked to the study of heredity in mental disorders in the first half of the 20th century and, in Nazi Germany, led to the systematic mass murder of psychiatric patients. Finally, reviewing the scientific dimensions, history of psychiatric genetics is at the same time a walk through the history of complex genetics in general. In our review, we try to pay tribute to this complexity. We argue that psychiatric genetics has not only propelled our understanding of mental disorders but has significantly benefited genetic research into other complex disorders through the development of methodologically robust approaches (e.g., systematic phenotype characterisation, methods to control for ascertainment biases, age-correction). Given the recent reasons for new optimism, i.e., the identification of susceptibility genes for psychiatric phenotypes, a continued methodologically sound approach is needed more than ever to guarantee robust results. Finally, psychiatric genetic research should never again be performed in an environment void of ethical standards.

[Screening for psychiatric risk factors in a facial trauma patients. Validating a questionnaire].

PubMed

Foletti, J M; Bruneau, S; Farisse, J; Thiery, G; Chossegros, C; Guyot, L

2014-12-01

We recorded similarities between patients managed in the psychiatry department and in the maxillo-facial surgical unit. Our hypothesis was that some psychiatric conditions act as risk factors for facial trauma. We had for aim to test our hypothesis and to validate a simple and efficient questionnaire to identify these psychiatric disorders. Fifty-eight consenting patients with facial trauma, recruited prospectively in the 3 maxillo-facial surgery departments of the Marseille area during 3 months (December 2012-March 2013) completed a self-questionnaire based on the French version of 3 validated screening tests (Self Reported Psychopathy test, Rapid Alcohol Problem Screening test quantity-frequency, and Personal Health Questionnaire). This preliminary study confirmed that psychiatric conditions detected by our questionnaire, namely alcohol abuse and dependence, substance abuse, and depression, were risk factors for facial trauma. Maxillo-facial surgeons are often unaware of psychiatric disorders that may be the cause of facial trauma. The self-screening test we propose allows documenting the psychiatric history of patients and implementing earlier psychiatric care. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Reliability and Validity of the Beck Depression Inventory--II with Adolescent Psychiatric Inpatients

ERIC Educational Resources Information Center

Osman, Augustine; Kopper, Beverly A; Barrios, Frank; Gutierrez, Peter M.; Bagge, Courtney L.

2004-01-01

This investigation was conducted to validate the Beck Depression Inventory--II (BDI-II; A. T. Beck, R. A. Steer, & G. K. Brown, 1996) in samples of adolescent psychiatric inpatients. The sample in each substudy was primarily Caucasian. In Study 1, expert raters (N=7) and adolescent psychiatric inpatients (N=13) evaluated the BDI-II items to assess…

Gene-Environment Interactions in Genome-Wide Association Studies: Current Approaches and New Directions

ERIC Educational Resources Information Center

Winham, Stacey J.; Biernacka, Joanna M.

2013-01-01

Background: Complex psychiatric traits have long been thought to be the result of a combination of genetic and environmental factors, and gene-environment interactions are thought to play a crucial role in behavioral phenotypes and the susceptibility and progression of psychiatric disorders. Candidate gene studies to investigate hypothesized…

Development of the Psychiatric Nurse Job Stressor Scale (PNJSS).

PubMed

Yada, Hironori; Abe, Hiroshi; Funakoshi, Yayoi; Omori, Hisamitsu; Matsuo, Hisae; Ishida, Yasushi; Katoh, Takahiko

2011-10-01

The aim of the present study was to develop a tool, the Psychiatric Nurse Job Stressor Scale (PNJSS), for measuring the stress of psychiatric nurses, and to evaluate the reliability and validity of the PNJSS. A total of 302 psychiatric nurses completed all the questions in an early version of the PNJSS, which was composed of 63 items and is based on past literature of psychiatric nurses' stress. A total of 22 items from four factors, 'Psychiatric Nursing Ability', 'Attitude of Patients', 'Attitude Toward Nursing' and 'Communication', were extracted in exploratory factor analysis. With regard to scale reliability, the item-scale correlation coefficient was r = 0.265-0.570 (P < 0.01), the Cronbach alpha coefficient was 0.675-0.869, and the test-retest correlation coefficient was r = 0.439-0.771 (P < 0.01). With regard to scale validity, the convergent validity of the 'job stressor' scale was r = 0.172-0.420 (P < 0.01), and the predictive validity of the 'job reaction' scale was r = 0.201-0.453 (P < 0.01). The compatibility of the factor model to the data was 1.750 (χ(2) /d.f., 343.189/196, P < 0.01), the goodness of fit index was 0.910, the adjusted goodness of fit index was 0.883, the comparative fit index was 0.924, and the root mean square error of approximation was 0.050. The PNJSS has sufficient reliability and validity as a four-factor structure containing 22 items, and is valid as a tool for evaluating psychiatric nurse job stressors. © 2011 The Authors. Psychiatry and Clinical Neurosciences © 2011 Japanese Society of Psychiatry and Neurology.

A biopsychosocial approach to liver transplant evaluation in two patients with Wilson's disease.

PubMed

Boeka, Abbe G; Solomon, Andrea C; Lokken, Kristine; McGuire, Brendan M; Bynon, J Steve

2011-05-01

Wilson's disease (WD) is characterized by hepatic, neurological, and/or psychiatric disturbances. In some cases, liver transplantation is indicated. Because psychologists and other health care workers play an increasing role in the evaluation of individuals presenting for transplant, an understanding of the heterogeneous phenotype of WD is important for mental health professionals working in medical settings. This article reviews two cases of patients with WD (one probable, one confirmed) presenting for liver transplantation and a biopsychosocial assessment approach is demonstrated. Patients are presented in terms of medical, psychiatric, and psychosocial history, neuropsychological examination results, and the subsequent indications for liver transplantation. Both patients exhibited neurocognitive and psychiatric symptoms. One patient was determined to be a marginally suitable candidate for transplantation, whereas the other was considered at high risk for negative outcome post-transplant. This article demonstrates the importance of considering phenotypic presentation, neurocognitive function, psychiatric status, and psychosocial circumstances in assessing transplant readiness in patients with WD. A comprehensive and integrative biopsychosocial assessment approach is appropriate for evaluating patients with WD presenting for liver transplantation. © 2011 Taylor & Francis

Association of Genetic Risk for Schizophrenia With Nonparticipation Over Time in a Population-Based Cohort Study.

PubMed

Martin, Joanna; Tilling, Kate; Hubbard, Leon; Stergiakouli, Evie; Thapar, Anita; Davey Smith, George; O'Donovan, Michael C; Zammit, Stanley

2016-06-15

Progress has recently been made in understanding the genetic basis of schizophrenia and other psychiatric disorders. Longitudinal studies are complicated by participant dropout, which could be related to the presence of psychiatric problems and associated genetic risk. We tested whether common genetic variants implicated in schizophrenia were associated with study nonparticipation among 7,867 children and 7,850 mothers from the Avon Longitudinal Study of Parents and Children (ALSPAC; 1991-2007), a longitudinal population cohort study. Higher polygenic risk scores for schizophrenia were consistently associated with noncompletion of questionnaires by study mothers and children and nonattendance at data collection throughout childhood and adolescence (ages 1-15 years). These associations persisted after adjustment for other potential correlates of nonparticipation. Results suggest that persons at higher genetic risk for schizophrenia are likely to be underrepresented in cohort studies, which will underestimate risk of this and related psychiatric, cognitive, and behavioral phenotypes in the population. Statistical power to detect associations with these phenotypes will be reduced, while analyses of schizophrenia-related phenotypes as outcomes may be biased by the nonrandom missingness of these phenotypes, even if multiple imputation is used. Similarly, in complete-case analyses, collider bias may affect associations between genetic risk and other factors associated with missingness. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health.

DSM-5 Insomnia and Short Sleep: Comorbidity Landscape and Racial Disparities.

PubMed

Kalmbach, David A; Pillai, Vivek; Arnedt, J Todd; Drake, Christopher L

2016-12-01

We estimated rates of cardiometabolic disease, pain conditions, and psychiatric illness associated with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) insomnia disorder (current and in remission) and habitual short sleep (fewer than 6 h), and examined the roles of insomnia and short sleep in racial disparities in disease burden between black and non-Hispanic white Americans. This epidemiological survey study was cross-sectional. The community-based sample consisted of 3,911 subjects (46.0 y ± 13.3; 65.4% female; 25.0% black) across six sleep groups based on DSM-5 insomnia classification ( never vs. remitted vs. current ) and self-reported habitual sleep duration ( normal vs. short ). Vascular events, cardiometabolic disease, pain conditions, and psychiatric symptoms were self-reported. Short sleeping insomniacs were at elevated risk for myocardial infarction, stroke, treated hypertension, diabetes, chronic pain, back pain, depression, and anxiety, independent of sex, age, and obesity. Morbidity profiles for insomniacs with normal sleep duration and former insomniacs, irrespective of sleep duration, were similar with elevations in treated hypertension, chronic pain, depression, and anxiety. Regarding racial disparities, cardiometabolic and psychiatric illness burden was greater for blacks, who were more likely to have short sleep and the short sleep insomnia phenotype. Evidence suggested that health disparities may be attributable in part to race-related differences in sleep. Insomnia disorder with short sleep is the most severe phenotype of insomnia and comorbid with many cardiometabolic and psychiatric illnesses, whereas morbidity profiles are highly similar between insomniacs with normal sleep duration and former insomniacs. Short sleep endemic to black Americans increases risk for the short sleep insomnia phenotype and likely contributes to racial disparities in cardiometabolic disease and psychiatric illness. © 2016 Associated Professional Sleep Societies, LLC.

The Relationship of Hypochondriasis to Anxiety, Depressive, and Somatoform Disorders.

PubMed

Scarella, Timothy M; Laferton, Johannes A C; Ahern, David K; Fallon, Brian A; Barsky, Arthur

2016-01-01

Though the phenotype of anxiety about medical illness has long been recognized, there continues to be debate as to whether it is a distinct psychiatric disorder and, if so, to which diagnostic category it belongs. Our objective was to investigate the pattern of psychiatric comorbidity in hypochondriasis (HC) and to assess the relationship of health anxiety to anxiety, depressive, and somatoform disorders. Data were collected as part of a clinical trial on treatment methods for HC. In all, 194 participants meeting criteria for Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) HC were assessed by sociodemographic variables, results of structured diagnostic interviews, and validated instruments for assessing various symptom dimensions of psychopathology. Most of the individuals with HC had comorbid psychiatric illness; the mean number of comorbid diagnoses was 1.4, and 35.1% had HC as their only diagnosis. Participants were more likely to have only comorbid anxiety disorders than only comorbid depressive or somatoform disorders. Multiple regression analysis of continuous measures of symptoms revealed the strongest correlation of health anxiety with anxiety symptoms, and a weaker correlation with somatoform symptoms; in multiple regression analysis, there was no correlation between health anxiety and depressive symptoms. Our findings suggest that the entity of health anxiety (HC in DSM-IV and illness anxiety disorder in DSM-5) is a clinical syndrome distinct from other psychiatric disorders. Analysis of comorbidity patterns and continuous measures of symptoms suggest that its appropriate classification is with anxiety rather than somatoform or mood disorders. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Relationship between endophenotype and phenotype in ADHD

PubMed Central

Rommelse, Nanda NJ; Altink, Marieke E; Martin, Neilson C; Buschgens, Cathelijne JM; Faraone, Stephen V; Buitelaar, Jan K; Sergeant, Joseph A; Oosterlaan, Jaap

2008-01-01

Background It has been hypothesized that genetic and environmental factors relate to psychiatric disorders through the effect of intermediating, vulnerability traits called endophenotypes. The study had a threefold aim: to examine the predictive validity of an endophenotypic construct for the ADHD diagnosis, to test whether the magnitude of group differences at the endophenotypic and phenotypic level is comparable, and to investigate whether four factors (gender, age, IQ, rater bias) have an effect (moderation or mediation) on the relation between endophenotype and phenotype. Methods Ten neurocognitive tasks were administered to 143 children with ADHD, 68 non-affected siblings, and 120 control children (first-borns) and 132 children with ADHD, 78 non-affected siblings, and 113 controls (second-borns) (5 – 19 years). The task measures have been investigated previously for their endophenotypic viability and were combined to one component which was labeled 'the endophenotypic construct': one measure representative of endophenotypic functioning across several domains of functioning. Results The endophenotypic construct classified children with moderate accuracy (about 50% for each of the three groups). Non-affected children differed as much from controls at the endophenotypic as at the phenotypic level, but affected children displayed a more severe phenotype than endophenotype. Although a potentially moderating effect (age) and several mediating effects (gender, age, IQ) were found affecting the relation between endophenotypic construct and phenotype, none of the effects studied could account for the finding that affected children had a more severe phenotype than endophenotype. Conclusion Endophenotypic functioning is moderately predictive of the ADHD diagnosis, though findings suggest substantial overlap exists between endophenotypic functioning in the groups of affected children, non-affected siblings, and controls. Results suggest other factors may be crucial and aggravate the ADHD symptoms in affected children. PMID:18234079

Assessing the reliability, predictive and construct validity of historical, clinical and risk management-20 (HCR-20) in Mexican psychiatric inpatients.

PubMed

Sada, Andrea; Robles-García, Rebeca; Martínez-López, Nicolás; Hernández-Ramírez, Rafael; Tovilla-Zarate, Carlos-Alfonso; López-Munguía, Fernando; Suárez-Alvarez, Enrique; Ayala, Xochitl; Fresán, Ana

2016-08-01

Assessing dangerousness to gauge the likelihood of future violent behaviour has become an integral part of clinical mental health practice in forensic and non-forensic psychiatric settings, one of the most effective instruments for this being the Historical, Clinical and Risk Management-20 (HCR-20). To examine the HCR-20 factor structure in Mexican psychiatric inpatients and to obtain its predictive validity and reliability for use in this population. In total, 225 patients diagnosed with psychotic, affective or personality disorders were included. The HCR-20 was applied at hospital admission and violent behaviours were assessed during psychiatric hospitalization using the Overt Aggression Scale (OAS). Construct validity, predictive validity and internal consistency were determined. Violent behaviour remains more severe in patients classified in the high-risk group during hospitalization. Fifteen items displayed adequate communalities in the original designated domains of the HCR-20 and internal consistency of the instruments was high. The HCR-20 is a suitable instrument for predicting violence risk in Mexican psychiatric inpatients.

Psychiatric Aspects of Dementia

PubMed Central

Onyike, Chiadi U.

2016-01-01

Purpose of Review: The psychiatric aspects of dementia are increasingly recognized as significant contributors to distress, disability, and care burden, and, thus, are of increasing interest to practicing neurologists. This article examines how psychiatric disorders are entwined with dementia and describes the predictive, diagnostic, and therapeutic implications of the psychiatric symptoms of dementia. Recent Findings: Psychiatric disorders, particularly depression and schizophrenia, are associated with higher risk for late-life dementia. Psychiatric phenomena also define phenotypes such as frontotemporal dementia and dementia with Lewy bodies, cause distress, and amplify dementia-related disabilities. Management requires a multidisciplinary team, a problem-solving stance, programs of care, and pharmacologic management. Recent innovations include model programs that provide structured problem-solving interventions and tailored in-home care. Summary: There is new appreciation of the complexity of the relationship between psychiatric disorders and dementia as well as the significance of this relationship for treatment, community services, and research. PMID:27042910

Haptoglobin Phenotype Among Arab Patients With Mental Disorders.

PubMed

Armaly, Zaher; Farhat, Kamal; Kinaneh, Safa; Farah, Joseph

2018-03-01

Depression, schizophrenia and panic disorder are common mental disorders in the community and hospitalized patients. These mental disorders negatively affect life quality and even expectancy of life. Haptoglobin (Hp) phenotype (Hp 1-1, 1-2, or 2-2) is associated with risk for cardiovascular diseases, but its association with psychiatric disorders, a growing concern in the modern society, has not been studied thoroughly. The aim of the study was to examine whether Hp phenotype is associated with common mental disorders such as depression, schizophrenia, and panic disorder. The study included 92 Arab patients with mental disorders, and among them 44 suffered from schizophrenia (mean age 39 ± 1.5 years), 17 from depression (mean age 44.5 ± 3.1 years), 31 from panic disorder (mean age of 44.9 ± 2.7 years), and 206 healthy Arab control subjects with a mean age of 42.6 ± 0.9 years. Beck's depression inventory assessment and Hamilton depression scale were administered for depression and panic disorder diagnosis. Schizophrenia was evaluated with positive and negative affect schedule (Panas) test. All mental disorders were evaluated by clinical review. Blood analysis for Hp phenotype was performed. Diagnosis was made using the Diagnostic and Statistical Manual of Mental Disorders axis to correlate depression with Hp phenotype. In mentally healthy controls, 10.7% were Hp 1-1, 38.8% Hp 2-1, and 50.5% Hp 2-2. In patients with the studied psychiatric disorders, Hp phenotype was comparable to healthy subjects; 8.7% were Hp 1-1, 50% Hp 2-1, and 41.3% Hp 2-2. When Hp phenotyping was analyzed in the psychiatric subgroups, Hp 2-1 was more common among depressed and schizophrenic patients, as compared with healthy subjects (58.8% and 52.3% vs. 38.8%). In patients who suffer from panic disorder, Hp phenotype distribution was 6.5% Hp 1-1, 41.9% Hp 2-1, and 51.6% Hp 2-2, suggesting a lower prevalence among Hp 1-1 phenotype. Arab patients who carry Hp 2-1 phenotype may be at risk to develop depression or schizophrenia more than the general healthy population. In contrast, Hp 1-1 subjects have a lower prevalence of panic disorder.

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

PubMed

Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura; Hinney, Anke; Daly, Mark; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M

2017-09-01

The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3) in 12 case-control cohorts comprising 3,495 anorexia nervosa cases and 10,982 controls, the authors performed standard association analysis followed by a meta-analysis across cohorts. Linkage disequilibrium score regression was used to calculate genome-wide common variant heritability (single-nucleotide polymorphism [SNP]-based heritability [h 2 SNP ]), partitioned heritability, and genetic correlations (r g ) between anorexia nervosa and 159 other phenotypes. Results were obtained for 10,641,224 SNPs and insertion-deletion variants with minor allele frequencies >1% and imputation quality scores >0.6. The h 2 SNP of anorexia nervosa was 0.20 (SE=0.02), suggesting that a substantial fraction of the twin-based heritability arises from common genetic variation. The authors identified one genome-wide significant locus on chromosome 12 (rs4622308) in a region harboring a previously reported type 1 diabetes and autoimmune disorder locus. Significant positive genetic correlations were observed between anorexia nervosa and schizophrenia, neuroticism, educational attainment, and high-density lipoprotein cholesterol, and significant negative genetic correlations were observed between anorexia nervosa and body mass index, insulin, glucose, and lipid phenotypes. Anorexia nervosa is a complex heritable phenotype for which this study has uncovered the first genome-wide significant locus. Anorexia nervosa also has large and significant genetic correlations with both psychiatric phenotypes and metabolic traits. The study results encourage a reconceptualization of this frequently lethal disorder as one with both psychiatric and metabolic etiology.

Reliability and validity of a semi-structured DSM-based diagnostic interview module for the assessment of Attention Deficit Hyperactivity Disorder in adult psychiatric outpatients.

PubMed

Gorlin, Eugenia I; Dalrymple, Kristy; Chelminski, Iwona; Zimmerman, Mark

2016-08-30

Despite growing recognition that the symptoms and functional impairments of Attention Deficit/Hyperactivity Disorder (ADHD) persist into adulthood, only a few psychometrically sound diagnostic measures have been developed for the assessment of ADHD in adults, and none have been validated for use in a broad treatment-seeking psychiatric sample. The current study presents the reliability and validity of a semi-structured DSM-based diagnostic interview module for ADHD, which was administered to 1194 adults presenting to an outpatient psychiatric practice. The module showed excellent internal consistency and interrater reliability, good convergent and discriminant validity (as indexed by relatively high correlations with self-report measures of ADHD and ADHD-related constructs and little or no correlation with other, non-ADHD symptom domains), and good construct validity (as indexed by significantly higher rates of psychosocial impairment and self-reported family history of ADHD in individuals who meet criteria for an ADHD diagnosis). This instrument is thus a reliable and valid diagnostic tool for the detection of ADHD in adults presenting for psychiatric evaluation and treatment. Published by Elsevier Ireland Ltd.

Patient-reported Pediatric Quality of Life Inventory™ 4.0 Generic Core Scales in pediatric patients with attention-deficit/hyperactivity disorder and comorbid psychiatric disorders: feasibility, reliability, and validity.

PubMed

Limbers, Christine A; Ripperger-Suhler, Jane; Heffer, Robert W; Varni, James W

2011-06-01

The primary objective of the study was to evaluate the feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ (PedsQL) 4.0 Generic Core Scales as a patient self-reported health-related quality of life measurement instrument in pediatric patients with attention-deficit/hyperactivity disorder (ADHD) and physician-diagnosed comorbid psychiatric disorders being seen in a pediatric psychiatric clinic. The secondary objective was to evaluate parent proxy-reported PedsQL in this population. One hundred seventy-nine children with ADHD and comorbid psychiatric disorders ages 5 to 18 years and 181 parents completed the PedsQL 4.0 Generic Core Scales and parents also completed the Vanderbilt ADHD Diagnostic Rating Scales. Known-groups discriminant validity comparisons were made between the sample of pediatric patients with ADHD and comorbid psychiatric disorders and healthy, cancer, and type 1 diabetes samples. The PedsQL evidenced minimal missing responses for patient self-report and parent proxy-report (0.2% and 0.5%, respectively), demonstrated no significant floor or ceiling effects, and achieved excellent reliability for the Total Scale Score (α = 0.85 patient self-report, 0.92 parent proxy-report). Pediatric patients with ADHD and comorbid psychiatric disorders and their parents reported statistically significantly worse PedsQL scores than healthy children, with large effect sizes across all domains, supporting known-groups discriminant validity. Pediatric patients with ADHD and comorbid psychiatric disorders and their parents reported worse PedsQL scores compared to pediatric patients with cancer and diabetes with the exception of physical health, in which pediatric cancer patients manifested lower physical health, indicating the relative severe impact of ADHD and comorbid psychiatric disorders. More severe ADHD symptoms were generally associated with more impaired PedsQL scores, supporting construct validity. These data demonstrate the feasibility, reliability, and validity of patient self-reported PedsQL 4.0 Generic Core Scales in this high risk population of pediatric patients and highlight the profound negative impact of ADHD and comorbid psychiatric disorders on generic health-related quality of life, comparable to or worse than serious pediatric chronic physical diseases. Copyright © 2011 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

The RDoC initiative and the structure of psychopathology.

PubMed

Krueger, Robert F; DeYoung, Colin G

2016-03-01

The NIMH Research Domain Criteria (RDoC) project represents a welcome effort to circumvent the limitations of psychiatric categories as phenotypes for psychopathology research. Here, we describe the hierarchical and dimensional structure of phenotypic psychopathology and illustrate how this structure provides phenotypes suitable for RDoC research on neural correlates of psychopathology. A hierarchical and dimensional approach to psychopathology phenotypes holds great promise for delineating connections between neuroscience constructs and the patterns of affect, cognition, and behavior that constitute manifest psychopathology. © 2016 Society for Psychophysiological Research.

Identifying novel interventional strategies for psychiatric disorders: integrating genomics, 'enviromics' and gene-environment interactions in valid preclinical models.

PubMed

McOmish, Caitlin E; Burrows, Emma L; Hannan, Anthony J

2014-10-01

Psychiatric disorders affect a substantial proportion of the population worldwide. This high prevalence, combined with the chronicity of the disorders and the major social and economic impacts, creates a significant burden. As a result, an important priority is the development of novel and effective interventional strategies for reducing incidence rates and improving outcomes. This review explores the progress that has been made to date in establishing valid animal models of psychiatric disorders, while beginning to unravel the complex factors that may be contributing to the limitations of current methodological approaches. We propose some approaches for optimizing the validity of animal models and developing effective interventions. We use schizophrenia and autism spectrum disorders as examples of disorders for which development of valid preclinical models, and fully effective therapeutics, have proven particularly challenging. However, the conclusions have relevance to various other psychiatric conditions, including depression, anxiety and bipolar disorders. We address the key aspects of construct, face and predictive validity in animal models, incorporating genetic and environmental factors. Our understanding of psychiatric disorders is accelerating exponentially, revealing extraordinary levels of genetic complexity, heterogeneity and pleiotropy. The environmental factors contributing to individual, and multiple, disorders also exhibit breathtaking complexity, requiring systematic analysis to experimentally explore the environmental mediators and modulators which constitute the 'envirome' of each psychiatric disorder. Ultimately, genetic and environmental factors need to be integrated via animal models incorporating the spatiotemporal complexity of gene-environment interactions and experience-dependent plasticity, thus better recapitulating the dynamic nature of brain development, function and dysfunction. © 2014 The British Pharmacological Society.

Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges

PubMed Central

2012-01-01

Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications. PMID:22731684

Behavioral assessments of BTBR T+Itpr3tf/J mice by tests of object attention and elevated open platform: Implications for an animal model of psychiatric comorbidity in autism.

PubMed

Chao, Owen Y; Yunger, Richelle; Yang, Yi-Mei

2018-07-16

Autism spectrum disorders (ASD) are diagnosed based on the behavioral criteria of impaired social interaction, defective communication and repetitive behaviors. Psychiatric comorbidities, such as anxiety and intellectual disability, are commonly present in ASD. The BTBR T+ Itpr3tf/J (BTBR) mice display a range of autistic phenotypes, yet whether this mouse model is appropriate to study psychiatric comorbidity in ASD remains unclear. We addressed this issue by subjecting the BTBR animals to three-chambered apparatus, open field, object attention test and elevated open platform. Compared to C57BL/6J control mice, the BTBR mice displayed hyperactivity in most of the tests. In the three-chamber assessment, they exhibited deficits in sociability. In the open field, more grooming and thigmotaxis and less rearing behaviors were observed. They also showed impaired object-based attention. On the elevated open platform, the BTBR animals stayed more to the edges than in the center of the platform. To further examine the properties of this test, naïve C57BL/6J mice were randomly administrated with saline or an anxiogenic substance, caffeine. The caffeine group demonstrated a similar behavioral pattern as the BTBR mice. When the saline group was re-exposed to the same platform, the time they stayed in the center substantially increased, likely due to reduced anxiety by habituation. These results indicate that the BTBR were more anxious than control mice on the open platform. Taken together, the BTBR strain exhibit emotional and cognitive impairments in addition to autistic behaviors, suggesting that they can be a valid model for ASD with psychiatric comorbidity. Copyright © 2018 Elsevier B.V. All rights reserved.

DSM-5 Insomnia and Short Sleep: Comorbidity Landscape and Racial Disparities

PubMed Central

Kalmbach, David A.; Pillai, Vivek; Arnedt, J. Todd; Drake, Christopher L.

2016-01-01

Study Objectives: We estimated rates of cardiometabolic disease, pain conditions, and psychiatric illness associated with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) insomnia disorder (current and in remission) and habitual short sleep (fewer than 6 h), and examined the roles of insomnia and short sleep in racial disparities in disease burden between black and non-Hispanic white Americans. Methods: This epidemiological survey study was cross-sectional. The community-based sample consisted of 3,911 subjects (46.0 y ± 13.3; 65.4% female; 25.0% black) across six sleep groups based on DSM-5 insomnia classification (never vs. remitted vs. current) and self-reported habitual sleep duration (normal vs. short). Vascular events, cardiometabolic disease, pain conditions, and psychiatric symptoms were self-reported. Results: Short sleeping insomniacs were at elevated risk for myocardial infarction, stroke, treated hypertension, diabetes, chronic pain, back pain, depression, and anxiety, independent of sex, age, and obesity. Morbidity profiles for insomniacs with normal sleep duration and former insomniacs, irrespective of sleep duration, were similar with elevations in treated hypertension, chronic pain, depression, and anxiety. Regarding racial disparities, cardiometabolic and psychiatric illness burden was greater for blacks, who were more likely to have short sleep and the short sleep insomnia phenotype. Evidence suggested that health disparities may be attributable in part to race-related differences in sleep. Conclusions: Insomnia disorder with short sleep is the most severe phenotype of insomnia and comorbid with many cardiometabolic and psychiatric illnesses, whereas morbidity profiles are highly similar between insomniacs with normal sleep duration and former insomniacs. Short sleep endemic to black Americans increases risk for the short sleep insomnia phenotype and likely contributes to racial disparities in cardiometabolic disease and psychiatric illness. Citation: Kalmbach DA, Pillai V, Arnedt JT, Drake CL. DSM-5 insomnia and short sleep: comorbidity landscape and racial disparities. SLEEP 2016;39(12):2101–2111. PMID:27634805

Genome-wide association identifies candidate genes that influence the human electroencephalogram

PubMed Central

Hodgkinson, Colin A.; Enoch, Mary-Anne; Srivastava, Vibhuti; Cummins-Oman, Justine S.; Ferrier, Cherisse; Iarikova, Polina; Sankararaman, Sriram; Yamini, Goli; Yuan, Qiaoping; Zhou, Zhifeng; Albaugh, Bernard; White, Kenneth V.; Shen, Pei-Hong; Goldman, David

2010-01-01

Complex psychiatric disorders are resistant to whole-genome analysis due to genetic and etiological heterogeneity. Variation in resting electroencephalogram (EEG) is associated with common, complex psychiatric diseases including alcoholism, schizophrenia, and anxiety disorders, although not diagnostic for any of them. EEG traits for an individual are stable, variable between individuals, and moderately to highly heritable. Such intermediate phenotypes appear to be closer to underlying molecular processes than are clinical symptoms, and represent an alternative approach for the identification of genetic variation that underlies complex psychiatric disorders. We performed a whole-genome association study on alpha (α), beta (β), and theta (θ) EEG power in a Native American cohort of 322 individuals to take advantage of the genetic and environmental homogeneity of this population isolate. We identified three genes (SGIP1, ST6GALNAC3, and UGDH) with nominal association to variability of θ or α power. SGIP1 was estimated to account for 8.8% of variance in θ power, and this association was replicated in US Caucasians, where it accounted for 3.5% of the variance. Bayesian analysis of prior probability of association based upon earlier linkage to chromosome 1 and enrichment for vesicle-related transport proteins indicates that the association of SGIP1 with θ power is genuine. We also found association of SGIP1 with alcoholism, an effect that may be mediated via the same brain mechanisms accessed by θ EEG, and which also provides validation of the use of EEG as an endophenotype for alcoholism. PMID:20421487

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network.

PubMed

Newton, Katherine M; Peissig, Peggy L; Kho, Abel Ngo; Bielinski, Suzette J; Berg, Richard L; Choudhary, Vidhu; Basford, Melissa; Chute, Christopher G; Kullo, Iftikhar J; Li, Rongling; Pacheco, Jennifer A; Rasmussen, Luke V; Spangler, Leslie; Denny, Joshua C

2013-06-01

Genetic studies require precise phenotype definitions, but electronic medical record (EMR) phenotype data are recorded inconsistently and in a variety of formats. To present lessons learned about validation of EMR-based phenotypes from the Electronic Medical Records and Genomics (eMERGE) studies. The eMERGE network created and validated 13 EMR-derived phenotype algorithms. Network sites are Group Health, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University. By validating EMR-derived phenotypes we learned that: (1) multisite validation improves phenotype algorithm accuracy; (2) targets for validation should be carefully considered and defined; (3) specifying time frames for review of variables eases validation time and improves accuracy; (4) using repeated measures requires defining the relevant time period and specifying the most meaningful value to be studied; (5) patient movement in and out of the health plan (transience) can result in incomplete or fragmented data; (6) the review scope should be defined carefully; (7) particular care is required in combining EMR and research data; (8) medication data can be assessed using claims, medications dispensed, or medications prescribed; (9) algorithm development and validation work best as an iterative process; and (10) validation by content experts or structured chart review can provide accurate results. Despite the diverse structure of the five EMRs of the eMERGE sites, we developed, validated, and successfully deployed 13 electronic phenotype algorithms. Validation is a worthwhile process that not only measures phenotype performance but also strengthens phenotype algorithm definitions and enhances their inter-institutional sharing.

Demographic Characteristics and Psychiatric Comorbidity of Children and Adolescents Diagnosed with ADHD in Specialized Healthcare.

PubMed

Joelsson, Petteri; Chudal, Roshan; Gyllenberg, David; Kesti, Anna-Kaisa; Hinkka-Yli-Salomäki, Susanna; Virtanen, Juha-Pekka; Huttunen, Jukka; Ristkari, Terja; Parkkola, Kai; Gissler, Mika; Sourander, Andre

2016-08-01

Recent studies have shown an increasing incidence of attention-deficit/hyperactivity disorder (ADHD) among children diagnosed in specialized services. This study aims to describe children with ADHD in Finnish specialized healthcare by reporting the demographic characteristics, time trends in diagnosis, psychiatric comorbidity, and the validity of register-based diagnoses. All the singletons born in Finland between 1991 and 2005 and diagnosed with ADHD by 2011 were identified and their psychiatric comorbidity data was obtained from the Finnish Hospital Discharge Register (FHDR). Parents of 69 patients were interviewed via telephone for a diagnostic validation. A total of 10,409 children were identified with ADHD, with a male: female ratio of 5.3:1 and a psychiatric comorbidity rate of 76.7 %. Of the validation sample 88 % met the diagnostic criteria of ADHD for DSM-IV. There is an increasing trend of ADHD diagnosis among both males and females. Psychiatric comorbidity is common and includes a wide range of disorders among children with ADHD. There was an increase of ADHD diagnoses especially among boys. More attention is needed to detect ADHD among girls in health services. Diagnoses in the FHDR show diagnostic validity and their sociodemographic patterns are in line with previous studies.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

PubMed

Powis, Z; Petrik, I; Cohen, J S; Escolar, D; Burton, J; van Ravenswaaij-Arts, C M A; Sival, D A; Stegmann, A P A; Kleefstra, T; Pfundt, R; Chikarmane, R; Begtrup, A; Huether, R; Tang, S; Shinde, D N

2018-05-01

Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34 deletion. Herein, we report 4 unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Analysis of shared heritability in common disorders of the brain.

PubMed

Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K; Walters, Raymond K; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didier; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N; Reitz, Christiane; Goate, Alison M; Huentelman, Matthew J; Kamboh, M Ilyas; Larson, Eric B; Rogaeva, Ekaterina; St George-Hyslop, Peter; Hakonarson, Hakon; Kukull, Walter A; Farrer, Lindsay A; Barnes, Lisa L; Beach, Thomas G; Demirci, F Yesim; Head, Elizabeth; Hulette, Christine M; Jicha, Gregory A; Kauwe, John S K; Kaye, Jeffrey A; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Pankratz, Vernon S; Poon, Wayne W; Quinn, Joseph F; Saykin, Andrew J; Schneider, Lon S; Smith, Amanda G; Sonnen, Joshua A; Stern, Robert A; Van Deerlin, Vivianna M; Van Eldik, Linda J; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C; Bayer, Anthony; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C; Hampel, Harald; Owen, Michael J; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M; Rossor, Martin; Lupton, Michelle K; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C; Ruiz, Agustin; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Rice, Kenneth; van der Lee, Sven J; De Jager, Philip L; Geschwind, Daniel H; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I; Ransmayr, Gerhard; Hyman, Bradley T; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Kurth, Tobias; Ligthart, Lannie; Terwindt, Gisela M; Freilinger, Tobias; Ran, Caroline; Gordon, Scott D; Borck, Guntram; Adams, Hieab H H; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E; Schürks, Markus; Hrafnsdottir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G; Montgomery, Grant W; Kurki, Mitja I; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D; Belin, Andrea C; van den Maagdenberg, Arn M J M; Zwart, John-Anker; Boomsma, Dorret; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I; Nyholt, Dale R; Avbersek, Andreja; Baum, Larry; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell; Catarino, Claudia B; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N; French, Jacqueline; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Møller, Rikke S; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Scheffer, Ingrid; Schoch, Susanne; Sisodiya, Sanjay M; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Thomas, G Neil; Visscher, Frank; Whelan, Christopher D; Zara, Federico; Heinzen, Erin L; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Morris, Huw R; Sharma, Manu; Ryten, Mina; Mok, Kin Y; Pulit, Sara; Bevan, Steve; Holliday, Elizabeth; Attia, John; Battey, Thomas; Boncoraglio, Giorgio; Thijs, Vincent; Chen, Wei-Min; Mitchell, Braxton; Rothwell, Peter; Sharma, Pankaj; Sudlow, Cathie; Vicente, Astrid; Markus, Hugh; Kourkoulis, Christina; Pera, Joana; Raffeld, Miriam; Silliman, Scott; Boraska Perica, Vesna; Thornton, Laura M; Huckins, Laura M; William Rayner, N; Lewis, Cathryn M; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Raevuori, Anu; Hudson, James I; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Baker, Jessica H; O'Toole, Julie K; Trace, Sara E; Davis, Oliver S P; Helder, Sietske G; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N; van Elburg, Annemarie A; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julià, Antonio; Rabionet, Raquel; Dick, Danielle M; Ripatti, Samuli; Andreassen, Ole A; Espeseth, Thomas; Lundervold, Astri J; Steen, Vidar M; Pinto, Dalila; Scherer, Stephen W; Aschauer, Harald; Schosser, Alexandra; Alfredsson, Lars; Padyukov, Leonid; Halmi, Katherine A; Mitchell, James; Strober, Michael; Bergen, Andrew W; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Ramos-Quiroga, Josep Antoni; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K; Arias Vasquez, Alejandro; Doyle, Alysa E; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H; Dalsgaard, Soeren; Børglum, Anders D; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton H D; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K; McGough, James J; Grevet, Eugenio H; Medland, Sarah E; Robinson, Elise; Weiss, Lauren A; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; De-Luca, Daniel Moreno-; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Delorme, Richard; Rogé, Bernadette; Magalhaes, Tiago; Arking, Dan; Schulze, Thomas G; Thompson, Robert C; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B; Reinbold, Céline S; Fullerton, Janice M; Guzman-Parra, José; Mayoral, Fermin; Schofield, Peter R; Cichon, Sven; Mühleisen, Thomas W; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B; Gershon, Elliot S; Rice, John; Potash, James B; Zandi, Peter P; Craddock, Nick; Ferrier, I Nicol; Alda, Martin; Rouleau, Guy A; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M; Cruceanu, Cristiana; Jones, Ian R; Posthuma, Danielle; Andlauer, Till F M; Forstner, Andreas J; Streit, Fabian; Baune, Bernhard T; Air, Tracy; Sinnamon, Grant; Wray, Naomi R; MacIntyre, Donald J; Porteous, David; Homuth, Georg; Rivera, Margarita; Grove, Jakob; Middeldorp, Christel M; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H; Jansen, Rick; de Geus, Eco; Dunn, Erin; Li, Qingqin S; Nauck, Matthias; Schoevers, Robert A; Beekman, Aartjan Tf; Knowles, James A; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L; Bedoya-Berrio, Gabriel; Bienvenu, O Joseph; Brentani, Helena; Burton, Christie; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Denys, Damiaan; Derks, Eske M; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Hanna, Gregory L; Hartmann, Andreas; Hirschtritt, Matthew E; Hoekstra, Pieter J; Huang, Alden; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M; Reus, Victor; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Roessner, Veit; Rosário, Maria; Samuels, Jack F; Sandor, Paul; Stein, Dan J; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S; McLaughlin, Nicole; Nestadt, Paul S; Grabe, Hans-Jorgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Nuria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Cahn, Wiepke; Cairns, Murray; Chong, Siow A; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Lee Chee Keong, Jimmy; Limborska, Svetlana; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C; Nenadic, Igor; van Os, Jim; Pantelis, Christos; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R; Schall, Ulrich; Schwab, Sibylle G; Sim, Kang; So, Hon-Cheong; Stögmann, Elisabeth; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V; Henskens, Frans; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M; Daly, Mark; Dichgans, Martin; Faraone, Stephen V; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S; Koeleman, Bobby; Mathews, Carol A; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M

2018-06-22

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Psychiatric Disorders in Adolescents and Adults with Autism and Intellectual Disability: A Representative Study in One County in Norway

ERIC Educational Resources Information Center

Bakken, Trine L.; Helverschou, Sissel B; Eilertsen, Dag E.; Heggelund, Trond; Myrbakk, Even; Martinsen, Harald

2010-01-01

Few studies assess psychiatric disorders in representative samples of individuals with autism and ID. Symptoms of autism and psychiatric disorders have been confounded. PAC, a conceptually analysed and validated screening instrument, was used. Aims: Assess prevalence of psychiatric disorders in individuals with intellectual disability only…

Culturally sensitive and universal measure of resilience for Japanese populations: Tachikawa Resilience Scale in comparison with Resilience Scale 14-item version.

PubMed

Nishi, Daisuke; Uehara, Ritei; Yoshikawa, Eisho; Sato, Goro; Ito, Masaya; Matsuoka, Yutaka

2013-04-01

Although scales specific to resilience are available and widely used, qualities of resilience could be culturally sensitive. This study aimed to develop a concise scale of resilience for Japanese populations, and compare its validity to that of the Resilience Scale 14-item version (RS-14), one of the most widely used scales for measuring resilience. The Tachikawa Resilience Scale (TRS) was developed on the basis of data obtained from unstructured interviews with Japanese motor vehicle accident survivors without psychiatric disorder. The reliability and validity of the TRS and RS-14 were then examined in cross-sectional studies performed with 523 company workers and 140 psychiatric outpatients. The TRS and RS-14 were negatively correlated with depressive symptoms in company workers and psychiatric outpatients and with anxiety in psychiatric outpatients, and were positively correlated with social support in company workers. Internal consistency and test-retest reliability of the TRS were high. Construct validity of the TRS was equivalent to that of the RS-14 in company workers, and higher than that of the RS-14 in psychiatric outpatients. The reliability and validity of the TRS and RS-14 in Japanese company workers and patients with psychiatric disorders were acceptable. The validity of the TRS was equivalent to or better than that of the RS-14. Although the TRS cannot be regarded as an established scale due to a lack of theoretical rationale, the results of this study suggest that scales measuring resilience that cover cultural aspects might be more relevant in given populations. © 2013 The Authors. Psychiatry and Clinical Neurosciences © 2013 Japanese Society of Psychiatry and Neurology.

Predictive validity and psychiatric nursing staff's perception of the clinical usefulness of the French version of the Dynamic Appraisal of Situational Aggression.

PubMed

Dumais, Alexandre; Larue, Caroline; Michaud, Cécile; Goulet, Marie-Hélène

2012-10-01

This study seeks to evaluate the predictive validity of the French version of the Dynamic Appraisal of Situational Aggression (DASAfr) and psychiatric nurses' perceptions of the clinical usefulness of the scale. The study was conducted in a 12-bed psychiatric intensive care unit in a large adult general psychiatric hospital. We found that the total score on the DASAfr has acceptable predictive accuracy for aggression against others and against staff and for seclusion with restraints; predictive accuracy was poorer for aggression against objects. Moreover, the nurses though the scale would be useful to their practice; and, indeed, the team still uses the DASAfr.

Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Albores-Gallo, Lilia; Fritsche-García, Laura; Miranda-Aguirre, Arturo Pabel; Avila-Acosta, Montserrat

2017-01-01

Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association…

Evidence supporting the match/mismatch hypothesis of psychiatric disorders.

PubMed

Santarelli, Sara; Lesuis, Sylvie L; Wang, Xiao-Dong; Wagner, Klaus V; Hartmann, Jakob; Labermaier, Christiana; Scharf, Sebastian H; Müller, Marianne B; Holsboer, Florian; Schmidt, Mathias V

2014-06-01

Chronic stress is one of the predominant environmental risk factors for a number of psychiatric disorders, particularly for major depression. Different hypotheses have been formulated to address the interaction between early and adult chronic stress in psychiatric disease vulnerability. The match/mismatch hypothesis of psychiatric disease states that the early life environment shapes coping strategies in a manner that enables individuals to optimally face similar environments later in life. We tested this hypothesis in female Balb/c mice that underwent either stress or enrichment early in life and were in adulthood further subdivided in single or group housed, in order to provide aversive or positive adult environments, respectively. We studied the effects of the environmental manipulation on anxiety-like, depressive-like and sociability behaviors and gene expression profiles. We show that continuous exposure to adverse environments (matched condition) is not necessarily resulting in an opposite phenotype compared to a continuous supportive environment (matched condition). Rather, animals with mismatched environmental conditions behaved differently from animals with matched environments on anxious, social and depressive like phenotypes. These results further support the match/mismatch hypothesis and illustrate how mild or moderate aversive conditions during development can shape an individual to be optimally adapted to similar conditions later in life. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.

Phenotypes of sleeplessness: stressing the need for psychodiagnostics in the assessment of insomnia.

PubMed

van de Laar, Merijn; Leufkens, Tim; Bakker, Bart; Pevernagie, Dirk; Overeem, Sebastiaan

2017-09-01

Insomnia is a too general term for various subtypes that might have different etiologies and therefore require different types of treatment. In this explorative study we used cluster analysis to distinguish different phenotypes in 218 patients with insomnia, taking into account several factors including sleep variables and characteristics related to personality and psychiatric comorbidity. Three clusters emerged from the analysis. The 'moderate insomnia with low psychopathology'-cluster was characterized by relatively normal personality traits, as well as normal levels of anxiety and depressive symptoms in the presence of moderate insomnia severity. The 'severe insomnia with moderate psychopathology'-cluster showed relatively high scores on the Insomnia Severity Index and scores on the sleep log that were indicative for severe insomnia. Anxiety and depressive symptoms were slightly above the cut-off and they were characterized by below average self-sufficiency and less goal-directed behavior. The 'early onset insomnia with high psychopathology'-cluster showed a much younger age and earlier insomnia onset than the other two groups. Anxiety and depressive symptoms were well above the cut-off score and the group consisted of a higher percentage of subjects with comorbid psychiatric disorders. This cluster showed a 'typical psychiatric' personality profile. Our findings stress the need for psychodiagnostic procedures next to a sleep-related diagnostic approach, especially in the younger insomnia patients. Specific treatment suggestions are given based on the three phenotypes.

Genetic and environmental determinants of violence risk in psychotic disorders: a multivariate quantitative genetic study of 1.8 million Swedish twins and siblings.

PubMed

Sariaslan, A; Larsson, H; Fazel, S

2016-09-01

Patients diagnosed with psychotic disorders (for example, schizophrenia and bipolar disorder) have elevated risks of committing violent acts, particularly if they are comorbid with substance misuse. Despite recent insights from quantitative and molecular genetic studies demonstrating considerable pleiotropy in the genetic architecture of these phenotypes, there is currently a lack of large-scale studies that have specifically examined the aetiological links between psychotic disorders and violence. Using a sample of all Swedish individuals born between 1958 and 1989 (n=3 332 101), we identified a total of 923 259 twin-sibling pairs. Patients were identified using the National Patient Register using validated algorithms based on International Classification of Diseases (ICD) 8-10. Univariate quantitative genetic models revealed that all phenotypes (schizophrenia, bipolar disorder, substance misuse, and violent crime) were highly heritable (h(2)=53-71%). Multivariate models further revealed that schizophrenia was a stronger predictor of violence (r=0.32; 95% confidence interval: 0.30-0.33) than bipolar disorder (r=0.23; 0.21-0.25), and large proportions (51-67%) of these phenotypic correlations were explained by genetic factors shared between each disorder, substance misuse, and violence. Importantly, we found that genetic influences that were unrelated to substance misuse explained approximately a fifth (21%; 20-22%) of the correlation with violent criminality in bipolar disorder but none of the same correlation in schizophrenia (Pbipolar disorder<0.001; Pschizophrenia=0.55). These findings highlight the problems of not disentangling common and unique sources of covariance across genetically similar phenotypes as the latter sources may include aetiologically important clues. Clinically, these findings underline the importance of assessing risk of different phenotypes together and integrating interventions for psychiatric disorders, substance misuse, and violence.

A Systematic Review of the Huntington Disease-Like 2 Phenotype.

PubMed

Anderson, David G; Walker, Ruth H; Connor, Myles; Carr, Jonathan; Margolis, Russell L; Krause, Amanda

2017-01-01

Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases. A literature review of all clinically described cases of HDL2 until the end of 2016 was performed and a descriptive analysis was carried out. Sixty-nine new cases were described between 2001 and 2016. All cases had likely African ancestry, and most were found in South Africa and the USA. Many features were found to be similar to HD, including a strong negative correlation between repeat length and age of onset. Chorea was noted in 48/57 cases (84%). Dementia was reported in 74% patients, and Parkinsonism in 37%. Psychiatric features were reported in 44 out of 47 cases. Patients with chorea had lower expanded repeat lengths compared to patients without chorea. Eye movements were described in 19 cases, 8 were abnormal. Acanthocytes were detected in 4 of the 13 patients tested. Nineteen out of 20 MRIs were reported as abnormal with findings similar to HD. This review clarifies some aspects of the HDL2 phenotype and highlights others which require further investigation. Features that are unique to HDL2 have been documented in a minority of subjects and require prospective validation.

Innovative approaches to bipolar disorder and its treatment

PubMed Central

Cipriani, Andrea; Harmer, Catherine J.; Nobre, Anna C.; Saunders, Kate; Goodwin, Guy M.; Geddes, John R.

2016-01-01

All psychiatric disorders have suffered from a dearth of truly novel pharmacological interventions. In bipolar disorder, lithium remains a mainstay of treatment, six decades since its effects were serendipitously discovered. The lack of progress reflects several factors, including ignorance of the disorder's pathophysiology and the complexities of the clinical phenotype. After reviewing the current status, we discuss some ways forward. First, we highlight the need for a richer characterization of the clinical profile, facilitated by novel devices and new forms of data capture and analysis; such data are already promoting a reevaluation of the phenotype, with an emphasis on mood instability rather than on discrete clinical episodes. Second, experimental medicine can provide early indications of target engagement and therapeutic response, reducing the time, cost, and risk involved in evaluating potential mood stabilizers. Third, genomic data can inform target identification and validation, such as the increasing evidence for involvement of calcium channel genes in bipolar disorder. Finally, new methods and models relevant to bipolar disorder, including stem cells and genetically modified mice, are being used to study key pathways and drug effects. A combination of these approaches has real potential to break the impasse and deliver genuinely new treatments. PMID:27111134

Neurobehavioral phenotype in Prader-Willi syndrome.

PubMed

Whittington, Joyce; Holland, Anthony

2010-11-15

The focus of this article is on the lifetime development of people with Prader-Willi syndrome (PWS) and specifically on the neurobehavioral phenotype. We consider studies of this aspect of the phenotype (the "behavioral phenotype" of the syndrome) that have confirmed that there are specific behaviors and psychiatric disorders, the propensities to which are increased in those with PWS, and cannot be accounted for by other variables such as IQ or adaptive behavior. Beginning with a description of what is observed in people with PWS, we review the evolving PWS phenotype and consider how some aspects of the phenotype might be best explained, and how this complex phenotype may relate to the equally complex genotype. We then consider in more detail some of the neurobehavioral aspects of the phenotype listed above that raise the greatest management problems for parents and carers. © 2010 Wiley-Liss, Inc.

Attitudes of Chinese community members and psychiatrists towards forensic psychiatric assessments.

PubMed

Shaoling, Zhong; Jun, Wang; Graham, Mellsop; Chen, Chen; Simei, Zhang; Qiguang, Li; Qun, Wang; Jiansong, Zhou; Xiaoping, Wang

2017-12-01

The aim of this study was to investigate the attitudes of Chinese community members and psychiatrists towards forensic psychiatric assessments. A questionnaire designed to record attitudes toward the current forensic psychiatric assessment procedures and the disposal of mentally ill offenders was developed and distributed via a mobile App. A total of 134 community members and 132 psychiatrists voluntarily completed the questionnaire. Most of responders agreed that the department of public-security has the right to apply for a forensic psychiatric assessment but should not be held solely by that department. Community members were less significantly confident in the validation of forensic psychiatric opinions than were the psychiatrists. A significantly higher proportion of community members than psychiatrists considered that offenders judged Not Criminally Responsible on Account of Mental Disorder (NCRMD) should be punished as would be sane people. In addition, only a minority of responders supported that NCRMD should not be held criminally responsible. Our results indicate that both groups have comments on the current distribution of right of startup of forensic psychiatric assessments. Compared to psychiatrists, community members have lower confidence in the validation of forensic psychiatric assessment and have stricter attitudes toward the disposal of offenders with psychiatric disorders. Copyright © 2017 Elsevier B.V. All rights reserved.

Assessing the evidence for shared genetic risks across psychiatric disorders and traits.

PubMed

Martin, Joanna; Taylor, Mark J; Lichtenstein, Paul

2017-12-04

Genetic influences play a significant role in risk for psychiatric disorders, prompting numerous endeavors to further understand their underlying genetic architecture. In this paper, we summarize and review evidence from traditional twin studies and more recent genome-wide molecular genetic analyses regarding two important issues that have proven particularly informative for psychiatric genetic research. First, emerging results are beginning to suggest that genetic risk factors for some (but not all) clinically diagnosed psychiatric disorders or extreme manifestations of psychiatric traits in the population share genetic risks with quantitative variation in milder traits of the same disorder throughout the general population. Second, there is now evidence for substantial sharing of genetic risks across different psychiatric disorders. This extends to the level of characteristic traits throughout the population, with which some clinical disorders also share genetic risks. In this review, we summarize and evaluate the evidence for these two issues, for a range of psychiatric disorders. We then critically appraise putative interpretations regarding the potential meaning of genetic correlation across psychiatric phenotypes. We highlight several new methods and studies which are already using these insights into the genetic architecture of psychiatric disorders to gain additional understanding regarding the underlying biology of these disorders. We conclude by outlining opportunities for future research in this area.

The Hospital as Predictor of Children's and Adolescents' Length of Stay

ERIC Educational Resources Information Center

Leon, Scott C.; Snowden, Jessica; Bryant, Fred B.; Lyons, John S.

2006-01-01

Objective: To predict psychiatric hospital length of stay (LOS) for a sample of Illinois Department of Children and Family Services wards across 4 fiscal years. Method: A prospective design was implemented using the Children's Severity of Psychiatric Illness scale, a reliable and valid measure of psychiatric severity, risk factors, youth…

The Coordinators of Psychiatric Education (COPE) Residency In-Training Exam: A Preliminary Psychometric Assessment

ERIC Educational Resources Information Center

Montgomery, Gregory P. J.; Crockford, David N.; Hecker, Kent

2010-01-01

Objective: The Coordinators of Psychiatric Education (COPE) Residency In-Training Exam is a formative exam for Canadian psychiatric residents that was reconstructed using assessment best practices. An assessment of psychometric properties was subsequently performed on the exam to ensure preliminary validity and reliability. Methods: An exam…

Reliability and Validity of the SPAID-G Checklist for Detecting Psychiatric Disorders in Adults with Intellectual Disability

ERIC Educational Resources Information Center

Bertelli, Marco; Scuticchio, Daniela; Ferrandi, Angela, Lassi, Stefano; Mango, Francesco; Ciavatta, Claudio; Porcelli, Cesare; Bianco, Annamaria; Monchieri, Sergio

2012-01-01

SPAID (Psychiatric Instrument for the Intellectually Disabled Adult) is the first Italian tool-package for carrying out psychiatric diagnosis in adults with Intellectual Disabilities (ID). It includes the "G" form, for general diagnostic orientation, and specific checklists for all groups of syndromes stated by the available…

Neurocognitive Allied Phenotypes for Schizophrenia and Bipolar Disorder

PubMed Central

Hill, S. Kristian; Harris, Margret S. H.; Herbener, Ellen S.; Pavuluri, Mani; Sweeney, John A.

2008-01-01

Psychiatric disorders are genetically complex and represent the end product of multiple biological and social factors. Links between genes and disorder-related abnormalities can be effectively captured via assessment of phenotypes that are both associated with genetic effects and potentially contributory to behavioral abnormalities. Identifying intermediate or allied phenotypes as a strategy for clarifying genetic contributions to disorders has been successful in other areas of medicine and is a promising strategy for identifying susceptibility genes in complex psychiatric disorders. There is growing evidence that schizophrenia and bipolar disorder, rather than being wholly distinct disorders, share genetic risk at several loci. Further, there is growing evidence of similarity in the pattern of cognitive and neurobiological deficits in these groups, which may be the result of the effects of these common genetic factors. This review was undertaken to identify patterns of performance on neurocognitive and affective tasks across probands with schizophrenia and bipolar disorder as well as unaffected family members, which warrant further investigation as potential intermediate trait markers. Available evidence indicates that measures of attention regulation, working memory, episodic memory, and emotion processing offer potential for identifying shared and illness-specific allied neurocognitive phenotypes for schizophrenia and bipolar disorder. However, very few studies have evaluated neurocognitive dimensions in bipolar probands or their unaffected relatives, and much work in this area is needed. PMID:18448479

Psychiatric diagnosis - is it universal or relative to culture?

PubMed

Canino, Glorisa; Alegría, Margarita

2008-03-01

There is little consensus on the extent to which psychiatric disorders or syndromes are universal or the extent to which they differ on their core definitions and constellation of symptoms as a result of cultural or contextual factors. This controversy continues due to the lack of biological markers, imprecise measurement and the lack of a gold standard for validating most psychiatric conditions. Empirical studies were used to present evidence in favor of or against a universalist or relativistic view of child psychiatric disorders using a model developed by Robins and Guze to determine the validity of psychiatric disorders. The prevalence of some of the most common specific disorders and syndromes as well as its risk and protective factors vary across cultures, yet comorbid patterns and response to treatments vary little across cultures. Cross-cultural longitudinal data on outcomes is equivocal. The cross-cultural validity of child disorders may vary drastically depending on the disorder, but empirical evidence that attests for the cross-cultural validity of diagnostic criteria for each child disorder is lacking. There is a need for studies that investigate the extent to which gene-environment interactions are related to specific disorders across cultures. Clinicians are urged to consider culture and context in determining the way in which children's psychopathology may be manifested independent of their views. Recommendations for the upcoming classificatory system are provided so that practical or theoretical considerations are addressed about how culture and ethnic issues affect the assessment or treatment of specific disorders in children.

Meta-Analyses of Genome-Wide Association Data Hold New Promise for Addiction Genetics.

PubMed

Agrawal, Arpana; Edenberg, Howard J; Gelernter, Joel

2016-09-01

Meta-analyses of genome-wide association study data have begun to lead to promising new discoveries for behavioral and psychiatrically relevant phenotypes (e.g., schizophrenia, educational attainment). We outline how this methodology can similarly lead to novel discoveries in genomic studies of substance use disorders, and discuss challenges that will need to be overcome to accomplish this goal. We illustrate our approach with the work of the newly established Substance Use Disorders workgroup of the Psychiatric Genomics Consortium.

Incremental Validity of the DSM-5 Section III Personality Disorder Traits With Respect to Psychosocial Impairment.

PubMed

Simms, Leonard J; Calabrese, William R

2016-02-01

Traditional personality disorders (PDs) are associated with significant psychosocial impairment. DSM-5 Section III includes an alternative hybrid personality disorder (PD) classification approach, with both type and trait elements, but relatively little is known about the impairments associated with Section III traits. Our objective was to study the incremental validity of Section III traits--compared to normal-range traits, traditional PD criterion counts, and common psychiatric symptomatology--in predicting psychosocial impairment. To that end, 628 current/recent psychiatric patients completed measures of PD traits, normal-range traits, traditional PD criteria, psychiatric symptomatology, and psychosocial impairments. Hierarchical regressions revealed that Section III PD traits incrementally predicted psychosocial impairment over normal-range personality traits, PD criterion counts, and common psychiatric symptomatology. In contrast, the incremental effects for normal-range traits, PD symptom counts, and common psychiatric symptomatology were substantially smaller than for PD traits. These findings have implications for PD classification and the impairment literature more generally.

Hospital Anxiety and Depression Scale: Factor Structure, Internal Consistency and Convergent Validity in Patients with Dizziness.

PubMed

Piker, Erin G; Kaylie, David M; Garrison, Douglas; Tucci, Debara L

2015-01-01

Psychiatric comorbidities, particularly anxiety-related pathologies, are often observed in dizzy patients. The Hospital Anxiety and Depression Scale (HADS) is a widely used self-report instrument used to screen for anxiety and depression in medical outpatient settings. The purpose of this study was to assess the factor structure, internal consistency and convergent validity of the HADS in an unselected group of patients with dizziness. The HADS and the Dizziness Handicap Inventory (DHI) were administered to 205 dizzy patients. An exploratory factor analysis was conducted and indicated a 3-factor structure, inconsistent with the 2-subscale structure (i.e. anxiety and depression) of the HADS. The total scale was found to be internally consistent, and convergent validity, as assessed using the DHI, was acceptable. Overall findings suggest that the HADS should not be used as a tool for psychiatric differential diagnosis, but rather as a helpful screener for general psychiatric distress in the two domains of psychiatric illness most germane in dizzy patients. © 2015 S. Karger AG, Basel.

A latent class approach to the external validation of respiratory and non-respiratory panic subtypes

PubMed Central

Roberson-Nay, R.; Latendresse, S. J.; Kendler, K. S.

2013-01-01

Background The phenotypic variance observed in panic disorder (PD) appears to be best captured by a respiratory and non-respiratory panic subtype. We compared respiratory and non-respiratory panic subtypes across a series of external validators (temporal stability, psychiatric co-morbidity, treatment response) to determine whether subtypes are best conceptualized as differing: (1) only on their symptom profiles with no other differences between them; (2) on a quantitative (i.e. severity) dimension only; or (3) qualitatively from one another. Method Data from a large epidemiological survey (National Epidemiologic Survey on Alcohol and Related Conditions) and a clinical trial (Cross-National Collaborative Panic Study) were used. All analytic comparisons were examined within a latent class framework. Results High temporal stability of panic subtypes was observed, particularly among females. Respiratory panic was associated with greater odds of lifetime major depression and a range of anxiety disorders as well as increased treatment utilization, but no demographic differences. Treatment outcome data did not suggest that the two PD subtypes were associated with differential response to either imipramine or alprazolam. Conclusions These data suggest that respiratory and non-respiratory panic represent valid subtypes along the PD continuum, with the respiratory variant representing a more severe form of the disorder. PMID:21846423

Reliability and validity of the workplace social distance scale.

PubMed

Yoshii, Hatsumi; Mandai, Nozomu; Saito, Hidemitsu; Akazawa, Kouhei

2014-10-29

Self-stigma, defined by a negative attitude toward oneself combined with the consciousness of being a target of prejudice, is a critical problem for psychiatric patients. Self-stigma studies among psychiatric patients have indicated that high stigma is predictive of detrimental effects such as the delay of treatment and decreases in social participation in patients, and levels of self-stigma should be statistically evaluated. In this study, we developed the Workplace Social Distance Scale (WSDS), rephrasing the eight items of the Japanese version of the Social Distance Scale (SDSJ) to apply to the work setting in Japan. We examined the reliability and validity of the WSDS among 83 psychiatric patients. Factor analysis extracted three factors from the scale items: "work relations," "shallow relationships," and "employment." These factors are similar to the assessment factors of the SDSJ. Cronbach's alpha coefficient for the WSDS was 0.753. The split-half reliability for the WSDS was 0.801, indicating significant correlations. In addition, the WSDS was significantly correlated with the SDSJ. These findings suggest that the WSDS represents an approximation of self-stigma in the workplace among psychiatric patients. Our study assessed the reliability and validity of the WSDS for measuring self-stigma in Japan. Future studies should investigate the reliability and validity of the scale in other countries.

Beyond Reliability

PubMed Central

2008-01-01

The validity of psychiatric diagnosis rests in part on a demonstration that identifiable biomarkers exist for major psychiatric illnesses. Recent evidence supports the existence of several biomarkers or endophenotypes for both schizophrenia and bipolar disorder. As we learn more about how these biomarkers relate to the symptoms, course, and treatment response of major psychiatric disorders, the “objectivity” of psychiatric diagnosis will increase. However, psychiatry is and will remain a clinically based discipline, aimed at comprehensively understanding and relieving human suffering. PMID:19727304

Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype

PubMed Central

Morel, Aurore; Peyroux, Elodie; Leleu, Arnaud; Favre, Emilie; Franck, Nicolas; Demily, Caroline

2018-01-01

Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader–Willi syndrome, Rett syndrome, Smith–Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic expression “social cognition” before summarizing the genotype, psychiatric phenotype, and non-social cognitive profile in each syndrome. Then, we offer a systematic review of the social cognitive abilities and the disturbed mechanisms they are likely associated with. We followed the PRISMA process, including the definition of the relevant search terms, the selection of studies based on clear inclusion, and exclusion criteria and the quality appraisal of papers. We finally provide insights that may have considerable influence on the development of adapted therapeutic interventions such as social cognitive training (SCT) therapies specifically designed to target the psychiatric phenotype. The results of this review suggest that social cognition impairments share some similarities across syndromes. We propose that social cognitive impairments are strongly involved in behavioral symptoms regardless of the overall cognitive level measured by intelligence quotient. Better understanding the mechanisms underlying impaired social cognition may lead to adapt therapeutic interventions. The studies targeting social cognition processes offer new thoughts about the development of specific cognitive training programs, as they highlight the importance of connecting neurocognitive and SCT techniques. PMID:29774207

Reliability and validity of a treatment adherence measure for child psychiatric rehabilitation.

PubMed

Williams, Nathaniel J; Green, Philip

2012-09-01

Treatment adherence, defined as the degree to which practitioners implemented prescribed program principles and activities and avoided proscribed activities, has been an area of growing interest in mental health services for children with severe emotional and behavioral disorders. This study evaluated the reliability and validity of a treatment adherence measure for child psychiatric rehabilitation (CPSR). Parents of children receiving CPSR (n = 79) or psychotherapy (n = 27) completed the Children's Psychosocial Rehabilitation Treatment Adherence Measure (CTAM) and a measure of 2-week session impact. Psychiatric rehabilitation (PSR) supervisors identified PSR practitioners with reputations for high or low adherence to the model. The CTAM's discriminant validity was assessed by using known-groups procedures and predictive validity by examining its relationship to 2-week session impact. The CTAM demonstrated excellent internal consistency (α = .92), discriminant validity (p = .002, d = .72; p = .021, d = .59), and predictive validity (B = 2.24, SE = .31, p < .001), accounting for 28% of the child-level variance in 2-week session impact. Findings suggest the CTAM is a reliable and valid measure of treatment adherence for CPSR programs with a skill-teaching focus. Providers and agencies should take steps to enhance treatment adherence because it may be an important predictor of children's short-term response to CPSR. (PsycINFO Database Record (c) 2012 APA, all rights reserved).

Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning.

PubMed

Grigsby, Jim; Brega, Angela G; Bennett, Rachael E; Bourgeois, James A; Seritan, Andreea L; Goodrich, Glenn K; Hagerman, Randi J

2016-08-01

To clarify the neuropsychiatric phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS), and assess the extent to which it is mediated by the dysexecutive syndrome that is a major feature of the disorder. We examined the prevalence of clinically meaningful psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, in comparison with men with a normal allele. Measures included the Neuropsychiatric Inventory (NPI), Symptom Checklist-90-R (SCL-90-R), and the Behavioral Dyscontrol Scale, a measure of executive functioning. Between-group differences were evaluated using logistic regression, followed by a mediation analysis with ordinary least squares regression to assess the contribution of dysexecutive syndrome to the observed psychiatric domains. Men with FXTAS showed higher rates of clinically significant symptoms overall and in specific domains: somatization, obsessive compulsive, depression, anxiety, psychoticism, agitation/aggression, apathy/indifference, irritability, and nighttime behavior problems. Post hoc analyses suggested that findings of psychoticism among men with FXTAS may be associated with participants' accurate acknowledgment of cognitive and physical dysfunction, rather than reflecting psychosis. Asymptomatic carriers showed no evidence of clinically significant psychiatric symptoms, but when all carriers were compared with men having a normal FMR1 allele, executive function deficits were found to mediate scores in several domains on both NPI and SCL-90-R. Building on prior research, the results provide evidence that the psychiatric phenotype for men includes clinically meaningful depression, hostility, and irritability, in association with behavioral and attentional disinhibition. It is likely that these problems reflect the effects of impaired executive functioning.

Validation of the Portuguese version of the Functional Assessment of Chronic Illness Therapy-Spiritual Well-Being scale (FACIT-Sp 12) among Brazilian psychiatric inpatients.

PubMed

Lucchetti, Giancarlo; Lucchetti, Alessandra Lamas Granero; de Bernardin Gonçalves, Juliane Piasseschi; Vallada, Homero P

2015-02-01

Functional Assessment of Chronic Illness Therapy-Spiritual Well-Being scale (FACIT-Sp 12) is one of the most used and most validated instruments for assessing spiritual well-being in the world. Some Brazilian studies have used this instrument without, however, assessing its psychometric properties. The present study aims to validate the Portuguese version of the FACIT-Sp 12 among Brazilian psychiatric inpatients. A self-administered questionnaire, covering spiritual well-being (FACIT-Sp 12), depression, anxiety, religiosity, quality of life, and optimism, was administered. Of those who met the inclusion criteria, 579 patients were invited to participate and 493 (85.1 %) were able to fill out the FACIT-Sp 12 twice (test and retest). Subsequently, the validation analysis was carried out. Estimation of test-retest reliability, discriminant, and convergent validity was determined by the Spearman's correlation test, and the internal consistency was examined by the Cronbach's alpha. The sample was predominantly male (63.9 %) with a mean age of 35.9 years, and the most common psychiatric condition was bipolar disorder (25.7 %) followed by schizophrenia (20.4 %), drug use (20.0 %), and depression (17.6 %) according to ICD-10. The total FACIT-Sp 12 scale as well as the subscales demonstrated high internal consistency (coefficient alphas ranging from 0.893 for the total scale to 0.655 for the Meaning subscale), good convergent and divergent validity, and satisfactory test-retest reliability (rho = 0.699). The Portuguese version of FACIT-Sp 12 is a valid and reliable measure to use in Brazilian psychiatric inpatients. The availability of a brief and broad measure of spiritual well-being can help the study of spirituality and its influence on health by researchers from countries that speak the Portuguese language.

Behavioral Phenotyping Assays for Genetic Mouse Models of Neurodevelopmental, Neurodegenerative, and Psychiatric Disorders.

PubMed

Sukoff Rizzo, Stacey J; Crawley, Jacqueline N

2017-02-08

Animal models offer heuristic research tools to understand the causes of human diseases and to identify potential treatments. With rapidly evolving genetic engineering technologies, mutations identified in a human disorder can be generated in the mouse genome. Phenotypic outcomes of the mutation are then explicated to confirm hypotheses about causes and to discover effective therapeutics. Most neurodevelopmental, neurodegenerative, and psychiatric disorders are diagnosed primarily by their prominent behavioral symptoms. Mouse behavioral assays analogous to the human symptoms have been developed to analyze the consequences of mutations and to evaluate proposed therapeutics preclinically. Here we describe the range of mouse behavioral tests available in the established behavioral neuroscience literature, along with examples of their translational applications. Concepts presented have been successfully used in other species, including flies, worms, fish, rats, pigs, and nonhuman primates. Identical strategies can be employed to test hypotheses about environmental causes and gene × environment interactions.

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof-of-concept and roadmap for future studies

PubMed Central

Anttila, Verneri; Hibar, Derrek P; van Hulzen, Kimm J E; Arias-Vasquez, Alejandro; Smoller, Jordan W; Nichols, Thomas E; Neale, Michael C; McIntosh, Andrew M; Lee, Phil; McMahon, Francis J; Meyer-Lindenberg, Andreas; Mattheisen, Manuel; Andreassen, Ole A; Gruber, Oliver; Sachdev, Perminder S; Roiz-Santiañez, Roberto; Saykin, Andrew J; Ehrlich, Stefan; Mather, Karen A; Turner, Jessica A; Schwarz, Emanuel; Thalamuthu, Anbupalam; Shugart, Yin Yao; Ho, Yvonne YW; Martin, Nicholas G; Wright, Margaret J

2016-01-01

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between schizophrenia cases and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. The current study provides proof-of-concept (albeit based on a limited set of structural brain measures), and defines a roadmap for future studies investigating the genetic covariance between structural/functional brain phenotypes and risk for psychiatric disorders. PMID:26854805

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.

PubMed

Franke, Barbara; Stein, Jason L; Ripke, Stephan; Anttila, Verneri; Hibar, Derrek P; van Hulzen, Kimm J E; Arias-Vasquez, Alejandro; Smoller, Jordan W; Nichols, Thomas E; Neale, Michael C; McIntosh, Andrew M; Lee, Phil; McMahon, Francis J; Meyer-Lindenberg, Andreas; Mattheisen, Manuel; Andreassen, Ole A; Gruber, Oliver; Sachdev, Perminder S; Roiz-Santiañez, Roberto; Saykin, Andrew J; Ehrlich, Stefan; Mather, Karen A; Turner, Jessica A; Schwarz, Emanuel; Thalamuthu, Anbupalam; Shugart, Yin Yao; Ho, Yvonne Yw; Martin, Nicholas G; Wright, Margaret J; O'Donovan, Michael C; Thompson, Paul M; Neale, Benjamin M; Medland, Sarah E; Sullivan, Patrick F

2016-03-01

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders.

Prevalence and correlates of psychopathology in children and adolescents evaluated with the strengths and difficulties questionnaire dysregulation profile in a clinical setting.

PubMed

Carballo, Juan José; Serrano-Drozdowskyj, Elena; García Nieto, Rebeca; Díaz de Neira-Hernando, Mónica; Pérez-Fominaya, Margarita; Molina-Pizarro, Cristian Antonio; De León-Martínez, Victoria; Baca-García, Enrique

2014-01-01

The clinical presentation of children and adolescents referred to mental health services is frequently complicated by comorbid and severe affective and behavioral dysregulation. This dysregulation phenotype seems to be an indicator of overall psychopathology, symptom severity and functional impairment. Currently, this phenotype is assessed by the Child Behavior Checklist. However, the widely used Strengths and Difficulties Questionnaire (SDQ) has been recently validated to screen the Dysregulation Profile (SDQ-DP) in clinical settings. The objective of this study was to determine the prevalence and demographic, psychosocial and clinical correlates of the SDQ-DP phenotype in a Spanish clinical sample. In a clinical sample of 623 consecutively referred children and adolescents (4-17 years old), we compared clinical and sociodemographic correlates between subjects who met the SDQ-DP criteria (DP) and those who did not (NO_DP). Sociodemographic data, parent-rated SDQ, Children's Global Assessment Scale, Clinical Global Impression, family Apgar scale and clinical diagnoses were collected by experienced child and adolescent psychiatrists. Overall in our sample, 175 subjects (28.1%) met the SDQ-DP criteria (DP group). Compared with the NO_DP group, the DP subjects had significantly higher scores on internalizing and externalizing psychopathology, problems with peers and overall problems as well as significantly lower scores on prosocial behavior. Clinical diagnoses assigned revealed that DP subjects showed significantly greater psychiatric comorbidity. DP subjects also showed significantly worse family functioning and increased symptom severity and significantly lower scores on psychosocial functioning. A high prevalence of children and adolescents with the dysregulated profile, assessed by the SDQ-DP, was found in our clinical setting. The SDQ-DP may serve as an index of overall psychological severity and functional impairment. In addition, it may indicate family dysfunction. Further research is needed to validate the clinical value of SDQ-DP by examining longitudinal stability, heritability, adult outcome, risk factors and diagnostic correlates. © 2014 S. Karger AG, Basel.

Psychiatric diagnosis – is it universal or relative to culture?

PubMed Central

Canino, Glorisa; Alegría, Margarita

2009-01-01

Background There is little consensus on the extent to which psychiatric disorders or syndromes are universal or the extent to which they differ on their core definitions and constellation of symptoms as a result of cultural or contextual factors. This controversy continues due to the lack of biological markers, imprecise measurement and the lack of a gold standard for validating most psychiatric conditions. Method Empirical studies were used to present evidence in favor of or against a universalist or relativistic view of child psychiatric disorders using a model developed by Robins and Guze to determine the validity of psychiatric disorders. Results The prevalence of some of the most common specific disorders and syndromes as well as its risk and protective factors vary across cultures, yet comorbid patterns and response to treatments vary little across cultures. Cross-cultural longitudinal data on outcomes is equivocal. Conclusions The cross-cultural validity of child disorders may vary drastically depending on the disorder, but empirical evidence that attests for the cross-cultural validity of diagnostic criteria for each child disorder is lacking. There is a need for studies that investigate the extent to which gene–environment interactions are related to specific disorders across cultures. Clinicians are urged to consider culture and context in determining the way in which children’s psychopathology may be manifested independent of their views. Recommendations for the upcoming classificatory system are provided so that practical or theoretical considerations are addressed about how culture and ethnic issues affect the assessment or treatment of specific disorders in children. PMID:18333929

The oxytocin system in drug discovery for autism: Animal models and novel therapeutic strategies

PubMed Central

Modi, Meera E.; Young, Larry J.

2012-01-01

Animal models and behavioral paradigms are critical for elucidating the neural mechanism involved in complex behaviors, including social cognition. Both genotype and phenotype based models have implicated the neuropeptide oxytocin (OT) in the regulation of social behavior. Based on the findings in animal models, alteration of the OT system has been hypothesized to play a role in the social deficits associated with autism and other neuropsychiatric disorders. While the evidence linking the peptide to the etiology of the disorder is not yet conclusive, evidence from multiple animal models suggest modulation of the OT system may be a viable strategy for the pharmacological treatment of social deficits. In this review, we will discuss how animal models have been utilized to understand the role of OT in social cognition and how those findings can be applied to the conceptualization and treatment of the social impairments in ASD. Animal models with genetic alterations of the OT system, like the OT, OT receptor and CD38 knock-out mice, and those with phenotypic variation in social behavior, like BTBR inbred mice and prairie voles, coupled with behavioral paradigms with face and construct validity may prove to have predictive validity for identifying the most efficacious methods of stimulating the OT system to enhance social cognition in humans. The widespread use of strong animal models of social cognition has the potential yield pharmacological, interventions for the treatment social impairments psychiatric disorders. This article is part of a Special Issue entitled Oxytocin, Vasopressin, and Social Behavior. PMID:22206823

Diagnosis and Medication Overload? A Nurse Review of the Psychiatric Histories of Older Youth in Treatment Foster Care

ERIC Educational Resources Information Center

Narendorf, Sarah Carter; Bertram, Julie; McMillen, J. Curtis

2011-01-01

Prior research has raised concern about the appropriateness of psychotropic medication use and the validity of psychiatric diagnosing for youth in child welfare but has lacked in-depth case information. This study reports results from a psychiatric nurse review conducted with eight youth entering a foster care intervention using case records and…

Experimental psychiatric illness and drug abuse models: from human to animal, an overview.

PubMed

Edwards, Scott; Koob, George F

2012-01-01

Preclinical animal models have supported much of the recent rapid expansion of neuroscience research and have facilitated critical discoveries that undoubtedly benefit patients suffering from psychiatric disorders. This overview serves as an introduction for the following chapters describing both in vivo and in vitro preclinical models of psychiatric disease components and briefly describes models related to drug dependence and affective disorders. Although there are no perfect animal models of any psychiatric disorder, models do exist for many elements of each disease state or stage. In many cases, the development of certain models is essentially restricted to the human clinical laboratory domain for the purpose of maximizing validity, whereas the use of in vitro models may best represent an adjunctive, well-controlled means to model specific signaling mechanisms associated with psychiatric disease states. The data generated by preclinical models are only as valid as the model itself, and the development and refinement of animal models for human psychiatric disorders continues to be an important challenge. Collaborative relationships between basic neuroscience and clinical modeling could greatly benefit the development of new and better models, in addition to facilitating medications development.

Psychiatric disorders in a cohort of individuals with Prader-Willi syndrome.

PubMed

Shriki-Tal, L; Avrahamy, H; Pollak, Y; Gross-Tsur, V; Genstil, L; Hirsch, H J; Benarroch, F

2017-07-01

Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older. All individuals and their caretakers were interviewed using standardized psychiatric questionnaires. Demographic and clinical variables, Clinical Global Impression (CGI) score, IQ, severity of hyperphagia and quality of life (QOL) were also assessed and correlations with NPD (number of psychiatric diagnoses) calculated. An overwhelming majority (89%) of the study participants had at least one psychiatric diagnosis. The most common were disruptive behavior disorders (DBD) (68%), obsessive compulsive disorder (OCD) (45%) and skin picking (35%). Individuals with DBD were at increased risk for OCD and skin picking. Psychotic disorders were found in 11%. NPD had a significant negative influence on QOL. There was no correlation between NPD and BMI, IQ, hyperphagia severity, hormonal profile or genetic subtypes. Psychiatric diagnoses are very frequent in PWS and strongly influence QOL. Furthermore, characterizing the profile of psychiatric comorbidity in PWS is crucial for planning effective interventions. Precise behavioral phenotyping in PWS in combination with a well-defined genetic etiology may aid biological research linking biological correlates to behavior. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Advances in understanding behavioral phenotypes in neurogenetic syndromes.

PubMed

Harris, James C

2010-11-15

Syndrome-specific behavior was proposed by Langdon Down in his first clinical descriptions. Research interest followed but waned during the eugenics era when antisocial behavior was attributed to people with intellectual disability (ID) and the US Supreme Court legalized involuntary sterilization. When these claims were refuted and behavioral treatments introduced, their focus on environmental determination minimized the importance of biological research. The modern era began with the recognition that patterned behavior, for example, self-injury in Lesch-Nyhan syndrome and hyperphagia in PWS, was syndrome-specific, and when parent support groups pointed out syndrome-specific behavioral similarities in their children. Syndrome-specific rating scales and methodologies followed to allow behavioral comparisons between syndromes. The focus initially was on specific behaviors but with refinements in neuropsychological tests has expanded to include neurocognitive profiles. Greater clarification in genetic diagnoses has led to mutant mouse behavioral models and neurophysiologic and neuroimaging strategies have made possible the study of brain circuits. There is growing interest in investigating the developmental trajectory of behaviors from infancy to adulthood and old age. Because anxiety, mood disturbance, repetitive behaviors, and social deficits commonly occur in people with severe ID, those affected are often given multiple psychiatric diagnoses. This has led to considerable confusion in the literature. It is critical to focus on specific behaviors and cognitive patterns in research and not confuse psychiatric symptoms that lack precise definitions and involve multiple genes, the so-called psychiatric phenotype, with the more specific behavioral phenotype. New treatments based on knowledge of underlying neurobiology call for more fine-grained definition of behavior. © 2010 Wiley-Liss, Inc.

Cultural concepts of distress and psychiatric disorders: literature review and research recommendations for global mental health epidemiology

PubMed Central

Kohrt, Brandon A; Rasmussen, Andrew; Kaiser, Bonnie N; Haroz, Emily E; Maharjan, Sujen M; Mutamba, Byamah B; de Jong, Joop TVM; Hinton, Devon E

2014-01-01

Background Burgeoning global mental health endeavors have renewed debates about cultural applicability of psychiatric categories. This study’s goal is to review strengths and limitations of literature comparing psychiatric categories with cultural concepts of distress (CCD) such as cultural syndromes, culture-bound syndromes, and idioms of distress. Methods The Systematic Assessment of Quality in Observational Research (SAQOR) was adapted based on cultural psychiatry principles to develop a Cultural Psychiatry Epidemiology version (SAQOR-CPE), which was used to rate quality of quantitative studies comparing CCD and psychiatric categories. A meta-analysis was performed for each psychiatric category. Results Forty-five studies met inclusion criteria, with 18 782 unique participants. Primary objectives of the studies included comparing CCD and psychiatric disorders (51%), assessing risk factors for CCD (18%) and instrument validation (16%). Only 27% of studies met SAQOR-CPE criteria for medium quality, with the remainder low or very low quality. Only 29% of studies employed representative samples, 53% used validated outcome measures, 44% included function assessments and 44% controlled for confounding. Meta-analyses for anxiety, depression, PTSD and somatization revealed high heterogeneity (I2 > 75%). Only general psychological distress had low heterogeneity (I2 = 8%) with a summary effect odds ratio of 5.39 (95% CI 4.71-6.17). Associations between CCD and psychiatric disorders were influenced by methodological issues, such as validation designs (β = 16.27, 95%CI 12.75-19.79) and use of CCD multi-item checklists (β = 6.10, 95%CI 1.89-10.31). Higher quality studies demonstrated weaker associations of CCD and psychiatric disorders. Conclusions Cultural concepts of distress are not inherently unamenable to epidemiological study. However, poor study quality impedes conceptual advancement and service application. With improved study design and reporting using guidelines such as the SAQOR-CPE, CCD research can enhance detection of mental health problems, reduce cultural biases in diagnostic criteria and increase cultural salience of intervention trial outcomes. PMID:24366490

Two distinct symptom-based phenotypes of depression in epilepsy yield specific clinical and etiological insights.

PubMed

Rayner, Genevieve; Jackson, Graeme D; Wilson, Sarah J

2016-11-01

Depression is common but underdiagnosed in epilepsy. A quarter of patients meet criteria for a depressive disorder, yet few receive active treatment. We hypothesize that the presentation of depression is less recognizable in epilepsy because the symptoms are heterogeneous and often incorrectly attributed to the secondary effects of seizures or medication. Extending the ILAE's new phenomenological approach to classification of the epilepsies to include psychiatric comorbidity, we use data-driven profiling of the symptoms of depression to perform a preliminary investigation of whether there is a distinctive symptom-based phenotype of depression in epilepsy that could facilitate its recognition in the neurology clinic. The psychiatric and neuropsychological functioning of 91 patients with focal epilepsy was compared with that of 77 healthy controls (N=168). Cluster analysis of current depressive symptoms identified three clusters: one comprising nondepressed patients and two symptom-based phenotypes of depression. The 'Cognitive' phenotype (base rate=17%) was characterized by symptoms taking the form of self-critical cognitions and dysphoria and was accompanied by pervasive memory deficits. The 'Somatic' phenotype (7%) was characterized by vegetative depressive symptoms and anhedonia and was accompanied by greater anxiety. It is hoped that identification of the features of these two phenotypes will ultimately facilitate improved detection and diagnosis of depression in patients with epilepsy and thereby lead to appropriate and timely treatment, to the benefit of patient wellbeing and the potential efficacy of treatment of the seizure disorder. This article is part of a Special Issue entitled "The new approach to classification: Rethinking cognition and behavior in epilepsy". Copyright © 2016 Elsevier Inc. All rights reserved.

Problem behaviours and symptom dimensions of psychiatric disorders in adults with intellectual disabilities: An exploratory and confirmatory factor analysis.

PubMed

Melville, Craig A; Johnson, Paul C D; Smiley, Elita; Simpson, Neill; Purves, David; McConnachie, Alex; Cooper, Sally-Ann

2016-08-01

The limited evidence on the relationship between problem behaviours and symptoms of psychiatric disorders experienced by adults with intellectual disabilities leads to conflict about diagnostic criteria and confused treatment. This study examined the relationship between problem behaviours and other psychopathology, and compared the predictive validity of dimensional and categorical models experienced by adults with intellectual disabilities. Exploratory and confirmatory factor analyses appropriate for non-continuous data were used to derive, and validate, symptom dimensions using two clinical datasets (n=457; n=274). Categorical diagnoses were derived using DC-LD. Severity and 5-year longitudinal outcome was measured using a battery of instruments. Five factors/dimensions were identified and confirmed. Problem behaviours were included in an emotion dysregulation-problem behaviour dimension that was distinct from the depressive, anxiety, organic and psychosis dimensions. The dimensional model had better predictive validity than categorical diagnosis. International classification systems should not include problem behaviours as behavioural equivalents in diagnostic criteria for depression or other psychiatric disorders. Investigating the relevance of emotional regulation to psychopathology may provide an important pathway for development of improved interventions. There is uncertainty whether new onset problem behaviours or a change in longstanding problem behaviours should be considered as symptoms of depression or other types of psychiatric disorders in adults with intellectual disabilities. The validity of previous studies was limited by the use of pre-defined, categorical diagnoses or unreliable statistical methods. This study used robust statistical modelling to examine problem behaviours within a dimensional model of symptoms. We found that problem behaviours were included in an emotional dysregulation dimension and not in the dimension that included symptoms that are typical of depression. The dimensional model of symptoms had greater predictive validity than categorical diagnoses of psychiatric disorders. Our findings suggest that problem behaviours are a final common pathway for emotional distress in adults with intellectual disabilities so clinicians should not use a change in problem behaviours as a diagnostic criterion for depression, or other psychiatric disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

[Reliability and validity of the Turkish version of the internalized stigma of mental illness scale].

PubMed

Ersoy, Mehmet Akif; Varan, Azmi

2007-01-01

The aim of this study was to evaluate the reliability and validity of the Turkish version of the Internalized Stigma of Mental Illness Scale (ISMI) in patients with psychiatric disorders. The study included 203 patients diagnosed with various psychiatric disorders in a psychiatry outpatient clinic of a university hospital. The reliability of the scale was assessed by investigation of its internal consistency and split-half reliability. The convergent validity of the scale was demonstrated by the relationship between the Turkish form of the ISMI and various criteria scales. Cronbach's alpha value was 0.93 for the entire scale and ranged between 0.63 and 0.87 for the 5 subscales of the ISMI. In terms of convergent validity, the total score of the Turkish ISMI significantly correlated with the Beck Depression Inventory, Rosenberg Self-Esteem Scale, Sociotropy-Autonomy Scale, Brief Symptom Inventory, Multidimensional Scale of Perceived Social Support, Clinical Global Impression Scale, and Global Assessment of Functioning Scale scores. All values were in the expected direction. In the light of the findings, it was concluded that the Turkish version of ISMI could be used as a reliable and valid tool in assessing internalized stigma of the Turkish psychiatric patients.

A Structured Clinical Interview for Kleptomania (SCI-K): preliminary validity and reliability testing.

PubMed

Grant, Jon E; Kim, Suck Won; McCabe, James S

2006-06-01

Kleptomania presents difficulties in diagnosis for clinicians. This study aimed to develop and test a DSM-IV-based diagnostic instrument for kleptomania. To assess for current kleptomania the Structured Clinical Interview for Kleptomania (SCI-K) was administered to 112 consecutive subjects requesting psychiatric outpatient treatment for a variety of disorders. Reliability and validity were determined. Classification accuracy was examined using the longitudinal course of illness. The SCI-K demonstrated excellent test-retest (Phi coefficient = 0.956 (95% CI = 0.937, 0.970)) and inter-rater reliability (phi coefficient = 0.718 (95% CI = 0.506, 0.848)) in the diagnosis of kleptomania. Concurrent validity was observed with a self-report measure using DSM-IV kleptomania criteria (phi coefficient = 0.769 (95% CI = 0.653, 0.850)). Discriminant validity was observed with a measure of depression (point biserial coefficient = -0.020 (95% CI = -0.205, 0.166)). The SCI-K demonstrated both high sensitivity and specificity based on longitudinal assessment. The SCI-K demonstrated excellent reliability and validity in diagnosing kleptomania in subjects presenting with various psychiatric problems. These findings require replication in larger groups, including non-psychiatric populations, to examine their generalizability. Copyright (c) 2006 John Wiley & Sons, Ltd.

Career Choice and Longevity in U.S. Psychiatric-Mental Health Nurses.

PubMed

Alexander, Robbi K; Diefenbeck, Cynthia A; Brown, Carlton G

2015-06-01

The demand for mental health services in the United States taxes the existing care continuum and is projected to increase as federal initiatives such as the Affordable Care Act and mental health parity improve access to, and coverage for, mental health services. Quality health care providers, such as psychiatric-mental health nurses, are needed to bolster the mental health system. Prior research has focused on the unpopularity of psychiatric nursing as a career choice for nursing students. The purpose of this study is to understand how seasoned psychiatric nurses came to choose and remain in the specialty; descriptive phenomenology is used. In a face-to-face interview, eight registered nurses described their experiences with psychiatric nursing as a student, their entry into psychiatric nursing, and factors related to their longevity in the specialty. Giorgi's Existential Phenomenological Research Method was employed to analyze the interview data. Three themes emerged related to career choice: Interest Developed Prior to or While in Nursing School, Personal Relevance, and Validation of Potential. Three themes emerged related to retention: Overcoming Stereotypes to Develop Career Pride, Positive Team Dynamics, and Remaining Hopeful. Nurse educators play an important role in identifying talent, validating capability, enhancing interest, and increasing students' confidence to pursue a psychiatric nursing career, while nursing administrators and clinical specialists play a key role in retention. Findings also stimulate pertinent questions surrounding the long-term viability of the psychiatric-mental health nursing specialty.

Reliability and validity of a measure of role functioning among people with psychiatric disabilities.

PubMed

Harris, Meredith; Gladman, Beverley; Hennessy, Nicole; Lloyd, Chris; Mowry, Bryan; Waghorn, Geoffrey

2011-06-01

The aim was to investigate the reliability and validity of the Socially Valued Role Classification Scale (SRCS), a domain-specific measure of role functioning designed for use with community residents with psychiatric disabilities. Test-retest reliability, concurrent validity, face validity, consumer and clinician acceptability and utility were examined. Sixty community residents with schizophrenia or schizoaffective disorder participated in this study where the SRCS was administered by telephone. Test-retest reliability showed good or very good agreement for subscale scores (intraclass correlations (ICCs): 0.78-0.89) and for items capturing amount of participation in domain-specific activities (ICC: 0.67-1.00). Greater variation was observed for items capturing assistance required with activities (κ: 0.40-0.75), and standard of activities performed (κ: 0.43-1.00). Concurrent validity was supported by moderate to very good associations in the directions expected. Face validity, user acceptability and utility in telephone interviews were adequate. These findings add to previous psychometric evidence and support the continued development of the SRCS for use in community mental health settings. The SRCS has promising utility for occupational therapists involved in psychiatric rehabilitation outcome measurement. © 2011 Queensland Health - QCMHR. Australian Occupational Therapy Journal © 2011 Australian Association of Occupational Therapists.

Psychiatric symptoms and disorders in phenylketonuria.

PubMed

Brumm, V L; Bilder, D; Waisbren, S E

2010-01-01

Psychological and psychiatric problems are well documented across the lifespan of individuals with early-treated phenylketonuria (PKU). Early-treated children and adolescents tend to display attentional problems, school problems, lower achievement motivation, decreased social competence, decreased autonomy, and low-self-esteem. As they enter adulthood, early-treated individuals may carry forward low self-esteem and lack of autonomy but also tend to develop depressed mood, generalized anxiety, phobias, decreased positive emotions, social maturity deficits, and social isolation. The correlation between level of metabolic control and severity of symptoms suggests a biological basis of psychiatric dysfunction. Additionally, psychosocial factors such as the burden of living with a chronic illness may contribute to psychological and psychiatric outcomes in PKU. The lack of a PKU-specific psychiatric phenotype combined with the observation that not everyone with PKU is affected highlights the complexity of the problem. More research on psychiatric and psychological outcomes in PKU is required. Of particular importance is the routine monitoring of emotional, behavioral, and psychosocial symptoms in individuals with this metabolic disorder. Longitudinal studies are required to evaluate the impact of new and emerging therapies on psychiatric and psychosocial functioning in PKU. Unidentified or untreated emotional and behavioral symptoms may have a significant, lifelong impact on the quality of life and social status of patients. Copyright 2009 Elsevier Inc. All rights reserved.

Examining the validity and reliability of the Taita symptom checklist using Rasch analysis.

PubMed

Chen, Yun-Ling; Pan, Ay-Woan; Chung, LyInn; Chen, Tsyr-Jang

2015-03-01

The Taita symptom checklist (TSCL) is a standardized self-rating psychiatric symptom scale for outpatients with mental illness in Taiwan. This study aimed to examine the validity and reliability of the TSCL using Rasch analysis. The TSCL was given to 583 healthy people and 479 people with mental illness. Rasch analysis was used to examine the appropriateness of the rating scale, the unidimensionality of the scale, the differential item functioning across sex and diagnosis, and the Rasch cut-off score of the scale. Rasch analysis confirmed that the revised 37 items with a three-point rating scale of the TSCL demonstrated good internal consistency and met criteria for unidimensionality. The person and item reliability indices were high. The TSCL could reliably measure healthy participants and patients with mental illness. Differential item functioning due to sex or psychiatric diagnosis was evident for three items. A Rasch cut-off score for TSCL was produced for detecting participants' psychiatric symptoms based on an eight-level classification. The TSCL is a reliable and valid assessment to evaluate the participants' perceived disturbance of psychiatric symptoms based on Rasch analysis. Copyright © 2013. Published by Elsevier B.V.

[Diagnostic validity of attention deficit/hyperactivity disorder: from phenomenology to neurobiology (I)].

PubMed

Trujillo-Orrego, N; Pineda, D A; Uribe, L H

2012-03-01

The diagnostic criteria for the attentional deficit hyperactivity disorder (ADHD), were defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders fourth version (DSM-IV) and World Health Organization in the ICD-10. The American Psychiatric Association used an internal validity analysis to select specific behavioral symptoms associated with the disorder and to build five cross-cultural criteria for its use in the categorical diagnosis. The DSM has been utilized for clinicians and researchers as a valid and stable approach since 1968. We did a systematic review of scientific literature in Spanish and English, aimed to identify the historical origin that supports ADHD as a psychiatric construct. This comprehensive review started exploring the concept of minimal brain dysfunction, hyper-activity, inattention, impulsivity since 1932 to 2011. This paper summarize all the DSM versions that include the definition of ADHD or its equivalent, and it point out the statistical and methodological approach implemented for defining ADHD as a valid epidemiological and psychometric construct. Finally the paper discusses some considerations and suggestions for the new versions of the manual.

Psychometric Properties and Validation of the Positive and Negative Suicide Ideation (PANSI) Inventory in an Outpatient Clinical Population in Malaysia.

PubMed

Sinniah, Aishvarya; Oei, Tian P S; Chinna, Karuthan; Shah, Shamsul A; Maniam, T; Subramaniam, Ponnusamy

2015-01-01

The PANSI is a measure designed to assess the risk and protective factors related to suicidal behaviors. The present study evaluated the psychometric properties and factor structure of the Positive and Negative Suicide Ideation (PANSI) Inventory in a sample of clinical outpatients at a major hospital in Malaysia. In this study, 283 psychiatric patients and 200 medical (non-psychiatric) patients participated. All the patients completed the PANSI and seven other self-report instruments. Confirmative factor analysis supported the 2-factor oblique model. The internal consistency of the two subscales of PANSI-Negative and the PANSI-Positive were 0.93 and 0.84, respectively. In testing construct validity, PANSI showed sizable correlation with the other seven scales. Criterion validity was supported by scores on PANSI which differentiated psychiatric patients from medical patients. Logistic regression analyses showed PANSI can be used to classify the patients into suicidal or non-suicidal. The PANSI is a reliable and valid instrument to measure the severity of suicidal ideation among clinical outpatients in Malaysia.

Psychometric Properties and Validation of the Positive and Negative Suicide Ideation (PANSI) Inventory in an Outpatient Clinical Population in Malaysia

PubMed Central

Sinniah, Aishvarya; Oei, Tian P. S.; Chinna, Karuthan; Shah, Shamsul A.; Maniam, T.; Subramaniam, Ponnusamy

2015-01-01

The PANSI is a measure designed to assess the risk and protective factors related to suicidal behaviors. The present study evaluated the psychometric properties and factor structure of the Positive and Negative Suicide Ideation (PANSI) Inventory in a sample of clinical outpatients at a major hospital in Malaysia. In this study, 283 psychiatric patients and 200 medical (non-psychiatric) patients participated. All the patients completed the PANSI and seven other self-report instruments. Confirmative factor analysis supported the 2-factor oblique model. The internal consistency of the two subscales of PANSI-Negative and the PANSI-Positive were 0.93 and 0.84, respectively. In testing construct validity, PANSI showed sizable correlation with the other seven scales. Criterion validity was supported by scores on PANSI which differentiated psychiatric patients from medical patients. Logistic regression analyses showed PANSI can be used to classify the patients into suicidal or non-suicidal. The PANSI is a reliable and valid instrument to measure the severity of suicidal ideation among clinical outpatients in Malaysia. PMID:26733920

Psychiatric research: what ethical concerns do LRECs encounter? A postal survey. Local research ethics committees.

PubMed

Osborn, D P J; Fulford, K W M

2003-02-01

Psychiatric research can occasionally present particular ethical dilemmas, but it is not clear what kind of problems local research ethics committees (LRECs) actually experience in this field. We aimed to assess the type of problems that committees encounter with psychiatric research, using a postal survey of 211 LRECs. One hundred and seven (51%) of those written to replied within the time limit. Twenty eight (26%) experienced few problems with psychiatric applications. Twenty six (24%) emphasised the value of a psychiatric expert on the committee. The most common issues raised were informed consent (n=64, 60%) and confidentiality (n=17, 16%). The use of placebos (and washout periods) (n=18, 17%), the validity of psychiatric questionnaires (n=16, 15%) and overuse of psychiatric "jargon" (n=14, 13%) in psychiatric applications also raised concern. Our results suggest that LRECs have specific concerns regarding methodology, consent, and confidentiality in psychiatric research, and that they find psychiatric input invaluable.

Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: current status and future perspectives.

PubMed

Kas, Martien J; Glennon, Jeffrey C; Buitelaar, Jan; Ey, Elodie; Biemans, Barbara; Crawley, Jacqueline; Ring, Robert H; Lajonchere, Clara; Esclassan, Frederic; Talpos, John; Noldus, Lucas P J J; Burbach, J Peter H; Steckler, Thomas

2014-03-01

The establishment of robust and replicable behavioural testing paradigms with translational value for psychiatric diseases is a major step forward in developing and testing etiology-directed treatment for these complex disorders. Based on the existing literature, we have generated an inventory of applied rodent behavioural testing paradigms relevant to autism spectrum disorders (ASD). This inventory focused on previously used paradigms that assess behavioural domains that are affected in ASD, such as social interaction, social communication, repetitive behaviours and behavioural inflexibility, cognition as well as anxiety behaviour. A wide range of behavioural testing paradigms for rodents were identified. However, the level of face and construct validity is highly variable. The predictive validity of these paradigms is unknown, as etiology-directed treatments for ASD are currently not on the market. To optimise these studies, future efforts should address aspects of reproducibility and take into account data about the neurodevelopmental underpinnings and trajectory of ASD. In addition, with the increasing knowledge of processes underlying ASD, such as sensory information processes and synaptic plasticity, phenotyping efforts should include multi-level automated analysis of, for example, representative task-related behavioural and electrophysiological read-outs.

Genetic and environmental determinants of violence risk in psychotic disorders: a multivariate quantitative genetic study of 1.8 million Swedish twins and siblings

PubMed Central

Sariaslan, A; Larsson, H; Fazel, S

2016-01-01

Patients diagnosed with psychotic disorders (for example, schizophrenia and bipolar disorder) have elevated risks of committing violent acts, particularly if they are comorbid with substance misuse. Despite recent insights from quantitative and molecular genetic studies demonstrating considerable pleiotropy in the genetic architecture of these phenotypes, there is currently a lack of large-scale studies that have specifically examined the aetiological links between psychotic disorders and violence. Using a sample of all Swedish individuals born between 1958 and 1989 (n=3 332 101), we identified a total of 923 259 twin-sibling pairs. Patients were identified using the National Patient Register using validated algorithms based on International Classification of Diseases (ICD) 8–10. Univariate quantitative genetic models revealed that all phenotypes (schizophrenia, bipolar disorder, substance misuse, and violent crime) were highly heritable (h2=53–71%). Multivariate models further revealed that schizophrenia was a stronger predictor of violence (r=0.32; 95% confidence interval: 0.30–0.33) than bipolar disorder (r=0.23; 0.21–0.25), and large proportions (51–67%) of these phenotypic correlations were explained by genetic factors shared between each disorder, substance misuse, and violence. Importantly, we found that genetic influences that were unrelated to substance misuse explained approximately a fifth (21% 20–22%) of the correlation with violent criminality in bipolar disorder but none of the same correlation in schizophrenia (Pbipolar disorder<0.001; Pschizophrenia=0.55). These findings highlight the problems of not disentangling common and unique sources of covariance across genetically similar phenotypes as the latter sources may include aetiologically important clues. Clinically, these findings underline the importance of assessing risk of different phenotypes together and integrating interventions for psychiatric disorders, substance misuse, and violence. PMID:26666206

Eponymous Psychiatric Syndromes Revisited.

PubMed

Naguy, Ahmed

2018-02-22

This report provides an anthology of psychiatric eponyms. Clinically, many of these described syndromes represent valid diagnostic constructs and may accommodate the atypical cases that defy the official diagnostic designation in the current classificatory systems in psychiatry. © Copyright 2018 Physicians Postgraduate Press, Inc.

CACNA1C risk variant affects facial emotion recognition in healthy individuals.

PubMed

Nieratschker, Vanessa; Brückmann, Christof; Plewnia, Christian

2015-11-27

Recognition and correct interpretation of facial emotion is essential for social interaction and communication. Previous studies have shown that impairments in this cognitive domain are common features of several psychiatric disorders. Recent association studies identified CACNA1C as one of the most promising genetic risk factors for psychiatric disorders and previous evidence suggests that the most replicated risk variant in CACNA1C (rs1006737) is affecting emotion recognition and processing. However, studies investigating the influence of rs1006737 on this intermediate phenotype in healthy subjects at the behavioral level are largely missing to date. Here, we applied the "Reading the Mind in the Eyes" test, a facial emotion recognition paradigm in a cohort of 92 healthy individuals to address this question. Whereas accuracy was not affected by genotype, CACNA1C rs1006737 risk-allele carries (AA/AG) showed significantly slower mean response times compared to individuals homozygous for the G-allele, indicating that healthy risk-allele carriers require more information to correctly identify a facial emotion. Our study is the first to provide evidence for an impairing behavioral effect of the CACNA1C risk variant rs1006737 on facial emotion recognition in healthy individuals and adds to the growing number of studies pointing towards CACNA1C as affecting intermediate phenotypes of psychiatric disorders.

DNA Modification Study of Major Depressive Disorder: Beyond Locus-by-Locus Comparisons

PubMed Central

Oh, Gabriel; Wang, Sun-Chong; Pal, Mrinal; Chen, Zheng Fei; Khare, Tarang; Tochigi, Mamoru; Ng, Catherine; Yang, Yeqing A.; Kwan, Andrew; Kaminsky, Zachary A.; Mill, Jonathan; Gunasinghe, Cerisse; Tackett, Jennifer L.; Gottesman, Irving I.; Willemsen, Gonneke; de Geus, Eco J.C.; Vink, Jacqueline M.; Slagboom, P. Eline; Wray, Naomi R.; Heath, Andrew C.; Montgomery, Grant W.; Turecki, Gustavo; Martin, Nicholas G.; Boomsma, Dorret I.; McGuffin, Peter; Kustra, Rafal; Petronis, Art

2014-01-01

Background Major depressive disorder (MDD) exhibits numerous clinical and molecular features that are consistent with putative epigenetic misregulation. Despite growing interest in epigenetic studies of psychiatric diseases, the methodologies guiding such studies have not been well defined. Methods We performed DNA modification analysis in white blood cells from monozygotic twins discordant for MDD, in brain prefrontal cortex, and germline (sperm) samples from affected individuals and control subjects (total N = 304) using 8.1K CpG island microarrays and fine mapping. In addition to the traditional locus-by-locus comparisons, we explored the potential of new analytical approaches in epigenomic studies. Results In the microarray experiment, we detected a number of nominally significant DNA modification differences in MDD and validated selected targets using bisulfite pyrosequencing. Some MDD epigenetic changes, however, overlapped across brain, blood, and sperm more often than expected by chance. We also demonstrated that stratification for disease severity and age may increase the statistical power of epimutation detection. Finally, a series of new analytical approaches, such as DNA modification networks and machine-learning algorithms using binary and quantitative depression phenotypes, provided additional insights on the epigenetic contributions to MDD. Conclusions Mapping epigenetic differences in MDD (and other psychiatric diseases) is a complex task. However, combining traditional and innovative analytical strategies may lead to identification of disease-specific etiopathogenic epimutations. PMID:25108803

DNA modification study of major depressive disorder: beyond locus-by-locus comparisons.

PubMed

Oh, Gabriel; Wang, Sun-Chong; Pal, Mrinal; Chen, Zheng Fei; Khare, Tarang; Tochigi, Mamoru; Ng, Catherine; Yang, Yeqing A; Kwan, Andrew; Kaminsky, Zachary A; Mill, Jonathan; Gunasinghe, Cerisse; Tackett, Jennifer L; Gottesman, Irving I; Willemsen, Gonneke; de Geus, Eco J C; Vink, Jacqueline M; Slagboom, P Eline; Wray, Naomi R; Heath, Andrew C; Montgomery, Grant W; Turecki, Gustavo; Martin, Nicholas G; Boomsma, Dorret I; McGuffin, Peter; Kustra, Rafal; Petronis, Art

2015-02-01

Major depressive disorder (MDD) exhibits numerous clinical and molecular features that are consistent with putative epigenetic misregulation. Despite growing interest in epigenetic studies of psychiatric diseases, the methodologies guiding such studies have not been well defined. We performed DNA modification analysis in white blood cells from monozygotic twins discordant for MDD, in brain prefrontal cortex, and germline (sperm) samples from affected individuals and control subjects (total N = 304) using 8.1K CpG island microarrays and fine mapping. In addition to the traditional locus-by-locus comparisons, we explored the potential of new analytical approaches in epigenomic studies. In the microarray experiment, we detected a number of nominally significant DNA modification differences in MDD and validated selected targets using bisulfite pyrosequencing. Some MDD epigenetic changes, however, overlapped across brain, blood, and sperm more often than expected by chance. We also demonstrated that stratification for disease severity and age may increase the statistical power of epimutation detection. Finally, a series of new analytical approaches, such as DNA modification networks and machine-learning algorithms using binary and quantitative depression phenotypes, provided additional insights on the epigenetic contributions to MDD. Mapping epigenetic differences in MDD (and other psychiatric diseases) is a complex task. However, combining traditional and innovative analytical strategies may lead to identification of disease-specific etiopathogenic epimutations. Copyright © 2015 Society of Biological Psychiatry. All rights reserved.

A reverse-translational study of dysfunctional exploration in psychiatric disorders: from mice to men.

PubMed

Perry, William; Minassian, Arpi; Paulus, Martin P; Young, Jared W; Kincaid, Meegin J; Ferguson, Eliza J; Henry, Brook L; Zhuang, Xiaoxi; Masten, Virginia L; Sharp, Richard F; Geyer, Mark A

2009-10-01

Bipolar mania and schizophrenia are recognized as separate disorders but share many commonalities, which raises the question of whether they are the same disorder on different ends of a continuum. The lack of distinct endophenotypes of bipolar mania and schizophrenia has complicated the development of animal models that are specific to these disorders. Exploration is fundamental to survival and is dysregulated in these 2 disorders. Although exploratory behavior in rodents has been widely studied, surprisingly little work has examined this critical function in humans. To quantify the exploratory behavior of individuals with bipolar mania and schizophrenia and to identify distinctive phenotypes of these illnesses. Static group comparison by the use of a novel human open field paradigm, the human Behavioral Pattern Monitor (BPM). Psychiatric hospital. Fifteen patients with bipolar mania and 16 patients with schizophrenia were compared with 26 healthy volunteers in the human BPM. The effects of amphetamine sulfate, the selective dopamine transporter inhibitor GBR12909, and the genetic knockdown of the dopamine transporter were compared with controls in the mouse BPM. The amount of motor activity, spatial patterns of activity, and exploration of novel stimuli were quantified in both the human and mouse BPMs. Patients with bipolar mania demonstrated a unique exploratory pattern, characterized by high motor activity and increased object exploration. Patients with schizophrenia did not show the expected habituation of motor activity. Selective genetic or pharmacologic inhibition of the dopamine transporter matched the mania phenotype better than the effects of amphetamine, which has been the criterion standard for animal models of mania. These findings validate the human open field paradigm and identify defining characteristics of bipolar mania that are distinct from those of schizophrenia. This cross-species study of exploration calls into question an accepted animal model of mania and should help to develop more accurate human and animal models, which are essential to the identification of the neurobiological underpinnings of neuropsychiatric disorders.

A reverse translational study of dysfunctional exploration in psychiatric disorders: from mice to men

PubMed Central

Perry, William; Minassian, Arpi; Paulus, Martin P.; Young, Jared W.; Kincaid, Meegin J.; Ferguson, Eliza J.; Henry, Brook L.; Zhuang, Xiaoxi; Masten, Virginia L.; Sharp, Richard F.; Geyer, Mark A.

2009-01-01

Context Bipolar mania and schizophrenia are recognized as separate disorders but share many commonalities, raising the question of whether they are in fact the same disorder on different ends of a continuum. The lack of distinct endophenotypes of bipolar mania and schizophrenia has complicated the development of animal models that are specific to these disorders. Exploration is fundamental to survival and is dysregulated in these two disorders. Although exploratory behavior in rodents has been widely studied, surprisingly little work has examined this critical function in humans. Objective We used a novel human open field paradigm, the human Behavioral Pattern Monitor (BPM), to quantify exploratory behavior of individuals with bipolar mania and schizophrenia and to identify distinctive phenotypes of these illnesses. Design Static group comparison. Setting Psychiatric hospital. Participants 15 bipolar mania and 16 schizophrenia subjects were compared to 26 healthy volunteers in the human BPM. The effects of amphetamine, the selective dopamine transporter (DAT) inhibitor GBR12909, and genetic knockdown of the DAT were compared to controls in the mouse BPM. Measures The amount of motor activity, spatial patterns of activity, and exploration of novel stimuli were quantified in both the human and mouse BPMs. Results Bipolar manic subjects demonstrated a unique exploratory pattern, characterized by high motor activity and increased object exploration. Schizophrenia subjects did not show the expected habituation of motor activity. Selective genetic or pharmacological inhibition of the DAT matched the mania phenotype better than the “gold standard” model of mania (amphetamine). Conclusion These findings validate the human open field paradigm and identify defining characteristics of bipolar mania that are distinct from schizophrenia. This cross-species study of exploration calls into question an accepted animal model of mania and should help to develop more accurate human and animal models, which are essential to identify neurobiological underpinnings of neuropsychiatric disorders. PMID:19805697

[Dimensional approach of emotion in psychiatry: validation of the Positive and Negative Emotionality scale (EPN-31)].

PubMed

Pélissolo, A; Rolland, J-P; Perez-Diaz, F; Jouvent, R; Allilaire, J-F

2007-01-01

This paper reports the first validation study of the EPN-31 scale (Positive and Negative Emotionality scale, 31 items) in a French psychiatric sample. This questionnaire has been adapted by Rolland from an emotion inventory developed by Diener, and is also in accordance with Watson and Clark's tripartite model of affects. Respondents were asked to rate the frequency with which they had experienced each affect (31 basic emotional states) during the last month. The answer format was a 7-point scale, ranging from 1 "Not experienced at all" to 7 "Experienced this affect several times each day". Three main scores were calculated (positive affects, negative affects, and surprise affects), as well as six sub-scores (joy, tenderness, anger, fear, sadness, shame). Four hundred psychiatric patients were included in this study, and completed the EPN-31 scale and the Hospital Anxiety and Depression (HAD) scale. The Global Assessment of Functioning (GAF) scale was rated, as well as DSM IV diagnostic criteria. We performed a principal component analysis, with Varimax orthogonal transformation, and explored the factorial structure of the questionnaire, the internal consistency of each dimension, and the correlations between EPN-31 scores and HAD scores. The factorial structure of the EPN-31 was well-defined as expected, with a three-factor (positive, negative and surprise affects) solution accounting for 58.2% of the variance of the questionnaire. No correlation was obtained between positive and negative affects EPN-31 scores (r=0.006). All alpha Cronbach coefficients were between 0.80 and 0.95 for main scores, and between 0.72 and 0.90 for sub-scores. GAF scores were significantly correlated with EPN-31 positive affects scores (r=0.21; p=0.001) and with EPN-31 negative affects scores (r=- 0.45; p=0.001). We obtained significant correlations between positive affects score and HAD depression score (r=- 0.45; p<0.001), and between negative affects score and HAD anxiety (r=0.56; p<0.001) and depression (r=0.45; p<0.001) scores. This pattern of correlation was in accordance with the Watson tripartite model of emotionality. Significantly higher EPN-31 positive affect mean scores were observed in females when compared to males (p<0.001). The third factor of the EPN-31 is less robust than the others and, the validity of the surprise score could hence be discussed. In all, this study confirmed the validity and the interest of the EPN-31 use in psychiatric patients. Various clinical and research applications can be considered, such as infra-symptomatic studies of emotions in affective disorders and during treatment protocols or definition of phenotypic markers in genetic or neuro-imagery studies.

Crazy like a fox. Validity and ethics of animal models of human psychiatric disease.

PubMed

Rollin, Michael D H; Rollin, Bernard E

2014-04-01

Animal models of human disease play a central role in modern biomedical science. Developing animal models for human mental illness presents unique practical and philosophical challenges. In this article we argue that (1) existing animal models of psychiatric disease are not valid, (2) attempts to model syndromes are undermined by current nosology, (3) models of symptoms are rife with circular logic and anthropomorphism, (4) any model must make unjustified assumptions about subjective experience, and (5) any model deemed valid would be inherently unethical, for if an animal adequately models human subjective experience, then there is no morally relevant difference between that animal and a human.

Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy relatives and a common risk variant in CACNA1C.

PubMed

Erk, Susanne; Meyer-Lindenberg, Andreas; Schmierer, Phöbe; Mohnke, Sebastian; Grimm, Oliver; Garbusow, Maria; Haddad, Leila; Poehland, Lydia; Mühleisen, Thomas W; Witt, Stephanie H; Tost, Heike; Kirsch, Peter; Romanczuk-Seiferth, Nina; Schott, Björn H; Cichon, Sven; Nöthen, Markus M; Rietschel, Marcella; Heinz, Andreas; Walter, Henrik

2014-09-15

Variation in CACNA1C has consistently been associated with psychiatric disease in genome-wide association studies. We have previously shown that healthy carriers of the CACNA1C rs1006737 risk variant exhibit hippocampal and perigenual anterior cingulate (pgACC) dysfunction during episodic memory recall. To test whether this brain systems-level abnormality is a potential intermediate phenotype for psychiatric disorder, we studied unaffected relatives of patients with bipolar disorder, major depression, and schizophrenia. The study population comprised 188 healthy first-degree relatives of patients with bipolar disorder (n=59), major depression (n=73), and schizophrenia (n=56) and 110 comparison subjects from our discovery study who were genotyped for rs1006737 and underwent functional magnetic resonance imaging while performing an episodic memory task and psychological testing. Group comparisons were analyzed using SPM8 and PASW Statistics 20. Similar to risk allele carriers in the discovery sample, relatives of index patients exhibited hippocampal and pgACC dysfunction as well as increased scores in depression and anxiety measures, correlating negatively with hippocampal activation. Carrying the rs1006737 risk variant resulted in a stronger decrease of hippocampal and pgACC activation in relatives, indicating an additive effect of CACNA1C variation on familial risk. Our findings implicate abnormal perigenual and hippocampal activation as a promising intermediate phenotype for psychiatric disease and suggest a pathophysiologic mechanism conferred by a CACNA1C variant being implicated in risk for symptom dimensions shared among bipolar disorder, major depression, and schizophrenia. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Reimagining psychoses: an agnostic approach to diagnosis.

PubMed

Keshavan, Matcheri S; Clementz, Brett A; Pearlson, Godfrey D; Sweeney, John A; Tamminga, Carol A

2013-05-01

Current approaches to defining and classifying psychotic disorders are compromised by substantive heterogeneity within, blurred boundaries between, as well as overlaps across the various disorders in outcome, treatment response, emerging evidence regarding pathophysiology and presumed etiology. We herein review the evolution, current status and the constraints posed by classic symptom-based diagnostic approaches. We compare the continuing constructs that underlie the current classification of psychoses, and contrast those to evolving new thinking in other areas of medicine. An important limitation in current psychiatric nosology may stem from the fact that symptom-based diagnoses do not "carve nature at its joints"; while symptom-based classifications have improved our reliability, they may lack validity. Next steps in developing a more valid scientific nosology for psychoses include a) agnostic deconstruction of disease dimensions, identifying disease markers and endophenotypes; b) mapping such markers across translational domains from behaviors to molecules, c) reclustering cross-cutting bio-behavioral data using modern phenotypic and biometric approaches, and finally d) validating such entities using etio-pathology, outcome and treatment-response measures. The proposed steps of deconstruction and "bottom-up" disease definition, as elsewhere in medicine, may well provide a better foundation for developing a nosology for psychotic disorders that may have better utility in predicting outcome, treatment response and etiology, and identifying novel treatment approaches. Copyright © 2013 Elsevier B.V. All rights reserved.

Assessing risk for violence among male and female civil psychiatric patients: the HCR-20, PCL:SV, and VSC.

PubMed

Nicholls, Tonia L; Ogloff, James R P; Douglas, Kevin S

2004-01-01

This study evaluated the predictive validity of violence risk assessments conducted using the HCR-20, the Psychopathy Checklist: Screening Version (PCL:SV), and by the Violence Screening Checklist (VSC) in a sample of 268 involuntarily hospitalized male and female psychiatric patients. Information pertaining to violence and crime was coded from medical charts and correctional records. The HCR-20/PCL:SV evidenced modest non-significant associations in postdictive assessments of inpatient violence among men. Moderate to strong significant associations were found between the HCR-20/PCL:SV and inpatient violence among women. Pseudo-prospective assessments using the HCR-20 and PCL:SV resulted in moderate to large relationships with violence and crime in men and women following community discharge. It is concluded that the VSC is a promising tool for assessing acute inpatient violence risk with men. Findings offer preliminary validation of the predictive validity of the HCR-20 and PCL:SV with female civil psychiatric patients. Copyright 2004 John Wiley & Sons, Ltd.

Five systems of psychiatric classification for preschool children: do differences in validity, usefulness and reliability make for competitive or complimentary constellations?

PubMed

Postert, Christian; Averbeck-Holocher, Marlies; Beyer, Thomas; Müller, Jörg; Furniss, Tilman

2009-03-01

DSM-IV and ICD-10 have limitations in the diagnostic classification of psychiatric disorders at preschool age (0-5 years). The publication of the Diagnostic Classification 0-3 (DC:0-3) in 1994, its basically revised second edition (DC:0-3R) in 2005 and the Research Diagnostic Criteria-Preschool Age (RDC-PA) in 2004 have provided several modifications of these manuals. Taking into account the growing empirical evidence highlighting the need for a diagnostic classification system for psychiatric disorders in preschool children, the main categorical classification systems in preschool psychiatry will be presented and discussed. The paper will focus on issues of validity, usefulness and reliability in DSM-IV, ICD-10, RDC-PA, DC:0-3, and DC:0-3R. The reasons for including or excluding postulated psychiatric disorder categories for preschool children with variable degrees of empirical evidence into the different diagnostic systems will be discussed.

Structured assessment of current mental state in clinical practice: an international study of the reliability and validity of the Current Psychiatric State interview, CPS-50.

PubMed

Falloon, I R H; Mizuno, M; Murakami, M; Roncone, R; Unoka, Z; Harangozo, J; Pullman, J; Gedye, R; Held, T; Hager, B; Erickson, D; Burnett, K

2005-01-01

To develop a reliable standardized assessment of psychiatric symptoms for use in clinical practice. A 50-item interview, the Current Psychiatric State 50 (CPS-50), was used to assess 237 patients with a range of psychiatric diagnoses. Ratings were made by interviewers after a 2-day training. Comparisons of inter-rater reliability on each item and on eight clinical subscales were made across four international centres and between psychiatrists and non-psychiatrists. A principal components analysis was used to validate these clinical scales. Acceptable inter-rater reliability (intra-class coefficient > 0.80) was found for 46 of the 50 items, and for all eight subscales. There was no difference between centres or between psychiatrists and non-psychiatrists. The principal components analysis factors were similar to the clinical scales. The CPS-50 is a reliable standardized assessment of current mental status that can be used in clinical practice by all mental health professionals after brief training. Blackwell Munksgaard 2004

Annotation: Velo-Cardio-Facial Syndrome

ERIC Educational Resources Information Center

Murphy, K. C.

2005-01-01

Background: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and…

Altered Neuronal and Circuit Excitability in Fragile X Syndrome.

PubMed

Contractor, Anis; Klyachko, Vitaly A; Portera-Cailliau, Carlos

2015-08-19

Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a phenotypically complex disorder with a range of neurological and psychiatric problems. Efforts to decipher how perturbations in signaling pathways lead to the myriad alterations in synaptic and cellular functions have provided insights into the molecular underpinnings of this disorder. From this large body of data, the theme of circuit hyperexcitability has emerged as a potential explanation for many of the neurological and psychiatric symptoms in FXS. The mechanisms for hyperexcitability range from alterations in the expression or activity of ion channels to changes in neurotransmitters and receptors. Contributions of these processes are often brain region and cell type specific, resulting in complex effects on circuit function that manifest as altered excitability. Here, we review the current state of knowledge of the molecular, synaptic, and circuit-level mechanisms underlying hyperexcitability and their contributions to the FXS phenotypes. Copyright © 2015 Elsevier Inc. All rights reserved.

A phenotypic structure and neural correlates of compulsive behaviors in adolescents.

PubMed

Montigny, Chantale; Castellanos-Ryan, Natalie; Whelan, Robert; Banaschewski, Tobias; Barker, Gareth J; Büchel, Christian; Gallinat, Jürgen; Flor, Herta; Mann, Karl; Paillère-Martinot, Marie-Laure; Nees, Frauke; Lathrop, Mark; Loth, Eva; Paus, Tomas; Pausova, Zdenka; Rietschel, Marcella; Schumann, Gunter; Smolka, Michael N; Struve, Maren; Robbins, Trevor W; Garavan, Hugh; Conrod, Patricia J

2013-01-01

A compulsivity spectrum has been hypothesized to exist across Obsessive-Compulsive disorder (OCD), Eating Disorders (ED), substance abuse (SA) and binge-drinking (BD). The objective was to examine the validity of this compulsivity spectrum, and differentiate it from an externalizing behaviors dimension, but also to look at hypothesized personality and neural correlates. A community-sample of adolescents (N=1938; mean age 14.5 years), and their parents were recruited via high-schools in 8 European study sites. Data on adolescents' psychiatric symptoms, DSM diagnoses (DAWBA) and substance use behaviors (AUDIT and ESPAD) were collected through adolescent- and parent-reported questionnaires and interviews. The phenotypic structure of compulsive behaviors was then tested using structural equation modeling. The model was validated using personality variables (NEO-FFI and TCI), and Voxel-Based Morphometry (VBM) analysis. Compulsivity symptoms best fit a higher-order two factor model, with ED and OCD loading onto a compulsivity factor, and BD and SA loading onto an externalizing factor, composed also of ADHD and conduct disorder symptoms. The compulsivity construct correlated with neuroticism (r=0.638; p ≤ 0.001), conscientiousness (r=0.171; p ≤ 0.001), and brain gray matter volume in left and right orbitofrontal cortex, right ventral striatum and right dorsolateral prefrontal cortex. The externalizing factor correlated with extraversion (r=0.201; p ≤ 0.001), novelty-seeking (r=0.451; p ≤ 0.001), and negatively with gray matter volume in the left inferior and middle frontal gyri. Results suggest that a compulsivity spectrum exists in an adolescent, preclinical sample and accounts for variance in both OCD and ED, but not substance-related behaviors, and can be differentiated from an externalizing spectrum.

A Phenotypic Structure and Neural Correlates of Compulsive Behaviors in Adolescents

PubMed Central

Montigny, Chantale; Castellanos-Ryan, Natalie; Whelan, Robert; Banaschewski, Tobias; Barker, Gareth J.; Büchel, Christian; Gallinat, Jürgen; Flor, Herta; Mann, Karl; Paillère-Martinot, Marie-Laure; Nees, Frauke; Lathrop, Mark; Loth, Eva; Paus, Tomas; Pausova, Zdenka; Rietschel, Marcella; Schumann, Gunter; Smolka, Michael N.; Struve, Maren; Robbins, Trevor W.; Garavan, Hugh; Conrod, Patricia J.

2013-01-01

Background A compulsivity spectrum has been hypothesized to exist across Obsessive-Compulsive disorder (OCD), Eating Disorders (ED), substance abuse (SA) and binge-drinking (BD). The objective was to examine the validity of this compulsivity spectrum, and differentiate it from an externalizing behaviors dimension, but also to look at hypothesized personality and neural correlates. Method A community-sample of adolescents (N=1938; mean age 14.5 years), and their parents were recruited via high-schools in 8 European study sites. Data on adolescents’ psychiatric symptoms, DSM diagnoses (DAWBA) and substance use behaviors (AUDIT and ESPAD) were collected through adolescent- and parent-reported questionnaires and interviews. The phenotypic structure of compulsive behaviors was then tested using structural equation modeling. The model was validated using personality variables (NEO-FFI and TCI), and Voxel-Based Morphometry (VBM) analysis. Results Compulsivity symptoms best fit a higher-order two factor model, with ED and OCD loading onto a compulsivity factor, and BD and SA loading onto an externalizing factor, composed also of ADHD and conduct disorder symptoms. The compulsivity construct correlated with neuroticism (r=0.638; p≤0.001), conscientiousness (r=0.171; p≤0.001), and brain gray matter volume in left and right orbitofrontal cortex, right ventral striatum and right dorsolateral prefrontal cortex. The externalizing factor correlated with extraversion (r=0.201; p≤0.001), novelty-seeking (r=0.451; p≤0.001), and negatively with gray matter volume in the left inferior and middle frontal gyri. Conclusions Results suggest that a compulsivity spectrum exists in an adolescent, preclinical sample and accounts for variance in both OCD and ED, but not substance-related behaviors, and can be differentiated from an externalizing spectrum. PMID:24244633

Developing the concept of family involvement and the alienation questionnaire in the context of psychiatric care.

PubMed

Ewertzon, Mats; Lützén, Kim; Svensson, Elisabeth; Andershed, Birgitta

2008-12-01

Research shows that family members of people with a mental illness often experience a lack of involvement in the psychiatric care of their relative. An interpretation of the findings of these studies raises the question of whether the family members' experience of not being involved can be conceptualized in terms of alienation towards mental health services from their encounter with psychiatric care. In order to explore this possibility, the Family Involvement and Alienation Questionnaire (FIAQ) was constructed, guided by relevant theoretical frameworks and empirical research. The content validity of the questionnaire was evaluated by two groups of experienced researchers who had sound knowledge of the theoretical frameworks used. Validity based on the response process was evaluated by the parents of people with mental illness. The reliability of the questionnaire was evaluated by a test-retest design with a group of 15 family members. The data were analyzed by a non-parametric statistical method. The results of the validity and reliability evaluations showed that of the 46 original items in the questionnaire, 28 would be useful in exploring the concept of family involvement and alienation in the context of psychiatric care. Further, minor modifications could make the FIAQ useful in exploring these concepts in other settings.

Neuropsychological screening as a standard of care during discharge from psychiatric hospitalization: the preliminary psychometrics of the CNS Screen.

PubMed

Levy, Boaz; Celen-Demirtas, Selda; Surguladze, Tinatin; Eranio, Sara; Ellison, James

2014-03-30

Cost-prohibitive factors currently prevent a warranted integration of neuropsychological screenings into routine psychiatric evaluations, as a standard of care. To overcome this challenge, the current study examined the psychometric properties of a new computerized measure-the CNS Screen. One hundred and twenty six psychiatric inpatients completed the CNS Screen, the Montreal Cognitive Assessment (MoCA), and the Quick Inventory of Depressive Symptomatology-Self Rated (QIDS-SR₁₆) on the day of hospital discharge. Statistical analysis established convergent validity with a moderate correlation between the self-administered CNS Screen and the clinician-administered MoCA (r=0.64). Discriminant validity was implicated by a non-significant correlation with the QIDS-SR₁₆. Concurrent validity was supported by a moderate, negative correlation with patients' age (r=-0.62). In addition, consistent with previous findings, patients with psychotic disorders exhibited significantly poorer performance on the CNS Screen than patients with a mood disorder. Similarly, patients with a formal disability status scored significantly lower than other patients. The CNS Screen was well tolerated by all patients. With further development, this type of measure may provide a cost-effective approach to expanding neuropsychological screenings on inpatient psychiatric units. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Factorial validity of the Childhood Trauma Questionnaire in Italian psychiatric patients.

PubMed

Innamorati, Marco; Erbuto, Denise; Venturini, Paola; Fagioli, Francesca; Ricci, Federica; Lester, David; Amore, Mario; Girardi, Paolo; Pompili, Maurizio

2016-11-30

Early adverse experiences are associated with neurobiological changes and these may underlie the increased risk of psychopathology. The Childhood Trauma Questionnaire (CTQ-SF) is the most commonly used instrument for assessing childhood maltreatment. Thus, the aim of our study was to investigate the factorial validity of an Italian version of the CTQ-SF in a sample of psychiatric inpatients by means of confirmatory and exploratory factor analyses. The sample was composed of 471 psychiatric in-patients and out-patients (206 males and 265 females) aged 16-80 years (mean age=34.4 years [SD=16.3]) consecutively admitted to two psychiatric departments. All patients were administered the Italian version of the CTQ-SF. We tested five different factor models which lacked good fit, while the exploratory factor analysis supported the adequacy of a solution with three factors (Emotional Neglect/Abuse, Sexual Abuse, Physical Neglect/Abuse). The three factors had satisfactory internal consistency (ordinal Cronbach alphas >0.90). Our study supports results from previous research indicating the lack of structural invariance of the CTQ-SF in cross-cultural adaptations of the test, and the fact that, when measuring different types of childhood maltreatment, the difference between abuse and neglect may be not valid. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Validation of the Inventory of Depressive Symptomatology (IDS) in Cocaine Dependent Inmates.

ERIC Educational Resources Information Center

Suris, Alina; Kashner, T. Michael; Gillaspy, James A., Jr.; Biggs, Melanie; Rush, A. John

2001-01-01

While the reliability and validity of Inventory of Depressive Symptomatology (IDS) scores have been established with outpatient adults being treated in community psychiatric clinics, it has not been used in special or dually diagnosed populations. Establishes internal consistency, concurrent validity, and construct validity for both the clinical…

A Genome-wide Association Analysis of a Broad Psychosis Phenotype Identifies Three Loci for Further Investigation

PubMed Central

2014-01-01

Background Genome-wide association studies (GWAS) have identified several loci associated with schizophrenia and/or bipolar disorder. We performed a GWAS of psychosis as a broad syndrome rather than within specific diagnostic categories. Methods 1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array. Analyses of 695,193 SNPs were conducted using UNPHASED, which combines information across families and unrelated individuals. We attempted to replicate signals found in 23 genomic regions using existing data on nonoverlapping samples from the Psychiatric GWAS Consortium and Schizophrenia-GENE-plus cohorts (10,352 schizophrenia patients and 24,474 controls). Results No individual SNP showed compelling evidence for association with psychosis in our data. However, we observed a trend for association with same risk alleles at loci previously associated with schizophrenia (one-sided p = .003). A polygenic score analysis found that the Psychiatric GWAS Consortium’s panel of SNPs associated with schizophrenia significantly predicted disease status in our sample (p = 5 × 10–14) and explained approximately 2% of the phenotypic variance. Conclusions Although narrowly defined phenotypes have their advantages, we believe new loci may also be discovered through meta-analysis across broad phenotypes. The novel statistical methodology we introduced to model effect size heterogeneity between studies should help future GWAS that combine association evidence from related phenotypes. Applying these approaches, we highlight three loci that warrant further investigation. We found that SNPs conveying risk for schizophrenia are also predictive of disease status in our data. PMID:23871474

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

PubMed

Bramon, Elvira; Pirinen, Matti; Strange, Amy; Lin, Kuang; Freeman, Colin; Bellenguez, Céline; Su, Zhan; Band, Gavin; Pearson, Richard; Vukcevic, Damjan; Langford, Cordelia; Deloukas, Panos; Hunt, Sarah; Gray, Emma; Dronov, Serge; Potter, Simon C; Tashakkori-Ghanbaria, Avazeh; Edkins, Sarah; Bumpstead, Suzannah J; Arranz, Maria J; Bakker, Steven; Bender, Stephan; Bruggeman, Richard; Cahn, Wiepke; Chandler, David; Collier, David A; Crespo-Facorro, Benedicto; Dazzan, Paola; de Haan, Lieuwe; Di Forti, Marta; Dragović, Milan; Giegling, Ina; Hall, Jeremy; Iyegbe, Conrad; Jablensky, Assen; Kahn, René S; Kalaydjieva, Luba; Kravariti, Eugenia; Lawrie, Stephen; Linszen, Don H; Mata, Ignacio; McDonald, Colm; McIntosh, Andrew; Myin-Germeys, Inez; Ophoff, Roel A; Pariante, Carmine M; Paunio, Tiina; Picchioni, Marco; Ripke, Stephan; Rujescu, Dan; Sauer, Heinrich; Shaikh, Madiha; Sussmann, Jessika; Suvisaari, Jaana; Tosato, Sarah; Toulopoulou, Timothea; Van Os, Jim; Walshe, Muriel; Weisbrod, Matthias; Whalley, Heather; Wiersma, Durk; Blackwell, Jenefer M; Brown, Matthew A; Casas, Juan P; Corvin, Aiden; Duncanson, Audrey; Jankowski, Janusz A Z; Markus, Hugh S; Mathew, Christopher G; Palmer, Colin N A; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J; Trembath, Richard C; Wood, Nicholas W; Barroso, Ines; Peltonen, Leena; Lewis, Cathryn M; Murray, Robin M; Donnelly, Peter; Powell, John; Spencer, Chris C A

2014-03-01

Genome-wide association studies (GWAS) have identified several loci associated with schizophrenia and/or bipolar disorder. We performed a GWAS of psychosis as a broad syndrome rather than within specific diagnostic categories. 1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array. Analyses of 695,193 SNPs were conducted using UNPHASED, which combines information across families and unrelated individuals. We attempted to replicate signals found in 23 genomic regions using existing data on nonoverlapping samples from the Psychiatric GWAS Consortium and Schizophrenia-GENE-plus cohorts (10,352 schizophrenia patients and 24,474 controls). No individual SNP showed compelling evidence for association with psychosis in our data. However, we observed a trend for association with same risk alleles at loci previously associated with schizophrenia (one-sided p = .003). A polygenic score analysis found that the Psychiatric GWAS Consortium's panel of SNPs associated with schizophrenia significantly predicted disease status in our sample (p = 5 × 10(-14)) and explained approximately 2% of the phenotypic variance. Although narrowly defined phenotypes have their advantages, we believe new loci may also be discovered through meta-analysis across broad phenotypes. The novel statistical methodology we introduced to model effect size heterogeneity between studies should help future GWAS that combine association evidence from related phenotypes. Applying these approaches, we highlight three loci that warrant further investigation. We found that SNPs conveying risk for schizophrenia are also predictive of disease status in our data. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Word Memory Test Performance Across Cognitive Domains, Psychiatric Presentations, and Mild Traumatic Brain Injury.

PubMed

Rowland, Jared A; Miskey, Holly M; Brearly, Timothy W; Martindale, Sarah L; Shura, Robert D

2017-05-01

The current study addressed two aims: (i) determine how Word Memory Test (WMT) performance relates to test performance across numerous cognitive domains and (ii) evaluate how current psychiatric disorders or mild traumatic brain injury (mTBI) history affects performance on the WMT after excluding participants with poor symptom validity. Participants were 235 Iraq and Afghanistan-era veterans (Mage = 35.5) who completed a comprehensive neuropsychological battery. Participants were divided into two groups based on WMT performance (Pass = 193, Fail = 42). Tests were grouped into cognitive domains and an average z-score was calculated for each domain. Significant differences were found between those who passed and those who failed the WMT on the memory, attention, executive function, and motor output domain z-scores. WMT failure was associated with a larger performance decrement in the memory domain than the sensation or visuospatial-construction domains. Participants with a current psychiatric diagnosis or mTBI history were significantly more likely to fail the WMT, even after removing participants with poor symptom validity. Results suggest that the WMT is most appropriate for assessing validity in the domains of attention, executive function, motor output and memory, with little relationship to performance in domains of sensation or visuospatial-construction. Comprehensive cognitive batteries would benefit from inclusion of additional performance validity tests in these domains. Additionally, symptom validity did not explain higher rates of WMT failure in individuals with a current psychiatric diagnosis or mTBI history. Further research is needed to better understand how these conditions may affect WMT performance. Published by Oxford University Press 2016. This work is written by (a) US Government employee(s) and is in the public domain in the US.

A Complex Systems Approach to Causal Discovery in Psychiatry.

PubMed

Saxe, Glenn N; Statnikov, Alexander; Fenyo, David; Ren, Jiwen; Li, Zhiguo; Prasad, Meera; Wall, Dennis; Bergman, Nora; Briggs, Ernestine C; Aliferis, Constantin

2016-01-01

Conventional research methodologies and data analytic approaches in psychiatric research are unable to reliably infer causal relations without experimental designs, or to make inferences about the functional properties of the complex systems in which psychiatric disorders are embedded. This article describes a series of studies to validate a novel hybrid computational approach--the Complex Systems-Causal Network (CS-CN) method-designed to integrate causal discovery within a complex systems framework for psychiatric research. The CS-CN method was first applied to an existing dataset on psychopathology in 163 children hospitalized with injuries (validation study). Next, it was applied to a much larger dataset of traumatized children (replication study). Finally, the CS-CN method was applied in a controlled experiment using a 'gold standard' dataset for causal discovery and compared with other methods for accurately detecting causal variables (resimulation controlled experiment). The CS-CN method successfully detected a causal network of 111 variables and 167 bivariate relations in the initial validation study. This causal network had well-defined adaptive properties and a set of variables was found that disproportionally contributed to these properties. Modeling the removal of these variables resulted in significant loss of adaptive properties. The CS-CN method was successfully applied in the replication study and performed better than traditional statistical methods, and similarly to state-of-the-art causal discovery algorithms in the causal detection experiment. The CS-CN method was validated, replicated, and yielded both novel and previously validated findings related to risk factors and potential treatments of psychiatric disorders. The novel approach yields both fine-grain (micro) and high-level (macro) insights and thus represents a promising approach for complex systems-oriented research in psychiatry.

Lodge Programs Serving Family Functions for People with Psychiatric Disabilities.

ERIC Educational Resources Information Center

Onaga, Esther E.; McKinney, Kathleen G.; Pfaff, Judy

2000-01-01

Interviews were conducted with people affiliated with lodges, a community program for people with psychiatric disabilities, about their perceptions of promising practices. Responses validated the notion that the lodge serves many of the functions of a family. Provides excerpts from interviews to supplement this theme. Discusses implications for…

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

PubMed Central

Winthrop, Zachary A.; Salman, Rabia; Majeed, Salman

2016-01-01

Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder. PMID:28018696

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

PubMed

Battisti, Carla; Tarugi, Patrizla; Dotti, Maria Teresa; De Stefano, Nicola; Vattimo, Angelo; Chierichetti, Francesea; Calandra, Sebastiano; Federico, Antonio

2003-11-01

We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype.

The evolutionarily conserved G protein-coupled receptor SREB2/GPR85 influences brain size, behavior, and vulnerability to schizophrenia.

PubMed

Matsumoto, Mitsuyuki; Straub, Richard E; Marenco, Stefano; Nicodemus, Kristin K; Matsumoto, Shun-Ichiro; Fujikawa, Akihiko; Miyoshi, Sosuke; Shobo, Miwako; Takahashi, Shinji; Yarimizu, Junko; Yuri, Masatoshi; Hiramoto, Masashi; Morita, Shuji; Yokota, Hiroyuki; Sasayama, Takeshi; Terai, Kazuhiro; Yoshino, Masayasu; Miyake, Akira; Callicott, Joseph H; Egan, Michael F; Meyer-Lindenberg, Andreas; Kempf, Lucas; Honea, Robyn; Vakkalanka, Radha Krishna; Takasaki, Jun; Kamohara, Masazumi; Soga, Takatoshi; Hiyama, Hideki; Ishii, Hiroyuki; Matsuo, Ayako; Nishimura, Shintaro; Matsuoka, Nobuya; Kobori, Masato; Matsushime, Hitoshi; Katoh, Masao; Furuichi, Kiyoshi; Weinberger, Daniel R

2008-04-22

The G protein-coupled receptor (GPCR) family is highly diversified and involved in many forms of information processing. SREB2 (GPR85) is the most conserved GPCR throughout vertebrate evolution and is expressed abundantly in brain structures exhibiting high levels of plasticity, e.g., the hippocampal dentate gyrus. Here, we show that SREB2 is involved in determining brain size, modulating diverse behaviors, and potentially in vulnerability to schizophrenia. Mild overexpression of SREB2 caused significant brain weight reduction and ventricular enlargement in transgenic (Tg) mice as well as behavioral abnormalities mirroring psychiatric disorders, e.g., decreased social interaction, abnormal sensorimotor gating, and impaired memory. SREB2 KO mice showed a reciprocal phenotype, a significant increase in brain weight accompanying a trend toward enhanced memory without apparent other behavioral abnormalities. In both Tg and KO mice, no gross malformation of brain structures was observed. Because of phenotypic overlap between SREB2 Tg mice and schizophrenia, we sought a possible link between the two. Minor alleles of two SREB2 SNPs, located in intron 2 and in the 3' UTR, were overtransmitted to schizophrenia patients in a family-based sample and showed an allele load association with reduced hippocampal gray matter volume in patients. Our data implicate SREB2 as a potential risk factor for psychiatric disorders and its pathway as a target for psychiatric therapy.

Patient-based health status assessments in an outpatient psychiatry setting.

PubMed

Adler, D A; Bungay, K M; Cynn, D J; Kosinski, M

2000-03-01

The reliability, validity, and feasibility of the routine use of a generic health status instrument, the Short-Form-36 Health Survey (SF-36), were examined in a psychiatric outpatient clinic of a general hospital. The sample comprised 411 patients referred to an outpatient psychiatry department between April 1994 and March 1995. They filled out the SF-36 along with their admission forms. Scores and reports were generated, and the results were returned to the charts and used at weekly clinical conference discussions. Feasibility was evaluated using subjective and objective data on administration of the instrument, its psychometric properties, and costs. Results from the outpatient psychiatry patients were compared with those from patients scheduled for elective surgery and a healthy normative sample. Routine administration of the SF-36 was successfully achieved with minimal resistance from staff and patients. The SF-36 provided reliable and valid data. As predicted, patients with emotional disorders scored lower, indicating more impairment, on scales measuring mental health than did the elective surgery patients and the normative sample. However, the psychiatric patients' scores on the physical health scale were lower than clinicians expected. Compared with the elective surgery patients, the psychiatric patients were less impaired on only the physical functioning and bodily pain scales; no difference was found between the two groups in role functioning due to physical problems. Routine use of the SF-36 in a general hospital psychiatric outpatient clinic was feasible, and the results were reliable, valid, and helpful to clinicians. Psychiatric patients' significantly lower scores in physical health and social and role functioning provided additional information about their difficulties.

psygenet2r: a R/Bioconductor package for the analysis of psychiatric disease genes.

PubMed

Gutiérrez-Sacristán, Alba; Hernández-Ferrer, Carles; González, Juan R; Furlong, Laura I

2017-12-15

Psychiatric disorders have a great impact on morbidity and mortality. Genotype-phenotype resources for psychiatric diseases are key to enable the translation of research findings to a better care of patients. PsyGeNET is a knowledge resource on psychiatric diseases and their genes, developed by text mining and curated by domain experts. We present psygenet2r, an R package that contains a variety of functions for leveraging PsyGeNET database and facilitating its analysis and interpretation. The package offers different types of queries to the database along with variety of analysis and visualization tools, including the study of the anatomical structures in which the genes are expressed and gaining insight of gene's molecular function. Psygenet2r is especially suited for network medicine analysis of psychiatric disorders. The package is implemented in R and is available under MIT license from Bioconductor (http://bioconductor.org/packages/release/bioc/html/psygenet2r.html). juanr.gonzalez@isglobal.org or laura.furlong@upf.edu. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

Text mining and expert curation to develop a database on psychiatric diseases and their genes

PubMed Central

Gutiérrez-Sacristán, Alba; Bravo, Àlex; Portero-Tresserra, Marta; Valverde, Olga; Armario, Antonio; Blanco-Gandía, M.C.; Farré, Adriana; Fernández-Ibarrondo, Lierni; Fonseca, Francina; Giraldo, Jesús; Leis, Angela; Mané, Anna; Mayer, M.A.; Montagud-Romero, Sandra; Nadal, Roser; Ortiz, Jordi; Pavon, Francisco Javier; Perez, Ezequiel Jesús; Rodríguez-Arias, Marta; Serrano, Antonia; Torrens, Marta; Warnault, Vincent; Sanz, Ferran

2017-01-01

Abstract Psychiatric disorders constitute one of the main causes of disability worldwide. During the past years, considerable research has been conducted on the genetic architecture of such diseases, although little understanding of their etiology has been achieved. The difficulty to access up-to-date, relevant genotype-phenotype information has hampered the application of this wealth of knowledge to translational research and clinical practice in order to improve diagnosis and treatment of psychiatric patients. PsyGeNET (http://www.psygenet.org/) has been developed with the aim of supporting research on the genetic architecture of psychiatric diseases, by providing integrated and structured accessibility to their genotype–phenotype association data, together with analysis and visualization tools. In this article, we describe the protocol developed for the sustainable update of this knowledge resource. It includes the recruitment of a team of domain experts in order to perform the curation of the data extracted by text mining. Annotation guidelines and a web-based annotation tool were developed to support the curators’ tasks. A curation workflow was designed including a pilot phase and two rounds of curation and analysis phases. Negative evidence from the literature on gene–disease associations (GDAs) was taken into account in the curation process. We report the results of the application of this workflow to the curation of GDAs for PsyGeNET, including the analysis of the inter-annotator agreement and suggest this model as a suitable approach for the sustainable development and update of knowledge resources. Database URL: http://www.psygenet.org PsyGeNET corpus: http://www.psygenet.org/ds/PsyGeNET/results/psygenetCorpus.tar PMID:29220439

Behavioral, neurochemical and morphological changes induced by the overexpression of munc18-1a in brain of mice: relevance to schizophrenia

PubMed Central

Urigüen, L; Gil-Pisa, I; Munarriz-Cuezva, E; Berrocoso, E; Pascau, J; Soto-Montenegro, M L; Gutiérrez-Adán, A; Pintado, B; Madrigal, J L M; Castro, E; Sánchez-Blázquez, P; Ortega, J E; Guerrero, M J; Ferrer-Alcon, M; García-Sevilla, J A; Micó, J A; Desco, M; Leza, J C; Pazos, Á; Garzón, J; Meana, J J

2013-01-01

Overexpression of the mammalian homolog of the unc-18 gene (munc18-1) has been described in the brain of subjects with schizophrenia. Munc18-1 protein is involved in membrane fusion processes, exocytosis and neurotransmitter release. A transgenic mouse strain that overexpresses the protein isoform munc18-1a in the brain was characterized. This animal displays several schizophrenia-related behaviors, supersensitivity to hallucinogenic drugs and deficits in prepulse inhibition that reverse after antipsychotic treatment. Relevant brain areas (that is, cortex and striatum) exhibit reduced expression of dopamine D1 receptors and dopamine transporters together with enhanced amphetamine-induced in vivo dopamine release. Magnetic resonance imaging demonstrates decreased gray matter volume in the transgenic animal. In conclusion, the mouse overexpressing brain munc18-1a represents a new valid animal model that resembles functional and structural abnormalities in patients with schizophrenia. The animal could provide valuable insights into phenotypic aspects of this psychiatric disorder. PMID:23340504

Targeted Metabolomic Pathway Analysis and Validation Revealed Glutamatergic Disorder in the Prefrontal Cortex among the Chronic Social Defeat Stress Mice Model of Depression.

PubMed

Wang, Wei; Guo, Hua; Zhang, Shu-Xiao; Li, Juan; Cheng, Ke; Bai, Shun-Jie; Yang, De-Yu; Wang, Hai-Yang; Liang, Zi-Hong; Liao, Li; Sun, Lin; Xie, Peng

2016-10-07

Major depressive disorder (MDD) is a severe psychiatric disease that has critically affected life quality for millions of people. Chronic stress is gradually recognized as a primary pathogenesis risk factor of MDD. Despite the remarkable progress in mechanism research, the pathogenesis mechanism of MDD is still not well understood. Therefore, we conducted a liquid chromatography-tandem mass spectrometry (LC-MS/MS) detection of 25 major metabolites of tryptophanic, GABAergic, and catecholaminergic pathways in the prefontal cortex (PFC) of mice in chronic social defeat stress (CSDS). The depressed mice exhibit significant reduction of glutamate in the GABAergic pathway and an increase of L-DOPA and vanillylmandelic acid in catecholaminergic pathways. The data of real-time-quantitative polymerase chain reaction (RT-qPCR) and Western blotting analysis revealed an altered level of glutamatergic circuitry. The metabolomic and molecular data reveal that the glutamatergic disorder in mice shed lights to reveal a mechanism on depression-like and stress resilient phenotype.

CANFOR Portuguese version: validation study.

PubMed

Talina, Miguel; Thomas, Stuart; Cardoso, Ana; Aguiar, Pedro; Caldas de Almeida, Jose M; Xavier, Miguel

2013-05-30

The increase in prisoner population is a troublesome reality in several regions of the world. Along with this growth there is increasing evidence that prisoners have a higher proportion of mental illnesses and suicide than the general population. In order to implement strategies that address criminal recidivism and the health and social status of prisoners, particularly in mental disordered offenders, it is necessary to assess their care needs in a comprehensive, but individual perspective. This assessment must include potential harmful areas like comorbid personality disorder, substance misuse and offending behaviours. The Camberwell Assessment of Need - Forensic Version (CANFOR) has proved to be a reliable tool designed to accomplish such aims. The present study aimed to validate the CANFOR Portuguese version. The translation, adaptation to the Portuguese context, back-translation and revision followed the usual procedures. The sample comprised all detainees receiving psychiatric care in four forensic facilities, over a one year period. A total of 143 subjects, and respective case manager, were selected. The forensic facilities were chosen by convenience: one prison hospital psychiatric ward (n=68; 47.6%), one male (n=24; 16.8%) and one female (n=22; 15.4%) psychiatric clinic and one civil security ward (n=29; 20.3%), all located nearby Lisbon. Basic descriptive statistics and Kappa weighted coefficients were calculated for the inter-rater and the test-retest reliability studies. The convergent validity was evaluated using the Global Assessment of Functioning and the Brief Psychiatric Rating Scale scores. The majority of the participants were male and single, with short school attendance, and accused of a crime involving violence against persons. The most frequent diagnosis was major depression (56.1%) and almost half presented positive suicide risk. The reliability study showed average Kappa weighted coefficients of 0.884 and 0.445 for inter-rater and test-retest agreement, respectively. The convergent validity study presented highly significant correlations between unmet needs scores, GAF and BPRS scores. The CANFOR Portuguese version revealed similar psychometric properties to the original English version. Moreover, the results of the reliability and validity studies indicate that the tool is appropriate for individual care needs assessment and as a guide for the mental health and social interventions in forensic psychiatric services.

Psychometric properties of the defense style questionnaire (DSQ-40) in adolescents.

PubMed

Ruuttu, Titta; Pelkonen, Mirjami; Holi, Matti; Karlsson, Linnea; Kiviruusu, Olli; Heilä, Hannele; Tuisku, Virpi; Tuulio-Henriksson, Annamari; Marttunen, Mauri

2006-02-01

This study examined the psychometric properties of the Defense Style Questionnaire (DSQ-40) in adolescents. Internal consistency, factor structure, and discriminant and concurrent validity of the DSQ-40 were studied in 211 adolescent psychiatric outpatients aged 13 to 19 years and 199 age-matched and sex-matched controls. Principal components analysis yielded four internally consistent components: mature, neurotic, image-distorting, and immature defense styles. The outpatients reported more immature, image-distorting, and neurotic styles and less mature style than did the controls, suggesting adequate discriminant validity. As a demonstration of convergent and concurrent validity, the severity of psychiatric symptoms assessed by the General Health Questionnaire and psychosocial adjustment assessed by the Global Assessment of Functioning Scale correlated theoretically meaningfully with the different defense styles. The DSQ-40 appears to be a reliable and valid instrument for adolescents.

Validity of the Miller forensic assessment of symptoms test in psychiatric inpatients.

PubMed

Veazey, Connie H; Wagner, Alisha L; Hays, J Ray; Miller, Holly A

2005-06-01

This study investigated the validity of the Miller Forensic Assessment of Symptoms Test (M-FAST), a brief measure of malingering, in an inpatient psychiatric sample of 70. Among those patients who also completed the Personality Assessment Inventory (N=44), Total M-FAST score was related in the expected directions to the Personality Assessment Inventory validity scales and indexes, providing evidence for concurrent validity of the M-FAST. With the PAI malingering index used as a criterion, we examined the diagnostic efficiency of the M-FAST and found a cut score of 8 represented the best balance of sensitivity, specificity, positive predictive power, and negative predictive power. Based on this cut-score of 8, 16% of the population was classified as malingering. The M-FAST appears to be an excellent rapid screen for symptom exaggeration in this population and setting.

Adaptation and evaluation of the Family Involvement and Alienation Questionnaire for use in the care of older people, psychiatric care, palliative care and diabetes care.

PubMed

Ewertzon, Mats; Alvariza, Anette; Winnberg, Elisabeth; Leksell, Janeth; Andershed, Birgitta; Goliath, Ida; Momeni, Pardis; Kneck, Åsa; Skott, Maria; Årestedt, Kristofer

2018-03-31

To adapt the Family Involvement and Alienation Questionnaire (FIAQ) for use in the care of older people, psychiatric care, palliative care and diabetes care and to evaluate its validity and reliability. Involvement in the professional care has proven to be important for family members. However, they have described feelings of alienation in relation to how they experienced the professionals' approach. To explore this issue, a broad instrument that can be used in different care contexts is needed. A psychometric evaluation study, with a cross-sectional design. The content validity of the FIAQ was evaluated during 2014 by cognitive interviews with 15 family members to adults in different care contexts. Psychometric evaluation was then conducted (2015-2016). A sample of 325 family members participated, 103 of whom in a test-retest evaluation. Both parametric and non-parametric methods were used. The content validity revealed that the questionnaire was generally understood and considered to be relevant and retrievable by family members in the contexts of the care of older people, psychiatric care, palliative care and diabetes care. Furthermore, the FIAQ (Revised), demonstrated satisfactory psychometric properties in terms of data quality, homogeneity, unidimensionality (factor structure), internal consistency and test-retest reliability. The study provides evidence that the FIAQ (Revised) is reliable and valid for use in further research and in quality assessment in the contexts of the care of older people, psychiatric care, palliative care and diabetes care. © 2018 John Wiley & Sons Ltd.

Female orgasm rates are largely independent of other traits: implications for "female orgasmic disorder" and evolutionary theories of orgasm.

PubMed

Zietsch, Brendan P; Miller, Geoffrey F; Bailey, J Michael; Martin, Nicholas G

2011-08-01

The criteria for "female orgasmic disorder" (FOD) assume that low rates of orgasm are dysfunctional, implying that high rates are functional. Evolutionary theories about the function of female orgasm predict correlations of orgasm rates with sexual attitudes and behavior and other fitness-related traits. To test hypothesized evolutionary functions of the female orgasm. We examined such correlations in a community sample of 2,914 adult female Australian twins who reported their orgasm rates during masturbation, intercourse, and other sexual activities, and who completed demographic, personality, and sexuality questionnaires. Orgasm rates during intercourse, other sex, and masturbation. Although orgasm rates showed high variance across women and substantial heritability, they were largely phenotypically and genetically independent of other important traits. We found zero to weak phenotypic correlations between all three orgasm rates and all other 19 traits examined, including occupational status, social class, educational attainment, extraversion, neuroticism, psychoticism, impulsiveness, childhood illness, maternal pregnancy stress, marital status, political liberalism, restrictive attitudes toward sex, libido, lifetime number of sex partners, risky sexual behavior, masculinity, orientation toward uncommitted sex, age of first intercourse, and sexual fantasy. Furthermore, none of the correlations had significant genetic components. These findings cast doubt on most current evolutionary theories about female orgasm's adaptive functions, and on the validity of FOD as a psychiatric construct. © 2011 International Society for Sexual Medicine.

Assessment of Psychiatrically Hospitalized Suicidal Adolescents: Self-Report Instruments as Predictors of Suicidal Thoughts and Behavior

ERIC Educational Resources Information Center

Huth-Bocks, Alissa C.; Kerr, David C. R.; Ivey, Asha Z.; Kramer, Anne C.; King, Cheryl A.

2007-01-01

Objective: The validity and clinical utility of the Reynolds Adolescent Depression Scale, Beck Hopelessness Scale, Suicidal Ideation Questionnaire-Junior, and Suicide Probability Scale (SPS) were examined longitudinally among suicidal adolescents. Method: Between 1998 and 2000, 289 psychiatrically hospitalized, suicidal youth, ages 12 to 17 years,…

Child and adolescent experience of and satisfaction with psychiatric care: a critical review of the research literature.

PubMed

Biering, P

2010-02-01

This review paper contributes to better understanding of child and adolescent perception of quality of psychiatric care and should therefore be of interests for those who are concerned with the development and improvement of psychiatric care. * The review shows that the concept of patient satisfaction in child and adolescent psychiatric care is still underdeveloped and that few valid instruments have been developed to measure the concept. * The review helps to clarify the concept of adolescent satisfaction with psychiatric care by indentifying the universal components of the concept. * The paper concludes that children's perception of quality of care differs from their parents' and that quality assessment of children and adolescents needs to be heeded. Abstract Users' perspectives ought to be a determining factor for assessing the quality of psychiatric care and hence their perspectives need to be thoroughly understood. There is a lack of comprehensive knowledge of how children and adolescents perceive the quality of their psychiatric care. Therefore, the purpose of this paper is to critically review and synthesize findings from research on youth experience and satisfaction with psychiatric care. The review finds that knowledge about youth perception of quality of care is scattered and that few researchers consider previous findings. There are few valid instruments to measure child and adolescent patient satisfaction and few studies have considered these users' perceptions. These few studies indicate that adolescents' satisfaction has three universal components: satisfaction with environment and the organization of services; with user-caregiver relationship; and with treatment outcome. However, instruments that only use these factors lack sensitivity, while instruments that measure specific components of services capture differences in satisfaction between user groups. The review shows that parents and children have different mental care needs, and that the assessments by children and adolescents of their psychiatric care should be heeded.

Development and preliminary validation of the Level of Care Index (LOCI) from the Personality Assessment Inventory (PAI) in a psychiatric sample.

PubMed

Sinclair, Samuel Justin; Slavin-Mulford, Jenelle; Antonius, Daniel; Stein, Michelle B; Siefert, Caleb J; Haggerty, Greg; Malone, Johanna C; O'Keefe, Sheila; Blais, Mark A

2013-06-01

Research over the last decade has been promising in terms of the incremental utility of psychometric tools in predicting important clinical outcomes, such as mental health service utilization and inpatient psychiatric hospitalization. The purpose of this study was to develop and validate a new Level of Care Index (LOCI) from the Personality Assessment Inventory (PAI). Logistic regression was initially used in a development sample (n = 253) of psychiatric patients to identify unique PAI indicators associated with inpatient (n = 75) as opposed to outpatient (n = 178) status. Five PAI variables were ultimately retained (Suicidal Ideation, Antisocial Personality-Stimulus Seeking, Paranoia-Persecution, Negative Impression Management, and Depression-Affective) and were then aggregated into a single LOCI and independently evaluated in a second validation sample (n = 252). Results indicated the LOCI effectively differentiated inpatients from outpatients after controlling for demographic variables and was significantly associated with both internalizing and externalizing risk factors for psychiatric admission (range of ds = 0.46 for history of arrests to 0.88 for history of suicidal ideation). The LOCI was additionally found to be meaningfully associated with measures of normal personality, performance-based tests of psychological functioning, and measures of neurocognitive (executive) functioning. The clinical implications of these findings and potential utility of the LOCI are discussed. PsycINFO Database Record (c) 2013 APA, all rights reserved.

Convergent functional genomic studies of ω-3 fatty acids in stress reactivity, bipolar disorder and alcoholism.

PubMed

Le-Niculescu, H; Case, N J; Hulvershorn, L; Patel, S D; Bowker, D; Gupta, J; Bell, R; Edenberg, H J; Tsuang, M T; Kuczenski, R; Geyer, M A; Rodd, Z A; Niculescu, A B

2011-04-26

Omega-3 fatty acids have been proposed as an adjuvant treatment option in psychiatric disorders. Given their other health benefits and their relative lack of toxicity, teratogenicity and side effects, they may be particularly useful in children and in females of child-bearing age, especially during pregnancy and postpartum. A comprehensive mechanistic understanding of their effects is needed. Here we report translational studies demonstrating the phenotypic normalization and gene expression effects of dietary omega-3 fatty acids, specifically docosahexaenoic acid (DHA), in a stress-reactive knockout mouse model of bipolar disorder and co-morbid alcoholism, using a bioinformatic convergent functional genomics approach integrating animal model and human data to prioritize disease-relevant genes. Additionally, to validate at a behavioral level the novel observed effects on decreasing alcohol consumption, we also tested the effects of DHA in an independent animal model, alcohol-preferring (P) rats, a well-established animal model of alcoholism. Our studies uncover sex differences, brain region-specific effects and blood biomarkers that may underpin the effects of DHA. Of note, DHA modulates some of the same genes targeted by current psychotropic medications, as well as increases myelin-related gene expression. Myelin-related gene expression decrease is a common, if nonspecific, denominator of neuropsychiatric disorders. In conclusion, our work supports the potential utility of omega-3 fatty acids, specifically DHA, for a spectrum of psychiatric disorders such as stress disorders, bipolar disorder, alcoholism and beyond.

Psychometric evaluation of an inpatient consumer survey measuring satisfaction with psychiatric care.

PubMed

Ortiz, Glorimar; Schacht, Lucille

2012-01-01

Measurement of consumers' satisfaction in psychiatric settings is important because it has been correlated with improved clinical outcomes and administrative measures of high-quality care. These consumer satisfaction measurements are actively used as performance measures required by the accreditation process and for quality improvement activities. Our objectives were (i) to re-evaluate, through exploratory factor analysis (EFA) and confirmatory factor analysis (CFA), the structure of an instrument intended to measure consumers' satisfaction with care in psychiatric settings and (ii) to examine and publish the psychometric characteristics, validity and reliability, of the Inpatient Consumer Survey (ICS). To psychometrically test the structure of the ICS, 34 878 survey results, submitted by 90 psychiatric hospitals in 2008, were extracted from the Behavioral Healthcare Performance Measurement System (BHPMS). Basic descriptive item-response and correlation analyses were performed for total surveys. Two datasets were randomly created for analysis. A random sample of 8229 survey results was used for EFA. Another random sample of 8261 consumer survey results was used for CFA. This same sample was used to perform validity and reliability analyses. The item-response analysis showed that the mean range for a disagree/agree five-point scale was 3.10-3.94. Correlation analysis showed a strong relationship between items. Six domains (dignity, rights, environment, empowerment, participation, and outcome) with internal reliabilities between good to moderate (0.87-0.73) were shown to be related to overall care satisfaction. Overall reliability for the instrument was excellent (0.94). Results from CFA provided support for the domains structure of the ICS proposed through EFA. The overall findings from this study provide evidence that the ICS is a reliable measure of consumer satisfaction in psychiatric inpatient settings. The analysis has shown the ICS to provide valid and reliable results and to focus on the specific concerns of consumers of psychiatric inpatient care. Scores by item indicate that opportunity for improvement exists across healthcare organizations.

Assessing Adolescent Mindfulness: Validation of an Adapted Mindful Attention Awareness Scale in Adolescent Normative and Psychiatric Populations

ERIC Educational Resources Information Center

Brown, Kirk Warren; West, Angela Marie; Loverich, Tamara M.; Biegel, Gina M.

2011-01-01

Interest in mindfulness-based interventions for children and adolescents is burgeoning, bringing with it the need for validated instruments to assess mindfulness in youths. The present studies were designed to validate among adolescents a measure of mindfulness previously validated for adults (e.g., Brown & Ryan, 2003), which we herein call…

Further Validation of the IDAS: Evidence of Convergent, Discriminant, Criterion, and Incremental Validity

ERIC Educational Resources Information Center

Watson, David; O'Hara, Michael W.; Chmielewski, Michael; McDade-Montez, Elizabeth A.; Koffel, Erin; Naragon, Kristin; Stuart, Scott

2008-01-01

The authors explicated the validity of the Inventory of Depression and Anxiety Symptoms (IDAS; D. Watson et al., 2007) in 2 samples (306 college students and 605 psychiatric patients). The IDAS scales showed strong convergent validity in relation to parallel interview-based scores on the Clinician Rating version of the IDAS; the mean convergent…

On the validity of the Middlesex Hospital Questionnaire: a comparison of diagnostic self-ratings in psychiatric out-patients, general practice patients, and 'normals' based on the Hebrew version.

PubMed

Dasberg, H; Shalif, I

1978-09-01

The short clinical diagnostic self-rating scale for psycho-neurotic patients (The Middlesex Hospital Questionnaire) was translated into everyday Hebrew and tested on 216 subjects for: (1) concurrent validity with clinical diagnoses; (2) discriminatory validity on a psychoneurotic gradient of psychiatric out-patients, general practice patients, and normal controls; (3) validity of subscales and discrete items using matrices of Spearman rank correlation coefficients; (4) construct validity using Guttman's smallest space analysis based on coefficients of similarity. The Hebrew MHQ was found to retain its validity and to be easily applicable in waiting-room situations. It is a useful method for generating and substantiating hypotheses on psychosomatic and psychosocial interrelationships. The MHQ seems to enable the expression of the 'neurotic load' of a general practice subpopulation as a centile on a scale, thereby corroborating previous epidemiological findings on the high prevalence of neurotic illness in general practice. There is reason to believe that the MHQ is a valid instrument for the analysis of symptom profiles of subjects involved in future drug trials.

An evaluation of the Psychache Scale on an offender population.

PubMed

Mills, Jeremy F; Green, Kate; Reddon, John R

2005-10-01

This study examined the generalizability of a self-report measure of psychache to an offender population. The factor structure, construct validity, and criterion validity of the Psychache Scale was assessed on 136 male prison inmates. The results showed the Psychache Scale has a single underlying factor structure and to be strongly associated with measures of depression and hopelessness and moderately associated with psychiatric symptoms and the criterion variable of a history of prior suicide attempts. The variables of depression, hopelessness, and psychiatric symptoms all contributed unique variance to psychache. Discussion centers on psychache's theoretical application to the prediction of suicide.

Combining Patient-Reprogrammed Neural Cells and Proteomics as a Model to Study Psychiatric Disorders.

PubMed

Zuccoli, Giuliana S; Martins-de-Souza, Daniel; Guest, Paul C; Rehen, Stevens K; Nascimento, Juliana Minardi

2017-01-01

The mechanisms underlying the pathophysiology of psychiatric disorders are still poorly known. Most of the studies about these disorders have been conducted on postmortem tissue or in limited preclinical models. The development of human induced pluripotent stem cells (iPSCs) has helped to increase the translational capacity of molecular profiling studies of psychiatric disorders through provision of human neuronal-like tissue. This approach consists of generation of pluripotent cells by genetically reprogramming somatic cells to produce the multiple neural cell types as observed within the nervous tissue. The finding that iPSCs can recapitulate the phenotype of the donor also affords the possibility of using this approach to study both the disease and control states in a given medical area. Here, we present a protocol for differentiation of human pluripotent stem cells to neural progenitor cells followed by subcellular fractionation which allows the study of specific cellular organelles and proteomic analysis.

Huntington's Disease: Relationship Between Phenotype and Genotype.

PubMed

Sun, Yi-Min; Zhang, Yan-Bin; Wu, Zhi-Ying

2017-01-01

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG triplet repeat and the modified factors. Here, we reviewed the recent advancement on the genotype-phenotype relationship of HD, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3' end of CAG triplet repeat and their effects on the phenotype. We also reviewed the special forms of HD (juvenile HD, atypical onset HD, and homozygous HD) and their phenotype-genotype correlations. The review will aid clinicians to predict the onset age and disease course of HD, give the genetic counseling, and accelerate research into the HD mechanism.

Evidence for a chromosome 22q susceptibility locus for some schizophrenics

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pulver, A.E.; Wolyniec, P.; Nestadt, G.

Recent reports from linkage studies suggests that in some families there may be a gene associated with schizophrenia on chromosome 22q. Given the probable heterogeneity of schizophrenia, further exploration of this region was undertaken. The region was examined for candidate genes and diseases reported to have some psychiatric manifestations. Studies were initiated to examine the the potential phenotypic and molecular similarity between schizophrenia and velo-cardio-facial syndrome (VCFS), a syndrome associated with an interstitial deletion of 22q11.2. Phenotypic expression: (1) psychiatric evaluations of VCFS patients and their relatives found a high rate of DSM III-R schizophrenia in the patients and ofmore » psychotic illness in their 2nd and 3rd degree relatives. (2) 160 schizophrenic patients from the Maryland Epidemiology Sample (MES) were evaluated for the presence of typical facies seen in VCFS. Rating a 5-point scale, {open_quotes}5{close_quotes} being most likely, 15 (9.4%) were rated {open_quotes}5{close_quotes} and 27 (16.9%) were rated {open_quotes}4{close_quotes} for the VCFS-like facial features. Molecular characteristics: fluorescent in situ hybridization methods (FISH) identified 3 schizophrenics among 60 in the MES with the microdeletion of probe sc11.lab commonly deleted in VCFS subjects. This work provides a model for the mapping of complex phenotypes such schizophrenia using both genetic and epidemiological methods.« less

Validated and longitudinally stable asthma phenotypes based on cluster analysis of the ADEPT study.

PubMed

Loza, Matthew J; Djukanovic, Ratko; Chung, Kian Fan; Horowitz, Daniel; Ma, Keying; Branigan, Patrick; Barnathan, Elliot S; Susulic, Vedrana S; Silkoff, Philip E; Sterk, Peter J; Baribaud, Frédéric

2016-12-15

Asthma is a disease of varying severity and differing disease mechanisms. To date, studies aimed at stratifying asthma into clinically useful phenotypes have produced a number of phenotypes that have yet to be assessed for stability and to be validated in independent cohorts. The aim of this study was to define and validate, for the first time ever, clinically driven asthma phenotypes using two independent, severe asthma cohorts: ADEPT and U-BIOPRED. Fuzzy partition-around-medoid clustering was performed on pre-specified data from the ADEPT participants (n = 156) and independently on data from a subset of U-BIOPRED asthma participants (n = 82) for whom the same variables were available. Models for cluster classification probabilities were derived and applied to the 12-month longitudinal ADEPT data and to a larger subset of the U-BIOPRED asthma dataset (n = 397). High and low type-2 inflammation phenotypes were defined as high or low Th2 activity, indicated by endobronchial biopsies gene expression changes downstream of IL-4 or IL-13. Four phenotypes were identified in the ADEPT (training) cohort, with distinct clinical and biomarker profiles. Phenotype 1 was "mild, good lung function, early onset", with a low-inflammatory, predominantly Type-2, phenotype. Phenotype 2 had a "moderate, hyper-responsive, eosinophilic" phenotype, with moderate asthma control, mild airflow obstruction and predominant Type-2 inflammation. Phenotype 3 had a "mixed severity, predominantly fixed obstructive, non-eosinophilic and neutrophilic" phenotype, with moderate asthma control and low Type-2 inflammation. Phenotype 4 had a "severe uncontrolled, severe reversible obstruction, mixed granulocytic" phenotype, with moderate Type-2 inflammation. These phenotypes had good longitudinal stability in the ADEPT cohort. They were reproduced and demonstrated high classification probability in two subsets of the U-BIOPRED asthma cohort. Focusing on the biology of the four clinical independently-validated easy-to-assess ADEPT asthma phenotypes will help understanding the unmet need and will aid in developing tailored therapies. NCT01274507 (ADEPT), registered October 28, 2010 and NCT01982162 (U-BIOPRED), registered October 30, 2013.

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alternations in CNS Development

DTIC Science & Technology

2009-10-01

2004. MECP2 structural and 3’-UTR variants in schizophrenia , autism and other psychiatric diseases: a possible association with autism. Am J Med...inhibition, thus potentially enabling enhancement of remyelination. Role: PI Award letter dated 12/11/06 Noble (PI) Cure Autism Now Foundation 02/05

Association between Severity of Behavioral Phenotype and Comorbid Attention Deficit Hyperactivity Disorder Symptoms in Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Rao, Patricia A.; Landa, Rebecca J.

2014-01-01

Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines ("Diagnostic and Statistical Manual of the American Psychiatric Association," 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity…

Pre- and Peri-Natal Environmental Risks for Attention-Deficit Hyperactivity Disorder (ADHD): The Potential Role of Epigenetic Processes in Mediating Susceptibility

ERIC Educational Resources Information Center

Mill, Jonathan; Petronis, Arturas

2008-01-01

Attention-deficit hyperactivity disorder (ADHD) is a common childhood neurobehavioural disorder defined by symptoms of developmentally inappropriate inattention, impulsivity and hyperactivity. As is the norm for most psychiatric phenotypes, traditional aetiological studies have focused primarily on the interplay between genetic and environmental…

Research Review: Crossing Syndrome Boundaries in the Search for Brain Endophenotypes

ERIC Educational Resources Information Center

Levy, Yonata; Ebstein, Richard P.

2009-01-01

The inherent imprecision of behavioral phenotyping is the single most important factor contributing to the failure to discover the biological factors that are involved in psychiatric and neurodevelopmental disorders (e.g., Bearden & Freimer, 2006). In this review article we argue that in addition to an appreciation of the inherent complexity at…

Animal models of speech and vocal communication deficits associated with psychiatric disorders

PubMed Central

Konopka, Genevieve; Roberts, Todd F.

2015-01-01

Disruptions in speech, language and vocal communication are hallmarks of several neuropsychiatric disorders, most notably autism spectrum disorders. Historically, the use of animal models to dissect molecular pathways and connect them to behavioral endophenotypes in cognitive disorders has proven to be an effective approach for developing and testing disease-relevant therapeutics. The unique aspects of human language when compared to vocal behaviors in other animals make such an approach potentially more challenging. However, the study of vocal learning in species with analogous brain circuits to humans may provide entry points for understanding this human-specific phenotype and diseases. Here, we review animal models of vocal learning and vocal communication, and specifically link phenotypes of psychiatric disorders to relevant model systems. Evolutionary constraints in the organization of neural circuits and synaptic plasticity result in similarities in the brain mechanisms for vocal learning and vocal communication. Comparative approaches and careful consideration of the behavioral limitations among different animal models can provide critical avenues for dissecting the molecular pathways underlying cognitive disorders that disrupt speech, language and vocal communication. PMID:26232298

The Biographical Personality Interview (BPI)--a new approach to the assessment of premorbid personality in psychiatric research. Part II: Psychometric properties.

PubMed

von Zerssen, D; Barthelmes, H; Pössl, J; Black, C; Garzynski, E; Wessel, E; Hecht, H

1998-01-01

The Biographical Personality Interview (BPI) was applied to 179 subjects (158 psychiatric patients and 21 probands from the general population); 100 patients and 20 healthy controls served as a validation sample; the others had been interviewed during the training period or did not meet the inclusion criteria for the validation of the BPI. The acceptance of the interview was high, the inter-rater reliability of the ratings of premorbid personality structures ("types") varied between 0.81 and 0.88 per type. Concurrent validity of the typological constructs as assessed by means of the BPI was inferred from the intercorrelations of type scores and correlations of these scores with questionnaire data and proved to be adequate. Clinical validity of the assessment was indicated by statistically significant differences between diagnostic groups. Problems and further developments of the instrument and its application are discussed.

The Psychiatric Assessment Schedule for Adult with Developmental Disability (PAS-ADD) Checklist: Reliability and Validity of French Version

ERIC Educational Resources Information Center

Gerber, F.; Carminati, G. Galli

2013-01-01

Background: The lack of psychometric measures of psychopathology especially in intellectual disabilities (ID) population was addressed by creation of the Psychiatric Assessment Schedule for Adult with Developmental Disability (PAS-ADD-10) in Moss et?al. This schedule is a structured interview designed for professionals in psychopathology. The…

A Psychometric Investigation of the Suicide Status Form II with a Psychiatric Inpatient Sample

ERIC Educational Resources Information Center

Conrad, Amy K.; Jacoby, Aaron M.; Jobes, David A.; Lineberry, Timothy W.; Shea, Catherine E.; Arnold Ewing, Theresa D.; Schmid, Phyllis J.; Ellenbecker, Susan M.; Lee, Joy L.; Fritsche, Kathryn; Grenell, Jennifer A.; Gehin, Jessica M.; Kung, Simon

2009-01-01

We investigated the psychometric validity and reliability of the Suicide Status Form-II (SSF-II) developed by Jobes, Jacoby, Cimbolic, and Hustead (1997). Participants were 149 psychiatric inpatients (108 suicidal; 41 nonsuicidal) at the Mayo Clinic. Each participant completed assessment measures within 24 hours of admission and 48-72 hours later.…

Teaching Neurophysiology, Neuropharmacology, and Experimental Design Using Animal Models of Psychiatric and Neurological Disorders

ERIC Educational Resources Information Center

Morsink, Maarten C.; Dukers, Danny F.

2009-01-01

Animal models have been widely used for studying the physiology and pharmacology of psychiatric and neurological diseases. The concepts of face, construct, and predictive validity are used as indicators to estimate the extent to which the animal model mimics the disease. Currently, we used these three concepts to design a theoretical assignment to…

Anger Assessment in Clinical and Nonclinical Populations: Further Validation of the State-Trait Anger Expression Inventory-2.

PubMed

Lievaart, Marien; Franken, Ingmar H A; Hovens, Johannes E

2016-03-01

The most commonly used instrument for measuring anger is the State-Trait Anger Expression Inventory-2 (STAXI-2; Spielberger, 1999). This study further examines the validity of the STAXI-2 and compares anger scores between several clinical and nonclinical samples. Reliability, concurrent, and construct validity were investigated in Dutch undergraduate students (N = 764), a general population sample (N = 1211), and psychiatric outpatients (N = 226). The results support the reliability and validity of the STAXI-2. Concurrent validity was strong, with meaningful correlations between the STAXI-2 scales and anger-related constructs in both clinical and nonclinical samples. Importantly, patients showed higher experience and expression of anger than the general population sample. Additionally, forensic outpatients with addiction problems reported higher Anger Expression-Out than general psychiatric outpatients. Our conclusion is that the STAXI-2 is a suitable instrument to measure both the experience and the expression of anger in both general and clinical populations. © 2016 Wiley Periodicals, Inc.

The validity of the Health-Relevant Personality Inventory (HP5i) and the Junior Temperament and Character Inventory (JTCI) among adolescents referred for a substance misuse problem.

PubMed

Hemphälä, Malin; Gustavsson, J Petter; Tengström, Anders

2013-01-01

The aim was to study the validity of 2 personality instruments, the Health-Relevant Personality Inventory (HP5i) and the Junior Temperament and Character Inventory (JTCI), among adolescents with a substance use problem. Clinical interviews were completed with 180 adolescents and followed up after 12 months. Discriminant validity was demonstrated in the lack of correlation to intelligence in both instruments' scales. Two findings were in support of convergent validity: Negative affectivity (HP5i) and harm avoidance (JTCI) were correlated to internalizing symptoms, and impulsivity (HP5i) and novelty seeking (JTCI) were correlated to externalizing symptoms. The predictive validity of JTCI was partly supported. When psychiatric symptoms at baseline were controlled for, cooperativeness predicted conduct disorder after 12 months. Summarizing, both instruments can be used in adolescent clinical samples to tailor treatment efforts, although some scales need further investigation. It is important to include personality assessment when evaluating psychiatric problems in adolescents.

'Mastication rage': a review of misophonia - an under-recognised symptom of psychiatric relevance?

PubMed

Bruxner, George

2016-04-01

To explore the condition of misophonia, its definition, possible neurological correlates, its associated morbidity, its possible psychiatric relevance and potential treatment. Provision of an illustrative case vignette and a review of the limited literature. Misophonia is a symptom associated with obsessive-compulsive disorder and anxiety disorders and may be a syndrome in itself associated with significant distress and avoidance. Treatments are not well validated. Misophonia may be an under-recognised condition of psychiatric relevance. © The Royal Australian and New Zealand College of Psychiatrists 2015.

Development and validity data of the Brazilian Internet Study on Temperament and Psychopathology (BRAINSTEP).

PubMed

Lara, Diogo R; Ottoni, Gustavo L; Brunstein, Miriam G; Frozi, Julia; de Carvalho, Hudson W; Bisol, Luísa W

2012-12-10

The internet provides a research opportunity for psychiatry and psychology. This article presents the development and preliminary data of a large web-survey created to study how temperament relates to other psychological measures, behavior and psychiatric disorders. We used the Affective and Emotional Composite Temperament Scale (AFECTS) to evaluate temperament and we selected several self-report instruments to evaluate behavior, psychological constructs and mental disorders. The system provides anonymous psychological (phase 1) and psychiatric (phase 2) feedback and includes questions to assess the validity of the answers. Each phase has around 450 questions. This system was broadcast utilizing Brazilian media. After the exclusion of 21.5% of the volunteers (those who failed the validation questions), 41,427 participants concluded the first part of the system (mean age=31.2±10.5 yrs, 26.9% males), and 21,836 (mean age=32.5±10.9 yrs, 25.1% males) completed phase 2. Around 25% have received a psychiatric diagnosis from a mental health professional. Demographic and temperament profiles of those who completed either only 80 questions, only phase 1, or the whole system were similar. The rate of non-serious answers (e.g. on bizarre behaviors) was very low and congruency of answers was very high. The internal consistency of classical trait scales (TCI-R and PANAS) was high (Cronbach's alpha>0.80) for all dimensions. Relatively high dropout rate due to the length of the process and an overrepresentation of female, young and well-educated subjects. The BRAINSTEP provides valid and abundant data on psychological and psychiatric measures. Copyright © 2012 Elsevier B.V. All rights reserved.

Familial Aggregation and Heritability of Schizophrenia and Co-aggregation of Psychiatric Illnesses in Affected Families.

PubMed

Chou, I-Jun; Kuo, Chang-Fu; Huang, Yu-Shu; Grainge, Matthew J; Valdes, Ana M; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Huang, Lu-Shuang; Tseng, Wen-Yi; Zhang, Weiya; Doherty, Michael

2017-09-01

Strong familial aggregation of schizophrenia has been reported but there is uncertainty concerning the degree of genetic contribution to the phenotypic variance of the disease. This study aimed to examine the familial aggregation and heritability of schizophrenia, and the relative risks (RRs) of other psychiatric diseases, in relatives of people with schizophrenia using the Taiwan National Health Insurance Database. The study population included individuals with affected first-degree or second-degree relatives identified from all beneficiaries (n = 23 422 955) registered in 2013. Diagnoses of schizophrenia made by psychiatrists were ascertained between January 1, 1996 and December 31, 2013. Having an affected co-twin, first-degree relative, second-degree relative, or spouse was associated with an adjusted RR (95% CI) of 37.86 (30.55-46.92), 6.30 (6.09-6.53), 2.44 (1.91-3.12), and 1.88 (1.64-2.15), respectively. Compared with the general population, individuals with one affected first-degree relative had a RR (95% CI) of 6.00 (5.79-6.22) and those with 2 or more had a RR (95% CI) of 14.66 (13.00-16.53) for schizophrenia. The accountability for the phenotypic variance of schizophrenia was 47.3% for genetic factors, 15.5% for shared environmental factors, and 37.2% for non-shared environmental factors. The RR (95% CI) in individuals with a first-degree relative with schizophrenia was 3.49 (3.34-3.64) for mood disorders and 3.91 (3.35-4.57) for delusional disorders. A family history of schizophrenia is therefore associated with a higher risk of developing schizophrenia, mood disorders, and delusional disorders. Heritability and environmental factors each account for half of the phenotypic variance of schizophrenia. © The Author 2016. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.

Clinical phenotype of bipolar disorder with comorbid binge eating disorder

PubMed Central

McElroy, Susan L.; Crow, Scott; Biernacka, Joanna M.; Winham, Stacey; Geske, Jennifer; Cuellar Barboza, Alfredo B.; Prieto, Miguel L.; Chauhan, Mohit; Seymour, Lisa R.; Mori, Nicole; Frye, Mark A.

2017-01-01

Background To explore the relationship between binge eating disorder (BED) and obesity in patients with bipolar disorder (BP). Methods 717 patients participating in the Mayo Clinic Bipolar Biobank completed structured diagnostic interviews and questionnaires for demographic and illness-related variables. They also had weight and height measured to determine body mass index (BMI). The effects of BED and obesity (BMI≥30 kg/m2), as well as their interaction, were assessed on one measure of general medical burden and six proxies of psychiatric illness burden. Results 9.5% of patients received a clinical diagnosis of BED and 42.8% were obese. BED was associated with a significantly elevated BMI. Both BED and obesity were associated with greater psychiatric and general illness burden, but illness burden profiles differed. After controlling for obesity, BED was associated with suicidality, psychosis, mood instability, anxiety disorder comorbidity, and substance abuse comorbidity. After controlling for BED status, obesity was associated with greater general medical comorbidity, but lower substance abuse comorbidity. There were no significant interaction effects between obesity and BED, or BMI and BED, on any illness burden outcome. Limitations There may have been insufficient power to detect interactions between BED and obesity. Conclusions: Among patients with BP, BED and obesity are highly prevalent and correlated, but associated with different profiles of enhanced illness burden. As the association of BED with greater psychiatric illness burden remained significant even after accounting for the effect of obesity, BP with BED may represent a clinically important sub-phenotype. PMID:23742827

A Closer Look at Siblings of Patients with Schizophrenia: The Association of Depression History and Sex with Cognitive Phenotypes

PubMed Central

Wisner, Krista M.; Elvevåg, Brita; Gold, James M.; Weinberger, Daniel R.; Dickinson, Dwight

2010-01-01

Background Siblings of patients with schizophrenia show impaired cognition and an increased prevalence of depression history. Although sex has been shown to moderate cognition in patients, this effect has not been examined in siblings. Here we elucidate how a history of depression and sex influences cognition in siblings unaffected by schizophrenia. Methods Unaffected siblings of patients with schizophrenia and unrelated healthy controls were evaluated neuropsychologically and completed structured clinical interviews. Participants with a depression history or no psychiatric history were selected for the sample. Cognitive performance of siblings (n = 366) and controls (n = 680) was first examined. Second, cognition of participants with a depression history and those without a psychiatric history was compared while additionally investigating the role of schizophrenia risk and sex. Results Relative to controls, siblings, with and without a psychiatric history, demonstrated significant (p < .05) cognitive deficits. Depression history impaired cognition in siblings, but not in controls; whereas sex affected cognition in both siblings and controls. In siblings alone, sex significantly interacted with depression history to influence cognition. This interaction revealed that in male - but not female - siblings a history of depression was associated with greater cognitive impairments. Conclusion A history of depression impairs cognition in siblings, but not in controls. Moreover, depression history interacts with sex and demonstrates that only cognition in male siblings is significantly and additionally compromised by a history of depression. This interaction may be an important consideration for future phenotype and genetic association studies. PMID:21030214

Training and Validation of Standardized Patients for Unannounced Assessment of Physicians' Management of Depression

ERIC Educational Resources Information Center

Shirazi, Mandana; Sadeghi, Majid; Emami, A.; Kashani, A. Sabouri; Parikh, Sagar; Alaeddini, F.; Arbabi, Mohammad; Wahlstrom, Rolf

2011-01-01

Objective: Standardized patients (SPs) have been developed to measure practitioner performance in actual practice settings, but results have not been fully validated for psychiatric disorders. This study describes the process of creating reliable and valid SPs for unannounced assessment of general-practitioners' management of depression disorders…

Psychometric Properties and Correlates of the Beck Hopelessness Scale in Family Caregivers of Nigerian Patients with Psychiatric Disorders in Southwestern Nigeria

PubMed Central

Aloba, Olutayo; Ajao, Olayinka; Alimi, Taiwo; Esan, Olufemi

2016-01-01

Objectives: To examine the construct and correlates of hopelessness among family caregivers of Nigerian psychiatric patients. Materials and Methods: This is a cross-sectional, descriptive study involving 264 family caregiver-patients’ dyads recruited from two university teaching hospitals psychiatric clinics in Southwestern Nigeria. Results: Exploratory factor analysis revealed a two-factor 9-item model of the Beck Hopelessness Scale (BHS) among the family caregivers. Confirmatory factor analysis of the model revealed satisfactory indices of fitness (goodness of fit index = 0.97, comparative fit index = 0.96, Chi-square/degree of freedom (CMIN/DF) = 1.60, root mean square error of approximation = 0.048, expected cross-validation index = 0.307, and standardized root mean residual = 0.005). Reliability of the scale was modestly satisfactory (Cronbach's alpha 0.72). Construct validity of scale was supported by significant correlations with the family caregivers’ scores on the Zarit Burden Interview, mini international neuropsychiatric interview suicidality module, General Health Questionnaire-12 (GHQ-12), and Patient Health Questionnaire-9. The greatest variance in the family caregivers’ scores on the BHS was contributed by their scores on the psychological distress scale (GHQ-12). Conclusions: The BHS has adequate psychometric properties among Nigerian psychiatric patients’ family caregivers. There is the need to pay attention to the psychological well-being of the family caregivers of Nigerian psychiatric patients. PMID:28163498

Psychiatric symptoms and response quality to self-rated personality tests: Evidence from the PsyCoLaus study.

PubMed

Dupuis, Marc; Meier, Emanuele; Rudaz, Dominique; Strippoli, Marie-Pierre F; Castelao, Enrique; Preisig, Martin; Capel, Roland; Vandeleur, Caroline L

2017-06-01

Despite the fact that research has demonstrated consistent associations between self-rated measures of personality dimensions and mental disorders, little has been undertaken to investigate the relation between psychiatric symptoms and response patterns to self-rated tests. The aim of this study was to investigate the association between psychiatric symptoms and response quality using indices from our functional method. A sample of 1,784 participants from a Swiss population-based cohort completed a personality inventory (NEO-FFI) and a symptom checklist of 90 items (SCL-90-R). Different indices of response quality were calculated based on the responses given to the NEO-FFI. Associations among the responses to indices of response quality, sociodemographic characteristics and the SCL-90-R dimensions were then established. Psychiatric symptoms were associated with several important differences in response quality, questioning subjects' ability to provide valid information using self-rated instruments. As suggested by authors, psychiatric symptoms seem associated with differences in personality scores. Nonetheless, our study shows that symptoms are also related to differences in terms of response patterns as sources of differences in personality scores. This could constitute a bias for clinical assessment. Future studies could still determine whether certain subpopulations of subjects are more unable to provide valid information to self-rated questionnaires than others. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

PubMed

Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

2017-06-01

Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

Validity and reliability of a Swedish questionnaire for assessing satisfaction with housing and housing support for persons with psychiatric disabilities.

PubMed

Brolin, Rosita; Rask, Mikael; Syrén, Susanne; Brunt, David Arthur

2013-10-01

The aim of this study was to investigate the reliability and validity of a questionnaire for studying satisfaction with housing and housing support for people with psychiatric disabilities. Most items were gathered from English language questionnaires. These were translated and adapted to a Swedish context and items concerning housing support were added. Two studies were conducted. The first, a test-retest reliability analysis, was performed in a pilot study with 53 participants; in the second study, which had 370 participants, a five factor solution with good internal consistency emerged. Further development of the questionnaire is discussed.

Test-retest reliability and construct validity of the Helplessness, Hopelessness, and Haplessness Scale in patients with anxiety disorders.

PubMed

Vatan, Sevginar; Ertaş, Sedar; Lester, David

2011-04-01

In a sample of 100 Turkish psychiatric patients with diagnoses of anxiety disorders, Lester's Helplessness, Hopelessness, and Haplessness inventory had moderate estimates of internal consistency, test-retest reliability, and construct validity.

Using cluster analysis to identify phenotypes and validation of mortality in men with COPD.

PubMed

Chen, Chiung-Zuei; Wang, Liang-Yi; Ou, Chih-Ying; Lee, Cheng-Hung; Lin, Chien-Chung; Hsiue, Tzuen-Ren

2014-12-01

Cluster analysis has been proposed to examine phenotypic heterogeneity in chronic obstructive pulmonary disease (COPD). The aim of this study was to use cluster analysis to define COPD phenotypes and validate them by assessing their relationship with mortality. Male subjects with COPD were recruited to identify and validate COPD phenotypes. Seven variables were assessed for their relevance to COPD, age, FEV(1) % predicted, BMI, history of severe exacerbations, mMRC, SpO(2), and Charlson index. COPD groups were identified by cluster analysis and validated prospectively against mortality during a 4-year follow-up. Analysis of 332 COPD subjects identified five clusters from cluster A to cluster E. Assessment of the predictive validity of these clusters of COPD showed that cluster E patients had higher all cause mortality (HR 18.3, p < 0.0001), and respiratory cause mortality (HR 21.5, p < 0.0001) than those in the other four groups. Cluster E patients also had higher all cause mortality (HR 14.3, p = 0.0002) and respiratory cause mortality (HR 10.1, p = 0.0013) than patients in cluster D alone. COPD patient with severe airflow limitation, many symptoms, and a history of frequent severe exacerbations was a novel and distinct clinical phenotype predicting mortality in men with COPD.

The immature dentate gyrus represents a shared phenotype of mouse models of epilepsy and psychiatric disease

PubMed Central

Shin, Rick; Kobayashi, Katsunori; Hagihara, Hideo; Kogan, Jeffrey H; Miyake, Shinichi; Tajinda, Katsunori; Walton, Noah M; Gross, Adam K; Heusner, Carrie L; Chen, Qian; Tamura, Kouichi; Miyakawa, Tsuyoshi; Matsumoto, Mitsuyuki

2013-01-01

Objectives There is accumulating evidence to suggest psychiatric disorders, such as bipolar disorder and schizophrenia, share common etiologies, pathophysiologies, genetics, and drug responses with many of the epilepsies. Here, we explored overlaps in cellular/molecular, electrophysiological, and behavioral phenotypes between putative mouse models of bipolar disorder/schizophrenia and epilepsy. We tested the hypothesis that an immature dentate gyrus (iDG), whose association with psychosis in patients has recently been reported, represents a common phenotype of both diseases. Methods Behaviors of calcium/calmodulin-dependent protein kinase II alpha (α-CaMKII) heterozygous knock-out (KO) mice, which are a representative bipolar disorder/schizophrenia model displaying iDG, and pilocarpine-treated mice, which are a representative epilepsy model, were tested followed by quantitative polymerase chain reaction (qPCR)/immunohistochemistry for mRNA/protein expression associated with an iDG phenotype. In vitro electrophysiology of dentate gyrus granule cells (DG GCs) was examined in pilocarpine-treated epileptic mice. Results The two disease models demonstrated similar behavioral deficits, such as hyperactivity, poor working memory performance, and social withdrawal. Significant reductions in mRNA expression and immunoreactivity of the mature neuronal marker calbindin and concomitant increases in mRNA expression and immunoreactivity of the immature neuronal marker calretinin represent iDG signatures that are present in both mice models. Electrophysiologically, we have confirmed that DG GCs from pilocarpine-treated mice represent an immature state. A significant decrease in hippocampal α-CaMKII protein levels was also found in both models. Conclusions Our data have shown iDG signatures from mouse models of both bipolar disorder/schizophrenia and epilepsy. The evidence suggests that the iDG may, in part, be responsible for the abnormal behavioral phenotype, and that the underlying pathophysiologies in epilepsy and bipolar disorder/schizophrenia are strikingly similar. PMID:23560889

The immature dentate gyrus represents a shared phenotype of mouse models of epilepsy and psychiatric disease.

PubMed

Shin, Rick; Kobayashi, Katsunori; Hagihara, Hideo; Kogan, Jeffrey H; Miyake, Shinichi; Tajinda, Katsunori; Walton, Noah M; Gross, Adam K; Heusner, Carrie L; Chen, Qian; Tamura, Kouichi; Miyakawa, Tsuyoshi; Matsumoto, Mitsuyuki

2013-06-01

There is accumulating evidence to suggest psychiatric disorders, such as bipolar disorder and schizophrenia, share common etiologies, pathophysiologies, genetics, and drug responses with many of the epilepsies. Here, we explored overlaps in cellular/molecular, electrophysiological, and behavioral phenotypes between putative mouse models of bipolar disorder/schizophrenia and epilepsy. We tested the hypothesis that an immature dentate gyrus (iDG), whose association with psychosis in patients has recently been reported, represents a common phenotype of both diseases. Behaviors of calcium/calmodulin-dependent protein kinase II alpha (α-CaMKII) heterozygous knock-out (KO) mice, which are a representative bipolar disorder/schizophrenia model displaying iDG, and pilocarpine-treated mice, which are a representative epilepsy model, were tested followed by quantitative polymerase chain reaction (qPCR)/immunohistochemistry for mRNA/protein expression associated with an iDG phenotype. In vitro electrophysiology of dentate gyrus granule cells (DG GCs) was examined in pilocarpine-treated epileptic mice. The two disease models demonstrated similar behavioral deficits, such as hyperactivity, poor working memory performance, and social withdrawal. Significant reductions in mRNA expression and immunoreactivity of the mature neuronal marker calbindin and concomitant increases in mRNA expression and immunoreactivity of the immature neuronal marker calretinin represent iDG signatures that are present in both mice models. Electrophysiologically, we have confirmed that DG GCs from pilocarpine-treated mice represent an immature state. A significant decrease in hippocampal α-CaMKII protein levels was also found in both models. Our data have shown iDG signatures from mouse models of both bipolar disorder/schizophrenia and epilepsy. The evidence suggests that the iDG may, in part, be responsible for the abnormal behavioral phenotype, and that the underlying pathophysiologies in epilepsy and bipolar disorder/schizophrenia are strikingly similar. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

PubMed

Ekşioğlu, Yaman Z; Pong, Amanda W; Takeoka, Masanori

2011-05-01

ARX, the aristaless-related homeobox gene, is implicated in cerebral, testicular, and pancreatic development. ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans. A mouse model that recapitulates X-linked lissencephaly with ambiguous genitalia (XLAG) is far from elucidating the substrate for phenotypes that different ARX mutations cause. Moreover, despite phenotypic pleomorphism associated with X-linked dominant ARX mutations, heterozygous female carriers have not been thoroughly studied. Reviewing records of patients with ARX mutations, infantile epilepsies, and psychomotor retardation, we analyzed a family harboring a novel ARX mutation with different phenotypes in males and females, including Ohtahara syndrome. Children's Hospital Boston patient records were retrospectively screened for patients with infantile epileptic encephalopathies who underwent ARX sequencing based on clinical suspicion. Identified families were analyzed for genetic and neuropsychiatric phenomena. The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain. Heterozygous females demonstrated neurocognitive/psychiatric phenomena including learning difficulties, anxiety, depression, and schizophrenia. This is the first reported case of Ohtahara syndrome with abnormal genital and psychomotor development in the setting of this novel ARX mutation in exon 5. Based on the unique phenotype of the proband and on the presence of heterozygous females with neurocognitive/psychiatric ailments, this study describes the potential roles for ARX mutations in epilepsy and neuropsychiatric disease, underscoring the importance of ARX in interneuron development, cerebral electrical activity, cognition, and behavior. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Interaction of childhood urbanicity and variation in dopamine genes alters adult prefrontal function as measured by functional magnetic resonance imaging (fMRI).

PubMed

Reed, Jessica L; D'Ambrosio, Enrico; Marenco, Stefano; Ursini, Gianluca; Zheutlin, Amanda B; Blasi, Giuseppe; Spencer, Barbara E; Romano, Raffaella; Hochheiser, Jesse; Reifman, Ann; Sturm, Justin; Berman, Karen F; Bertolino, Alessandro; Weinberger, Daniel R; Callicott, Joseph H

2018-01-01

Brain phenotypes showing environmental influence may help clarify unexplained associations between urban exposure and psychiatric risk. Heritable prefrontal fMRI activation during working memory (WM) is such a phenotype. We hypothesized that urban upbringing (childhood urbanicity) would alter this phenotype and interact with dopamine genes that regulate prefrontal function during WM. Further, dopamine has been hypothesized to mediate urban-associated factors like social stress. WM-related prefrontal function was tested for main effects of urbanicity, main effects of three dopamine genes-catechol-O-methyltransferase (COMT), dopamine receptor D1 (DRD1), and dopamine receptor D2 (DRD2)-and, importantly, dopamine gene-by-urbanicity interactions. For COMT, three independent human samples were recruited (total n = 487). We also studied 253 subjects genotyped for DRD1 and DRD2. 3T fMRI activation during the N-back WM task was the dependent variable, while childhood urbanicity, dopamine genotype, and urbanicity-dopamine interactions were independent variables. Main effects of dopamine genes and of urbanicity were found. Individuals raised in an urban environment showed altered prefrontal activation relative to those raised in rural or town settings. For each gene, dopamine genotype-by-urbanicity interactions were shown in prefrontal cortex-COMT replicated twice in two independent samples. An urban childhood upbringing altered prefrontal function and interacted with each gene to alter genotype-phenotype relationships. Gene-environment interactions between multiple dopamine genes and urban upbringing suggest that neural effects of developmental environmental exposure could mediate, at least partially, increased risk for psychiatric illness in urban environments via dopamine genes expressed into adulthood.

Genes, Brain Development and Psychiatric Phenotypes in Velo-Cardio-Facial Syndrome

ERIC Educational Resources Information Center

Gothelf, Doron; Schaer, Marie; Eliez, Stephan

2008-01-01

Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia-like psychotic disorder. In this review, we…

Psychiatric Disorders and Intellectual Functioning throughout Development in Velocardiofacial (22q11.2 Deletion) Syndrome

ERIC Educational Resources Information Center

Green, Tamar; Gothelf, Doron; Glaser, Bronwyn; Debbane, Martin; Frisch, Amos; Kotler, Moshe; Weizman, Abraham; Eliez, Stephan

2009-01-01

Objective: Velocardiofacial syndrome (VCFS) is associated with cognitive deficits and high rates of schizophrenia and other neuropsychiatric disorders. We report the data from two large cohorts of individuals with VCFS from Israel and Western Europe to characterize the neuropsychiatric phenotype from childhood to adulthood in a large sample.…

Convergent functional genomics of anxiety disorders: translational identification of genes, biomarkers, pathways and mechanisms.

PubMed

Le-Niculescu, H; Balaraman, Y; Patel, S D; Ayalew, M; Gupta, J; Kuczenski, R; Shekhar, A; Schork, N; Geyer, M A; Niculescu, A B

2011-05-24

Anxiety disorders are prevalent and disabling yet understudied from a genetic standpoint, compared with other major psychiatric disorders such as bipolar disorder and schizophrenia. The fact that they are more common, diverse and perceived as embedded in normal life may explain this relative oversight. In addition, as for other psychiatric disorders, there are technical challenges related to the identification and validation of candidate genes and peripheral biomarkers. Human studies, particularly genetic ones, are susceptible to the issue of being underpowered, because of genetic heterogeneity, the effect of variable environmental exposure on gene expression, and difficulty of accrual of large, well phenotyped cohorts. Animal model gene expression studies, in a genetically homogeneous and experimentally tractable setting, can avoid artifacts and provide sensitivity of detection. Subsequent translational integration of the animal model datasets with human genetic and gene expression datasets can ensure cross-validatory power and specificity for illness. We have used a pharmacogenomic mouse model (involving treatments with an anxiogenic drug--yohimbine, and an anti-anxiety drug--diazepam) as a discovery engine for identification of anxiety candidate genes as well as potential blood biomarkers. Gene expression changes in key brain regions for anxiety (prefrontal cortex, amygdala and hippocampus) and blood were analyzed using a convergent functional genomics (CFG) approach, which integrates our new data with published human and animal model data, as a translational strategy of cross-matching and prioritizing findings. Our work identifies top candidate genes (such as FOS, GABBR1, NR4A2, DRD1, ADORA2A, QKI, RGS2, PTGDS, HSPA1B, DYNLL2, CCKBR and DBP), brain-blood biomarkers (such as FOS, QKI and HSPA1B), pathways (such as cAMP signaling) and mechanisms for anxiety disorders--notably signal transduction and reactivity to environment, with a prominent role for the hippocampus. Overall, this work complements our previous similar work (on bipolar mood disorders and schizophrenia) conducted over the last decade. It concludes our programmatic first pass mapping of the genomic landscape of the triad of major psychiatric disorder domains using CFG, and permitted us to uncover the significant genetic overlap between anxiety and these other major psychiatric disorders, notably the under-appreciated overlap with schizophrenia. PDE10A, TAC1 and other genes uncovered by our work provide a molecular basis for the frequently observed clinical co-morbidity and interdependence between anxiety and other major psychiatric disorders, and suggest schizo-anxiety as a possible new nosological domain.

The gut microbiota and the emergence of autoimmunity: relevance to major psychiatric disorders

PubMed Central

Severance, EG; Tveiten, D; Lindström, LH; Yolken, RH; Reichelt, KL

2017-01-01

Background Autoimmune phenotypes are prevalent in major psychiatric disorders. Disequilibria of cellular processes occurring in the gastrointestinal (GI) tract likely contribute to immune dysfunction in psychiatric disorders. As the venue of a complex community of resident microbes, the gut in a homeostatic state equates with a functional digestive system, cellular barrier stability and properly regulated recognition of self and non-self antigens. When gut processes become disrupted as a result of environmental or genetic factors, autoimmunity may ensue. Methods Here, we review the issues pertinent to autoimmunity and the microbiome in psychiatric disorders and show that many of the reported immune risk factors for the development of these brain disorders are in fact related and consistent with dysfunctions occurring in the gut. We review the few human microbiome studies that have been done in people with psychiatric disorders and supplement this information with mechanistic data gleaned from experimental rodent studies. Results These investigations demonstrate changes in behavior and brain biochemistry directly attributable to alterations in the gut microbiome. We present a model by which autoantigens are produced by extrinsically-derived food and microbial factors bound to intrinsic components of the gut including receptors present in the enteric nervous system. Conclusion This new focus on examining activities outside of the CNS for relevance to the etiology and pathophysiology of psychiatric disorders may require new modalities or a re-evaluation of pharmaceutical targets found in peripheral systems. PMID:27634185

Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

PubMed Central

Hamshere, M. L.; Green, E. K.; Jones, I. R.; Jones, L.; Moskvina, V.; Kirov, G.; Grozeva, D.; Nikolov, I.; Vukcevic, D.; Caesar, S.; Gordon-Smith, K.; Fraser, C.; Russell, E.; Breen, G.; St Clair, D.; Collier, D. A.; Young, A. H.; Ferrier, I. N.; Farmer, A.; McGuffin, P.; Holmans, P. A.; Owen, M. J.; O’Donovan, M. C.; Craddock, N.

2009-01-01

Background Psychiatric phenotypes are currently defined according to sets of descriptive criteria. Although many of these phenotypes are heritable, it would be useful to know whether any of the various diagnostic categories in current use identify cases that are particularly helpful for biological–genetic research. Aims To use genome-wide genetic association data to explore the relative genetic utility of seven different descriptive operational diagnostic categories relevant to bipolar illness within a large UK case–control bipolar disorder sample. Method We analysed our previously published Wellcome Trust Case Control Consortium (WTCCC) bipolar disorder genome-wide association data-set, comprising 1868 individuals with bipolar disorder and 2938 controls genotyped for 276 122 single nucleotide polymorphisms (SNPs) that met stringent criteria for genotype quality. For each SNP we performed a test of association (bipolar disorder group v. control group) and used the number of associated independent SNPs statistically significant at P<0.00001 as a metric for the overall genetic signal in the sample. We next compared this metric with that obtained using each of seven diagnostic subsets of the group with bipolar disorder: Research Diagnostic Criteria (RDC): bipolar I disorder; manic disorder; bipolar II disorder; schizoaffective disorder, bipolar type; DSM–IV: bipolar I disorder; bipolar II disorder; schizoaffective disorder, bipolar type. Results The RDC schizoaffective disorder, bipolar type (v. controls) stood out from the other diagnostic subsets as having a significant excess of independent association signals (P<0.003) compared with that expected in samples of the same size selected randomly from the total bipolar disorder group data-set. The strongest association in this subset of participants with bipolar disorder was at rs4818065 (P = 2.42×10–7). Biological systems implicated included gamma amniobutyric acid (GABA)A receptors. Genes having at least one associated polymorphism at P<10–4 included B3GALTS, A2BP1, GABRB1, AUTS2, BSN, PTPRG, GIRK2 and CDH12. Conclusions Our findings show that individuals with broadly defined bipolar schizoaffective features have either a particularly strong genetic contribution or that, as a group, are genetically more homogeneous than the other phenotypes tested. The results point to the importance of using diagnostic approaches that recognise this group of individuals. Our approach can be applied to similar data-sets for other psychiatric and non-psychiatric phenotypes. PMID:19567891

Criteria of validity for animal models of psychiatric disorders: focus on anxiety disorders and depression

PubMed Central

2011-01-01

Animal models of psychiatric disorders are usually discussed with regard to three criteria first elaborated by Willner; face, predictive and construct validity. Here, we draw the history of these concepts and then try to redraw and refine these criteria, using the framework of the diathesis model of depression that has been proposed by several authors. We thus propose a set of five major criteria (with sub-categories for some of them); homological validity (including species validity and strain validity), pathogenic validity (including ontopathogenic validity and triggering validity), mechanistic validity, face validity (including ethological and biomarker validity) and predictive validity (including induction and remission validity). Homological validity requires that an adequate species and strain be chosen: considering species validity, primates will be considered to have a higher score than drosophila, and considering strains, a high stress reactivity in a strain scores higher than a low stress reactivity in another strain. Pathological validity corresponds to the fact that, in order to shape pathological characteristics, the organism has been manipulated both during the developmental period (for example, maternal separation: ontopathogenic validity) and during adulthood (for example, stress: triggering validity). Mechanistic validity corresponds to the fact that the cognitive (for example, cognitive bias) or biological mechanisms (such as dysfunction of the hormonal stress axis regulation) underlying the disorder are identical in both humans and animals. Face validity corresponds to the observable behavioral (ethological validity) or biological (biomarker validity) outcomes: for example anhedonic behavior (ethological validity) or elevated corticosterone (biomarker validity). Finally, predictive validity corresponds to the identity of the relationship between the triggering factor and the outcome (induction validity) and between the effects of the treatments on the two organisms (remission validity). The relevance of this framework is then discussed regarding various animal models of depression. PMID:22738250

An Evaluation of the Incremental Validity of the MMPI-2 Superlative (S) Scale in an Inpatient Psychiatric Sample

ERIC Educational Resources Information Center

Archer, Robert P.; Handel, Richard W.; Couvadelli, Barbara

2004-01-01

The MMPI-2 Superlative (S) scale was developed by Butcher and Han (1995) to assess individuals tendencies to present themselves in an unrealistically positive light. The current study examined the performance of the L, K, and S scales in accurately distinguishing the MMPI-2 profiles of 379 psychiatric inpatients who produced one or more elevations…

Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders.

PubMed

Schneider, Patrick; Petzold, Sandra; Sommer, Angela; Nitsch, Robert; Schwegler, Herbert; Vogt, Johannes; Roskoden, Thomas

2018-01-15

Plasticity related gene 1 (PRG-1) is a neuron specific membrane protein located at the postsynaptic density of glutamatergic synapses. PRG-1 modulates signaling pathways of phosphorylated lipid substrates such as lysophosphatidic acid (LPA). Deletion of PRG-1 increases presynaptic glutamate release probability leading to neuronal over-excitation. However, due to its cortical expression, PRG-1 deficiency leading to increased glutamatergic transmission is supposed to also affect motor pathways. We therefore analyzed the effects of PRG-1 function on exploratory and motor behavior using homozygous PRG-1 knockout (PRG-1 -/- ) mice and PRG-1/LPA 2 -receptor double knockout (PRG-1 -/- /LPA 2 -/- ) mice in two open field settings of different size and assessing motor behavior in the Rota Rod test. PRG-1 -/- mice displayed significantly longer path lengths and higher running speed in both open field conditions. In addition, PRG-1 -/- mice spent significantly longer time in the larger open field and displayed rearing and self-grooming behavior. Furthermore PRG-1 -/- mice displayed stereotypical behavior resembling phenotypes of psychiatric disorders in the smaller sized open field arena. Altogether, this behavior is similar to the stereotypical behavior observed in animal models for psychiatric disease of autistic spectrum disorders which reflects a disrupted balance between glutamatergic and GABAergic synapses. These differences indicate an altered excitation/inhibition balance in neuronal circuits in PRG-1 -/- mice as recently shown in the somatosensory cortex [38]. In contrast, PRG-1 -/- /LPA 2 -/- did not show significant changes in behavior in the open field suggesting that these specific alterations were abolished when the LPA 2 -receptor was lacking. Our findings indicate that PRG-1 deficiency led to over-excitability caused by an altered LPA/LPA 2 -R signaling inducing a behavioral phenotype typically observed in animal models for psychiatric disorders. Copyright © 2017 Elsevier B.V. All rights reserved.

The insomnia with short sleep duration phenotype: an update on it's importance for health and prevention.

PubMed

Fernandez-Mendoza, Julio

2017-01-01

It was first proposed in the late 1990s that objective markers of sleep disturbance could serve as an index of the biological severity of insomnia. In 2013, a heuristic model of two insomnia phenotypes based on objective sleep duration was proposed. Herein, we review the studies conducted in the past 3 years on the insomnia with short sleep duration phenotype and its implications for a clinical research agenda. Studies have shown that insomnia with objective short sleep duration is associated with physiologic hyperarousal and cardiometabolic and neurocognitive morbidity, whereas insomnia with normal sleep duration is not. Both insomnia phenotypes are associated with psychiatric morbidity albeit through different psychobiological mechanisms. Novel recent studies have included occupational outcomes, developmental approaches, at-home objective sleep testing, diagnostic accuracy measures, and response to cognitive-behavioral treatment. Accumulating evidence in the past years has continued to support that insomnia with short sleep duration is a more severe phenotype of the disorder associated with physiologic changes, significant morbidity and mortality and, potentially, a differential response to treatment.

Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

PubMed

Camprubí, Cristina; Coll, Maria Dolors; Villatoro, Sergi; Gabau, Elisabeth; Kamli, Amine; Martínez, Maria Jesus; Poyatos, David; Guitart, Miriam

2007-01-01

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chromosome 15, or imprinting defect (ID). Mutation of the UBE3A gene causes approximately 10% of AS cases. In this present study, we describe the molecular analysis and phenotypes of two PWS patients and four AS patients with ID. One of the PWS patients has a non-familial imprinting center (IC) deletion and displayed a severe phenotype with an atypical PWS appearance, hyperactivity and psychiatric vulnerability. The other PWS and AS patients did not present genetic abnormalities in the IC, suggesting an epimutation as the genetic cause. The methylation pattern of two AS patients showed a faint maternal band corresponding to a mosaic ID. One of these mosaic patients displayed a mild AS phenotype while the other displayed a PWS-like phenotype.

“Gestaltomics”: Systems Biology Schemes for the Study of Neuropsychiatric Diseases

PubMed Central

Gutierrez Najera, Nora A.; Resendis-Antonio, Osbaldo; Nicolini, Humberto

2017-01-01

The integration of different sources of biological information about what defines a behavioral phenotype is difficult to unify in an entity that reflects the arithmetic sum of its individual parts. In this sense, the challenge of Systems Biology for understanding the “psychiatric phenotype” is to provide an improved vision of the shape of the phenotype as it is visualized by “Gestalt” psychology, whose fundamental axiom is that the observed phenotype (behavior or mental disorder) will be the result of the integrative composition of every part. Therefore, we propose the term “Gestaltomics” as a term from Systems Biology to integrate data coming from different sources of information (such as the genome, transcriptome, proteome, epigenome, metabolome, phenome, and microbiome). In addition to this biological complexity, the mind is integrated through multiple brain functions that receive and process complex information through channels and perception networks (i.e., sight, ear, smell, memory, and attention) that in turn are programmed by genes and influenced by environmental processes (epigenetic). Today, the approach of medical research in human diseases is to isolate one disease for study; however, the presence of an additional disease (co-morbidity) or more than one disease (multimorbidity) adds complexity to the study of these conditions. This review will present the challenge of integrating psychiatric disorders at different levels of information (Gestaltomics). The implications of increasing the level of complexity, for example, studying the co-morbidity with another disease such as cancer, will also be discussed. PMID:28536537

The Neurodevelopmental Basis of Early Childhood Disruptive Behavior: Irritable and Callous Phenotypes as Exemplars.

PubMed

Wakschlag, Lauren S; Perlman, Susan B; Blair, R James; Leibenluft, Ellen; Briggs-Gowan, Margaret J; Pine, Daniel S

2018-02-01

The arrival of the Journal's 175th anniversary occurs at a time of recent advances in research, providing an ideal opportunity to present a neurodevelopmental roadmap for understanding, preventing, and treating psychiatric disorders. Such a roadmap is particularly relevant for early-childhood-onset neurodevelopmental conditions, which emerge when experience-dependent neuroplasticity is at its peak. Employing a novel developmental specification approach, this review places recent neurodevelopmental research on early childhood disruptive behavior within the historical context of the Journal. The authors highlight irritability and callous behavior as two core exemplars of early disruptive behavior. Both phenotypes can be reliably differentiated from normative variation as early as the first years of life. Both link to discrete pathophysiology: irritability with disruptions in prefrontal regulation of emotion, and callous behavior with abnormal fear processing. Each phenotype also possesses clinical and predictive utility. Based on a nomologic net of evidence, the authors conclude that early disruptive behavior is neurodevelopmental in nature and should be reclassified as an early-childhood-onset neurodevelopmental condition in DSM-5. Rapid translation from neurodevelopmental discovery to clinical application has transformative potential for psychiatric approaches of the millennium. [AJP at 175: Remembering Our Past As We Envision Our Future November 1938: Electroencephalographic Analyses of Behavior Problem Children Herbert Jasper and colleagues found that brain abnormalities revealed by EEG are a potential causal factor in childhood behavioral disorders. (Am J Psychiatry 1938; 95:641-658 )].

The NKI-Rockland Sample: A Model for Accelerating the Pace of Discovery Science in Psychiatry

PubMed Central

Nooner, Kate Brody; Colcombe, Stanley J.; Tobe, Russell H.; Mennes, Maarten; Benedict, Melissa M.; Moreno, Alexis L.; Panek, Laura J.; Brown, Shaquanna; Zavitz, Stephen T.; Li, Qingyang; Sikka, Sharad; Gutman, David; Bangaru, Saroja; Schlachter, Rochelle Tziona; Kamiel, Stephanie M.; Anwar, Ayesha R.; Hinz, Caitlin M.; Kaplan, Michelle S.; Rachlin, Anna B.; Adelsberg, Samantha; Cheung, Brian; Khanuja, Ranjit; Yan, Chaogan; Craddock, Cameron C.; Calhoun, Vincent; Courtney, William; King, Margaret; Wood, Dylan; Cox, Christine L.; Kelly, A. M. Clare; Di Martino, Adriana; Petkova, Eva; Reiss, Philip T.; Duan, Nancy; Thomsen, Dawn; Biswal, Bharat; Coffey, Barbara; Hoptman, Matthew J.; Javitt, Daniel C.; Pomara, Nunzio; Sidtis, John J.; Koplewicz, Harold S.; Castellanos, Francisco Xavier; Leventhal, Bennett L.; Milham, Michael P.

2012-01-01

The National Institute of Mental Health strategic plan for advancing psychiatric neuroscience calls for an acceleration of discovery and the delineation of developmental trajectories for risk and resilience across the lifespan. To attain these objectives, sufficiently powered datasets with broad and deep phenotypic characterization, state-of-the-art neuroimaging, and genetic samples must be generated and made openly available to the scientific community. The enhanced Nathan Kline Institute-Rockland Sample (NKI-RS) is a response to this need. NKI-RS is an ongoing, institutionally centered endeavor aimed at creating a large-scale (N > 1000), deeply phenotyped, community-ascertained, lifespan sample (ages 6–85 years old) with advanced neuroimaging and genetics. These data will be publically shared, openly, and prospectively (i.e., on a weekly basis). Herein, we describe the conceptual basis of the NKI-RS, including study design, sampling considerations, and steps to synchronize phenotypic and neuroimaging assessment. Additionally, we describe our process for sharing the data with the scientific community while protecting participant confidentiality, maintaining an adequate database, and certifying data integrity. The pilot phase of the NKI-RS, including challenges in recruiting, characterizing, imaging, and sharing data, is discussed while also explaining how this experience informed the final design of the enhanced NKI-RS. It is our hope that familiarity with the conceptual underpinnings of the enhanced NKI-RS will facilitate harmonization with future data collection efforts aimed at advancing psychiatric neuroscience and nosology. PMID:23087608

Genetic and Modeling Approaches Reveal Distinct Components of Impulsive Behavior

PubMed Central

Nautiyal, Katherine M; Wall, Melanie M; Wang, Shuai; Magalong, Valerie M; Ahmari, Susanne E; Balsam, Peter D; Blanco, Carlos; Hen, René

2017-01-01

Impulsivity is an endophenotype found in many psychiatric disorders including substance use disorders, pathological gambling, and attention deficit hyperactivity disorder. Two behavioral features often considered in impulsive behavior are behavioral inhibition (impulsive action) and delayed gratification (impulsive choice). However, the extent to which these behavioral constructs represent distinct facets of behavior with discrete biological bases is unclear. To test the hypothesis that impulsive action and impulsive choice represent statistically independent behavioral constructs in mice, we collected behavioral measures of impulsivity in a single cohort of mice using well-validated operant behavioral paradigms. Mice with manipulation of serotonin 1B receptor (5-HT1BR) expression were included as a model of disordered impulsivity. A factor analysis was used to characterize correlations between the measures of impulsivity and to identify covariates. Using two approaches, we dissociated impulsive action from impulsive choice. First, the absence of 5-HT1BRs caused increased impulsive action, but not impulsive choice. Second, based on an exploratory factor analysis, a two-factor model described the data well, with measures of impulsive action and choice separating into two independent factors. A multiple-indicator multiple-causes analysis showed that 5-HT1BR expression and sex were significant covariates of impulsivity. Males displayed increased impulsivity in both dimensions, whereas 5-HT1BR expression was a predictor of increased impulsive action only. These data support the conclusion that impulsive action and impulsive choice are distinct behavioral phenotypes with dissociable biological influences that can be modeled in mice. Our work may help inform better classification, diagnosis, and treatment of psychiatric disorders, which present with disordered impulsivity. PMID:27976680

Cognitive and behavioral changes in Huntington disease before diagnosis.

PubMed

Paulsen, Jane S; Miller, Amanda C; Hayes, Terry; Shaw, Emily

2017-01-01

Phenotypic manifestations of Huntington disease (HD) can be detected at least 15 years prior to the time when a motor diagnosis is given. Advances in clinical care and future research will require consistent use of HD definitions and HD premanifest (prodromal) stages being used across clinics, sites, and countries. Cognitive and behavioral (psychiatric) changes in HD are summarized and implications for ongoing advancement in our knowledge of prodromal HD are suggested. The earliest detected cognitive changes are observed in the Symbol Digit Modalities Test, Stroop Interference, Stroop Color and Word Test-interference condition, and Trail Making Test. Cognitive changes in the middle and near motor diagnostic stages of prodromal HD involve nearly every cognitive test administered and the greatest changes over time (i.e., slopes) are found in those prodromal HD participants who are nearest to motor diagnosis. Psychiatric changes demonstrate significant worsening over time and remain elevated compared with healthy controls throughout the prodromal disease course. Psychiatric and behavior changes in prodromal HD are much lower than that obtained using cognitive assessment, although the psychiatric and behavioral changes represent symptoms most debilitating to independent capacity and wellness. Copyright © 2017 Elsevier B.V. All rights reserved.

SCREENING FOR PERSONALITY DISORDERS

PubMed Central

Morse, Jennifer Q.; Pilkonis, Paul A.

2010-01-01

A brief but valid self-report measure to screen for personality disorders (PDs) would be a valuable tool in making decisions about further assessment and in planning optimal treatments. In psychiatric and nonpsychiatric samples, we compared the validity of three screening measures: the PD scales from the Inventory of Interpersonal Problems, a self-report version of the Iowa Personality Disorder Screen, and the self-directedness scale of the Temperament and Character Inventory. Despite their different theoretical origins, the screeners were highly correlated in a range from .71 to .77. As a result, the use of multiple screeners was not a significant improvement over any individual screener, and no single screener stood out as clearly superior to the others. Each performed modestly in predicting the presence of any PD diagnosis in both the psychiatric and nonpsychiatric groups. Performance was best when predicting a more severe PD diagnosis in the psychiatric sample. The results also highlight the potential value of multiple assessments when relying on self-reports. PMID:17492920

The DSM-5 Trait Measure in a Psychiatric Sample of Late Adolescents and Emerging Adults: Structure, Reliability, and Validity.

PubMed

De Caluwé, Elien; Verbeke, Lize; van Aken, Marcel; van der Heijden, Paul T; De Clercq, Barbara

2018-02-22

The inclusion of a dimensional trait model of personality pathology in DSM-5 creates new opportunities for research on developmental antecedents of personality pathology. The traits of this model can be measured with the Personality Inventory for DSM-5 (PID-5), initially developed for adults, but also demonstrating validity in adolescents. The present study adds to the growing body of literature on the psychometrics of the PID-5, by examining its structure, validity, and reliability in 187 psychiatric-referred late adolescents and emerging adults. PID-5, Big Five Inventory, and Kidscreen self-reports were provided, and 88 non-clinical matched controls completed the PID-5. Results confirm the PID-5's five-factor structure, indicate adequate psychometric properties, and underscore the construct and criterion validity, showing meaningful associations with adaptive traits and quality of life. Results are discussed in terms of the PID-5's applicability in vulnerable populations who are going through important developmental transition phases, such as the step towards early adulthood.

Convergent validity of alternative MMPI-2 personality disorder scales.

PubMed

Hicklin, J; Widiger, T A

2000-12-01

The Morey, Waugh, and Blashfield (1985) MMPI (Hathaway et al., 1989) personality disorder scales provided a significant contribution to personality disorder research and assessment. However, the subsequent revisions to the MMPI and the multiple revisions to the diagnostic criteria sets that have since occurred may have justified comparable revisions to these scales. Somwaru and Ben-Porath (1995) selected a substantially different set of items from the MMPI-2 (Butcher, Dahlstrom, Graham, Tellegen, & Kaemmer, 1989) to assess Diagnostic and Statistical Manual of Mental Disorders (4th ed.; American Psychiatric Association, 1994) personality disorder diagnostic criteria. In our study, we compared the convergent validity of these alternative MMPI-2 personality disorder scales with respect to 3 self-report measures of personality disorder symptomatology in a sample of 82 psychiatric outpatients. The results suggested that Somwaru and Ben-Porath's scales are as valid as the original Morey et al. scales and might be even more valid for the assessment of borderline, antisocial, and schizoid personality disorder symptomatology.

Identification and validation of distinct biological phenotypes in patients with acute respiratory distress syndrome by cluster analysis.

PubMed

Bos, L D; Schouten, L R; van Vught, L A; Wiewel, M A; Ong, D S Y; Cremer, O; Artigas, A; Martin-Loeches, I; Hoogendijk, A J; van der Poll, T; Horn, J; Juffermans, N; Calfee, C S; Schultz, M J

2017-10-01

We hypothesised that patients with acute respiratory distress syndrome (ARDS) can be clustered based on concentrations of plasma biomarkers and that the thereby identified biological phenotypes are associated with mortality. Consecutive patients with ARDS were included in this prospective observational cohort study. Cluster analysis of 20 biomarkers of inflammation, coagulation and endothelial activation provided the phenotypes in a training cohort, not taking any outcome data into account. Logistic regression with backward selection was used to select the most predictive biomarkers, and these predicted phenotypes were validated in a separate cohort. Multivariable logistic regression was used to quantify the independent association with mortality. Two phenotypes were identified in 454 patients, which we named 'uninflamed' (N=218) and 'reactive' (N=236). A selection of four biomarkers (interleukin-6, interferon gamma, angiopoietin 1/2 and plasminogen activator inhibitor-1) could be used to accurately predict the phenotype in the training cohort (area under the receiver operating characteristics curve: 0.98, 95% CI 0.97 to 0.99). Mortality rates were 15.6% and 36.4% (p<0.001) in the training cohort and 13.6% and 37.5% (p<0.001) in the validation cohort (N=207). The 'reactive phenotype' was independent from confounders associated with intensive care unit mortality (training cohort: OR 1.13, 95% CI 1.04 to 1.23; validation cohort: OR 1.18, 95% CI 1.06 to 1.31). Patients with ARDS can be clustered into two biological phenotypes, with different mortality rates. Four biomarkers can be used to predict the phenotype with high accuracy. The phenotypes were very similar to those found in cohorts derived from randomised controlled trials, and these results may improve patient selection for future clinical trials targeting host response in patients with ARDS. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Individual variation in functional brain connectivity: implications for personalized approaches to psychiatric disease.

PubMed

Finn, Emily S; Todd Constable, R

2016-09-01

Functional brain connectivity measured with functional magnetic resonance imaging (fMRI) is a popular technique for investigating neural organization in both healthy subjects and patients with mental illness. Despite a rapidly growing body of literature, however, functional connectivity research has yet to deliver biomarkers that can aid psychiatric diagnosis or prognosis at the single-subject level. One impediment to developing such practical tools has been uncertainty regarding the ratio of intra- to interindividual variability in functional connectivity; in other words, how much variance is state- versus trait-related. Here, we review recent evidence that functional connectivity profiles are both reliable within subjects and unique across subjects, and that features of these profiles relate to behavioral phenotypes. Together, these results suggest the potential to discover reliable correlates of present and future illness and/or response to treatment in the strength of an individual's functional brain connections. Ultimately, this work could help develop personalized approaches to psychiatric illness.

Induction of Maternal Immune Activation in Mice at Mid-gestation Stage with Viral Mimic Poly(I:C)

PubMed Central

Wu, Wei-Li

2016-01-01

Maternal immune activation (MIA) model is increasingly well appreciated as a rodent model for the environmental risk factor of various psychiatric disorders. Numerous studies have demonstrated that MIA model is able to show face, construct, and predictive validity that are relevant to autism and schizophrenia. To model MIA, investigators often use viral mimic polyinosinic:polycytidylic acid (poly(I:C)) to activate the immune system in pregnant rodents. Generally, the offspring from immune activated dam exhibit behavioral abnormalities and physiological alterations that are associated with autism and schizophrenia. However, poly(I:C) injection with different dosages and at different time points could lead to different outcomes by perturbing brain development at different stages. Here we provide a detailed method of inducing MIA by intraperitoneal (i.p.) injection of 20 mg/kg poly(I:C) at mid-gestational embryonic 12.5 days (E12.5). This method has been shown to induce acute inflammatory response in the maternal-placental-fetal axis, which ultimately results in the brain perturbations and behavioral phenotypes that are associated with autism and schizophrenia. PMID:27078638

Induction of Maternal Immune Activation in Mice at Mid-gestation Stage with Viral Mimic Poly(I:C).

PubMed

Chow, Ke-Huan; Yan, Zihao; Wu, Wei-Li

2016-03-25

Maternal immune activation (MIA) model is increasingly well appreciated as a rodent model for the environmental risk factor of various psychiatric disorders. Numerous studies have demonstrated that MIA model is able to show face, construct, and predictive validity that are relevant to autism and schizophrenia. To model MIA, investigators often use viral mimic polyinosinic:polycytidylic acid (poly(I:C)) to activate the immune system in pregnant rodents. Generally, the offspring from immune activated dam exhibit behavioral abnormalities and physiological alterations that are associated with autism and schizophrenia. However, poly(I:C) injection with different dosages and at different time points could lead to different outcomes by perturbing brain development at different stages. Here we provide a detailed method of inducing MIA by intraperitoneal (i.p.) injection of 20 mg/kg poly(I:C) at mid-gestational embryonic 12.5 days (E12.5). This method has been shown to induce acute inflammatory response in the maternal-placental-fetal axis, which ultimately results in the brain perturbations and behavioral phenotypes that are associated with autism and schizophrenia.

A secondstep in development of a checklist for screening risk for violence in acute psychiatric patients: evaluation of interrater reliability of the Preliminary Scheme 33.

PubMed

Bjørkly, Stål; Moger, Tron A

2007-12-01

The Acute Project is a research project conducted on acute psychiatric admission wards in Norway. The objective is to develop and validate a structured, easy-to-use screening checklist for assessment of risk for violence in patients both during their stay in the ward and after discharge. The Preliminary Scheme 33 is a 33-item screening checklist with content domain inspired by the Historical-Clinical-Risk Management Scheme (HCR-20), the Brøset Violence Checklist, and eight risk factors extracted from the literature on risk assessment. The Preliminary Scheme 33 was designed and tested in two steps by a research group which includes the authors. The common aim of both steps was to develop this into a time economical, reliable, and valid checklist. In the first step in 2006 the predictive validity of the individual items was tested. The present work presents results from the second step, a study conducted to assess the interrater reliability of the 33 items. Eight clinicians working in an acute psychiatric unit volunteered to be raters and were trained to score the 33 items on a three-point scale in relation to 15 clinical vignettes, which contained information from 15 acute psychiatric patients' files. Analysis showed high interrater reliability for the total score with an intraclass correlation coefficient (ICC) of .86 (95% CI: 0.74-0.94). However, a substantial proportion of the items had medium to low ICCs. Consequences of this finding for further development of these items into a brief screen are discussed.

Childhood abuse, family history and stressors in older patients with bipolar disorder in relation to age at onset.

PubMed

Thesing, C S; Stek, M L; van Grootheest, D S; van de Ven, P M; Beekman, A T; Kupka, R W; Comijs, H C; Dols, A

2015-09-15

The aim of this study is to explore the family history of psychiatric disorders, childhood abuse, and stressors in older patients with Bipolar Disorder (BD) and the association of these variables with the age at onset of BD. The Questionnaire for Bipolar Disorder (QBP) and the Mini International Neuropsychiatric Interview (MINI-Plus) were obtained from 78 patients aged 60 and over to determine diagnosis, age at onset of the first affective episode, childhood abuse, family history of psychiatric disorders and past and recent stressful life events. Increased family history of psychiatric disorders was the only factor associated with an earlier age at onset of BD. Less family history of psychiatric disorders and more negative stressors were significantly associated with a later age at onset of the first (hypo)manic episode. Age at onset, history of childhood abuse, and past stressful life events were assessed retrospectively. Family members of BD patients were not interviewed. Our findings suggest that age at onset can define distinct BD phenotypes. More specifically there was a stronger heredity of BD and other psychiatric disorders in patients with an early age of onset of BD. Negative stressors may play a specific role in patients with a late age at onset of a first (hypo)manic episode. Copyright © 2015 Elsevier B.V. All rights reserved.

Mice Lacking the Circadian Modulators SHARP1 and SHARP2 Display Altered Sleep and Mixed State Endophenotypes of Psychiatric Disorders

PubMed Central

Shahmoradi, Ali; Reinecke, Lisa; Kroos, Christina; Wichert, Sven P.; Oster, Henrik; Wehr, Michael C.; Taneja, Reshma; Hirrlinger, Johannes; Rossner, Moritz J.

2014-01-01

Increasing evidence suggests that clock genes may be implicated in a spectrum of psychiatric diseases, including sleep and mood related disorders as well as schizophrenia. The bHLH transcription factors SHARP1/DEC2/BHLHE41 and SHARP2/DEC1/BHLHE40 are modulators of the circadian system and SHARP1/DEC2/BHLHE40 has been shown to regulate homeostatic sleep drive in humans. In this study, we characterized Sharp1 and Sharp2 double mutant mice (S1/2-/-) using online EEG recordings in living animals, behavioral assays and global gene expression profiling. EEG recordings revealed attenuated sleep/wake amplitudes and alterations of theta oscillations. Increased sleep in the dark phase is paralleled by reduced voluntary activity and cortical gene expression signatures reveal associations with psychiatric diseases. S1/2-/- mice display alterations in novelty induced activity, anxiety and curiosity. Moreover, mutant mice exhibit impaired working memory and deficits in prepulse inhibition resembling symptoms of psychiatric diseases. Network modeling indicates a connection between neural plasticity and clock genes, particularly for SHARP1 and PER1. Our findings support the hypothesis that abnormal sleep and certain (endo)phenotypes of psychiatric diseases may be caused by common mechanisms involving components of the molecular clock including SHARP1 and SHARP2. PMID:25340473

Competency of psychiatric residents in the treatment of people with severe mental illness before and after a community psychiatry rotation.

PubMed

Randall, Melinda; Romero-Gonzalez, Mauricio; Gonzalez, Gerardo; Klee, Anne; Kirwin, Paul

2011-01-01

psychiatric rehabilitation is an evidence-based service with the goal of recovery for people with severe mental illness. Psychiatric residents should understand the services and learn the principles of psychiatric rehabilitation. This study assessed whether a 3-month rotation in a psychiatric rehabilitation center changes the competency level of second-year psychiatric residents in evidence-based treatment of severe mental illness. the study is a prospective, case-control comparison using the validated Competency Assessment Instrument (CAI), which measures 15 provider competencies critical to recovery, rehabilitation, and empowerment for people with severe mental illness, providing a score for each competency. Participants were second-year psychiatric residents attending a 3-month rotation at the Community Reintegration Program, a psychiatric rehabilitation day program. The authors administered the CAI at the beginning and the end of the residents' 3-month rotation in order to assess change in their competency in psychiatric rehabilitation. The authors also administered the CAI to a comparison group of second-year psychiatric residents who did not rotate through the Community Reintegration Program, and therefore had no formal training in psychiatric rehabilitation. a 3-month rotation in psychiatric rehabilitation significantly improved residents' competency in the domains of goal functioning, client preferences, holistic approach, skills, and team value relative to nonrotating residents. a brief community psychiatry rotation in the second year of residency likely improves some skills in the treatment of people with severe mental illness. Future research should evaluate year-long electives and public psychiatry fellowships.

Secondary Traumatization in Psychiatric Mental Health Nurses: Validation of Five Key Concepts.

PubMed

Hubbard, Grace B; Beeber, Linda; Eves, Erin

2017-04-01

The purpose of this study was to validate five concepts central to secondary traumatization (ST) using narratives of psychiatric mental health advanced practice nurses. The study was designed as a directed content analysis of narrative notes (N-30). Consistency was found between narrative notes and the concepts. This study revealed that exposure and vulnerability precede empathic engagement, reaction, and alteration/transformation. The bidirectional outcome of alteration/transformation suggested that conditions leading to ST could have a positive outcome. Failure to recognize symptoms of ST and provide reflective supervision may compromise the nurse's ability to maintain a work-life balance and provide quality patient care. © 2015 Wiley Periodicals, Inc.

Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.

PubMed

Teng, S; Thomson, P A; McCarthy, S; Kramer, M; Muller, S; Lihm, J; Morris, S; Soares, D C; Hennah, W; Harris, S; Camargo, L M; Malkov, V; McIntosh, A M; Millar, J K; Blackwood, D H; Evans, K L; Deary, I J; Porteous, D J; McCombie, W R

2018-05-01

Schizophrenia (SCZ), bipolar disorder (BD) and recurrent major depressive disorder (rMDD) are common psychiatric illnesses. All have been associated with lower cognitive ability, and show evidence of genetic overlap and substantial evidence of pleiotropy with cognitive function and neuroticism. Disrupted in schizophrenia 1 (DISC1) protein directly interacts with a large set of proteins (DISC1 Interactome) that are involved in brain development and signaling. Modulation of DISC1 expression alters the expression of a circumscribed set of genes (DISC1 Regulome) that are also implicated in brain biology and disorder. Here we report targeted sequencing of 59 DISC1 Interactome genes and 154 Regulome genes in 654 psychiatric patients and 889 cognitively-phenotyped control subjects, on whom we previously reported evidence for trait association from complete sequencing of the DISC1 locus. Burden analyses of rare and singleton variants predicted to be damaging were performed for psychiatric disorders, cognitive variables and personality traits. The DISC1 Interactome and Regulome showed differential association across the phenotypes tested. After family-wise error correction across all traits (FWER across ), an increased burden of singleton disruptive variants in the Regulome was associated with SCZ (FWER across P=0.0339). The burden of singleton disruptive variants in the DISC1 Interactome was associated with low cognitive ability at age 11 (FWER across P=0.0043). These results identify altered regulation of schizophrenia candidate genes by DISC1 and its core Interactome as an alternate pathway for schizophrenia risk, consistent with the emerging effects of rare copy number variants associated with intellectual disability.

Multiplex Immunoassay of Plasma Cytokine Levels in Men with Alcoholism and the Relationship to Psychiatric Assessments

PubMed Central

Manzardo, Ann M.; Poje, Albert B.; Penick, Elizabeth C.; Butler, Merlin G.

2016-01-01

Chronic alcohol use alters adaptive immunity and cytokine activity influencing immunological and hormone responses, inflammation, and wound healing. Brain cytokine disturbances may impact neurological function, mood, cognition and traits related to alcoholism including impulsiveness. We examined the relationship between plasma cytokine levels and self-rated psychiatric symptoms in 40 adult males (mean age 51 ± 6 years; range 33–58 years) with current alcohol dependence and 30 control males (mean age 48 ± 6 years; range 40–58 years) with no history of alcoholism using multiplex sandwich immunoassays with the Luminex magnetic-bead based platform. Log-transformed cytokine levels were analyzed for their relationship with the Symptom Checklist-90R (SCL-90R), Barratt Impulsivity Scales (BIS) and Alcoholism Severity Scale (ASS). Inflammatory cytokines (interferon γ-induced protein-10 (IP-10); monocyte chemoattractant protein-1 (MCP1); regulated on activation, normal T cell expressed and secreted (RANTES)) were significantly elevated in alcoholism compared to controls while bone marrow-derived hematopoietic cytokines and chemokines (granulocyte-colony stimulating factor (GCSF); soluble CD40 ligand (sCD40L); growth-related oncogene (GRO)) were significantly reduced. GRO and RANTES levels were positively correlated with BIS scales; and macrophage-derived chemokine (MDC) levels were positively correlated with SCL-90R scale scores (p < 0.05). Elevated inflammatory mediators in alcoholism may influence brain function leading to increased impulsiveness and/or phobia. The novel association between RANTES and GRO and impulsivity phenotype in alcoholism should be further investigated in alcoholism and psychiatric conditions with core impulsivity and anxiety phenotypes lending support for therapeutic intervention. PMID:27043532

Multiplex Immunoassay of Plasma Cytokine Levels in Men with Alcoholism and the Relationship to Psychiatric Assessments.

PubMed

Manzardo, Ann M; Poje, Albert B; Penick, Elizabeth C; Butler, Merlin G

2016-03-29

Chronic alcohol use alters adaptive immunity and cytokine activity influencing immunological and hormone responses, inflammation, and wound healing. Brain cytokine disturbances may impact neurological function, mood, cognition and traits related to alcoholism including impulsiveness. We examined the relationship between plasma cytokine levels and self-rated psychiatric symptoms in 40 adult males (mean age 51 ± 6 years; range 33-58 years) with current alcohol dependence and 30 control males (mean age 48 ± 6 years; range 40-58 years) with no history of alcoholism using multiplex sandwich immunoassays with the Luminex magnetic-bead based platform. Log-transformed cytokine levels were analyzed for their relationship with the Symptom Checklist-90R (SCL-90R), Barratt Impulsivity Scales (BIS) and Alcoholism Severity Scale (ASS). Inflammatory cytokines (interferon γ-induced protein-10 (IP-10); monocyte chemoattractant protein-1 (MCP1); regulated on activation, normal T cell expressed and secreted (RANTES)) were significantly elevated in alcoholism compared to controls while bone marrow-derived hematopoietic cytokines and chemokines (granulocyte-colony stimulating factor (GCSF); soluble CD40 ligand (sCD40L); growth-related oncogene (GRO)) were significantly reduced. GRO and RANTES levels were positively correlated with BIS scales; and macrophage-derived chemokine (MDC) levels were positively correlated with SCL-90R scale scores (p < 0.05). Elevated inflammatory mediators in alcoholism may influence brain function leading to increased impulsiveness and/or phobia. The novel association between RANTES and GRO and impulsivity phenotype in alcoholism should be further investigated in alcoholism and psychiatric conditions with core impulsivity and anxiety phenotypes lending support for therapeutic intervention.

Uncovering genes for cognitive (dys)function and predisposition for alcoholism spectrum disorders: A review of human brain oscillations as effective endophenotypes

PubMed Central

Rangaswamy, Madhavi; Porjesz, Bernice

2010-01-01

Brain oscillations provide a rich source of potentially useful endophenotypes (intermediate phenotypes) for psychiatric genetics, as they represent important correlates of human information processing and are associated with fundamental processes from perception to cognition. These oscillations are highly heritable, are modulated by genes controlling neurotransmitters in the brain, and provide links to associative and integrative brain functions. These endophenotypes represent traits that are less complex and more proximal to gene function than either diagnostic labels or traditional cognitive measures, providing a powerful strategy in searching for genes in psychiatric disorders. These intermediate phenotypes identify both affected and unaffected members of an affected family, including offspring at risk, providing a more direct connection with underlying biological vulnerability. Our group has utilized heritable neurophysiological features (i.e., brain oscillations) as endophenotypes, making it possible to identify susceptibility genes that may be difficult to detect with diagnosis alone. We have discussed our findings of significant linkage and association between brain oscillations and genes in GABAergic, cholinergic and glutamatergic systems (GABRA2, CHRM2, and GRM8). We have also shown that some oscillatory indices from both resting and active cognitive states have revealed a common subset of genetic foci that are shared with the diagnosis of alcoholism and related disorders. Implications of our findings have been discussed in the context of physiological and pharmacological studies on receptor function. These findings underscore the utility of quantitative neurophysiological endophenotypes in the study of the genetics of brain function and the genetic diathesis underlying complex psychiatric disorders. PMID:18634760

Uncovering genes for cognitive (dys)function and predisposition for alcoholism spectrum disorders: a review of human brain oscillations as effective endophenotypes.

PubMed

Rangaswamy, Madhavi; Porjesz, Bernice

2008-10-15

Brain oscillations provide a rich source of potentially useful endophenotypes (intermediate phenotypes) for psychiatric genetics, as they represent important correlates of human information processing and are associated with fundamental processes from perception to cognition. These oscillations are highly heritable, are modulated by genes controlling neurotransmitters in the brain, and provide links to associative and integrative brain functions. These endophenotypes represent traits that are less complex and more proximal to gene function than either diagnostic labels or traditional cognitive measures, providing a powerful strategy in searching for genes in psychiatric disorders. These intermediate phenotypes identify both affected and unaffected members of an affected family, including offspring at risk, providing a more direct connection with underlying biological vulnerability. Our group has utilized heritable neurophysiological features (i.e., brain oscillations) as endophenotypes, making it possible to identify susceptibility genes that may be difficult to detect with diagnosis alone. We have discussed our findings of significant linkage and association between brain oscillations and genes in GABAergic, cholinergic and glutamatergic systems (GABRA2, CHRM2, and GRM8). We have also shown that some oscillatory indices from both resting and active cognitive states have revealed a common subset of genetic foci that are shared with the diagnosis of alcoholism and related disorders. Implications of our findings have been discussed in the context of physiological and pharmacological studies on receptor function. These findings underscore the utility of quantitative neurophysiological endophenotypes in the study of the genetics of brain function and the genetic diathesis underlying complex psychiatric disorders.

Neurodevelopmental disorders: cluster 2 of the proposed meta-structure for DSM-V and ICD-11.

PubMed

Andrews, G; Pine, D S; Hobbs, M J; Anderson, T M; Sunderland, M

2009-12-01

DSM-IV and ICD-10 are atheoretical and largely descriptive. Although this achieves good reliability, the validity of diagnoses can be increased by an understanding of risk factors and other clinical features. In an effort to group mental disorders on this basis, five clusters have been proposed. We now consider the second cluster, namely neurodevelopmental disorders. We reviewed the literature in relation to 11 validating criteria proposed by a DSM-V Task Force Study Group. This cluster reflects disorders of neurodevelopment rather than a 'childhood' disorders cluster. It comprises disorders subcategorized in DSM-IV and ICD-10 as Mental Retardation; Learning, Motor, and Communication Disorders; and Pervasive Developmental Disorders. Although these disorders seem to be heterogeneous, they share similarities on some risk and clinical factors. There is evidence of a neurodevelopmental genetic phenotype, the disorders have an early emerging and continuing course, and all have salient cognitive symptoms. Within-cluster co-morbidity also supports grouping these disorders together. Other childhood disorders currently listed in DSM-IV share similarities with the Externalizing and Emotional clusters. These include Conduct Disorder, Attention Deficit Hyperactivity Disorder and Separation Anxiety Disorder. The Tic, Eating/Feeding and Elimination disorders, and Selective Mutisms were allocated to the 'Not Yet Assigned' group. Neurodevelopmental disorders meet some of the salient criteria proposed by the American Psychiatric Association (APA) to suggest a classification cluster.

Life Satisfaction in Persons with Schizophrenia Living in the Community: Validation of the Satisfaction with Life Scale

ERIC Educational Resources Information Center

Wu, Chia-Huei; Wu, Chin-Yu

2008-01-01

Subjective well-being is an increasingly common indicator of adequacy of psychiatric services. An easy-to-administer assessment tool of subjective well-being that is conceptually sound, valid, and reliable is needed for use in persons with schizophrenia. The purpose of this paper was to validate the 5-item Satisfaction with Life Scale…

The Validity of Individual Rorschach Variables: Systematic Reviews and Meta-Analyses of the Comprehensive System

ERIC Educational Resources Information Center

Mihura, Joni L.; Meyer, Gregory J.; Dumitrascu, Nicolae; Bombel, George

2013-01-01

We systematically evaluated the peer-reviewed Rorschach validity literature for the 65 main variables in the popular Comprehensive System (CS). Across 53 meta-analyses examining variables against externally assessed criteria (e.g., observer ratings, psychiatric diagnosis), the mean validity was r = 0.27 (k = 770) as compared to r = 0.08 (k = 386)…

[Validity of the Child Psychiatric Hospital Teacher Questionnaire for the assessment of ADHD. Teacher's version].

PubMed

Ulloa, R E; Narváez, M R; Arroyo, E; del Bosque, J; de la Peña, F

2009-01-01

Teacher's rating scales for the evaluation of attention deficit and superactivity disorder (TDAH) and conduct disorders have been shown to be useful and valid tools. The Child Psychiatric Hospital Teacher Questionnaire (CPHTQ) of the Hospital Psiquiátrico Infantil Dr. Juan N. Navarro was designed for the assessment of ADHD symptoms, externalizing symptoms and school functioning difficulties of children and adolescents. Internal consistency, criterion validity, construct validity and sensitivity of the scale to changes in symptom severity were evaluated in this study. The scale was administered to 282 teachers of children and adolescents aged 5 to 17 years who came to a unit specialized in child psychiatry. The validity analysis of the instrument showed that the internal consistency measured by Cronbach's alpha was 0.94. The factorial analysis yielded 5 factors accounting for 59.1% of the variance: hyperactivity and conduct symptoms, predatory, conduct disorder, inattentive, poor functioning and motor disturbances. The CPHTQ scores on the scale showed positive correlation with the Clinical Global impression (CGI) scale in the patients' response to drug treatment. The CPHTQ shows adequate validity characteristics that demonstrate its utility in the evaluation of patients with ADHD and its comorbidity with other behavior disorders.

A preliminary study of Patient Dignity Inventory validation among patients hospitalized in an acute psychiatric ward

PubMed Central

Di Lorenzo, Rosaria; Cabri, Giulio; Carretti, Eleonora; Galli, Giacomo; Giambalvo, Nina; Rioli, Giulia; Saraceni, Serena; Spiga, Giulia; Del Giovane, Cinzia; Ferri, Paola

2017-01-01

Purpose To investigate the perception of dignity among patients hospitalized in a psychiatric setting using the Patient Dignity Inventory (PDI), which had been first validated in oncologic field among terminally ill patients. Patients and methods After having modified two items, we administered the Italian version of PDI to all patients hospitalized in a public psychiatric ward (Service of Psychiatric Diagnosis and Treatment of a northern Italian town), who provided their consent and completed it at discharge, from October 21, 2015 to May 31, 2016. We excluded minors and patients with moderate/severe dementia, with poor knowledge of Italian language, who completed PDI in previous hospitalizations and/or were hospitalized for <72 hours. We collected the demographic and clinical variables of our sample (n=135). We statistically analyzed PDI scores, performing Cronbach’s alpha coefficient and principal factor analysis, followed by orthogonal and oblique rotation. We concomitantly administered to our sample other scales (Hamilton Rating Scales for Depression and Anxiety, Global Assessment of Functioning and Health of the Nation Outcome Scales) to analyze the PDI concurrent validity. Results With a response rate of 93%, we obtained a mean PDI score of 48.27 (±19.59 SD) with excellent internal consistency (Cronbach’s alpha coefficient =0.93). The factorial analysis showed the following three factors with eigenvalue >1 (Kaiser’s criterion), which explained >80% of total variance with good internal consistency: 1) “Loss of self-identity and social role”, 2) “Anxiety and uncertainty for future” and 3) “Loss of personal autonomy”. The PDI and the three-factor scores were statistically significantly positively correlated with the Hamilton Scales for Depression and Anxiety but not with other scale scores. Conclusion Our preliminary research suggests that PDI can be a reliable tool to assess patients’ dignity perception in a psychiatric setting, until now little investigated, helping professionals to improve quality of care and patients to accept treatments. PMID:28182110

The psychoactive effects of psychiatric medication: the elephant in the room.

PubMed

Moncrieff, Joanna; Cohen, David; Porter, Sally

2013-01-01

The psychoactive effects of psychiatric medications have been obscured by the presumption that these medications have disease-specific actions. Exploiting the parallels with the psychoactive effects and uses of recreational substances helps to highlight the psychoactive properties of psychiatric medications and their impact on people with psychiatric problems. We discuss how psychoactive effects produced by different drugs prescribed in psychiatric practice might modify various disturbing and distressing symptoms, and we also consider the costs of these psychoactive effects on the mental well-being of the user. We examine the issue of dependence, and the need for support for people wishing to withdraw from psychiatric medication. We consider how the reality of psychoactive effects undermines the idea that psychiatric drugs work by targeting underlying disease processes, since psychoactive effects can themselves directly modify mental and behavioral symptoms and thus affect the results of placebo-controlled trials. These effects and their impact also raise questions about the validity and importance of modern diagnosis systems. Extensive research is needed to clarify the range of acute and longer-term mental, behavioral, and physical effects induced by psychiatric drugs, both during and after consumption and withdrawal, to enable users and prescribers to exploit their psychoactive effects judiciously in a safe and more informed manner.

The Psychoactive Effects of Psychiatric Medication: The Elephant in the Room

PubMed Central

Cohen, David; Porter, Sally

2013-01-01

The psychoactive effects of psychiatric medications have been obscured by the presumption that these medications have disease-specific actions. Exploiting the parallels with the psychoactive effects and uses of recreational substances helps to highlight the psychoactive properties of psychiatric medications and their impact on people with psychiatric problems. We discuss how psychoactive effects produced by different drugs prescribed in psychiatric practice might modify various disturbing and distressing symptoms, and we also consider the costs of these psychoactive effects on the mental well-being of the user. We examine the issue of dependence, and the need for support for people wishing to withdraw from psychiatric medication. We consider how the reality of psychoactive effects undermines the idea that psychiatric drugs work by targeting underlying disease processes, since psychoactive effects can themselves directly modify mental and behavioral symptoms and thus affect the results of placebo-controlled trials. These effects and their impact also raise questions about the validity and importance of modern diagnosis systems. Extensive research is needed to clarify the range of acute and longer-term mental, behavioral, and physical effects induced by psychiatric drugs, both during and after consumption and withdrawal, to enable users and prescribers to exploit their psychoactive effects judiciously in a safe and more informed manner. PMID:24592667

Five Systems of Psychiatric Classification for Preschool Children: Do Differences in Validity, Usefulness and Reliability Make for Competitive or Complimentary Constellations?

ERIC Educational Resources Information Center

Postert, Christian; Averbeck-Holocher, Marlies; Beyer, Thomas; Muller, Jorg; Furniss, Tilman

2009-01-01

"DSM-IV" and "ICD-10" have limitations in the diagnostic classification of psychiatric disorders at preschool age (0-5 years). The publication of the "Diagnostic Classification 0-3 (DC:0-3)" in 1994, its basically revised second edition ("DC:0-3R") in 2005 and the "Research Diagnostic Criteria-Preschool Age (RDC-PA)" in 2004 have provided several…

Autistic Features in Girls from a Psychiatric Sample Are Strongly Associated with a Low 2D:4D Ratio

ERIC Educational Resources Information Center

De Bruin, Esther I.; De Nijs, Pieter F. A.; Verheij, Fop; Verhagen, Debora H.; Ferdinand, Robert F.

2009-01-01

Autistic features such as deficits in social interactions and communication have been associated with a low 2D:4D ratio in normal children.This study assessed this association in a large sample of children with a variety of psychiatric disorders (n = 35 girls and n = 147 boys). Autistic features were assessed with a highly valid and reliable…

Validation of a German version of the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E).

PubMed

Metternich, Birgitta; Wagner, Kathrin; Buschmann, Franziska; Anger, Robin; Schulze-Bonhage, Andreas

2012-12-01

Goal of the present study was the validation of a German version of the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E). 197 adult epilepsy patients completed the NDDI-E (185 completed both the NDDI-E and BDI). 95 patients received psychiatric consults. 33 patients received a diagnosis of major depression according to ICD-10 criteria. Internal consistency of the NDDI-E was .83. Receiver operating characteristics (ROC) showed an area under the curve of 0.92. Applying a cutoff score of ≥14 resulted in both sensitivity and specificity of 0.85. In the subsample with psychiatric consult, at the same optimal cutoff, sensitivity was 0.92, and specificity was 0.86. Further analyses showed a high concurrent validity with the BDI. The German version of the NDDI-E constitutes a brief and reliable depression screening instrument for epilepsy patients. Copyright © 2012 Elsevier Inc. All rights reserved.

Validation and factor structure of the Thai version of the EURO-D scale for depression among older psychiatric patients.

PubMed

Jirapramukpitak, Tawanchai; Darawuttimaprakorn, Niphon; Punpuing, Sureeporn; Abas, Melanie

2009-11-01

To assess the concurrent and the construct validity of the Euro-D in older Thai persons. Eight local psychiatrists used the major depressive episode section of the Mini International Neuropsychiatric Interview to interview 150 consecutive psychiatric clinic attendees. A trained interviewer administered the Euro-D. We used receiver operating characteristic (ROC) analysis to assess the overall discriminability of the Euro-D scale and principal components factor analysis to assess its construct validity. The area under the ROC curve for the Euro-D with respect to major depressive episode was 0.78 [95% confidence interval (CI) 0.70-0.90] indicating moderately good discriminability. At a cut-point of 5/6 the sensitivity for major depressive episodes is 84.3%, specificity 58.6%, and kappa 0.37 (95% CI 0.22-0.52) indicating fair concordance. However, at the 3/4 cut-point recommended from European studies there is high sensitivity (94%) but poor specificity (34%). The principal components analysis suggested four factors. The first two factors conformed to affective suffering (depression, suicidality and tearfulness) and motivation (interest, concentration and enjoyment). Sleep and appetite constituted a separate factor, whereas pessimism loaded on its own factor. Among Thai psychiatric clinic attendees Euro-D is moderately valid for major depression. A much higher cut-point may be required than that which is usually advocated. The Thai version also shares two common factors as reported from most of previous studies.

Current psychiatric disorders in patients with epilepsy are predicted by maltreatment experiences during childhood.

PubMed

Labudda, Kirsten; Illies, Dominik; Herzig, Cornelia; Schröder, Katharina; Bien, Christian G; Neuner, Frank

2017-09-01

Childhood maltreatment has been shown to be a risk factor for the development of psychiatric disorders. Although the prevalence of psychiatric disorders is high in epilepsy patients, it is unknown if childhood maltreatment experiences are elevated compared to the normal population and if early maltreatment is a risk factor for current psychiatric comorbidities in epilepsy patients. This is the main purpose of this study. Structured interviews were used to assess current Axis I diagnoses in 120 epilepsy patients from a tertiary Epilepsy Center (34 TLE patients, 86 non-TLE patients). Childhood maltreatment in the family and peer victimization were assessed with validated questionnaires. Patients' maltreatment scores were compared with those of a representative matched control group. Logistic regression analysis was conducted to assess the potential impact of childhood maltreatment on current psychiatric comorbidity in epilepsy patients. Compared to a matched control group, epilepsy patients had higher emotional and sexual maltreatment scores. Patients with a current psychiatric diagnosis reported more family and peer maltreatment than patients without a psychiatric disorder. Family maltreatment scores predicted the likelihood of a current psychiatric disorder. TLE patients did not differ from non-TLE patients according to maltreatment experiences and rates of current psychiatric disorders. Our findings suggest that in epilepsy patients emotional and sexual childhood maltreatment is experienced more often than in the normal population and that early maltreatment is a general risk factor for psychiatric comorbidities in this group. Copyright © 2017 Elsevier B.V. All rights reserved.

Neuropathic pain phenotyping by international consensus (NeuroPPIC) for genetic studies: a NeuPSIG systematic review, Delphi survey, and expert panel recommendations

PubMed Central

van Hecke, Oliver; Kamerman, Peter R.; Attal, Nadine; Baron, Ralf; Bjornsdottir, Gyda; Bennett, David L.H.; Bennett, Michael I.; Bouhassira, Didier; Diatchenko, Luda; Freeman, Roy; Freynhagen, Rainer; Haanpää, Maija; Jensen, Troels S.; Raja, Srinivasa N.; Rice, Andrew S.C.; Seltzer, Ze'ev; Thorgeirsson, Thorgeir E.; Yarnitsky, David; Smith, Blair H.

2015-01-01

Abstract For genetic research to contribute more fully to furthering our knowledge of neuropathic pain, we require an agreed, valid, and feasible approach to phenotyping, to allow collaboration and replication in samples of sufficient size. Results from genetic studies on neuropathic pain have been inconsistent and have met with replication difficulties, in part because of differences in phenotypes used for case ascertainment. Because there is no consensus on the nature of these phenotypes, nor on the methods of collecting them, this study aimed to provide guidelines on collecting and reporting phenotypes in cases and controls for genetic studies. Consensus was achieved through a staged approach: (1) systematic literature review to identify all neuropathic pain phenotypes used in previous genetic studies; (2) Delphi survey to identify the most useful neuropathic pain phenotypes and their validity and feasibility; and (3) meeting of experts to reach consensus on the optimal phenotype(s) to be collected from patients with neuropathic pain for genetic studies. A basic “entry level” set of phenotypes was identified for any genetic study of neuropathic pain. This set identifies cases of “possible” neuropathic pain, and controls, and includes: (1) a validated symptom-based questionnaire to determine whether any pain is likely to be neuropathic; (2) body chart or checklist to identify whether the area of pain distribution is neuroanatomically logical; and (3) details of pain history (intensity, duration, any formal diagnosis). This NeuroPPIC “entry level” set of phenotypes can be expanded by more extensive and specific measures, as determined by scientific requirements and resource availability. PMID:26469320

Core domains of shared decision-making during psychiatric visits: scientific and preference-based discussions.

PubMed

Fukui, Sadaaki; Matthias, Marianne S; Salyers, Michelle P

2015-01-01

Shared decision-making (SDM) is imperative to person-centered care, yet little is known about what aspects of SDM are targeted during psychiatric visits. This secondary data analysis (191 psychiatric visits with 11 providers, coded with a validated SDM coding system) revealed two factors (scientific and preference-based discussions) underlying SDM communication. Preference-based discussion occurred less. Both provider and consumer initiation of SDM elements and decision complexity were associated with greater discussions in both factors, but were more strongly associated with scientific discussion. Longer visit length correlated with only scientific discussion. Providers' understanding of core domains could facilitate engaging consumers in SDM.

Moving Ahead with the Schizophrenia Concept: From the Elephant to the Mouse

PubMed Central

Keshavan, Matcheri S; Nasrallah, Henry A; Tandon, Rajiv

2012-01-01

The current construct of schizophrenia as a unitary disease is far from satisfactory, and is in need of reconceptualization. The first five papers in our “facts” series reviewed what is known about schizophrenia to date, and a limited number of key facts appear to stand out. Schizophrenia is characterized by persistent cognitive deficits, positive and negative symptoms typically beginning in youth, substantive heritability, and brain structural, functional and neurochemical alterations including dopaminergic dysregulation. Several pathophysiological models have been proposed with differing interpretations of the illness, like the fabled six blind Indian men groping different parts of an elephant coming up with different conclusions. However, accumulating knowledge is integrating the several extant models of schizophrenia etiopathogenesis into unifying constructs; we discuss an example, involving a neurodevelopmental imbalance in excitatory/inhibitory neural systems leading to impaired neural plasticity. This imbalance, which may be proximal to clinical manifestations, could result from a variety of genetic, epigenetic and environmental causes, as well as pathophysiological processes such as inflammation and oxidative stress. Such efforts to “connect the dots” (and visualizing the elephant) are still limited by the substantial clinical, pathological, and etiological heterogeneity of schizophrenia and its blurred boundaries with several other psychiatric disorders leading to a “fuzzy cluster” of overlapping syndromes, thereby reducing the content, discriminant and predictive validity of a unitary construct of this illness. The way ahead involves several key directions: a) choosing valid phenotype definitions increasingly derived from translational neuroscience; b) addressing clinical heterogeneity by a cross-diagnostic dimensional and a staging approach to psychopathology; c) addressing pathophysiological heterogeneity by elucidating independent families of “extended” intermediate phenotypes and pathophysiological processes (e.g. altered excitatory/inhibitory, salience or executive circuitries, oxidative stress systems) that traverse structural, functional, neurochemical and molecular domains; d) resolving etiologic heterogeneity by mapping genomic and environmental factors and their interactions to syndromal and specific pathophysiological signatures; e) separating causal factors from consequences and compensatory phenomena; and f) formulating or reformulating hypotheses that can be refuted/tested, perhaps in the mouse or other experimental models. These steps will likely lead to the current entity of schizophrenia being usefully deconstructed and reconfigured into phenotypically overlapping, but etiopathologically unique and empirically testable component entities (similar to mental retardation, epilepsy or cancer syndromes). The mouse may be the way to rescue the trapped elephant! PMID:21316923

External Validation of Bifactor Model of ADHD: Explaining Heterogeneity in Psychiatric Comorbidity, Cognitive Control, and Personality Trait Profiles within DSM-IV ADHD

ERIC Educational Resources Information Center

Martel, Michelle M.; Roberts, Bethan; Gremillion, Monica; von Eye, Alexander; Nigg, Joel T.

2011-01-01

The current paper provides external validation of the bifactor model of ADHD by examining associations between ADHD latent factor/profile scores and external validation indices. 548 children (321 boys; 302 with ADHD), 6 to 18 years old, recruited from the community participated in a comprehensive diagnostic procedure. Mothers completed the Child…

Maternal psychiatric disease and epigenetic evidence suggest a common biology for poor fetal growth.

PubMed

Ciesielski, Timothy H; Marsit, Carmen J; Williams, Scott M

2015-08-25

We sought to identify and characterize predictors of poor fetal growth among variables extracted from perinatal medical records to gain insight into potential etiologic mechanisms. In this process we reevaluated a previously observed association between poor fetal growth and maternal psychiatric disease. We evaluated 449 deliveries of >36 weeks gestation that occurred between 9/2008 and 9/2010 at the Women and Infants Hospital in Providence Rhode Island. This study group was oversampled for Small-for-Gestational-Age (SGA) infants and excluded Large-for-Gestational-Age (LGA) infants. We assessed the associations between recorded clinical variables and impaired fetal growth: SGA or Intrauterine Growth Restriction (IUGR) diagnosis. After validating the previously observed association between maternal psychiatric disease and impaired fetal growth we addressed weaknesses in the prior studies by explicitly considering antidepressant use and the timing of symptoms with respect to pregnancy. We then evaluated DNA methylation levels at 27 candidate loci in placenta from a subset of these deliveries (n = 197) to examine if epigenetic variation could provide insight into the mechanisms that cause this co-morbidity. Infants of mothers with prenatal psychiatric disease (Depression, Anxiety, OCD/Panic) had increased odds of poor fetal growth (ORadjusted = 3.36, 95%CI: 1.38-8.14). This relationship was similar among those who were treated with antidepressants (ORadjusted = 3.69, 95%CI: 1.31-10.45) and among those who were not (ORadjusted = 3.19, 95%CI: 1.30-7.83). Among those with a history of psychiatric disease but no active disease in pregnancy the ORadjusted was 0.45 (95%CI: 0.09-2.35). A locus near the transcription start site of the leptin receptor (cg21655790) had methylation levels that were decreased in the presence of: 1) SGA/IUGR, and 2) active but not resolved psychiatric disease (among mothers not on antidepressants). These results validate and further characterize the association between maternal psychiatric disease and poor fetal growth. Because the association appears to depend on active psychiatric disease, this suggests a transient and potentially modifiable pathophysiology. The molecular findings in this study suggest that altered leptin signaling may be involved in the biological mechanisms that link prenatal maternal psychiatric symptoms and poor fetal growth.

All this happened, more or less: thoughts on 'truth', the role of fiction and its potential application in mental health and psychiatric nursing research.

PubMed

Biley, F C

2009-12-01

Fundamental differences in the philosophy of history as an academic discipline are briefly explored, primarily from two perspectives. The traditional psychiatric and mental health nursing historian objectively uses primary sources in order to be able to make 'truth' claims about the past. The post-modern psychiatric nursing historian, on the other hand, constructs truth claims, rather than discovers them, and in the process of doing so creates historical discourses that are different from the past. To the postmodern psychiatric nursing historian, all histories are fictions, created with the use of imagination, and have characteristics that are similar to the literary constructions that are more traditionally identified as fiction. A variety of literature is used in order to explore such claims, and the conclusion is drawn that, with caution and careful attention to the rigorous use of historical method, fiction can be used as a valid source for historical research in psychiatric and mental health nursing.

Neuromarkers for Mental Disorders: Harnessing Population Neuroscience.

PubMed

Jollans, Lee; Whelan, Robert

2018-01-01

Despite abundant research into the neurobiology of mental disorders, to date neurobiological insights have had very little impact on psychiatric diagnosis or treatment. In this review, we contend that the search for neuroimaging biomarkers-neuromarkers-of mental disorders is a highly promising avenue toward improved psychiatric healthcare. However, many of the traditional tools used for psychiatric neuroimaging are inadequate for the identification of neuromarkers. Specifically, we highlight the need for larger samples and for multivariate analysis. Approaches such as machine learning are likely to be beneficial for interrogating high-dimensional neuroimaging data. We suggest that broad, population-based study designs will be important for developing neuromarkers of mental disorders, and will facilitate a move away from a phenomenological definition of mental disorder categories and toward psychiatric nosology based on biological evidence. We provide an outline of how the development of neuromarkers should occur, emphasizing the need for tests of external and construct validity, and for collaborative research efforts. Finally, we highlight some concerns regarding the development, and use of, neuromarkers in psychiatric healthcare.

Patient-Reported Outcomes of Quality of Life, Functioning, and GI/Psychiatric Symptom Severity in Patients with Inflammatory Bowel Disease (IBD).

PubMed

IsHak, Waguih W; Pan, Dana; Steiner, Alexander J; Feldman, Edward; Mann, Amy; Mirocha, James; Danovitch, Itai; Melmed, Gil Y

2017-05-01

Patients with inflammatory bowel disease (IBD) are at risk for psychiatric disorders that impact symptom experience and health-related quality of life (HRQOL). Therefore, comprehensive biopsychosocial assessments should be considered in ambulatory care settings. Patient-Reported Outcomes Measurement Information System (PROMIS) measures created by the National Institutes of Health have shown construct validity in a large IBD internet-based cohort, but their validity in ambulatory settings has not been examined. We sought to validate PROMIS patient-reported measures of HRQOL, functioning, and psychiatric symptom severity at a tertiary IBD clinic. Adult patients (n = 110) completed the PROMIS Global Health scale, PROMIS-29, SF-12, and WHODAS 2.0. Pearson's correlation coefficients (r) determined the relationships between scores to validate the PROMIS Global Health Physical and Mental metrics, compared with the SF-12 and WHODAS 2.0. We compared these measures by disease subtype of Crohn's disease or ulcerative colitis. PROMIS measures were highly correlated (r range = 0.64-0.82) with standard measures of HRQOL and functioning. On the PROMIS Global Health measures, 20.9% had impaired physical health, and 13.7% had impaired mental health. Impairments were reported in pain interference (20% of patients), anxiety (18.2%), satisfaction with social role (15.5%), physical functioning (10.9%), fatigue (10%), depression (7.3%), and sleep disturbance (5.5%). Patients with Crohn's disease had worse scores than those with ulcerative colitis on measures of the global physical health (P = 0.027), physical functioning (P = 0.047), and pain interference (P = 0.0009). PROMIS instruments provide valid assessment of HRQOL and functioning in ambulatory adults with IBD. Of note, patients with Crohn's disease demonstrated significantly worse impairments than those with ulcerative colitis.

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

PubMed

Young, Tim M; Blakely, Emma L; Swalwell, Helen; Carter, Janet E; Kartsounis, Luke D; O'Donovan, Dominic G; Turnbull, Douglass M; Taylor, Robert W; de Silva, Rajith N

2010-11-01

Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare. To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a novel mitochondrial transfer RNA(Phe) (tRNA(Phe)) (MTTF) mutation. Case description and detailed laboratory investigations of a 57-year-old woman at a university teaching hospital and a specialist mitochondrial diagnostic laboratory. Histopathological findings indicated that an underlying mitochondrial abnormality was responsible for the subject's progressive neurological disorder, with mitochondrial genome sequencing revealing a novel m.586G>A MTTF mutation. The clinical phenotypes associated with mitochondrial disorders may include akinesia-rigidity and psychosis. Our findings further broaden the spectrum of neurological disease associated with mitochondrial tRNA(Phe) mutations.

Genetics and child psychiatry: I Advances in quantitative and molecular genetics.

PubMed

Rutter, M; Silberg, J; O'Connor, T; Simonoff, E

1999-01-01

Advances in quantitative psychiatric genetics as a whole are reviewed with respect to conceptual and methodological issues in relation to statistical model fitting, new genetic designs, twin and adoptee studies, definition of the phenotype, pervasiveness of genetic influences, pervasiveness of environmental influences, shared and nonshared environmental effects, and nature-nurture interplay. Advances in molecular genetics are discussed in relation to the shifts in research strategies to investigate multifactorial disorders (affected relative linkage designs, association strategies, and quantitative trait loci studies); new techniques and identified genetic mechanisms (expansion of trinucleotide repeats, genomic imprinting, mitochondrial DNA, fluorescent in-situ hybridisation, behavioural phenotypes, and animal models); and the successful localisation of genes.

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

PubMed

Verhoeven, W M A; de Vries, B B A; Duffels, S J H; Egger, J I M; Noordam, C; Tuinier, S

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS phenotype. Virtually no information is available on the behavioral and psychopathological phenotype in this combination. The latter may be explained by the observation that psychiatric syndromes are especially prevalent in PWS patients with a UPD. It is concluded that instability in mood and behavior in this and other syndromes should be preferentially treated with mood stabilizing agents. Copyright (c) 2007 S. Karger AG, Basel.

Danish translation and validation of Kessler's 10-item psychological distress scale - K10.

PubMed

Thelin, Camilla; Mikkelsen, Benjamin; Laier, Gunnar; Turgut, Louise; Henriksen, Bente; Olsen, Lis Raabaek; Larsen, Jens Knud; Arnfred, Sidse

2017-08-01

Psychological distress is a trans-diagnostic feature of mental suffering closely associated with mental disorders. Kessler's 10-item Psychological Distress Scale (K10), a scale with sound psychometric properties, is widely used in epidemiological studies. To translate and investigate whether K10 is a reliable and valid rating scale for the measurement of psychological distress in a Danish population. The translation was carried out according to official WHO translation guidelines. A sample of 100 subjects was included, 54 patients from the regional Mental Health Service (MHS) and 46 subjects with no psychiatric history. All participants were assessed with a psychiatric diagnostic interview (MINI) and handed out K10. Concurrent validity was assessed by WHO Well-being Index (WHO-5). Correlation matrix analysis was conducted for the full sample and receiver operating characteristic (ROC) curves for discriminating mental health service affiliation. Mean K10 scores differed, with decreasing levels, between inpatients and outpatient in MHS and the subjects with no psychiatric history. Factor analysis confirmed a unidimensional structure, and Cronbach's alpha and Omega showed excellent internal reliability. AUC for the K10 ROC curves showed excellent sensitivity (0.947 [0.900-0.995]), accurately differentiating mental health from non-mental health patients. The Danish K10 has the same strong internal reliability as the original English version, and scores differ between psychiatric patients in outpatient and emergency ward settings. The Danish K10 translation is authorized and freely available for download at https://www.hcp.med.harvard.edu/ncs/k6_scales.php . The utility as an instrument for clinical screening in a mental healthcare setting is supported.

Association between bullying and pediatric psychiatric hospitalizations.

PubMed

Leader, Hadassa; Singh, Jasmine; Ghaffar, Ayesha; de Silva, Cheryl

2018-01-01

Bullying is a serious public health issue. We sought to demonstrate an association between bullying victimization and hospital admissions for acute psychiatric problems. We described the demographics and types of bullying in a sample of hospitalized patients in Staten Island, NY, and compared bullying victimization scores with psychiatric versus medical admissions. Patients in grades 3-12 were recruited from the Staten Island University Hospital Inpatient Pediatrics unit and emergency department. Patients completed the validated Olweus Bully/Victim Questionnaire (OBQ) was analyzed to formulate a report of bullying in our sample as well as a sub-score measurement of bullying victimization. Pediatric residents simultaneously documented whether the subject was a medical versus an in-patient psychiatry admission. Statistical analysis was performed to look for an association between the victimization sub-score and a psychiatric indication for admission. A total of 185 surveys were analyzed. Peak bullying occurred in 7th and 8th grades. Demographics and types of bullying in our sample were described. A strong association between bullying victimization and hospitalization for in-patient psychiatry was demonstrated. Association between bullying victimization and suicidal ideation, psychiatry, and social work consults was also shown. Concern for an association between hospitalization for psychogenic illness and bullying victimization was also raised. There is a significant association between bullying victimization and psychiatric hospital admissions. This raises the specter of the serious consequences of bullying as it is the first study to prospectively link hospital admissions to bullying. Studies using a valid measure of psychogenic illness to look for an association with bullying victimization are needed.

Association between bullying and pediatric psychiatric hospitalizations

PubMed Central

Leader, Hadassa; Singh, Jasmine; Ghaffar, Ayesha; de Silva, Cheryl

2018-01-01

Objectives: Bullying is a serious public health issue. We sought to demonstrate an association between bullying victimization and hospital admissions for acute psychiatric problems. We described the demographics and types of bullying in a sample of hospitalized patients in Staten Island, NY, and compared bullying victimization scores with psychiatric versus medical admissions. Methods: Patients in grades 3–12 were recruited from the Staten Island University Hospital Inpatient Pediatrics unit and emergency department. Patients completed the validated Olweus Bully/Victim Questionnaire (OBQ) was analyzed to formulate a report of bullying in our sample as well as a sub-score measurement of bullying victimization. Pediatric residents simultaneously documented whether the subject was a medical versus an in-patient psychiatry admission. Statistical analysis was performed to look for an association between the victimization sub-score and a psychiatric indication for admission. Results: A total of 185 surveys were analyzed. Peak bullying occurred in 7th and 8th grades. Demographics and types of bullying in our sample were described. A strong association between bullying victimization and hospitalization for in-patient psychiatry was demonstrated. Association between bullying victimization and suicidal ideation, psychiatry, and social work consults was also shown. Concern for an association between hospitalization for psychogenic illness and bullying victimization was also raised. Conclusions: There is a significant association between bullying victimization and psychiatric hospital admissions. This raises the specter of the serious consequences of bullying as it is the first study to prospectively link hospital admissions to bullying. Studies using a valid measure of psychogenic illness to look for an association with bullying victimization are needed. PMID:29326819

Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation.

PubMed

Sarntivijai, Sirarat; Vasant, Drashtti; Jupp, Simon; Saunders, Gary; Bento, A Patrícia; Gonzalez, Daniel; Betts, Joanna; Hasan, Samiul; Koscielny, Gautier; Dunham, Ian; Parkinson, Helen; Malone, James

2016-01-01

The Centre for Therapeutic Target Validation (CTTV - https://www.targetvalidation.org/) was established to generate therapeutic target evidence from genome-scale experiments and analyses. CTTV aims to support the validity of therapeutic targets by integrating existing and newly-generated data. Data integration has been achieved in some resources by mapping metadata such as disease and phenotypes to the Experimental Factor Ontology (EFO). Additionally, the relationship between ontology descriptions of rare and common diseases and their phenotypes can offer insights into shared biological mechanisms and potential drug targets. Ontologies are not ideal for representing the sometimes associated type relationship required. This work addresses two challenges; annotation of diverse big data, and representation of complex, sometimes associated relationships between concepts. Semantic mapping uses a combination of custom scripting, our annotation tool 'Zooma', and expert curation. Disease-phenotype associations were generated using literature mining on Europe PubMed Central abstracts, which were manually verified by experts for validity. Representation of the disease-phenotype association was achieved by the Ontology of Biomedical AssociatioN (OBAN), a generic association representation model. OBAN represents associations between a subject and object i.e., disease and its associated phenotypes and the source of evidence for that association. The indirect disease-to-disease associations are exposed through shared phenotypes. This was applied to the use case of linking rare to common diseases at the CTTV. EFO yields an average of over 80% of mapping coverage in all data sources. A 42% precision is obtained from the manual verification of the text-mined disease-phenotype associations. This results in 1452 and 2810 disease-phenotype pairs for IBD and autoimmune disease and contributes towards 11,338 rare diseases associations (merged with existing published work [Am J Hum Genet 97:111-24, 2015]). An OBAN result file is downloadable at http://sourceforge.net/p/efo/code/HEAD/tree/trunk/src/efoassociations/. Twenty common diseases are linked to 85 rare diseases by shared phenotypes. A generalizable OBAN model for association representation is presented in this study. Here we present solutions to large-scale annotation-ontology mapping in the CTTV knowledge base, a process for disease-phenotype mining, and propose a generic association model, 'OBAN', as a means to integrate disease using shared phenotypes. EFO is released monthly and available for download at http://www.ebi.ac.uk/efo/.

Long-term outcomes of youth who manifested the CBCL-Pediatric Bipolar Disorder phenotype during childhood and/or adolescence.

PubMed

Meyer, Stephanie E; Carlson, Gabrielle A; Youngstrom, Eric; Ronsaville, Donna S; Martinez, Pedro E; Gold, Philip W; Hakak, Rashelle; Radke-Yarrow, Marian

2009-03-01

Recent studies have identified a Child Behavior Checklist (CBCL) profile that characterizes children with severe aggression, inattention, and mood instability. This profile has been coined the CBCL-Pediatric Bipolar Disorder (PBD) phenotype, because it is commonly seen among children with bipolar disorder. However, mounting evidence suggests that the CBCL-PBD may be a better tool for identifying children with severe functional impairment and broad-ranging psychiatric comorbidities rather than bipolar disorder itself. No studies have followed individuals with the CBCL-PBD profile through adulthood, so its long-term implications remain unclear. The present authors examined diagnostic and functional trajectories of individuals with the CBCL-PBD profile from early childhood through young adulthood using data from a longitudinal high-risk study. Participants (n=101) are part of a 23-year study of youth at risk for major mood disorder who have completed diagnostic and functional assessments at regular intervals. Across development, participants with the CBCL-PBD phenotype exhibited marked psychosocial impairment, increased rates of suicidal thoughts and behaviors and heightened risk for comorbid anxiety, bipolar disorder, cluster B personality disorders and ADHD in young adulthood, compared to participants without this presentation. However, diagnostic accuracy for any one particular disorder was found to be low. Children with the CBCL-PBD profile are at risk for ongoing, severe, psychiatric symptomatology including behavior and emotional comorbidities in general, and bipolar disorder, anxiety, ADHD, cluster B personality disorders in particular. However, the value of this profile may be in predicting ongoing comorbidity and impairment, rather than any one specific DSM-IV diagnosis.

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability.

PubMed

Kirby, Jacqueline C; Speltz, Peter; Rasmussen, Luke V; Basford, Melissa; Gottesman, Omri; Peissig, Peggy L; Pacheco, Jennifer A; Tromp, Gerard; Pathak, Jyotishman; Carrell, David S; Ellis, Stephen B; Lingren, Todd; Thompson, Will K; Savova, Guergana; Haines, Jonathan; Roden, Dan M; Harris, Paul A; Denny, Joshua C

2016-11-01

Health care generated data have become an important source for clinical and genomic research. Often, investigators create and iteratively refine phenotype algorithms to achieve high positive predictive values (PPVs) or sensitivity, thereby identifying valid cases and controls. These algorithms achieve the greatest utility when validated and shared by multiple health care systems.Materials and Methods We report the current status and impact of the Phenotype KnowledgeBase (PheKB, http://phekb.org), an online environment supporting the workflow of building, sharing, and validating electronic phenotype algorithms. We analyze the most frequent components used in algorithms and their performance at authoring institutions and secondary implementation sites. As of June 2015, PheKB contained 30 finalized phenotype algorithms and 62 algorithms in development spanning a range of traits and diseases. Phenotypes have had over 3500 unique views in a 6-month period and have been reused by other institutions. International Classification of Disease codes were the most frequently used component, followed by medications and natural language processing. Among algorithms with published performance data, the median PPV was nearly identical when evaluated at the authoring institutions (n = 44; case 96.0%, control 100%) compared to implementation sites (n = 40; case 97.5%, control 100%). These results demonstrate that a broad range of algorithms to mine electronic health record data from different health systems can be developed with high PPV, and algorithms developed at one site are generally transportable to others. By providing a central repository, PheKB enables improved development, transportability, and validity of algorithms for research-grade phenotypes using health care generated data. © The Author 2016. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

PubMed Central

Kirby, Jacqueline C; Speltz, Peter; Rasmussen, Luke V; Basford, Melissa; Gottesman, Omri; Peissig, Peggy L; Pacheco, Jennifer A; Tromp, Gerard; Pathak, Jyotishman; Carrell, David S; Ellis, Stephen B; Lingren, Todd; Thompson, Will K; Savova, Guergana; Haines, Jonathan; Roden, Dan M; Harris, Paul A

2016-01-01

Objective Health care generated data have become an important source for clinical and genomic research. Often, investigators create and iteratively refine phenotype algorithms to achieve high positive predictive values (PPVs) or sensitivity, thereby identifying valid cases and controls. These algorithms achieve the greatest utility when validated and shared by multiple health care systems. Materials and Methods We report the current status and impact of the Phenotype KnowledgeBase (PheKB, http://phekb.org), an online environment supporting the workflow of building, sharing, and validating electronic phenotype algorithms. We analyze the most frequent components used in algorithms and their performance at authoring institutions and secondary implementation sites. Results As of June 2015, PheKB contained 30 finalized phenotype algorithms and 62 algorithms in development spanning a range of traits and diseases. Phenotypes have had over 3500 unique views in a 6-month period and have been reused by other institutions. International Classification of Disease codes were the most frequently used component, followed by medications and natural language processing. Among algorithms with published performance data, the median PPV was nearly identical when evaluated at the authoring institutions (n = 44; case 96.0%, control 100%) compared to implementation sites (n = 40; case 97.5%, control 100%). Discussion These results demonstrate that a broad range of algorithms to mine electronic health record data from different health systems can be developed with high PPV, and algorithms developed at one site are generally transportable to others. Conclusion By providing a central repository, PheKB enables improved development, transportability, and validity of algorithms for research-grade phenotypes using health care generated data. PMID:27026615

Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47,XXX.

PubMed

Harmon, R J; Bender, B G; Linden, M G; Robinson, A

1998-03-01

To investigate the adolescent and early adult adaptation of a group of 47,XXX women as compared with their siblings, addressing developmental differences in adaptation and psychiatric status. Subjects included eleven 47,XXX women and nine female sibling controls. Interviews during adolescence and during early adulthood were semistructured and included a psychiatric evaluation. Four areas of inquiry were (1) relationships with other family members, (2) sense of self-esteem, (3) sexual identity and preference, and (4) responses to life stressors. A DSM-IV psychiatric diagnosis was assigned where appropriate. The Schedule for Affective Disorders and Schizophrenia-Lifetime version was also administered, and assessments of overall functioning and adaptation were completed. The 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure, and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group. However, most of the 47,XXX women were self-sufficient and functioning reasonably well, albeit less well than their siblings. This longitudinal study has clarified that previously reported outcomes of severe psychopathology and antisocial behavior in individuals with sex chromosome anomalies are rare and variability in the behavioral phenotype is much larger than originally appreciated.

Psychopathology and cognition in children with 22q11.2 deletion syndrome

PubMed Central

Niarchou, Maria; Zammit, Stanley; van Goozen, Stephanie H. M.; Thapar, Anita; Tierling, Hayley M.; Owen, Michael J.; van den Bree, Marianne B. M.

2014-01-01

Background Children with 22q11.2 deletion syndrome (22q11.2DS) have been reported to have high rates of cognitive and psychiatric problems. Aims To establish the nature and prevalence of psychiatric disorder and neurocognitive impairment in children with 22q11.2DS and test whether risk of psychopathology is mediated by the children’s intellectual impairment. Method Neurocognition and psychopathology were assessed in 80 children with 22q11.2DS (mean age 10.2 years, s.d. = 2.1) and 39 sibling controls (mean age 10.9 years, s.d. = 2.0). Results More than half (54%) of children with 22q11.2DS met diagnostic criteria for one or more DSM-IV-TR psychiatric disorder. These children had lower IQ (mean 76.8, s.d. = 13.0) than controls (mean 108.6, s.d. = 15.2) (P<0.001) and showed a range of neurocognitive impairments. Increased risk of psychopathology was not mediated by intellectual impairment. Conclusions 22q11.2DS is not related to a specific psychiatric phenotype in children. Moreover, the deletion has largely independent effects on IQ and risk of psychopathology, indicating that psychopathology in 22q11.2DS is not a non-specific consequence of generalised cognitive impairment. PMID:24115343

Psychiatric disorders among people living with HIV/AIDS in IRAN: Prevalence, severity, service utilization and unmet mental health needs.

PubMed

Shadloo, Behrang; Amin-Esmaeili, Masoumeh; Motevalian, Abbas; Mohraz, Minoo; Sedaghat, Abbas; Gouya, Mohammad Mehdi; Rahimi-Movaghar, Afarin

2018-07-01

HIV and psychiatric disorders are closely correlated and are accompanied by some similar risk factors. The aim of this study was to assess psychiatric comorbidity and health service utilization for mental problems among people living with HIV/AIDS in Iran. A total of 250 cases were randomly selected from a large referral center for HIV treatment and care in Tehran, Iran. Psychiatric disorders in the past 12 months including mood, anxiety, and substance use disorders were assessed through face-to-face interview, using a validated Persian translation of the Composite International Diagnostic Interview (CIDI v2.1). Severity of psychiatric disorders, social support, socio-economic status, service utilization and HIV-related indicators were assessed. Participants consisted of 147 men and 103 women. Psychiatric disorders were found in 50.2% (95% confidence interval: 43.8-56.6) of the participants. Major depressive disorder was the most prevalent diagnosis (32.1%), followed by substance use disorders (17.1%). In bivariate analysis, psychiatric disorders were significantly higher among male gender, single and unemployed individuals and those with lower social support. In multivariate regression analysis, only social support was independently associated with psychiatric disorders. Among those with a psychiatric diagnosis, 41.1% had used a health service for mental problems and 53% had received minimally adequate treatment. The findings of the study highlight the importance of mental health services in the treatment of people living with HIV/AIDS. Copyright © 2018 Elsevier Inc. All rights reserved.

Development of a Questionnaire to Assess Nursing Competencies for the Care of People with Psychiatric Disabilities in a Hospital Environment.

PubMed

Feng, Danjun; Li, Hongyao; Meng, Lu; Zhong, Gengkun

2018-02-19

The recovery of people with psychiatric disabilities requires high-quality nursing care. However, the existing research on the nursing competencies needed for caring for people with psychiatric disabilities have been based on a narrow competency framework. By adopting a broader competency framework, this study aimed to find the competencies needed for the nursing care of people with psychiatric disabilities in a hospital environment. Accordingly, a questionnaire will be developed to measure these competences. First, a literature review and interviews with psychiatrists, psychiatric nurses, and people with psychiatric disabilities were conducted to develop the pool of competency items. Second, a pilot study was conducted to review the initial pool of items. Finally, a survey of 581 psychiatric nurses was used to conduct a series of principal component analyses to explore the structure of the questionnaire. The 17-item questionnaire included 5 factors, which accounted for 68.60% of the total variance: sense of responsibility, vocational identification, agreeableness, cooperation capacity, and carefulness; the Cronbach's alpha coefficients were 0.85, 0.85, 0.74, 0.80, and 0.77, respectively. Most of the competencies belonged to attitudes, values, and traits, which were overlooked in previous studies. The questionnaire has satisfactory internal reliability and structural validity, and could contribute some to the selection of the psychiatric workforce.

Early Detection of Apathetic Phenotypes in Huntington's Disease Knock-in Mice Using Open Source Tools.

PubMed

Minnig, Shawn; Bragg, Robert M; Tiwana, Hardeep S; Solem, Wes T; Hovander, William S; Vik, Eva-Mari S; Hamilton, Madeline; Legg, Samuel R W; Shuttleworth, Dominic D; Coffey, Sydney R; Cantle, Jeffrey P; Carroll, Jeffrey B

2018-02-02

Apathy is one of the most prevalent and progressive psychiatric symptoms in Huntington's disease (HD) patients. However, preclinical work in HD mouse models tends to focus on molecular and motor, rather than affective, phenotypes. Measuring behavior in mice often produces noisy data and requires large cohorts to detect phenotypic rescue with appropriate power. The operant equipment necessary for measuring affective phenotypes is typically expensive, proprietary to commercial entities, and bulky which can render adequately sized mouse cohorts as cost-prohibitive. Thus, we describe here a home-built, open-source alternative to commercial hardware that is reliable, scalable, and reproducible. Using off-the-shelf hardware, we adapted and built several of the rodent operant buckets (ROBucket) to test Htt Q111/+ mice for attention deficits in fixed ratio (FR) and progressive ratio (PR) tasks. We find that, despite normal performance in reward attainment in the FR task, Htt Q111/+ mice exhibit reduced PR performance at 9-11 months of age, suggesting motivational deficits. We replicated this in two independent cohorts, demonstrating the reliability and utility of both the apathetic phenotype, and these ROBuckets, for preclinical HD studies.

Further Validation of the Iowa Sleep Disturbances Inventory

ERIC Educational Resources Information Center

Koffel, Erin

2011-01-01

This study examined the reliability and validity of an expanded version of the Iowa Sleep Disturbances Inventory (ISDI; Koffel & Watson, 2010) in 2 samples (219 college students and 200 psychiatric patients). The expanded ISDI includes the scales Sleep Paralysis and Sleep Hallucinations. These scales, along with the Nightmares scale, help define a…

HTR1B as a risk profile maker in psychiatric disorders: a review through motivation and memory.

PubMed

Drago, Antonio; Alboni, Silvia; Brunello, Nicoletta; Nicoletta, Brunello; De Ronchi, Diana; Serretti, Alessandro

2010-01-01

Serotonin receptor 1B (HTR1B) is involved in the regulation of the serotonin system, playing different roles in specific areas of the brain. We review the characteristics of the gene coding for HTR1B, its product and the functional role of HTR1B in the neural networks involved in motivation and memory; the central role played by HTR1B in these functions is thoroughly depicted and show HTR1B to be a candidate modulator of the mnemonic and motivationally related symptoms in psychiatric illnesses. In order to challenge this assessment, we analyze how and how much the genetic variations located in the gene that codes for HTR1B impacts on the psychiatric phenotypes by reviewing the literature on this topic. We gathered partial evidence arising from genetic association studies, which suggests that HTR1B plays a relevant role in substance-related and obsessive compulsive disorders. On the other hand, no solid evidence for other psychiatric disorders was found. This finding is quite striking because of the heavy impairment of motivation and of mnemonic-related functions (for example, recall bias) that characterize major psychiatric disorders. The possible reasons for the contrast between the prime relevance of HTR1B in regulating memory and motivation and the limited evidence brought by genetic association studies in humans are discussed, and some suggestions for possible future directions are provided.

Toward validation of a structural approach to conceptualizing psychopathology: A special section of the Journal of Abnormal Psychology.

PubMed

Krueger, Robert F; Tackett, Jennifer L; MacDonald, Angus

2016-11-01

Traditionally, psychopathology has been conceptualized in terms of polythetic categories derived from committee deliberations and enshrined in authoritative psychiatric nosologies-most notably the Diagnostic and Statistical Manual of Mental Disorders (DSM; American Psychiatric Association [APA], 2013). As the limitations of this form of classification have become evident, empirical data have been increasingly relied upon to investigate the structure of psychopathology. These efforts have borne fruit in terms of an increasingly consistent set of psychopathological constructs closely connected with similar personality constructs. However, the work of validating these constructs using convergent sources of data is an ongoing enterprise. This special section collects several new efforts to use structural approaches to study the validity of this empirically based organizational scheme for psychopathology. Inasmuch as a structural approach reflects the natural organization of psychopathology, it has great potential to facilitate comprehensive organization of information on the correlates of psychopathology, providing evidence for the convergent and discriminant validity of an empirical approach to classification. Here, we highlight several themes that emerge from this burgeoning literature. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Psychosocial correlates of using faith healing services in Riyadh, Saudi Arabia: a comparative cross-sectional study.

PubMed

Alosaimi, Fahad D; Alshehri, Youssef; Alfraih, Ibrahim; Alghamdi, Ayedh; Aldahash, Saleh; Alkhuzayem, Haifa; Al-Beeshi, Haneen

2015-01-01

In this study, we compared the prevalence of psychiatric disorders and the characteristics of those who either use or do not use faith healers (FHs) services. We also assessed the independent factors of study subjects associated with using FHs. This cross-sectional study compared those who use FHs (n = 383) with a control group of those who do not use them (i.e., shopping mall visitors, n = 424) using a survey of sociodemographic characteristics and a validated Arabic version of the Mini International Neuropsychiatric Interview (MINI 6.0). Participants who ranked higher among FH users included males, people who were either married, divorced, or widowed, those with less education, and those with lower income. They were more likely to report past medical and psychiatric history. Those with diagnosable psychiatric disorders were more likely to visit FHs, especially if the diagnosis was of psychotic and bipolar disorders. The prevalence of psychiatric disorders was higher among FH users, and depressive and anxiety disorders were the most prevalent. The study showed that having past psychiatric history and a current psychiatric disorder are risk factors for using FHs. Also, a high percentage of FH users had a diagnosable psychiatric disorder. Further research should assess how to facilitate their access to the mental health system.

Association between Autozygosity and Major Depression: Stratification due to Religious Assortment

PubMed Central

Abdellaoui, Abdel; Hottenga, Jouke-Jan; Xiao, Xiangjun; Scheet, Paul; Ehli, Erik A.; Davies, Gareth E.; Hudziak, James J.; Smit, Dirk J.A.; Bartels, Meike; Willemsen, Gonneke; Brooks, Andrew; Sullivan, Patrick F.; Smit, Johannes H.; de Geus, Eco J.; Penninx, Brenda W.J.H.; Boomsma, Dorret I.

2013-01-01

The effects of inbreeding on the health of offspring can be studied by measuring genome-wide autozygosity as the proportion of the genome in runs of homozygosity (Froh) and relate Froh to outcomes such as psychiatric phenotypes. To successfully conduct these studies, the main patterns of variation for genome-wide autozygosity between and within populations should be well understood and accounted for. Within population variation was investigated in the Dutch population by comparing autozygosity between religious and non-religious groups. The Netherlands have a history of societal segregation and assortment based on religious affiliation, which may have increased parental relatedness within religious groups. Religion has been associated with several psychiatric phenotypes, such as major depressive disorder (MDD). We investigated whether there is an association between autozygosity and MDD, and the extent to which this association can be explained by religious affiliation. All Froh analyses included adjustment for ancestry-informative principal components (PCs) and geographic factors. Religious affiliation was significantly associated with autozygosity, showing that Froh has the ability to capture within population differences that are not captured by ancestry-informative PCs or geographic factors. The non-religious group had significantly lower Froh values and significantly more MDD cases, leading to a nominally significant negative association between autozygosity and depression. After accounting for religious affiliation, MDD was not associated with Froh, indicating that the relation between MDD and inbreeding was due to stratification. This study shows how past religious assortment and recent secularization can have genetic consequences in a relatively small country. This warrants accounting for the historical social context and its effects on genetic variation in association studies on psychiatric and other related traits. PMID:23978897

Psychiatric disorders in child and adolescent offspring of patients with schizophrenia and bipolar disorder: A controlled study.

PubMed

Sanchez-Gistau, Vanessa; Romero, Soledad; Moreno, Dolores; de la Serna, Elena; Baeza, Inmaculada; Sugranyes, Gisela; Moreno, Carmen; Sanchez-Gutierrez, Teresa; Rodriguez-Toscano, Elisa; Castro-Fornieles, Josefina

2015-10-01

Early clinical manifestations predating schizophrenia (SZ) and bipolar disorder (BP) have not been fully characterized. Child offspring studies are a valuable opportunity to study the natural history of the illness from its earliest stages. However, there is limited evidence assessing young offspring of SZ and BP simultaneously. We set out to assess rates of psychiatric disorders in child and adolescent offspring of SZ and BP, relative to offspring of community controls, so as to characterize the early phenotype of the disorders comparatively. SZ and BP parents with offspring aged 7-17years were recruited through adult mental health services of two tertiary hospitals. Community control (CC) parents were recruited from the same geographical area. Ninety BP-offspring, 41 SZ-offspring and 107 CC-offspring were assessed using the K-SADS-PL by child psychiatrists blinded to parental status. Differences in prevalence of psychiatric disorders between groups were adjusted for confounders and for sibling correlation using generalised estimating equations. We found a gradient of clinical severity and social disadvantage between SZ, BP and CC-offspring. After adjusting for socio-demographic confounders, SZ and BP-offspring presented higher rates of attention deficit hyperactivity disorder (ADHD) than CC-offspring. ADHD was more prevalent in SZ-offspring than BP-offspring, and BP-offspring presented a higher prevalence of depression than CC-offspring. The higher rates of ADHD in SZ-offspring suggest that abnormal neurodevelopmental processes may exert a stronger influence in SZ than BP. Follow-up of these children will help elucidate the role of ADHD and depression phenotypes in predicting future transition to SZ or BP. Copyright © 2015 Elsevier B.V. All rights reserved.

The Myth of Optimality in Clinical Neuroscience.

PubMed

Holmes, Avram J; Patrick, Lauren M

2018-03-01

Clear evidence supports a dimensional view of psychiatric illness. Within this framework the expression of disorder-relevant phenotypes is often interpreted as a breakdown or departure from normal brain function. Conversely, health is reified, conceptualized as possessing a single ideal state. We challenge this concept here, arguing that there is no universally optimal profile of brain functioning. The evolutionary forces that shape our species select for a staggering diversity of human behaviors. To support our position we highlight pervasive population-level variability within large-scale functional networks and discrete circuits. We propose that, instead of examining behaviors in isolation, psychiatric illnesses can be best understood through the study of domains of functioning and associated multivariate patterns of variation across distributed brain systems. Copyright © 2018 Elsevier Ltd. All rights reserved.

Case managers' expectations about employment for people with psychiatric disabilities.

PubMed

Abraham, Kristen M; Stein, Catherine H

2009-01-01

The importance of employment in lives of people with psychiatric disabilities is well documented. Yet, the role of case managers in facilitating or inhibiting employment opportunities for consumers is only beginning to be understood. This study examined the psychometric properties of a newly developed self-report measure designed to assess case managers' employment-related expectations of consumers. Psychometric properties of a 24-item self-report measure, Expectations for the Employability of People with Serious Mental Illness (EESMI), were examined using a sample of 107 case managers. EESMI items tap individual and social systems factors related to employment for people with psychiatric disabilities. Construct validity was assessed by relationships between EESMI scores and scores on measures of general expectations and opinions of people with serious mental illness, case manager burnout, and social desirability. EESMI consists of three empirically derived subscales with good internal consistency. Case managers' scores on EESMI correlated positively with scores on general expectations and opinions about people with mental illness scales and were generally unrelated to social desirability scores. EESMI scores were positively related to case managers' perceptions of the employability of consumers on their caseloads. EESMI is a psychometrically sound measure of mental health professionals' employment-related expectations of consumers. Reliable and valid assessment is basic to the study of mental health professionals' role in increasing employment opportunities for people with psychiatric disabilities. Study limitations and directions for future research are discussed.

Teaching neurophysiology, neuropharmacology, and experimental design using animal models of psychiatric and neurological disorders.

PubMed

Morsink, Maarten C; Dukers, Danny F

2009-03-01

Animal models have been widely used for studying the physiology and pharmacology of psychiatric and neurological diseases. The concepts of face, construct, and predictive validity are used as indicators to estimate the extent to which the animal model mimics the disease. Currently, we used these three concepts to design a theoretical assignment to integrate the teaching of neurophysiology, neuropharmacology, and experimental design. For this purpose, seven case studies were developed in which animal models for several psychiatric and neurological diseases were described and in which neuroactive drugs used to treat or study these diseases were introduced. Groups of undergraduate students were assigned to one of these case studies and asked to give a classroom presentation in which 1) the disease and underlying pathophysiology are described, 2) face and construct validity of the animal model are discussed, and 3) a pharmacological experiment with the associated neuroactive drug to assess predictive validity is presented. After evaluation of the presentations, we found that the students had gained considerable insight into disease phenomenology, its underlying neurophysiology, and the mechanism of action of the neuroactive drug. Moreover, the assignment was very useful in the teaching of experimental design, allowing an in-depth discussion of experimental control groups and the prediction of outcomes in these groups if the animal model were to display predictive validity. Finally, the highly positive responses in the student evaluation forms indicated that the assignment was of great interest to the students. Hence, the currently developed case studies constitute a very useful tool for teaching neurophysiology, neuropharmacology, and experimental design.

Reliability and Validity of the Korean Version of the Lifetime Stressor Checklist-Revised in Psychiatric Outpatients with Anxiety or Depressive Disorders.

PubMed

Choi, Kang Rok; Kim, Daeho; Jang, Eun Young; Bae, Hwallip; Kim, Seok Hyeon

2017-01-01

Traumatic events and adverse stressful experiences are major etiological factors in a wide variety of physical and mental disorders. Developing psychological instruments that can be easily administered and that have good psychometric properties have become an integral part for research and practice. This study investigated the reliability and validity of the Korean version of the Lifetime Stressor Checklist-Revised (LSC-R) in a consecutive sample of psychiatric outpatients. The LSC-R is a 30-item self-reporting questionnaire examining lifetime traumatic and non-traumatic stressors. A final sample of 258 outpatients with anxiety or depressive disorders was recruited at the psychiatric department of a university-affiliated teaching hospital. Self-reported data included the Life Events Checklist (LEC), the Zung Self-Rating Depression and Anxiety Scales, and the Impact of Events Scale-Revised, in addition to the LSC-R. A convenience sample of 50 college students completed the LSC-R on two occasions separated by a three week-interval for test-retest reliability. Mean kappa for temporal stability was high (κ=0.651) and Cronbach alpha was moderate (α=0.724). Convergent validity was excellent with corresponding items on the LEC. Concurrent validity was good for symptoms of post-traumatic stress disorder, depression, and anxiety. An exploratory factor analysis revealed that 11 factors explained 64.3 % of the total variance. This study demonstrated good psychometric properties of the Korean version of the LSC-R, further supporting its use in clinical research and practice with a Korean speaking population.

Back to basics: A methodological perspective on marble-burying behavior as a screening test for psychiatric illness.

PubMed

de Brouwer, Geoffrey; Wolmarans, De Wet

2018-04-22

Animal models of human psychiatric illness are valuable frameworks to investigate the etiology and neurobiology underlying the human conditions. Accurate behavioral measures that can be used to characterize animal behavior, thereby contributing to a model's validity, are crucial. One such measure, i.e. the rodent marble-burying test (MBT), is often applied as a measure of anxiety- and compulsive-like behaviors. However, the test is characterized by noteworthy between-laboratory methodological differences and demonstrates positive treatment responses to an array of pharmacotherapies that are often of little translational value. Therefore, using a naturalistic animal model of obsessive-compulsive disorder, i.e. the deer mouse (Peromyscus maniculatus bairdii), the current investigation attempted to illuminate the discrepancies reported in literature by means of a methodological approach to the MBT. Five key aspects of the test that vary between laboratories, viz. observer/scoring, burying substrate, optional avoidance, the use of repeated testing, and determinations of locomotor activity, have been investigated. Following repeated MB tests in four different burying substrates and in two zone configurations, we have demonstrated that 1) observer bias may contribute to the significant differences in findings reported, 2) MB seems to be a natural exploratory response to a novel environment, rather than being triggered by aberrant cognition, 3) burying substrates with a small particle size and higher density deliver the most accurate results with respect to the burying phenotype, and 4) to exclude the influence of normal exploratory behavior on the number of marbles being covered, assessments of marble-burying should be based on pre-occupation with the objects itself. Copyright © 2018 Elsevier B.V. All rights reserved.

A computable phenotype for asthma case identification in adult and pediatric patients: External validation in the Chicago Area Patient-Outcomes Research Network (CAPriCORN).

PubMed

Afshar, Majid; Press, Valerie G; Robison, Rachel G; Kho, Abel N; Bandi, Sindhura; Biswas, Ashvini; Avila, Pedro C; Kumar, Harsha Vardhan Madan; Yu, Byung; Naureckas, Edward T; Nyenhuis, Sharmilee M; Codispoti, Christopher D

2017-10-13

Comprehensive, rapid, and accurate identification of patients with asthma for clinical care and engagement in research efforts is needed. The original development and validation of a computable phenotype for asthma case identification occurred at a single institution in Chicago and demonstrated excellent test characteristics. However, its application in a diverse payer mix, across different health systems and multiple electronic health record vendors, and in both children and adults was not examined. The objective of this study is to externally validate the computable phenotype across diverse Chicago institutions to accurately identify pediatric and adult patients with asthma. A cohort of 900 asthma and control patients was identified from the electronic health record between January 1, 2012 and November 30, 2014. Two physicians at each site independently reviewed the patient chart to annotate cases. The inter-observer reliability between the physician reviewers had a κ-coefficient of 0.95 (95% CI 0.93-0.97). The accuracy, sensitivity, specificity, negative predictive value, and positive predictive value of the computable phenotype were all above 94% in the full cohort. The excellent positive and negative predictive values in this multi-center external validation study establish a useful tool to identify asthma cases in in the electronic health record for research and care. This computable phenotype could be used in large-scale comparative-effectiveness trials.

Portuguese Adaptation and Input for the Validation of the Views on Inpatient Care (VOICE) Outcome Measure to Assess Service Users'Perceptions of Inpatient Psychiatric Care.

PubMed

Palha, João; Palha, Filipa; Dias, Pedro; Gonçalves-Pereira, Manuel

2017-11-29

Patient satisfaction is an important measure of health care quality. Patients' views have seldom been considered in the construction of measures addressing satisfaction with inpatient facilities in psychiatry. The Views on Inpatient Care - VOICE - is a first service-user generated outcome measure relying solely on their perceptions of acute care, representing a valuable indicator of service users' perceived quality of care. The present study aimed to contribute to the validation of the Portuguese version of VOICE. The questionnaire was translated into Portuguese and applied to a sample of eighty-five female inpatients of a psychiatric institution. Data analysis focused on assessing reliability and exploring the impact of demographic and clinical variables on participants' satisfaction. Internal consistency of the questionnaire was high (α = 0.87). Participants' age and marital status were associated with differences in scores, with older patients and patients who were married or involved in a close relationship presenting higher satisfaction levels. The questionnaire demonstrated good internal consistency and acceptability, as well as construct validity. Further studies should expand the analysis of the psychometric properties of this measure e.g., test-retest reliability. The Portuguese version of VOICE is a promising tool to assess service users' perceptions of inpatient psychiatric care in Portugal.

Diagnosing comorbidity in psychiatric hospital: challenging the validity of administrative registers.

PubMed

Oiesvold, Terje; Nivison, Mary; Hansen, Vidje; Skre, Ingunn; Ostensen, Line; Sørgaard, Knut W

2013-01-08

This study will explore the validity of psychiatric diagnoses in administrative registers with special emphasis on comorbid anxiety and substance use disorders. All new patients admitted to psychiatric hospital in northern Norway during one year were asked to participate. Of 477 patients found eligible, 272 gave their informed consent. 250 patients (52%) with hospital diagnoses comprised the study sample. Expert diagnoses were given on the basis of a structured diagnostic interview (M.I.N.I.PLUS) together with retrospective checking of the records. The hospital diagnoses were blind to the expert. The agreement between the expert's and the clinicians' diagnoses was estimated using Cohen's kappa statistics. The expert gave a mean of 3.4 diagnoses per patient, the clinicians gave 1.4. The agreement ranged from poor to good (schizophrenia). For anxiety disorders (F40-41) the agreement is poor (kappa = 0.12). While the expert gave an anxiety disorder diagnosis to 122 patients, the clinicians only gave it to 17. The agreement is fair concerning substance use disorders (F10-19) (kappa = 0.27). Only two out of 76 patients with concurrent anxiety and substance use disorders were identified by the clinicians. The validity of administrative registers in psychiatry seems dubious for research purposes and even for administrative and clinical purposes. The diagnostic process in the clinic should be more structured and treatment guidelines should include comorbidity.

Evaluation of the MMPI-2-RF for Detecting Over-reported Symptoms in a Civil Forensic and Disability Setting.

PubMed

Nguyen, Constance T; Green, Debbie; Barr, William B

2015-01-01

This study investigated the classification accuracy of the Minnesota Multiphasic Personality Inventory-2-Restructured Form validity scales in a sample of disability claimants and civil forensic litigants. A criterion-groups design was used, classifying examinees as "Failed Slick Criteria" through low performance on at least two performance validity indices (stand-alone or embedded) and "Passed Slick Criteria." The stand-alone measures included the Test of Memory Malingering and the Dot Counting Test. The embedded indices were extracted from the Wechsler Adult Intelligence Scales Digit Span and Vocabulary subtests, the California Verbal Learning Test-II, and the Wisconsin Card Sorting Test. Among groups classified by primary complaints at the time of evaluation, those alleging neurological conditions were more frequently classified as Failed Slick Criteria than those alleging psychiatric or medical conditions. Among those with neurological or psychiatric complaints, the F-r, FBS-r, and RBS scales differentiated between those who Passed Slick Criteria from those who Failed Slick Criteria. The Fs scale was also significantly higher in the Failed Slick Criteria compared to Passed Slick Criteria examinees within the psychiatric complaints group. Results indicated that interpretation of scale scores should take into account the examinees' presenting illness. While this study has limitations, it highlights the possibility of different cutoffs depending on the presenting complaints and the need for further studies to cross-validate the results.

Psychiatric diagnostic dilemmas in the medical setting.

PubMed

Strain, James J

2005-09-01

To review the problems posed for doctors by the failure of existing taxonomies to provide a satisfactory method for deriving diagnoses in cases of physical/psychiatric comorbidity, and of relating diagnoses on multiple axes. Review of existing taxonomies and key criticisms. The author was guided in selection by his experience as a member of the working parties involved in the creation of the American Psychiatric Association's DSM-IV. The attempts of the two major taxonomies, the ICD-10 and the American Psychiatric Association's DSM-IV, to address the problem by use of glossaries and multiple axes are described, and found wanting. Novel approaches, including McHugh and Slavey's perspectives of disease, dimensions, behaviour and life story, are described and evaluated. The problem of developing valid and reliable measures of physical/psychiatric comorbidity is addressed, including a discussion of genetic factors, neurobiological variables, target markers and other pathophysiological indicators. Finally, the concept of depression as a systemic illness involving brain, mind and body is raised and the implications of this discussed. Taxonomies require major revision in order to provide a useful basis for communication and research about one of the most frequent presentations in the community, physical/psychiatric comorbidity.

[Kinematic movement analyses and their application in psychiatry].

PubMed

Juckel, Georg; Mergl, Roland; Hegerl, Ulrich

2005-04-01

There is a long tradition to develop valid instruments for the exact assessment of psycho-motor dysfunctions in psychiatry. However, progress is hampered by the complexity of emotionally driven movements in psychiatric patients. Methods used up to now either remains unspecific due to only qualitative measurements or focus on the neurophysiological aspects too much. Thus, the results accomplished so far are only very general unspecific concerning different groups of psychiatric patients. In this paper, two own methods are presented which are aimed to avoid the two poles above mentioned. Kinematic analyses of facial expressions as well as handwriting movements provide quantitative and quite specific informations about psycho-motor dysfunctions of psychiatric patients and the effects of psychotropic substances. Thus, these methods are well suitable for relating them to other neurobiological parameters in order to contribute to the pathophysiological understanding of psycho-motor symptoms in psychiatric patients.

[Shared decision-making and individualized goal setting - a pilot trial using PRISM (Pictorial Representation of Illness and Self Measure) in psychiatric inpatients].

PubMed

Büchi, S; Straub, S; Schwager, U

2010-12-01

Although there is much talk about shared decision making and individualized goal setting, there is a lack of knowledge and knowhow in their realization in daily clinical practice. There is a lack in tools for easy applicable tools to ameliorate person-centred individualized goal setting processes. In three selected psychiatric inpatients the semistructured, theory driven use of PRISM (Pictorial Representation of Illness and Self Measure) in patients with complex psychiatric problems is presented and discussed. PRISM sustains a person-centred individualized process of goal setting and treatment and reinforces the active participation of patients. The process of visualisation and synchronous documentation is validated positively by patients and clinicians. The visual goal setting requires 30 to 45 minutes. In patients with complex psychiatric illness PRISM was used successfully to ameliorate individual goal setting. Specific effects of PRISM-visualisation are actually evaluated in a randomized controlled trial.

[Clinical interview in psychiatric difficult situations].

PubMed

Lorettu, Liliana; Nivoli, Gian Carlo; Milia, Paolo; Depalmas, Cristiano; Clerici, Massimo; Nivoli, Alessandra M A

2017-01-01

There are here described a number of basic principles underlying an effective clinical interview in psychiatric difficult situations (violent or suicidal patients, victims of serious physical and psychological damages, authors of inadequate or anti-social requests to the therapist). The aim of the present study is to provide the psychiatric operator with useful skills for the optimal management of the interview in difficult situations both at diagnostically and therapeutically level. The methodology was based on examination of the literature and personal experience of the authors. The authors highlighted 18 working hypothesis that may represent beneficial instruments in situations of difficult psychiatric interview. Further studies will deepen under the clinical, actuarial and statistical validity the principles covered in various clinical and crisis situations with difficulty to the interview, in relation also to specific types of patients for a more updated training of the operators in the field of mental health.

Identifying Neurobiological Markers of the Broader Autism Phenotype

DTIC Science & Technology

2015-01-01

the BAP. Control participants matched for age, sex and IQ with no history of neurologic, psychiatric or hearing disorders have also been successfully...were then required to imitate the speaker’s emotional expression as accurately as possible. Gender -specific MAV stimuli were presented to each...Participants completed a total of 35 randomized trials, over which five gender -specific MAV stimuli were presented from each of the six emotions and

Conduct disorder in adolescent females: current state of research and study design of the FemNAT-CD consortium.

PubMed

Freitag, Christine M; Konrad, Kerstin; Stadler, Christina; De Brito, Stephane A; Popma, Arne; Herpertz, Sabine C; Herpertz-Dahlmann, Beate; Neumann, Inga; Kieser, Meinhard; Chiocchetti, Andreas G; Schwenck, Christina; Fairchild, Graeme

2018-06-09

Conduct disorder (CD) is a common and highly impairing psychiatric disorder of childhood and adolescence that frequently leads to poor physical and mental health outcomes in adulthood. The prevalence of CD is substantially higher in males than females, and partly due to this, most research on this condition has used all-male or predominantly male samples. Although the number of females exhibiting CD has increased in recent decades, the majority of studies on neurobiological measures, neurocognitive phenotypes, and treatments for CD have focused on male subjects only, despite strong evidence for sex differences in the aetiology and neurobiology of CD. Here, we selectively review the existing literature on CD and related phenotypes in females, focusing in particular on sex differences in CD symptoms, patterns of psychiatric comorbidity, and callous-unemotional personality traits. We also consider studies investigating the neurobiology of CD in females, with a focus on studies using genetic, structural and functional neuroimaging, psychophysiological, and neuroendocrinological methods. We end the article by providing an overview of the study design of the FemNAT-CD consortium, an interdisciplinary, multi-level and multi-site study that explicitly focuses on CD in females, but which is also investigating sex differences in the causes, developmental course, and neurobiological correlates of CD.

COMT-by-Sex Interaction Effect on Psychosis Proneness

PubMed Central

de Castro-Catala, Marta; Barrantes-Vidal, Neus; Sheinbaum, Tamara; Moreno-Fortuny, Artal; Kwapil, Thomas R.; Rosa, Araceli

2015-01-01

Schizotypy phenotypes in the general population share etiopathogenic mechanisms and risk factors with schizophrenia, supporting the notion of psychosis as a continuum ranging from nonclinical to clinical deviance. Catechol-O-methyltransferase (COMT) is a candidate susceptibility gene for schizophrenia that is involved in the regulation of dopamine in the prefrontal cortex. Several recent studies have reported a sex difference in the impact of COMT genotype on psychiatric and cognitive phenotypes and personality traits. The present study investigated the association of COMT Val158Met (rs4680) with psychometric positive and negative schizotypy and psychotic experiences in a sample of 808 nonclinical young adults. The main finding was that sex moderates the association of COMT genotype with the negative dimension of both schizotypy and psychotic experiences. Male subjects carrying the Val allele tended to score higher on the negative dimension of both trait and symptom-like measures. The results from the present study are consistent with recent work suggesting an association between negative schizotypy and diminished prefrontal dopamine availability. They support the idea that a biological differentiation underlies the positive and negative schizotypy dimensions. Additionally, these findings contribute to the growing literature on sex-specific effects of COMT on the predisposition to psychiatric disorders and personality traits. PMID:25722988

Psychometric properties and validation of the Reasons for Living Inventory in an outpatient clinical population in Malaysia.

PubMed

Aishvarya, S; Maniam, T; Karuthan, C; Sidi, Hatta; Ruzyanei, Nik; Oei, T P S

2014-01-01

The Reasons For Living Inventory has been shown to have good psychometric properties in Western populations for the past three decades. The present study examined the psychometric properties and factor structure of English and Malay version of the Reasons For Living (RFL) Inventory in a sample of clinical outpatients in Malaysia. The RFL is designed to assess an individual's various reasons for not committing suicide. A total of 483 participants (283 with psychiatric illnesses and 200 with non-psychiatric medical illnesses) completed the RFL and other self-report instruments. Results of the EFA (exploratory factor analysis) and CFA (confirmatory factor analysis) supported the fit for the six-factor oblique model as the best-fitting model. The internal consistency of the RFL was α=.94 and it was found to be high with good concurrent, criterion and discriminative validities. Thus, the RFL is a reliable and valid instrument to measure the various reasons for not committing suicide among psychiatry and medical outpatients in Malaysia. © 2014.

Velo-Cardio-Facial Syndrome: 30 Years of Study

PubMed Central

Shprintzen, Robert J.

2009-01-01

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than the general population. Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong. PMID:18636631

Prediction of the risk of comorbid alcoholism in schizophrenia by interaction of common genetic variants in the corticotropin-releasing factor system.

PubMed

Ribbe, Katja; Ackermann, Verena; Schwitulla, Judith; Begemann, Martin; Papiol, Sergi; Grube, Sabrina; Sperling, Swetlana; Friedrichs, Heidi; Jahn, Olaf; Sillaber, Inge; Gefeller, Olaf; Krampe, Henning; Ehrenreich, Hannelore

2011-12-01

Stress plays a major role in the development of comorbid alcohol use disorder (AUD). In turn, AUD worsens the outcome of psychiatric patients with respect to global disease severity, social situation, and socioeconomic burden. Prediction of persons at risk for AUD is crucial for future preventive and therapeutic strategies. To investigate whether genetic variants of the corticotropin-releasing factor system or their interaction influence the risk of developing AUD in chronic disease populations. Genotype analysis comprising selected single-nucleotide polymorphisms within the CRHR1 and CRHBP genes in patients with schizophrenia and in a nonschizophrenic psychiatric disease control sample should allow the extraction of predictors of comorbid AUD. Gene expression (messenger RNA) analysis in peripheral blood mononuclear cells was performed to gain the first mechanistic insight. An ideal setup for this study was the Göttingen Research Association for Schizophrenia Data Collection of schizophrenic patients, specifically intended to enable association of genetic information with quantifiable phenotypes in a phenotype-based genetic association study. Patients  A total of 1037 schizophrenic patients (Göttingen Research Association for Schizophrenia sample), 80 nonschizophrenic psychiatric disease controls as a small replicate sample, and a case-control study including 1141 healthy subjects. Association of CRHR1 and CRHBP genotypes with the following: (1) AUD; (2) a newly developed alcoholism severity score comprising 5 AUD-relevant variables; and (3) quantitative CRHR1 and CRHBP messenger RNA expression. An interaction of CRHR1 rs110402 and CRHBP rs3811939 predicts high risk of comorbid AUD in schizophrenic patients (odds ratio = 2.27; 95% confidence interval, 1.56-3.30; P < .001) as well as psychiatric disease controls (odds ratio = 4.02; 95% confidence interval, 0.95-17.05; P = .06) and leads to the highest CRHR1/CRHBP messenger RNA ratio (P = .02; dysbalanced stress axis). The high predictive value of a genetic interaction within the stress axis for the risk of comorbid AUD may be used for novel preventive and individualized therapeutic approaches.

Prevalence Estimation and Validation of New Instruments in Psychiatric Research: An Application of Latent Class Analysis and Sensitivity Analysis

ERIC Educational Resources Information Center

Pence, Brian Wells; Miller, William C.; Gaynes, Bradley N.

2009-01-01

Prevalence and validation studies rely on imperfect reference standard (RS) diagnostic instruments that can bias prevalence and test characteristic estimates. The authors illustrate 2 methods to account for RS misclassification. Latent class analysis (LCA) combines information from multiple imperfect measures of an unmeasurable latent condition to…

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

PubMed Central

Schneider, Maude; Debbané, Martin; Bassett, Anne S.; Chow, Eva W.C.; Fung, Wai Lun Alan; van den Bree, Marianne B.M.; Owen, Michael; Murphy, Kieran C.; Niarchou, Maria; Kates, Wendy R.; Antshel, Kevin M.; Fremont, Wanda; McDonald-McGinn, Donna M.; Gur, Raquel E.; Zackai, Elaine H.; Vorstman, Jacob; Duijff, Sasja N.; Klaassen, Petra W.J.; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R.; Bearden, Carrie E.; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Murphy, Declan G.; Ousley, Opal; Campbell, Linda E.; Simon, Tony J.; Eliez, Stephan

2014-01-01

Objective Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. Method The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. Results Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. Conclusions To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome. PMID:24577245

Validation of Computerized Adaptive Testing in an Outpatient Non-academic Setting: the VOCATIONS Trial

PubMed Central

Achtyes, Eric Daniel; Halstead, Scott; Smart, LeAnn; Moore, Tara; Frank, Ellen; Kupfer, David J.; Gibbons, Robert

2015-01-01

Objective Computerized adaptive tests (CAT) provide an alternative to fixed-length assessments for diagnostic screening and severity measurement of psychiatric disorders. We sought to cross-sectionally validate a suite of computerized adaptive tests for mental health (CAT-MH) in a community psychiatric sample. Methods 145 adult psychiatric outpatients and controls were prospectively evaluated with CAT for depression, mania and anxiety symptoms, compared to gold-standard psychiatric assessments including: Structured Clinical Interview for DSM IV-TR (SCID), Hamilton Rating Scale for Depression (HAM-D25), Patient Health Questionnaire (PHQ-9), Center for Epidemiologic Studies Depression Scale (CES-D), and Global Assessment of Functioning (GAF). Results Sensitivity and specificity for the computerized adaptive diagnostic test for depression (CAD-MDD) were .96 and .64, respectively (.96 and 1.00 for major depression versus controls). CAT for depression severity (CAT-DI) correlated well to standard depression scales HAM-D25 (r=.79), PHQ-9 (r=.90), CES-D (r=.90) and had OR=27.88 for current SCID major depressive disorder diagnosis across its range. CAT for anxiety severity (CAT-ANX) correlated to HAM-D25 (r=.73), PHQ-9 (r=.78), CES-D (r=.81), and had OR=11.52 for current SCID generalized anxiety disorder diagnosis across its range. CAT for mania severity (CAT-MANIA) did not correlate well to HAM-D25 (r=.31), PHQ-9 (r=.37), CES-D (r=.39), but had an OR=11.56 for a current SCID bipolar diagnosis across its range. Participants found the CAT-MH suite of tests acceptable and easy to use, averaging 51.7 items and 9.4 minutes to complete the full battery. Conclusions Compared to current gold-standard diagnostic and assessment measures, CAT-MH provides an effective, rapidly-administered assessment of psychiatric symptoms. PMID:26030317

Blood Sampling and Preparation Procedures for Proteomic Biomarker Studies of Psychiatric Disorders.

PubMed

Guest, Paul C; Rahmoune, Hassan

2017-01-01

A major challenge in proteomic biomarker discovery and validation for psychiatric diseases is the inherent biological complexity underlying these conditions. There are also many technical issues which hinder this process such as the lack of standardization in sampling, processing and storage of bio-samples in preclinical and clinical settings. This chapter describes a reproducible procedure for sampling blood serum and plasma that is specifically designed for maximizing data quality output in two-dimensional gel electrophoresis, multiplex immunoassay and mass spectrometry profiling studies.

The compulsory psychiatric regime in Hong Kong: Constitutional and ethical perspectives.

PubMed

Cheung, Daisy

This article examines the compulsory psychiatric regime in Hong Kong. Under section 36 of the Mental Health Ordinance, which authorises long-term detention of psychiatric patients, a District Judge is required to countersign the form filled out by the registered medical practitioners in order for the detention to be valid. Case law, however, has shown that the role of the District Judge is merely administrative. This article suggests that, as it currently stands, the compulsory psychiatric regime in Hong Kong is unconstitutional because it fails the proportionality test. In light of this conclusion, the author proposes two solutions to deal with the issue, by common law or by legislative reform. The former would see an exercise of discretion by the courts read into section 36, while the latter would involve piecemeal reform of the relevant provisions to give the courts an explicit discretion to consider substantive issues when reviewing compulsory detention applications. The author argues that these solutions would introduce effective judicial supervision into the compulsory psychiatric regime and safeguard against abuse of process. Copyright © 2016 Elsevier Ltd. All rights reserved.

The relationship between quality of life and psychiatric impairment for a Taiwanese community post-earthquake.

PubMed

Choul, F H-C; Chou, P; Lin, C; Su, Tom T-P; Ou-Yang, W-C; Chien, I C; Su, C-Y; Lui, M-K; Chen, M-C

2004-08-01

This purpose of this study was to investigate the relationship between quality of life and psychiatric impairment in a Taiwanese community located near the epicenter of the 1999 earthquake, as assessed four to six months after the natural catastrophe. Trained assistants interviewed the 4223 respondents using the disaster-related psychological screening test (DRPST), an instrument specifically designed and validated by senior psychiatrists for assessment of psychiatric impairment after natural catastrophe. Additionally, the 36-Item Short-Form Health Survey (SF-36) was used to evaluate quality of life. The collected results were analyzed using Windows SPSS 10.0 software. Psychiatric impairment rated moderate to severe was assessed for 1448 (34.3%) of the responding residents. The 4223 respondents were divided into 4 psychiatric-impairment groups based on DPRST score: healthy (n = 952); mild impairment (n = 1823); moderate impairment (n = 1126); and, severe impairment (n = 322). The four groups were compared for a number of salient factors, including gender, age, current marital status and psychiatric-impairment score, to determine impact on quality of life. Respondents assessed as psychiatrically impaired tended to be older, female, divorced/widowed, and less educated, and they were more likely to have experienced major familial financial loss as an immediate consequence of the earthquake. Further, the greater the severity of the psychiatric impairment, the lower the scores for quality of life, for both the physical and mental aspects of this important general indicator.

Detection of malingering: psychometric evaluation of the Chinese version of the structured interview of reported symptoms-2

PubMed Central

2013-01-01

Background Malingering detection has emerged as an important issue in clinical and forensic settings. The Structured Interview of Reported Symptoms-2 (SIRS-2) was designed to assess the feigned symptoms in both clinical and non-clinical subjects. The aim of the study was to examine the reliability and validity of the Chinese version of this scale. Methods Two studies were conducted to evaluate the reliability and validity of the Chinese Version of SIRS-2. In Study one, with a simulation design, the subjects included a. 40 students asked to simulate symptoms of mental illness; b. 40 general psychiatric inpatients and c. 40 students asked to reply to questions honestly. Scales scores for feigning symptoms among three groups were carried out for discriminant validity of the Chinese Version of SIRS-2. Minnesota Multiphasic Personality Inventory-2(MMPI-2) was administered in 80 undergraduate students. In Study two, with a known-groups comparison design, scales scores for feigning symptoms were compared between 20 suspected malingerers and 80 psychiatric outpatients from two forensic centers using the Chinese Version of SIRS-2. Results The Chinese Version of SIRS-2 demonstrated satisfactory internal consistency in both study one and two. In study one, criterion validity of this scale was supported by its significantly positive correlation with the MMPI-2 (r = 0.282 ~ 0.481 for Infrequency), and by its significantly negative correlation with the MMPI-2 (r = -0.255 ~ -0.519 for Lie and -0.205 ~ 0.391 for Correction). Scores of 10 out of 13 subscales of the Chinese Version of SIRS-2 for simulators were significantly higher than scores of honest students and general psychiatric patients. In study two, the mean scores of the Chinese Version of 13 subscales for suspected malingerers were significantly higher than those of psychiatric outpatients. For discriminant validity, it yielded a large effect size (d = 1.80) for the comparison of the participant groups in study one and two. Moreover, the sensitivity (proportion of malingerers accurately identified by the measure) and specificity (proportion of people accurately classified as responding honestly) of the Chinese version of SIRS-2 in the detection of malingering in these two studies are acceptable. Conclusions The Chinese version of the SIRS-2 has good psychometric properties and is a valid and reliable tool for detection of malingering in Chinese populations. PMID:24106829

The Checklist of Unit Behaviours (CUB): Validation within a Canadian outpatient day hospital programme.

PubMed

Taube-Schiff, M; El Morr, C; Counsell, A; Mehak, Adrienne; Gollan, J

2018-05-01

WHAT IS KNOWN ON THE SUBJECT?: The psychometrics of the CUB measure have been tested within an inpatient psychiatric setting. Results show that the CUB has two factors that reflect patients' approach and avoidance of dimensions of the treatment milieu, and that an increase of approach and decrease of avoidance are correlated with discharge. No empirical research has examined the validity of the CUB in a day hospital programme. WHAT THIS ARTICLE ADDS TO EXISTING KNOWLEDGE?: This study was the first to address the validity of this questionnaire within a psychiatric day hospital setting. This now allows other mental health service providers to use this questionnaire following administration of patient engagement interventions (such as behavioural activation), which are routinely used within this type of a setting. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Our results can enable healthcare providers to employ an effective and psychometrically validated tool in a day hospital setting to measure treatment outcomes and provide reflections of patients' approach behaviours and avoidance behaviours. Introduction We evaluated the Checklist of Unit Behaviours (CUBs) questionnaire in a novel mental health setting: a day hospital within a large acute care general hospital. No empirical evidence exists, as of yet, to look at the validity of this measure in this type of a treatment setting. The CUB measures two factors, avoidance or approach, of the patients' engagement with the treatment milieu within the previous 24 hr. Aim A confirmatory factor analysis (CFA) was conducted to validate the CUB's original two factor structure in an outpatient day programme. Methods Psychiatric outpatients (n = 163) completed the CUB daily while participating in a day hospital programme in Toronto, Canada. Results A CFA was used to confirm the CUB factors but resulted in a poor fitting model for our sample, χ 2 (103) = 278.59, p < .001, CFI = 0.80, RMSEA = 0.10, SRMR = 0.10. Questions 5, 8 and 10 had higher loadings on a third factor revealed through exploratory factor analysis. We believe this factor, "Group Engagement," reflects the construct of group-related issues. Discussion The CUB was a practical and useful tool in our psychiatric day hospital setting at a large acute care general hospital. Implications for practice Our analysis identified group engagement, a critical variable in day programmes, as patients have autonomy regarding staying or leaving the programme. © 2017 John Wiley & Sons Ltd.

Telepsychiatric assessment of a mariner expressing suicidal ideation.

PubMed

Lee, Alexander; Sikka, Neal; O'Connell, Francis; Dyer, Allen; Boniface, Keith; Betz, James

2015-01-01

This case report highlights the successful use of telepsychiatric consultation by secure video chat to remotely assess a mariner expressing suicidal ideation. As a result of this intervention, telemedicine providers initiated psychiatric stabilisation while the mariner was still aboard the vessel, determined that he was safe for repatriation under the care of qualified medical escorts, and facilitated admission to a psychiatric facility near his home in the United States. Mental health emergencies are a significant cause of morbidity and mortality among mariners. Telepsychiatry is a validated method of establishing a psychiatric diagnosis and disposition as well as assessing risk of suicidality and the potential for violent decompensation. It has the potential to be a valuable adjunct to any traditional maritime telemedicine service.

[Tinnitus and psychiatric comorbidities].

PubMed

Goebel, G

2015-04-01

Tinnitus is an auditory phantom phenomenon characterized by the sensation of sounds without objectively identifiable sound sources. To date, its causes are not well understood. The perceived severity of tinnitus correlates more closely to psychological and general health factors than to audiometric parameters. Together with limbic structures in the ventral striatum, the prefrontal cortex forms an internal "noise cancelling system", which normally helps to block out unpleasant sounds, including the tinnitus signal. If this pathway is compromised, chronic tinnitus results. Patients with chronic tinnitus show increased functional connectivity in corticolimbic pathways. Psychiatric comorbidities are common in patients who seek help for tinnitus or hyperacusis. Clinicians need valid screening tools in order to identify patients with psychiatric disorders and to tailor treatment in a multidisciplinary setting.

Community psychiatric nurse caseloads and the 'worried well': misspent time vital work?

PubMed

Bowers, L

1997-11-01

Community psychiatric nurses (CPNs) in the United Kingdom are being repeatedly urged to focus their attention upon those with serious and enduring psychotic illnesses, and to withdraw from working with the 'worried well' in the primary health care setting. In view of this pressure, it is important to discover the nature of community psychiatric nurses' non-psychotic caseloads. The aim of this study was to describe these cases, what precipitated their referral, what problems they suffered from, what effects these problems had upon their lives and what kinds of therapeutic interventions they were receiving. A random sample was drawn of non-psychotic CPN patients. The community psychiatric nurses then received a structured interview about the history, care and treatment of these patients. These patients did not, in general, suffer from minor, self-limiting conditions. They typically had had 5 years of contact with psychiatric services, and their psychiatric symptoms blighted their occupational, social and personal lives. Their condition caused significant carer burden, and there was frequently a risk of suicide. The CPNs case-managed a complex combination of interventions for these patients, of which psychotherapeutic methods were only one part. The findings show that community psychiatric nurses have a valid role to play in the care of those with non-psychotic mental disorders, and should continue to receive the opportunity, and appropriate training, to do so.

[Social cognition disorders in Klinefelter syndrome: A specific phenotype? (KS)].

PubMed

Babinet, M-N; Rigard, C; Peyroux, É; Dragomir, A-R; Plotton, I; Lejeune, H; Demily, C

2017-10-01

The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms. Our study aims to characterize of the various components of social cognition in the SK: facial emotional recognition, theory of mind and attributional style. For this two groups (SK group versus control group) of participants (n=16) matched for age and sociocultural level were recruited. Participants with intellectual disabilities, psychiatric or neurological disorders were excluded. Three social cognition tests were available: the TREF, the MASC, the AIHQ. Neurocognitive functions were assessed by the fNart, the subtest "logical memory" of the MEM-III, the subtests of the two VOSP battery, the d2, the TMT and the Stroop test. The SK group had specific social cognition disorders in comparison to the control group. Two emotions in particular were less well recognized: fear and contempt. In addition, the SK group had significantly lower results in theory of mind. Regarding the hostile attribution bias, no significant difference was found. Finally, the results showed correlations between specific attentional disorders and facial emotional recognition. Our study emphasizes social cognition disorders in SK. These disorders could be considered as a phenotypic trait in the syndrome. The interest of better characterizing the cognitive phenotype of genetic disorders that can affect the neurodevelopment is to offer specific cognitive remediation strategies. Copyright © 2016. Published by Elsevier Masson SAS.

Translation: screening for novel therapeutics with disease-relevant cell types derived from human stem cell models.

PubMed

Haggarty, Stephen J; Perlis, Roy H

2014-06-15

The advent of somatic cell reprogramming technologies-which enables the generation of patient-specific, induced pluripotent stem cell and other trans-differentiated human neuronal cell models-provides new means of gaining insight into the molecular mechanisms and neural substrates of psychiatric disorders. By allowing a more precise understanding of genotype-phenotype relationship in disease-relevant human cell types, the use of reprogramming technologies in tandem with emerging genome engineering approaches provides a previously "missing link" between basic research and translational efforts. In this review, we summarize advances in applying human pluripotent stem cell and reprogramming technologies to generate specific neural subtypes with a focus on the use of these in vitro systems for the discovery of small molecule-probes and novel therapeutics. Examples are given where human cell models of psychiatric disorders have begun to reveal new mechanistic insight into pathophysiology and simultaneously have provided the foundation for developing disease-relevant, phenotypic assays suitable for both functional genomic and chemical screens. A number of areas for future research are discussed, including the need to develop robust methodology for the reproducible, large-scale production of disease-relevant neural cell types in formats compatible with high-throughput screening modalities, including high-content imaging, multidimensional, signature-based screening, and in vitro network with multielectrode arrays. Limitations, including the challenges in recapitulating neurocircuits and non-cell autonomous phenotypes are discussed. Although these technologies are still in active development, we conclude that, as our understanding of how to efficiently generate and probe the plasticity of patient-specific stem models improves, their utility is likely to advance rapidly. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Computational Phenotyping in Psychiatry: A Worked Example

PubMed Central

2016-01-01

Abstract Computational psychiatry is a rapidly emerging field that uses model-based quantities to infer the behavioral and neuronal abnormalities that underlie psychopathology. If successful, this approach promises key insights into (pathological) brain function as well as a more mechanistic and quantitative approach to psychiatric nosology—structuring therapeutic interventions and predicting response and relapse. The basic procedure in computational psychiatry is to build a computational model that formalizes a behavioral or neuronal process. Measured behavioral (or neuronal) responses are then used to infer the model parameters of a single subject or a group of subjects. Here, we provide an illustrative overview over this process, starting from the modeling of choice behavior in a specific task, simulating data, and then inverting that model to estimate group effects. Finally, we illustrate cross-validation to assess whether between-subject variables (e.g., diagnosis) can be recovered successfully. Our worked example uses a simple two-step maze task and a model of choice behavior based on (active) inference and Markov decision processes. The procedural steps and routines we illustrate are not restricted to a specific field of research or particular computational model but can, in principle, be applied in many domains of computational psychiatry. PMID:27517087

Computational Phenotyping in Psychiatry: A Worked Example.

PubMed

Schwartenbeck, Philipp; Friston, Karl

2016-01-01

Computational psychiatry is a rapidly emerging field that uses model-based quantities to infer the behavioral and neuronal abnormalities that underlie psychopathology. If successful, this approach promises key insights into (pathological) brain function as well as a more mechanistic and quantitative approach to psychiatric nosology-structuring therapeutic interventions and predicting response and relapse. The basic procedure in computational psychiatry is to build a computational model that formalizes a behavioral or neuronal process. Measured behavioral (or neuronal) responses are then used to infer the model parameters of a single subject or a group of subjects. Here, we provide an illustrative overview over this process, starting from the modeling of choice behavior in a specific task, simulating data, and then inverting that model to estimate group effects. Finally, we illustrate cross-validation to assess whether between-subject variables (e.g., diagnosis) can be recovered successfully. Our worked example uses a simple two-step maze task and a model of choice behavior based on (active) inference and Markov decision processes. The procedural steps and routines we illustrate are not restricted to a specific field of research or particular computational model but can, in principle, be applied in many domains of computational psychiatry.

The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population.

PubMed

Procyshyn, Tanya L; Spence, Jason; Read, Silven; Watson, Neil V; Crespi, Bernard J

2017-04-01

The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I ( general transcription factor II-I ), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity. Participants' salivary oxytocin levels were measured before and after watching a validated empathy-inducing video. Oxytocin reactivity, defined as pre- to post-video percentage change in salivary oxytocin, varied substantially and significantly between individuals with different GTF2I genotypes, with, additionally, a trend towards an interaction between genotype and sex. Individuals with more oxytocin-reactive genotypes also reported significantly lower social anxiety. These findings suggest a model whereby GTF2I has a continuum of effects on human sociality, from the extreme social phenotypes and oxytocin dysregulation associated with gene deletion in Williams syndrome, to individual differences in oxytocin reactivity and sociality associated with common polymorphisms in healthy populations. © 2017 The Author(s).

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

PubMed

Gandal, Michael J; Haney, Jillian R; Parikshak, Neelroop N; Leppa, Virpi; Ramaswami, Gokul; Hartl, Chris; Schork, Andrew J; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas M; Liu, Chunyu; White, Kevin P; Horvath, Steve; Geschwind, Daniel H

2018-02-09

The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. We identified patterns of shared and distinct gene-expression perturbations across these conditions. The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism-based) overlap across disorders, suggesting a substantial causal genetic component. This comprehensive systems-level view of the neurobiological architecture of major neuropsychiatric illness demonstrates pathways of molecular convergence and specificity. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Predictive Validity of the HKT-R Risk Assessment Tool: Two and 5-Year Violent Recidivism in a Nationwide Sample of Dutch Forensic Psychiatric Patients.

PubMed

Bogaerts, Stefan; Spreen, Marinus; Ter Horst, Paul; Gerlsma, Coby

2018-06-01

This study has examined the predictive validity of the Historical Clinical Future [ Historisch Klinisch Toekomst] Revised risk assessment scheme in a cohort of 347 forensic psychiatric patients, which were discharged between 2004 and 2008 from any of 12 highly secure forensic centers in the Netherlands. Predictive validity was measured 2 and 5 years after release. Official reconviction data obtained from the Dutch Ministry of Security and Justice were used as outcome measures. Violent reoffending within 2 and 5 years after discharge was assessed. With regard to violent reoffending, results indicated that the predictive validity of the Historical domain was modest for 2 (area under the curve [AUC] = .75) and 5 (AUC = .74) years. The predictive validity of the Clinical domain was marginal for 2 (admission: AUC = .62; discharge: AUC = .63) and 5 (admission: AUC = .69; discharge: AUC = .62) years after release. The predictive validity of the Future domain was modest (AUC = .71) for 2 years and low for 5 (AUC = .58) years. The total score of the instrument was modest for 2 years (AUC = .78) and marginal for 5 (AUC = .68) years. Finally, the Final Risk Judgment was modest for 2 years (AUC = .78) and marginal for 5 (AUC = .63) years time at risk. It is concluded that this risk assessment instrument appears to be a satisfactory instrument for risk assessment.

Development of the Observation Scale for Aggressive Behavior (OSAB) for Dutch forensic psychiatric inpatients with an antisocial personality disorder.

PubMed

Hornsveld, Ruud H J; Nijman, Henk L I; Hollin, Clive R; Kraaimaat, Floor W

2007-01-01

The Observation Scale for Aggressive Behavior (OSAB) has been developed to evaluate inpatient treatment programs designed to reduce aggressive behavior in Dutch forensic psychiatric patients with an antisocial personality disorder, who are "placed at the disposal of the government". The scale should have the sensitivity to measure changes in the possible determinants of aggressive behavior, such as limited control of displayed negative emotions (irritation, anger or rage) and a general deficiency of social skills. In developing the OSAB 40 items were selected from a pool of 82 and distributed among the following a priori scales: Irritation/anger, Anxiety/gloominess, Aggressive behavior, Antecedent (to aggressive behavior), Sanction (for aggressive behavior) and Social behavior. The internal consistency of these subscales was good, the inter-rater reliability was moderate to good, and the test-retest reliability over a two to three week period was moderate to good. The correlation between the subscales Irritation/anger, Anxiety/gloominess, Aggressive behavior, Antecedent, Sanction was substantial and significant, but the anticipated negative correlation between these subscales and the Social behavior subscale could not be shown. Relationships between the corresponding subscales of the OSAB and the FIOS, used to calculate concurrent validity, yielded relatively high correlations. The validity of the various OSAB subscales could be further supported by significant correlations with the PCL-R and by significant but weak correlations with corresponding subscales of the self-report questionnaires. The Observation Scale for Aggressive Behavior (OSAB) seems to measure aggressive behavior in Dutch forensic psychiatric inpatients with an antisocial personality disorder reliably and validly. Contrary to expectations, a negative relationship was not found between aggressive and social behavior in either the OSAB or FIOS, which were used for calculating concurrent validity.

Translational studies of goal-directed action as a framework for classifying deficits across psychiatric disorders

PubMed Central

Griffiths, Kristi R.; Morris, Richard W.; Balleine, Bernard W.

2014-01-01

The ability to learn contingencies between actions and outcomes in a dynamic environment is critical for flexible, adaptive behavior. Goal-directed actions adapt to changes in action-outcome contingencies as well as to changes in the reward-value of the outcome. When networks involved in reward processing and contingency learning are maladaptive, this fundamental ability can be lost, with detrimental consequences for decision-making. Impaired decision-making is a core feature in a number of psychiatric disorders, ranging from depression to schizophrenia. The argument can be developed, therefore, that seemingly disparate symptoms across psychiatric disorders can be explained by dysfunction within common decision-making circuitry. From this perspective, gaining a better understanding of the neural processes involved in goal-directed action, will allow a comparison of deficits observed across traditional diagnostic boundaries within a unified theoretical framework. This review describes the key processes and neural circuits involved in goal-directed decision-making using evidence from animal studies and human neuroimaging. Select studies are discussed to outline what we currently know about causal judgments regarding actions and their consequences, action-related reward evaluation, and, most importantly, how these processes are integrated in goal-directed learning and performance. Finally, we look at how adaptive decision-making is impaired across a range of psychiatric disorders and how deepening our understanding of this circuitry may offer insights into phenotypes and more targeted interventions. PMID:24904322

Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex

PubMed Central

Bouamrane, Lamine; Scheyer, Andrew F.; Lassalle, Olivier; Iafrati, Jillian; Thomazeau, Aurore; Chavis, Pascale

2017-01-01

The reelin gene is a strong candidate in the etiology of several psychiatric disorders such as schizophrenia, major depression, bipolar disorders, and autism spectrum disorders. Most of these diseases are accompanied by cognitive and executive-function deficits associated with prefrontal dysfunctions. Mammalian prefrontal cortex (PFC) development is characterized by a protracted postnatal maturation constituting a period of enhanced vulnerability to psychiatric insults. The identification of the molecular components underlying this prolonged postnatal development is necessary to understand the synaptic properties of defective circuits participating in these psychiatric disorders. We have recently shown that reelin plays a key role in the maturation of glutamatergic functions in the postnatal PFC, but no data are available regarding the GABAergic circuits. Here, we undertook a cross-sectional analysis of GABAergic function in deep layer pyramidal neurons of the medial PFC of wild-type and haploinsufficient heterozygous reeler mice. Using electrophysiological approaches, we showed that decreased reelin levels impair the maturation of GABAergic synaptic transmission without affecting the inhibitory nature of GABA. This phenotype consequently impacted the developmental sequence of the synaptic excitation/inhibition (E/I) balance. These data indicate that reelin is necessary for the correct maturation and refinement of GABAergic synaptic circuits in the postnatal PFC and therefore provide a mechanism for altered E/I balance of prefrontal circuits associated with psychiatric disorders. PMID:28127276

Recall and dating of psychiatric symptoms. Test-retest reliability of time-related symptom questions in a standardized psychiatric interview.

PubMed

Wittchen, H U; Burke, J D; Semler, G; Pfister, H; Von Cranach, M; Zaudig, M

1989-05-01

The advent of more explicit diagnostic criteria and the growing interest in "lifetime" rates of mental disorders has made imperative an accurate determination of time-related diagnostic criteria. We used data from two independent test-retest studies of the Diagnostic Interview Schedule (DIS) and the Composite International Diagnostic Interview (CIDI) to study the reliability of different time-related questions in these fully standardized diagnostic interviews. With two exceptions (anxiety disorders and alcohol-related questions), the test-retest reliability of most time-related questions in both interviews was judged to be satisfactorily high. Furthermore, the validity of time-related questions in the DIS (age at symptom onset, duration and frequency of illness episodes) was examined by comparing them with detailed "consensus" ratings done independently by different clinicians for 207 former psychiatric inpatients. A surprisingly high concordance was found for former psychotic patients except for those still severely disturbed at the follow-up investigation. Some severe restrictions were also found for nonpsychotic disorders with regard to judgment of the age at onset of phobias, panic attacks, and depression. For a more valid assessment of time-related symptom information, the use of specific memory aids is suggested.

A Cross-Validation of the Keane and Penk MMPI Scales as Measures of Post-Traumatic Stress Disorder.

ERIC Educational Resources Information Center

Watson, Charles G.; And Others

1986-01-01

Compared scores of post-traumatic stress disorder (PTSD) patients, psychiatric patients who did not meet PTSD criteria, and normals on the Keane et al PTSD scale and Penk Combat Scales for the Minnesota Multiphasic Personality Inventory. Results confirmed the validities of the PTSO scale and, to a lesser degree, Penk Combat Intensity Scales as…

The Clinical Interview Schedule-Revised (CIS-R)-Malay Version, Clinical Validation.

PubMed

Subramaniam, Kavitha; Krishnaswamy, Saroja; Jemain, Abdul Aziz; Hamid, Abdul; Patel, Vikram

2006-01-01

Use of instruments or questionnaires in different cultural settings without proper validation can result in inaccurate results. Issues like reliability, validity, feasibility and acceptability should be considered in the use of an instrument. The study aims to determine the usefulness of the CIS-R Malay version in detecting common mental health problems specifically to establish the validity. The CIS-R instrument (PROQSY* format) was translated through the back translation process into Malay. Inter rater reliability was established for raters who were medical students. Cases and controls for the study were psychiatric in patients, out patient and relatives or friends accompanying the patients to the clinic or visiting the inpatients. The Malay version of CIS-R was administered to all cases and controls. All cases and controls involved in the study were rated by psychiatrists for psychiatric morbidity using the SCID as a guideline. Specificity and sensitivity of the CIS-R to the assessment by the psychiatrist were determined. The Malay version of CIS-R showed 100% sensitivity and 96.15% specificity at a cut off score of 9. The CIS-R can be a useful instrument for clinical and research use in the Malaysian population for diagnosing common mental disorders like depression and anxiety.

The psychiatric interview: validity, structure, and subjectivity.

PubMed

Nordgaard, Julie; Sass, Louis A; Parnas, Josef

2013-06-01

There is a glaring gap in the psychiatric literature concerning the nature of psychiatric symptoms and signs, and a corresponding lack of epistemological discussion of psycho-diagnostic interviewing. Contemporary clinical neuroscience heavily relies on the use of fully structured interviews that are historically rooted in logical positivism and behaviorism. These theoretical approaches marked decisively the so-called "operational revolution in psychiatry" leading to the creation of DSM-III. This paper attempts to examine the theoretical assumptions that underlie the use of a fully structured psychiatric interview. We address the ontological status of pathological experience, the notions of symptom, sign, prototype and Gestalt, and the necessary second-person processes which are involved in converting the patient's experience (originally lived in the first-person perspective) into an "objective" (third person), actionable format, used for classification, treatment, and research. Our central thesis is that psychiatry targets the phenomena of consciousness, which, unlike somatic symptoms and signs, cannot be grasped on the analogy with material thing-like objects. We claim that in order to perform faithful distinctions in this particular domain, we need a more adequate approach, that is, an approach that is guided by phenomenologically informed considerations. Our theoretical discussion draws upon clinical examples derived from structured and semi-structured interviews. We conclude that fully structured interview is neither theoretically adequate nor practically valid in obtaining psycho-diagnostic information. Failure to address these basic issues may have contributed to the current state of malaise in the study of psychopathology.

The Psychometric Parameters of the Farsi Form of the Arabic Scale of Death Anxiety

PubMed Central

Abdel-Khalek, Ahmed M.; Lester, David

2017-01-01

The aim of this study was to describe the psychometric properties of the Farsi Form of the Arabic Scale of Death Anxiety (ASDA). The original scale was first translated into Farsi by language experts using the back translation procedure and then administered to a total of 252 Iranian college students and 52 psychiatric outpatients from psychiatric and psychological clinics. The one-week test-retest reliability of the Farsi version in a sample of college students was 0.78, indicating good temporal stability and corroborating the trait-like nature of scores. Cronbach's α was 0.90 for the college students and 0.92 for the psychiatric outpatients, indicating high internal consistency. Scale scores correlated 0.46 with Death Obsession Scale scores, 0.56 with Death Depression Scale scores, 0.41 with Death Anxiety Scale scores, and 0.40 with Wish to be Dead Scale scores, indicating good construct and criterion-related validity. A principal component analysis with a Varimax rotation yielded four factors in the sample of Iranian college students, indicating a lack of homogeneity in the content of the scale. Male students obtained a significant higher mean score than did females. It was concluded that the Farsi ASDA had good internal consistency, temporal stability, criterion-related validity, and a factor structure reflecting important features of death anxiety. In general, the Farsi ASDA could be recommended for use in research on death anxiety among Iranian college students and psychiatric outpatients. PMID:28698887

The Psychometric Parameters of the Farsi Form of the Arabic Scale of Death Anxiety.

PubMed

Dadfar, Mahboubeh; Abdel-Khalek, Ahmed M; Lester, David; Atef Vahid, Mohammad Kazem

2017-01-01

The aim of this study was to describe the psychometric properties of the Farsi Form of the Arabic Scale of Death Anxiety (ASDA). The original scale was first translated into Farsi by language experts using the back translation procedure and then administered to a total of 252 Iranian college students and 52 psychiatric outpatients from psychiatric and psychological clinics. The one-week test-retest reliability of the Farsi version in a sample of college students was 0.78, indicating good temporal stability and corroborating the trait-like nature of scores. Cronbach's α was 0.90 for the college students and 0.92 for the psychiatric outpatients, indicating high internal consistency. Scale scores correlated 0.46 with Death Obsession Scale scores, 0.56 with Death Depression Scale scores, 0.41 with Death Anxiety Scale scores, and 0.40 with Wish to be Dead Scale scores, indicating good construct and criterion-related validity. A principal component analysis with a Varimax rotation yielded four factors in the sample of Iranian college students, indicating a lack of homogeneity in the content of the scale. Male students obtained a significant higher mean score than did females. It was concluded that the Farsi ASDA had good internal consistency, temporal stability, criterion-related validity, and a factor structure reflecting important features of death anxiety. In general, the Farsi ASDA could be recommended for use in research on death anxiety among Iranian college students and psychiatric outpatients.

Peripheral biomarkers revisited: integrative profiling of peripheral samples for psychiatric research.

PubMed

Hayashi-Takagi, Akiko; Vawter, Marquis P; Iwamoto, Kazuya

2014-06-15

Peripheral samples, such as blood and skin, have been used for decades in psychiatric research as surrogates for central nervous system samples. Although the validity of the data obtained from peripheral samples has been questioned and other state-of-the-art techniques, such as human brain imaging, genomics, and induced pluripotent stem cells, seem to reduce the value of peripheral cells, accumulating evidence has suggested that revisiting peripheral samples is worthwhile. Here, we re-evaluate the utility of peripheral samples and argue that establishing an understanding of the common signaling and biological processes in the brain and peripheral samples is required for the validity of such models. First, we present an overview of the available types of peripheral cells and describe their advantages and disadvantages. We then briefly summarize the main achievements of omics studies, including epigenome, transcriptome, proteome, and metabolome analyses, as well as the main findings of functional cellular assays, the results of which imply that alterations in neurotransmission, metabolism, the cell cycle, and the immune system may be partially responsible for the pathophysiology of major psychiatric disorders such as schizophrenia. Finally, we discuss the future utility of peripheral samples for the development of biomarkers and tailor-made therapies, such as multimodal assays that are used as a battery of disease and trait pathways and that might be potent and complimentary tools for use in psychiatric research. © 2013 Society of Biological Psychiatry Published by Society of Biological Psychiatry All rights reserved.

Psychometric properties of the Alcohol Use Disorders Identification Test (AUDIT) and prevalence of alcohol use among Iranian psychiatric outpatients.

PubMed

Noorbakhsh, Simasadat; Shams, Jamal; Faghihimohamadi, Mohamadmahdi; Zahiroddin, Hanieh; Hallgren, Mats; Kallmen, Hakan

2018-01-30

Iran is a developing and Islamic country where the consumption of alcoholic beverages is banned. However, psychiatric disorders and alcohol use disorders are often co-occurring. We used the Alcohol Use Disorders Identification Test (AUDIT) to estimate the prevalence of alcohol use and examined the psychometric properties of the test among psychiatric outpatients in Teheran, Iran. AUDIT was completed by 846 consecutive (sequential) patients. Descriptive statistics, internal consistency (Cronbach alpha), confirmatory and exploratory factor analyses were used to analyze the prevalence of alcohol use, reliability and construct validity. 12% of men and 1% of women were hazardous alcohol consumers. Internal reliability of the Iranian version of AUDIT was excellent. Confirmatory factor analyses showed that the construct validity and the fit of previous factor structures (1, 2 and 3 factors) to data were not good and seemingly contradicted results from the explorative principal axis factoring, which showed that a 1-factor solution explained 77% of the co-variances. We could not reproduce the suggested factor structure of AUDIT, probably due to the skewed distribution of alcohol consumption. Only 19% of men and 3% of women scored above 0 on AUDIT. This could be explained by the fact that alcohol is illegal in Iran. In conclusion the AUDIT exhibited good internal reliability when used as a single scale. The prevalence estimates according to AUDIT were somewhat higher among psychiatric patients compared to what was reported by WHO regarding the general population.

Cortical GABA markers identify a molecular subtype of psychotic and bipolar disorders.

PubMed

Volk, D W; Sampson, A R; Zhang, Y; Edelson, J R; Lewis, D A

2016-09-01

Deficits in gamma aminobutyric acid (GABA) neuron-related markers, including the GABA-synthesizing enzyme GAD67, the calcium-binding protein parvalbumin, the neuropeptide somatostatin, and the transcription factor Lhx6, are most pronounced in a subset of schizophrenia subjects identified as having a 'low GABA marker' (LGM) molecular phenotype. Furthermore, schizophrenia shares degrees of genetic liability, clinical features and cortical circuitry abnormalities with schizoaffective disorder and bipolar disorder. Therefore, we determined the extent to which a similar LGM molecular phenotype may also exist in subjects with these disorders. Transcript levels for GAD67, parvalbumin, somatostatin, and Lhx6 were quantified using quantitative PCR in prefrontal cortex area 9 of 184 subjects with a diagnosis of schizophrenia (n = 39), schizoaffective disorder (n = 23) or bipolar disorder (n = 35), or with a confirmed absence of any psychiatric diagnoses (n = 87). A blinded clustering approach was employed to determine the presence of a LGM molecular phenotype across all subjects. Approximately 49% of the subjects with schizophrenia, 48% of the subjects with schizoaffective disorder, and 29% of the subjects with bipolar disorder, but only 5% of unaffected subjects, clustered in the cortical LGM molecular phenotype. These findings support the characterization of psychotic and bipolar disorders by cortical molecular phenotype which may help elucidate more pathophysiologically informed and personalized medications.

Demographic and clinical characteristics of current comorbid psychiatric disorders in a randomized clinical trial for adults with stimulant use disorders

PubMed Central

Warden, Diane; Sanchez, Katherine; Greer, Tracy; Carmody, Thomas; Walker, Robrina; Cruz, Adriane dela; Toups, Marisa; Rethorst, Chad; Trivedi, Madhukar H.

2017-01-01

This study aimed to determine if current comorbid psychiatric disorders differ in adults with cocaine use disorder, other stimulant (primarily methamphetamine) use disorder, or both, and identify demographic and clinical characteristics in those with increasing numbers of comorbid disorders. Baseline data from a randomized controlled trial beginning in residential settings (N=302) was used. Mood disorders were present in 33.6%, and anxiety disorders in 29.6%, with no differences among stimulant use disorder groups. Panic disorder was more frequently present with other stimulant use disorder. Those with two or more comorbid psychiatric disorders were more often female, White, had more symptoms of depression, greater propensity and risk for suicidal behavior, lower functioning in psychiatric and family domains, lower quality of life, more symptoms with stimulant abstinence and greater likelihood of marijuana dependence. Those with one or more comorbid disorders had more medical disorder burden, lower cognitive and physical functioning, greater pain, and higher rates of other drug dependence. With current comorbid psychiatric disorders, the morbidity of stimulant use disorders increases. Use of validated assessments near treatment entry, and a treatment plan targeting not only substance use and comorbid psychiatric disorders, but functional impairments, medical disorder burden and pain, may be useful. PMID:27693866

From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

PubMed

Koutsis, Georgios; Panas, Marios; Paraskevas, George P; Bougea, Anastasia M; Kladi, Athina; Karadima, Georgia; Kapaki, Elisabeth

2014-01-01

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

PubMed Central

Panas, Marios; Paraskevas, George P.; Bougea, Anastasia M.; Karadima, Georgia; Kapaki, Elisabeth

2014-01-01

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family. PMID:25349749

Pheno-phenotypes: a holistic approach to the psychopathology of schizophrenia.

PubMed

Stanghellini, Giovanni; Rossi, Rodolfo

2014-05-01

Mental disorders are mainly characterized via symptom assessment. Symptoms are state-like macroscopic anomalies of behaviour, experience, and expression that are deemed relevant for diagnostic purposes. An alternative approach is based on the concept of endophenotypes, which are physiological or behavioural measures occupying the terrain between symptoms and risk genotypes. We will critically discuss these two approaches, and later focus on the concept of pheno-phenotype as it is revealed by recent phenomenological research on schizophrenia. Several studies have been recently published on the schizophrenic pheno-phenotype mainly addressing self-disorders, as well as disorders of time and bodily experience. The mainstream approach to psychopathological phenotypes is focussed on easy-to-assess operationalizable symptoms. Thinness of phenotypes and simplification of clinical constructs are the consequences of this. Also, this approach has not been successful in investigating the biological causes of mental disorders. An integrative approach is based on the concept of 'endophenotype'. Endophenotypes were conceptualized as a supportive tool for the genetic dissection of psychiatric disorders. The underlying rationale states that disease-specific phenotypes should be the upstream phenotypic manifestation of a smaller genotype than the whole disease-related genotype. Psychopathological phenotypes can also be characterized in terms of pheno-phenotypes. This approach aims at delineating the manifold phenomena experienced by patients in all of their concrete and distinctive features, so that the features of a pathological condition emerge, while preserving their peculiar feel, meaning, and value for the patient. Systematic explorations of anomalies in the patients' experience, for example, of time, space, body, self, and otherness, may provide a useful integration to the symptom-based and endophenotype-based approaches. These abnormal phenomena can be used as pointers to the fundamental alterations of the structure of subjectivity characterizing each mental disorder.

Influence of psychiatric diagnosis on treatment uptake and interferon side effects in patients with hepatitis C.

PubMed

Wu, Jing Yuan J; Shadbolt, Bruce; Teoh, Narci; Blunn, Anne; To, Caroline; Rodriguez-Morales, Ilys; Chitturi, Shivakumar; Kaye, Graham; Rodrigo, Kalyana; Farrell, Geoff

2014-06-01

Pegylated-interferon-α/ribavirin (PEG-IFN/RBV) treatment can cure hepatitis C virus (HCV) infection but has frequent neuropsychiatric side-effects. Patients with pre-existing psychiatric illness may not be offered therapy. We established prevalence of self-reported psychiatric comorbidity among HCV-infected patients in a hospital-liver clinic, and determined the impact of such diagnoses on uptake and tolerance to PEG-IFN/RBV. All HCV cases referred for assessment in Australian Capital Territory/surrounding regions April 2004-March 2012 were entered into a clinical database. We conducted univariate and multivariate analyses of variables correlating with uptake of antiviral therapy and frequency of treatment-related side-effects. Of 773 referred patients, 235 (30%) described pre-existing psychiatric illness. Among these, 26% received antiviral therapy, compared with 30% of 538 without psychiatric comorbidity. History of depression (usually validated by liaison psychiatry) was associated with higher incidence of treatment-related neuropsychiatric side-effects (odds ratio 2.79 [1.35-5.70], P < 0.05) but did not affect treatment outcome. Twenty-seven patients reported schizophrenia: three (11%) received antiviral therapy, compared with 30% admitting depression and 20% with bipolar affective disorder (all assessed by psychiatrist). In most schizophrenia cases, the reason for not offering antiviral treatment was psychological illness, yet none of five treated (these three plus two others in a psychiatric rehabilitation facility) experienced worsening psychiatric symptoms. A history of depression is common with hepatitis C but does not affect initiation of antiviral treatment, despite substantially increased risk of psychiatric side-effects. In contrast, pre-existing schizophrenia appears to influence treatment decisions, despite little evidence that PEG-IFN/RBV exacerbates the psychiatric condition, and well-supervised antiviral therapy can have good outcomes.

The Association between Psychiatric Comorbidities and Outcomes for Inpatients with Traumatic Brain Injury.

PubMed

Brandel, Michael G; Hirshman, Brian R; McCutcheon, Brandon A; Tringale, Kathryn; Carroll, Kate; Richtand, Neil M; Perry, William; Chen, Clark C; Carter, Bob S

2017-03-01

It is well established that traumatic brain injury (TBI) is associated with the development of psychiatric disorders. However, the impact of psychiatric disorders on TBI outcome is less well understood. We examined the outcomes of patients who experienced a traumatic subdural hemorrhage and whether a comorbid psychiatric disorder was associated with a change in outcome. A retrospective observational study was performed in the California Office of Statewide Health Planning and Development (OSHPD) and the Nationwide Inpatient Sample (NIS). Patients hospitalized for acute subdural hemorrhage were identified using International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes. Patients with coexisting psychiatric diagnoses were identified. Outcomes studied included mortality and adverse discharge disposition. In OSPHD, diagnoses of depression (OR = 0.64, p < 0.001), bipolar disorder (OR = 0.45, p < 0.05), and anxiety (OR = 0.37, p < 0.001) were associated with reduced mortality during hospitalization for TBI, with a trend toward psychosis (OR = 0.56, p = 0.08). Schizophrenia had no effect. Diagnoses of psychosis (OR = 2.12, p < 0.001) and schizophrenia (OR = 2.60, p < 0.001) were associated with increased adverse discharge. Depression and bipolar disorder had no effect, and anxiety was associated with reduced adverse discharge (OR = 0.73, p = 0.01). Results were confirmed using the NIS. Analysis revealed novel associations between coexisting psychiatric diagnoses and TBI outcomes, with some subgroups having decreased mortality and increased adverse discharge. Potential mechanisms include pharmacological effects of frequently prescribed psychiatric medications, the pathophysiology of individual psychiatric disorders, or under-coding of psychiatric illness in the most severely injured patients. Because pharmacological mechanisms, if validated, might lead to improved outcome in TBI patients, further studies may provide significant public health benefit.

A proposal for a new multiaxial model of psychiatric diagnosis. A continuum-based patient model derived from evolutionary developmental gene-environment interaction.

PubMed

Leigh, Hoyle

2009-01-01

To review recent genetic and neuroscientific research on psychiatric syndromes based on the current diagnostic scheme, and develop a better-fitting multiaxial patient-oriented diagnostic model. DSM I, published in 1952, considered psychiatric illnesses as reactions or extremes of adaptations of the patient's personality to stressful environmental demands. Personality itself was determined by constitution and psychodynamic development. In 1980, this continuum model gave way to an atheoretical categorical diagnostic scheme (DSM III), based on research diagnostic criteria for obtaining 'pure cultures' of patients for biological research. Subsequent research using the 'pure cultures' suggests that psychiatric syndromes represent a phenotypic continuum determined by genes, childhood traumas, and recent stress, mitigated by childhood nurturance, education, and current social support. Specific gene x childhood abuse x recent stress interactions have been discovered, which may serve as a model of how interacting vulnerability genes may or may not result in a psychiatric syndrome, depending on the individual's developmental history and current stress. A continuum model is proposed, with genes interacting with early experiences of stress or nurturance resulting in brain states that may evince minor but persistent symptoms (neurosis) or maladaptive patterns of behavior (personality disorder). The addition of recent or current stress may precipitate a major psychiatric syndrome. While a severe genetic predisposition, such as a mutation, may be sufficient to cause a major syndrome, major psychiatric syndromes are best conceptualized as dysregulation of evolutionarily adaptive brain functions, such as anxiety and vigilance. A new multiaxial model of psychiatric diagnosis is proposed based on this model: axis I for phenomenological diagnoses that include major psychiatric syndromes (e.g. depressive syndrome, psychosis), neuroses, personality disorders, and isolated symptoms; axis II for geno-neuroscience diagnoses, some of which may represent biological conditions associated with axis I, i.e. genes, specific brain morphology, and the functional state of specific brain areas based on laboratory and imaging studies; axis III for medical diseases and conditions; axis IV for stress (childhood, recent, and current); axis V for psychosocial assets (intelligence, education, school/work, social support, and global assessment of functioning) over past 5 years and current. (c) 2008 S. Karger AG, Basel.

The impact of facility relocation on patients' perceptions of ward atmosphere and quality of received forensic psychiatric care.

PubMed

Alexiou, Eirini; Degl' Innocenti, Alessio; Kullgren, Anette; Wijk, Helle

2016-08-01

In recent years, large groups of forensic psychiatric patients have been relocated into new medium- and maximum-security forensic psychiatric facilities in Sweden, where a psychosocial care approach is embedded. From this perspective and on the assumption that physical structures affect the therapeutic environment, a prospective longitudinal study was designed to investigate the impact of the facility relocation of three forensic psychiatric hospitals on patients' perceptions of ward atmosphere and quality of received forensic psychiatric care. Participants were patients over 18 years of age sentenced to compulsory forensic psychiatric treatment. Data were obtained by validated questionnaires. Overall, 58 patients (78%) answered the questionnaires at baseline with a total of 25 patients (34%) completing follow-up 1 at six months and 11 patients (15%) completing follow-up 2, one year after relocation. Approximately two-thirds of the participants at all time-points were men and their age range varied from 18 to 69. The results of this study showed that poor physical environment features can have a severe impact on care quality and can reduce the possibilities for person-centered care. Furthermore, the study provides evidence that the patients' perceptions of person-centered care in forensic psychiatric clinics are highly susceptible to factors in the physical and psychosocial environment. Future work will explore the staff's perception of ward atmosphere and the possibilities to adapt a person-centered approach in forensic psychiatric care after facility relocation. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

The Novaco Anger Scale-Provocation Inventory (1994 version) in Dutch forensic psychiatric patients.

PubMed

Hornsveld, Ruud H J; Muris, Peter; Kraaimaat, Floris W

2011-12-01

We examined the psychometric properties of the Novaco Anger Scale-Provocation Inventory (NAS-PI, 1994 version) in Dutch violent forensic psychiatric patients and secondary vocational students. A confirmatory factor analysis of the subscale structure of the NAS was carried out, reliability was investigated, and relations were calculated between NAS-PI scores and other measures of personality traits and problem behaviors. The 3-subscale structure of the original NAS could not be confirmed. However, the internal consistency of the NAS and the PI was excellent, and the test-retest reliability of the NAS was good. The validity of the NAS and the PI was supported by a meaningful pattern of correlations with alternative measures of anger and personality traits. Forensic psychiatric outpatients displayed higher NAS scores than secondary vocational students, but inpatients scored even lower than this nonclinical control group. Our preliminary conclusion is that the NAS-PI is a valuable instrument for the assessment of anger in Dutch violent forensic psychiatric patients.

Co-clustering phenome–genome for phenotype classification and disease gene discovery

PubMed Central

Hwang, TaeHyun; Atluri, Gowtham; Xie, MaoQiang; Dey, Sanjoy; Hong, Changjin; Kumar, Vipin; Kuang, Rui

2012-01-01

Understanding the categorization of human diseases is critical for reliably identifying disease causal genes. Recently, genome-wide studies of abnormal chromosomal locations related to diseases have mapped >2000 phenotype–gene relations, which provide valuable information for classifying diseases and identifying candidate genes as drug targets. In this article, a regularized non-negative matrix tri-factorization (R-NMTF) algorithm is introduced to co-cluster phenotypes and genes, and simultaneously detect associations between the detected phenotype clusters and gene clusters. The R-NMTF algorithm factorizes the phenotype–gene association matrix under the prior knowledge from phenotype similarity network and protein–protein interaction network, supervised by the label information from known disease classes and biological pathways. In the experiments on disease phenotype–gene associations in OMIM and KEGG disease pathways, R-NMTF significantly improved the classification of disease phenotypes and disease pathway genes compared with support vector machines and Label Propagation in cross-validation on the annotated phenotypes and genes. The newly predicted phenotypes in each disease class are highly consistent with human phenotype ontology annotations. The roles of the new member genes in the disease pathways are examined and validated in the protein–protein interaction subnetworks. Extensive literature review also confirmed many new members of the disease classes and pathways as well as the predicted associations between disease phenotype classes and pathways. PMID:22735708

A random set scoring model for prioritization of disease candidate genes using protein complexes and data-mining of GeneRIF, OMIM and PubMed records.

PubMed

Jiang, Li; Edwards, Stefan M; Thomsen, Bo; Workman, Christopher T; Guldbrandtsen, Bernt; Sørensen, Peter

2014-09-24

Prioritizing genetic variants is a challenge because disease susceptibility loci are often located in genes of unknown function or the relationship with the corresponding phenotype is unclear. A global data-mining exercise on the biomedical literature can establish the phenotypic profile of genes with respect to their connection to disease phenotypes. The importance of protein-protein interaction networks in the genetic heterogeneity of common diseases or complex traits is becoming increasingly recognized. Thus, the development of a network-based approach combined with phenotypic profiling would be useful for disease gene prioritization. We developed a random-set scoring model and implemented it to quantify phenotype relevance in a network-based disease gene-prioritization approach. We validated our approach based on different gene phenotypic profiles, which were generated from PubMed abstracts, OMIM, and GeneRIF records. We also investigated the validity of several vocabulary filters and different likelihood thresholds for predicted protein-protein interactions in terms of their effect on the network-based gene-prioritization approach, which relies on text-mining of the phenotype data. Our method demonstrated good precision and sensitivity compared with those of two alternative complex-based prioritization approaches. We then conducted a global ranking of all human genes according to their relevance to a range of human diseases. The resulting accurate ranking of known causal genes supported the reliability of our approach. Moreover, these data suggest many promising novel candidate genes for human disorders that have a complex mode of inheritance. We have implemented and validated a network-based approach to prioritize genes for human diseases based on their phenotypic profile. We have devised a powerful and transparent tool to identify and rank candidate genes. Our global gene prioritization provides a unique resource for the biological interpretation of data from genome-wide association studies, and will help in the understanding of how the associated genetic variants influence disease or quantitative phenotypes.

Cultural challenges to the psychiatric enterprise.

PubMed

Fabrega, H

1995-01-01

Two challenges to psychiatry emanating from the study of cultural differences in mental illness are reviewed. The first challenge, conducted under the banner of cultural relativism, appeared to undermine the validity of psychiatric disorders. The misconceptions of this challenge, as embodied in the excesses of the labeling theory of sociology, were associated with the writings of antipsychiatrists and rejection of the community mental health movement. The result of all this was a devaluation of insights inherent in the cultural perspective. The second challenge draws emphasis to the pervasive role played by cultural differences in every facet of the psychiatric enterprise. Its relevance and contributions are briefly summarized. The study of the cultural sciences as they pertain to psychiatry offers a necessary corrective to the increasing impersonality and reductionism that is coming to characterize the neurobiologic approach.

Anxiety, depression, and somatization in DSM-III hypochondriasis.

PubMed

Kellner, R; Abbott, P; Winslow, W W; Pathak, D

1989-01-01

To assess the severity of distress and of somatization in hypochondriasis, the authors administered several validated self-rating scales of depression, anxiety, somatic symptoms, and anger/hostility to 21 psychiatric outpatients with the DSM-III diagnosis of hypochondriasis and to matched groups of other nonpsychotic psychiatric patients, family practice patients, and employees. Anxiety and somatic symptoms were highest in hypochondriacal patients; depression and anger/hostility did not differ from those of other psychiatric patients but were higher than in the other groups. The findings do not support the theory that hypochondriasis is a defense against anxiety or that it is a masked depression or depressive equivalent. The findings are consistent with the view that the interaction of severe anxiety and severe somatic symptoms is a common feature of the psychopathology of hypochondriasis.

The myths of coping with loss in undergraduate psychiatric nursing books.

PubMed

Holman, E Alison; Perisho, Jennifer; Edwards, Ada; Mlakar, Natalie

2010-12-01

Nurses often help patients cope with loss. Recent research has cast doubt on the validity of early theories about loss and grief commonly taught to nurses. We systematically examined the accuracy of information on coping with loss presented in 23 commonly used undergraduate psychiatric nursing books. All 23 books contained at least one unsupported assumption (myth) about loss and grief. In 78% of these books, authors described four or more myths and only one evidence-based finding about coping with loss. On balance most books provided details on the myths about grief and loss with minimal discussion of the current evidence. Authors of psychiatric nursing books continue to disseminate unsupported theories about grief responses without adequately acknowledging evidence challenging core assumptions underlying them. Copyright © 2010 Wiley Periodicals, Inc.

Using electronic patient records to discover disease correlations and stratify patient cohorts.

PubMed

Roque, Francisco S; Jensen, Peter B; Schmock, Henriette; Dalgaard, Marlene; Andreatta, Massimo; Hansen, Thomas; Søeby, Karen; Bredkjær, Søren; Juul, Anders; Werge, Thomas; Jensen, Lars J; Brunak, Søren

2011-08-01

Electronic patient records remain a rather unexplored, but potentially rich data source for discovering correlations between diseases. We describe a general approach for gathering phenotypic descriptions of patients from medical records in a systematic and non-cohort dependent manner. By extracting phenotype information from the free-text in such records we demonstrate that we can extend the information contained in the structured record data, and use it for producing fine-grained patient stratification and disease co-occurrence statistics. The approach uses a dictionary based on the International Classification of Disease ontology and is therefore in principle language independent. As a use case we show how records from a Danish psychiatric hospital lead to the identification of disease correlations, which subsequently can be mapped to systems biology frameworks.

Schizophrenia and organic brain syndrome with trisomy 8 (group-C trisomy 8 [47, XX, 8+]).

PubMed

Sperber, M A

1975-02-01

A supernumerary autosomal syndrome in the C group of submetacentric autosomes has not yet been delineated phenotypically, although cases of an extra C-group autosome have been reported. Recent technical advances (fluorescence and Giemsa banding) now permit positive identification of each autosome. The present case reports the presence of schizophrenia and organic brain syndrome in association with trisomy 8. It is the sixth case of trisomy 8 reported to date. A stress-diathesis model is used to explain the development of the psychiatric disturbances. The patient's autosomal aberration is regarded as diathetic, and the multiple congenital anomalies, surgical interventions, infections, familial, and other environmental responses as stress. This report provides further data for the phenotypic delineation of a trisomy 8 syndrome.

The Dubai Community Psychiatric Survey: II. Development of the Socio-cultural Change Questionnaire.

PubMed

Bebbington, P; Ghubash, R; Hamdi, E

1993-04-01

The Dubai Community Psychiatric Survey was carried out to assess the effect of very rapid social change on the mental health of women in Dubai, one of the United Arab Emirates. In order to measure social change at an individual level, we developed a questionnaire covering behaviour and attitudes in a wide range of situations, the Socio-cultural Change Questionnaire (ScCQ). In this paper we give an account of the considerations that determined the form of the ScCQ, its structural characteristics, and its validity.

Detection of an endogenous urinary biomarker associated with CYP2D6 activity using global metabolomics.

PubMed

Tay-Sontheimer, Jessica; Shireman, Laura M; Beyer, Richard P; Senn, Taurence; Witten, Daniela; Pearce, Robin E; Gaedigk, Andrea; Gana Fomban, Cletus L; Lutz, Justin D; Isoherranen, Nina; Thummel, Kenneth E; Fiehn, Oliver; Leeder, J Steven; Lin, Yvonne S

2014-12-01

We sought to discover endogenous urinary biomarkers of human CYP2D6 activity. Healthy pediatric subjects (n = 189) were phenotyped using dextromethorphan and randomized for candidate biomarker selection and validation. Global urinary metabolomics was performed using liquid chromatography quadrupole time-of-flight mass spectrometry. Candidate biomarkers were tested in adults receiving fluoxetine, a CYP2D6 inhibitor. A biomarker, M1 (m/z 444.3102) was correlated with CYP2D6 activity in both the pediatric training and validation sets. Poor metabolizers had undetectable levels of M1, whereas it was present in subjects with other phenotypes. In adult subjects, a 9.56-fold decrease in M1 abundance was observed during CYP2D6 inhibition. Identification and validation of M1 may provide a noninvasive means of CYP2D6 phenotyping.

The Structure of The Extended Psychosis Phenotype in Early Adolescence—A Cross-sample Replication

PubMed Central

Wigman, Johanna T. W.; Vollebergh, Wilma A. M.; Raaijmakers, Quinten A. W.; Iedema, Jurjen; van Dorsselaer, Saskia; Ormel, Johan; Verhulst, Frank C.; van Os, Jim

2011-01-01

The extended psychosis phenotype, or the expression of nonclinical positive psychotic experiences, is already prevalent in adolescence and has a dose-response risk relationship with later psychotic disorder. In 2 large adolescent general population samples (n = 5422 and n = 2230), prevalence and structure of the extended psychosis phenotype was investigated. Positive psychotic experiences, broadly defined, were reported by the majority of adolescents. Exploratory analysis with Structural Equation Modelling (Exploratory Factor Analysis followed by Confirmatory Factor Analysis [CFA]) in sample 1 suggested that psychotic experiences were best represented by 5 underlying dimensions; CFA in sample 2 provided a replication of this model. Dimensions were labeled Hallucinations, Delusions, Paranoia, Grandiosity, and Paranormal beliefs. Prevalences differed strongly, Hallucinations having the lowest and Paranoia having the highest rates. Girls reported more experiences on all dimensions, except Grandiosity, and from age 12 to 16 years rates increased. Hallucinations, Delusions, and Paranoia, but not Grandiosity and Paranormal beliefs, were associated with distress and general measures of psychopathology. Thus, only some of the dimensions of the extended psychosis phenotype in young people may represent a continuum with more severe psychopathology and predict later psychiatric disorder. PMID:20044595

Are There Sex Differences in the Predictive Validity of DSM-IV ADHD among Younger Children?

ERIC Educational Resources Information Center

Lahey, Benjamin B.; Hartung, Cynthia M.; Loney, Jan; Pelham, William E.; Chronis, Andrea M.; Lee, Steve S.

2007-01-01

We assessed the predictive validity of attention-deficit/hyperactivity disorder (ADHD) in 20 girls and 98 boys who met the Diagnostic and Statistical Manual for Mental Disorders (4th ed., American Psychiatric Association, 1994) criteria for ADHD at 4 to 6 years of age compared to 24 female and 102 male comparison children. Over the next 8 years,…

Concordance of the Mini-Psychiatric Assessment Schedule for Adults Who Have Developmental Disabilities (PASADD) and the Brief Symptom Inventory

ERIC Educational Resources Information Center

Beail, N.; Mitchell, K.; Vlissides, N.; Jackson, T.

2015-01-01

Background: When assessing the mental health needs of people who have intellectual disabilities (ID) it is important to use measures that have good validity and reliability to ensure accurate case recognition and reliable and valid outcome data. Measures developed for this purpose tend to be self-report or by informant report. Multi-trait…

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

PubMed

Yilmaz, Zeynep; Szatkiewicz, Jin P; Crowley, James J; Ancalade, NaEshia; Brandys, Marek K; van Elburg, Annemarie; de Kovel, Carolien G F; Adan, Roger A H; Hinney, Anke; Hebebrand, Johannes; Gratacos, Monica; Fernandez-Aranda, Fernando; Escaramis, Georgia; Gonzalez, Juan R; Estivill, Xavier; Zeggini, Eleftheria; Sullivan, Patrick F; Bulik, Cynthia M

2017-08-01

Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases. In addition, one case had a deletion in the 13q12 region, overlapping with a deletion reported previously in two AN cases. As a secondary aim, we also examined our sample for CNVs over 1 Mbp in size. Out of the 40 instances of such large CNVs that were not implicated previously for AN or neuropsychiatric phenotypes, two of them contained genes with previous neuropsychiatric associations, and only five of them had no associated reports in public CNV databases. Although ours is the largest study of its kind in AN, larger datasets are needed to comprehensively assess the role of CNVs in the etiology of AN.

Development and validation of PSPSQ 2.0 measuring patient satisfaction with pharmacist services.

PubMed

Sakharkar, Prashant; Bounthavong, Mark; Hirsch, Jan D; Morello, Candis M; Chen, Timothy C; Law, Anandi V

2015-01-01

The extant literature reveals a lack of psychometrically validated tools measuring patient satisfaction with pharmacist clinical services. The Patient Satisfaction with Pharmacist Services Questionnaire (PSPSQ 2.0) was developed to address this need using a mixed methods approach. To assess the psychometric properties of the PSPSQ 2.0, an instrument developed to measure patient satisfaction with clinical services provided by pharmacists. Validation studies were conducted in two Veterans Affairs (VA)-based and two community-based (diabetes and psychiatric care) disease management/medication therapy management clinics. The PSPSQ 2.0 consisted of 22-items related to three domains identified as quality of care, patient-pharmacist relationship and overall satisfaction using a 4-point, Likert-type scale. It was administered to participants following their session with a pharmacist at the clinics. Collected data were analyzed for descriptive statistics, internal consistency, and validity using exploratory factor analysis. A total of 149 patients completed the survey. Patients from VA clinics were on average 61 years old, mostly white (63%), and predominantly male (95%). Patients from non-VA clinics were on average 47 years old, mostly White (47%) and male (53%). Non-VA patients mostly had Medicaid (42%) and commercial health insurance (31%), whereas VA patients retained benefits with the US Department of Veterans Affairs. Reliability of the scale using internal consistency metrics revealed a Cronbach's alpha of 0.98, 0.98 and 0.95 for VA, diabetes, and psychiatric care clinics, respectively, whereas the Cronbach's alpha for the pooled sample was 0.96. Factor analyses resulted in a three-factor solution accounting for 91% and 69% variance for diabetes and psychiatric care clinics, respectively; however, VA clinics and pooled sample yielded only 2-factor solution with 80% and 66% variance, respectively, with more items loading on patient-pharmacist relationship domain. The results suggest that the PSPSQ 2.0 can serve as a reliable and valid tool for measuring patient satisfaction with pharmacists providing clinical services in VA- and non-VA settings upon further validation. Copyright © 2015 Elsevier Inc. All rights reserved.

Psychiatric morbidity among physically injured Syrian refugees in Turkey.

PubMed

Al-Nuaimi, Saleem; Aldandashi, Samer; Easa, Abdul Kadir Saed; Saqqur, Maher

2018-01-01

To the best of our knowledge, the mental health status of physically injured Syrian refugees has not yet been investigated. The aim of this study was to examine the prevalence of psychiatric morbidity among physically injured Syrian refugees in Turkey receiving treatment at the main rehabilitation centre near the Syrian border. This is a cross sectional study. Information was collected from consenting injured Syrian refugees at Dar-el-Shefa'a Hospital in Reyhanlı (Turkey) during a one week period in December 2012 and another one week period in August 2013. A clinical psychiatric interview was conducted to determine a diagnosis according to the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders (DSM) IV-TR. A total of 40 refugees consented and completed a clinical psychiatric interview. All refugees in this study did not have a significant past psychiatric history. The most prevalent current diagnosis was major depressive disorder (22.5%), adjustment disorder (20%), and post-traumatic stress disorder (15%). Five (12.5%) patients had no evidence of a psychiatric disorder. The prevalence of psychiatric morbidity among injured Syrian refugees in our study was extremely high. This may help guide the treatment and management of this select population. This study had a low number of participants. The method of assessment was not standardized with a validated tool. This study may help guide the treatment and management of this select population, both in neighbouring countries and as resettled refugees in Western host countries. Copyright © 2017 Elsevier Inc. All rights reserved.

Ethnicity and Psychiatric Disorders

PubMed Central

Hawes, Armani M.; Axinn, William G.; Ghimire, Dirgha J.

2016-01-01

Psychiatric disorders are one of the leading causes of disease-related disability in the world today. However, little is known about the ethnic variation of these disorders within populations. This is especially true in contexts outside of the United States and the European Diaspora. This study provides new evidence from South Asia on ethnic differences in Major Depressive Episode, Major Depressive Disorder, Panic Attack, Panic Disorder, Post-Traumatic Stress Disorder, and Intermittent Explosive Disorder. We use data from 400 adult interviews conducted in Nepal in a controlled comparison design as a case study. We use a series of multilevel logistic regression models to predict ethnic group differences in psychiatric disorders and episodes with measures from clinically validated World Mental Health survey instruments. Compared to the Brahmin/Chhetri group, we found historically excluded Dalits had statistically significantly higher odds of almost all psychiatric disorders and episodes. We also found that historically resilient Janajatis had statistically significantly lower odds of being diagnosed with PTSD than the majority Brahmin/Chhetri group. We also found no significant gender difference in MDD or MDE. Psychiatric disorders and episodes vary significantly by ethnicity within a rural Asian population, but gender differences are small. PMID:28824961

Psychiatric epidemiology: selected recent advances and future directions.

PubMed Central

Kessler, R. C.

2000-01-01

Reviewed in this article are selected recent advances and future challenges for psychiatric epidemiology. Major advances in descriptive psychiatric epidemiology in recent years include the development of reliable and valid fully structured diagnostic interviews, the implementation of parallel cross-national surveys of the prevalences and correlates of mental disorders, and the initiation of research in clinical epidemiology. Remaining challenges include the refinement of diagnostic categories and criteria, recognition and evaluation of systematic underreporting bias in surveys of mental disorders, creation and use of accurate assessment tools for studying disorders of children, adolescents, the elderly, and people in less developed countries, and setting up systems to carry out small area estimations for needs assessment and programme planning. Advances in analytical and experimental epidemiology have been more modest. A major challenge is for psychiatric epidemiologists to increase the relevance of their analytical research to their colleagues in preventative psychiatry as well as to social policy analysts. Another challenge is to develop interventions aimed at increasing the proportion of people with mental disorders who receive treatment. Despite encouraging advances, much work still needs to be conducted before psychiatric epidemiology can realize its potential to improve the mental health of populations. PMID:10885165

Variability in the efficacy of psychopharmaceuticals: contributions from pharmacogenomics, ethnopsychopharmacology, and psychological and psychiatric anthropologies.

PubMed

Ninnemann, Kristi M

2012-03-01

Psychological and psychiatric anthropology have long questioned the universality of psychiatric diagnoses, bringing to light the fluidity of mental disorder, and recognizing that the experience and expression of psychopathology is influenced by complex and interacting genetic, environmental, and cultural factors. The majority of our discussions, however, have remained centered around the role of culture in shaping mental illness: drawing attention to subjective experiences of mental illness and culturally patterned modes of symptom presentation, and interrogating the cogency of universal diagnostic rubrics. Psychological and psychiatric anthropology have yet to robustly engage the broadly assumed universal validity of psychiatric medications and the ways in which they are prescribed and experienced. This article provides an introduction into the fields of pharmacogenomics and ethnopsychopharmacology, areas of inquiry seeking to understand the ways in which genetic variability occurring between, and within, large population groups influences individual ability to metabolize psychotropic medications. This piece further addresses the complex issue of psychopharmaceutical efficacy, stressing the ways in which, just as with psychopathology, medications and their outcomes are likewise influenced by the complex interactions of genes, environment, and culture. Lastly, ways in which anthropology can and should engage with the growing fields of pharmacogenomics and ethnopsychopharmacology are suggested.

On the Link Between Emotionally Driven Impulsivity and Aggression: Evidence From a Validation Study on the Dutch UPPS-P.

PubMed

Bousardt, A M C; Noorthoorn, E O; Hoogendoorn, A W; Nijman, H L I; Hummelen, J W

2018-06-01

The UPPS-P seems to be a promising instrument for measuring different domains of impulsivity in forensic psychiatric patients. Validation studies of the instrument however, have been conducted only in student groups. In this validation study, three groups completed the Dutch UPPS-P: healthy student ( N = 94) and community ( N = 134) samples and a forensic psychiatric sample ( N = 73). The five-factor structure reported previously could only be substantiated in a confirmatory factor analysis over the combined groups but not in the subsamples. Subgroup sample sizes might be too small to allow such complex analyses. Internal consistency, as assessed by Cronbach's alpha, was high on most subscale and sample combinations. In explaining aggression, especially the initial subscale negative urgency (NU) was related to elevated scores on self-reported aggression in the healthy samples (student and community). The current study is the second study that found a relationship between self-reported NU and aggression highlighting the importance of addressing this behavioural domain in aggression management therapy.

Phenotype Instance Verification and Evaluation Tool (PIVET): A Scaled Phenotype Evidence Generation Framework Using Web-Based Medical Literature.

PubMed

Henderson, Jette; Ke, Junyuan; Ho, Joyce C; Ghosh, Joydeep; Wallace, Byron C

2018-05-04

Researchers are developing methods to automatically extract clinically relevant and useful patient characteristics from raw healthcare datasets. These characteristics, often capturing essential properties of patients with common medical conditions, are called computational phenotypes. Being generated by automated or semiautomated, data-driven methods, such potential phenotypes need to be validated as clinically meaningful (or not) before they are acceptable for use in decision making. The objective of this study was to present Phenotype Instance Verification and Evaluation Tool (PIVET), a framework that uses co-occurrence analysis on an online corpus of publically available medical journal articles to build clinical relevance evidence sets for user-supplied phenotypes. PIVET adopts a conceptual framework similar to the pioneering prototype tool PheKnow-Cloud that was developed for the phenotype validation task. PIVET completely refactors each part of the PheKnow-Cloud pipeline to deliver vast improvements in speed without sacrificing the quality of the insights PheKnow-Cloud achieved. PIVET leverages indexing in NoSQL databases to efficiently generate evidence sets. Specifically, PIVET uses a succinct representation of the phenotypes that corresponds to the index on the corpus database and an optimized co-occurrence algorithm inspired by the Aho-Corasick algorithm. We compare PIVET's phenotype representation with PheKnow-Cloud's by using PheKnow-Cloud's experimental setup. In PIVET's framework, we also introduce a statistical model trained on domain expert-verified phenotypes to automatically classify phenotypes as clinically relevant or not. Additionally, we show how the classification model can be used to examine user-supplied phenotypes in an online, rather than batch, manner. PIVET maintains the discriminative power of PheKnow-Cloud in terms of identifying clinically relevant phenotypes for the same corpus with which PheKnow-Cloud was originally developed, but PIVET's analysis is an order of magnitude faster than that of PheKnow-Cloud. Not only is PIVET much faster, it can be scaled to a larger corpus and still retain speed. We evaluated multiple classification models on top of the PIVET framework and found ridge regression to perform best, realizing an average F1 score of 0.91 when predicting clinically relevant phenotypes. Our study shows that PIVET improves on the most notable existing computational tool for phenotype validation in terms of speed and automation and is comparable in terms of accuracy. ©Jette Henderson, Junyuan Ke, Joyce C Ho, Joydeep Ghosh, Byron C Wallace. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 04.05.2018.

Phenotype Instance Verification and Evaluation Tool (PIVET): A Scaled Phenotype Evidence Generation Framework Using Web-Based Medical Literature

PubMed Central

Ke, Junyuan; Ho, Joyce C; Ghosh, Joydeep; Wallace, Byron C

2018-01-01

Background Researchers are developing methods to automatically extract clinically relevant and useful patient characteristics from raw healthcare datasets. These characteristics, often capturing essential properties of patients with common medical conditions, are called computational phenotypes. Being generated by automated or semiautomated, data-driven methods, such potential phenotypes need to be validated as clinically meaningful (or not) before they are acceptable for use in decision making. Objective The objective of this study was to present Phenotype Instance Verification and Evaluation Tool (PIVET), a framework that uses co-occurrence analysis on an online corpus of publically available medical journal articles to build clinical relevance evidence sets for user-supplied phenotypes. PIVET adopts a conceptual framework similar to the pioneering prototype tool PheKnow-Cloud that was developed for the phenotype validation task. PIVET completely refactors each part of the PheKnow-Cloud pipeline to deliver vast improvements in speed without sacrificing the quality of the insights PheKnow-Cloud achieved. Methods PIVET leverages indexing in NoSQL databases to efficiently generate evidence sets. Specifically, PIVET uses a succinct representation of the phenotypes that corresponds to the index on the corpus database and an optimized co-occurrence algorithm inspired by the Aho-Corasick algorithm. We compare PIVET’s phenotype representation with PheKnow-Cloud’s by using PheKnow-Cloud’s experimental setup. In PIVET’s framework, we also introduce a statistical model trained on domain expert–verified phenotypes to automatically classify phenotypes as clinically relevant or not. Additionally, we show how the classification model can be used to examine user-supplied phenotypes in an online, rather than batch, manner. Results PIVET maintains the discriminative power of PheKnow-Cloud in terms of identifying clinically relevant phenotypes for the same corpus with which PheKnow-Cloud was originally developed, but PIVET’s analysis is an order of magnitude faster than that of PheKnow-Cloud. Not only is PIVET much faster, it can be scaled to a larger corpus and still retain speed. We evaluated multiple classification models on top of the PIVET framework and found ridge regression to perform best, realizing an average F1 score of 0.91 when predicting clinically relevant phenotypes. Conclusions Our study shows that PIVET improves on the most notable existing computational tool for phenotype validation in terms of speed and automation and is comparable in terms of accuracy. PMID:29728351

Serotonin-related pathways and developmental plasticity: relevance for psychiatric disorders

PubMed Central

Dayer, Alexandre

2014-01-01

Risk for adult psychiatric disorders is partially determined by early-life alterations occurring during neural circuit formation and maturation. In this perspective, recent data show that the serotonin system regulates key cellular processes involved in the construction of cortical circuits. Translational data for rodents indicate that early-life serotonin dysregulation leads to a wide range of behavioral alterations, ranging from stress-related phenotypes to social deficits. Studies in humans have revealed that serotonin-related genetic variants interact with early-life stress to regulate stress-induced cortisol responsiveness and activate the neural circuits involved in mood and anxiety disorders. Emerging data demonstrate that early-life adversity induces epigenetic modifications in serotonin-related genes. Finally, recent findings reveal that selective serotonin reuptake inhibitors can reinstate juvenile-like forms of neural plasticity, thus allowing the erasure of long-lasting fear memories. These approaches are providing new insights on the biological mechanisms and clinical application of antidepressants. PMID:24733969

Comparison of children with autism spectrum disorder with and without schizophrenia spectrum traits: gender, season of birth, and mental health risk factors.

PubMed

Gadow, Kenneth D; DeVincent, Carla J

2012-11-01

Children with autism spectrum disorder (ASD) with and without co-occurring schizophrenia spectrum traits (SST) were examined for differences in co-occurring psychiatric symptoms, background characteristics, and mental health risk factors. Participating mothers and teachers completed a DSM-IV-referenced rating scale and a background questionnaire (mothers only) describing 147 children (6-12 years) with ASD. There was a clear pattern of group differences in co-occurring psychiatric symptom severity (+SST > SST-) and background characteristics. Children with impairing SST had more mental health risk factors. Girls were more likely to be classified SST according to mothers' ratings. Children born in spring-summer were more likely to be classified non-SST by teachers' ratings. Findings provide tentative evidence that SST may be a useful marker of behavioral heterogeneity within the ASD clinical phenotype.

Acceptability and psychometric properties of Brøset Violence Checklist in psychiatric care settings in China.

PubMed

Yao, X; Li, Z; Arthur, D; Hu, L; An, F-R; Cheng, G

2014-01-01

Short-term risk assessment instrument owns great importance for psychiatric nurses in China; however, the lack of a standardized violence risk assessment instrument has disadvantaged them in clinical practice. The Brøset Violence Checklist (BVC), a behavioural observation tool, is the most frequently cited instrument available for evaluating violence risk in psychiatric inpatients, then worth to be tested in Chinese culture. This study, conducted in two closed wards in a psychiatric hospital in Beijing, revealed that the instrument has favourable reliability, validity and predictive accuracy in Chinese population. BVC provides nurses with a quick and easily administered method to screening out patients with violence potential, thus allowing for early intervention. Feedback from the nurses was quite encouraging and the further use of BVC seems promising. The lack of standardized violence risk assessment instrument has disadvantaged nurses in clinical practice in China, where violent behaviour is an increasing problem. This study conducted a validation of the Brøset Violence Checklist that has proven effective in violence risk prediction in other countries. A sample of 296 patients consecutively admitted to two wards of a psychiatric hospital in Beijing was recruited. These patients were assessed on day shift and evening shift for the first seven days of hospitalization. Violence data and preventive measures were concurrently collected from nursing records and case reports. A total of 3707 assessments for 281 patients were collected revealing 93 episodes of violence among 55 patients. Receiver operating characteristics yielded an area under the curve of 0.85. At the cut-off point of one, its sensitivity/specificity was 78.5%/88.2% and the corresponding positive/negative predictive value was 14.6%/99.4%. In some false positive cases, intense preventive measures had been implemented. Positive feedback from the nurses was gained. The Brøset Violence Checklist was proved as an easy-to-use and time-saving instrument, therefore, regarded as a promising tool to determine if the psychiatric users are potentially violent in the short term. © 2014 John Wiley & Sons Ltd.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

PubMed Central

Kraan, Claudine M.; Bui, Quang Minh; Bellgrove, Mark A.; Metcalfe, Sylvia A.; Trollor, Julian N.; Hocking, Darren R.; Slater, Howard R.; Inaba, Yoshimi; Li, Xin; Archibald, Alison D.; Turbitt, Erin; Cohen, Jonathan; Godler, David E.

2015-01-01

Objective: To examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women. Methods: A total of 35 FMR1 PM women aged between 22 and 55 years and 35 age- and IQ-matched women controls (CGG <45) participated in this study. All participants completed a range of executive function tests and self-reported symptoms of psychiatric disorders. The molecular measures included DNA methylation of the FMR1 CpG island in blood, presented as FMR1 activation ratio (AR), and 9 CpG sites located at the FMR1 exon1/intron 1 boundary, CGG size, and FMR1 mRNA levels. Results: We show that FMR1 intron 1 methylation levels could be used to dichotomize PM women into greater and lower risk categories (p = 0.006 to 0.037; odds ratio = 14–24.8), with only FMR1 intron 1 methylation, and to a lesser extent AR, being significantly correlated with the likelihood of probable dysexecutive or psychiatric symptoms (p < 0.05). Furthermore, the significant relationships between methylation and social anxiety were found to be mediated by executive function performance, but only in PM women. FMR1 exon 1 methylation, CGG size, and FMR1 mRNA could not predict probable dysexecutive/psychiatric disorders in PM women. Conclusions: This is the first study supporting presence of specific epigenetic etiology associated with increased risk of developing comorbid dysexecutive and social anxiety symptoms in PM women. These findings could have implications for early intervention and risk estimate recommendations aimed at improving the outcomes for PM women and their families. PMID:25809302

Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments.

PubMed

Saigi-Morgui, Núria; Vandenberghe, Frederik; Delacrétaz, Aurélie; Quteineh, Lina; Choong, Eva; Gholamrezaee, Mehdi; Magistretti, Pierre; Aubry, Jean-Michel; von Gunten, Armin; Preisig, Martin; Castelao, Enrique; Vollenweider, Peter; Waeber, Gerard; Kutalik, Zoltán; Conus, Philippe; Eap, Chin B

2015-10-01

Weight gain is a major health problem among psychiatric populations. It implicates several receptors and hormones involved in energy balance and metabolism. Phosphoenolpyruvate carboxykinase 1 is a rate-controlling enzyme involved in gluconeogenesis, glyceroneogenesis and cataplerosis and has been related to obesity and diabetes phenotypes in animals and humans. The aim of this study was to investigate the association of phosphoenolpyruvate carboxykinase 1 polymorphisms with metabolic traits in psychiatric patients treated with psychotropic drugs inducing weight gain and in general population samples. One polymorphism (rs11552145G > A) significantly associated with body mass index in the psychiatric discovery sample (n = 478) was replicated in 2 other psychiatric samples (n1 = 168, n2 = 188), with AA-genotype carriers having lower body mass index as compared to G-allele carriers. Stronger associations were found among women younger than 45 years carrying AA-genotype as compared to G-allele carriers (-2.25 kg/m, n = 151, P = 0.009) and in the discovery sample (-2.20 kg/m, n = 423, P = 0.0004). In the discovery sample for which metabolic parameters were available, AA-genotype showed lower waist circumference (-6.86 cm, P = 0.008) and triglycerides levels (-5.58 mg/100 mL, P < 0.002) when compared to G-allele carriers. Finally, waist-to-hip ratio was associated with rs6070157 (proxy of rs11552145, r = 0.99) in a population-based sample (N = 123,865, P = 0.022). Our results suggest an association of rs11552145G > A polymorphism with metabolic-related traits, especially in psychiatric populations and in women younger than 45 years.

Examining the construct validity of the Psychopathic Personality Inventory-Revised: preferential correlates of fearless dominance and self-centered impulsivity.

PubMed

Edens, John F; McDermott, Barbara E

2010-03-01

Although the construct of psychopathy is frequently construed as a unitary syndrome, the Psychopathic Personality Inventory (PPI; Lilienfeld & Andrews, 1996) and its revision, the PPI-R (Lilienfeld & Widows, 2005), are composed of 2 scales, termed Fearless Dominance (FD) and Self-Centered Impulsivity (SCI), which appear to reflect orthogonal dimensions. In this study, we examined the construct validity of the FD and SCI scales of the PPI-R as markers of these constructs with a range of theoretically relevant correlates assessed across multiple domains in a sample of 200 forensic psychiatric inpatients. Results were generally, though not uniformly, consistent with hypothesized relationships: The SCI scale positively and selectively predicted anger and hostility, impulsivity, total psychiatric symptoms, drug abuse or dependence, antisocial behavior, and violence risk, whereas FD predicted anger, depression, anxiety symptoms (negatively), and alcohol abuse or dependence (positively). PsycINFO Database Record (c) 2010 APA, all rights reserved.

Validation of a Brief Structured Interview: The Children's Interview for Psychiatric Syndromes (ChIPS).

PubMed

Young, Matthew E; Bell, Ziv E; Fristad, Mary A

2016-12-01

Evidence-based assessment is important in the treatment of childhood psychopathology. While researchers and clinicians frequently use structured diagnostic interviews to ensure reliability, the most commonly used instrument, the Schedule for Affective Disorders and Schizophrenia for School Aged Children (K-SADS) is too long for most clinical applications. The Children's Interview for Psychiatric Syndromes (ChIPS/P-ChIPS) is a highly-structured brief diagnostic interview. The present study compared K-SADS and ChIPS/P-ChIPS diagnoses in an outpatient clinical sample of 50 parent-child pairs aged 7-14. Agreement between most diagnoses was moderate to high between the instruments and with consensus clinical diagnoses. ChIPS was significantly briefer to administer than the K-SADS. Interviewer experience level and participant demographics did not appear to affect agreement. Results provide further evidence for the validity of the ChIPS and support its use in clinical and research settings.

Brief screening for co-occurring disorders among women entering substance abuse treatment.

PubMed

Lincoln, Alisa K; Liebschutz, Jane M; Chernoff, Miriam; Nguyen, Dana; Amaro, Hortensia

2006-09-07

Despite the importance of identifying co-occurring psychiatric disorders in substance abuse treatment programs, there are few appropriate and validated instruments available to substance abuse treatment staff to conduct brief screen for these conditions. This paper describes the development, implementation and validation of a brief screening instrument for mental health diagnoses and trauma among a diverse sample of Black, Hispanic and White women in substance abuse treatment. With input from clinicians and consumers, we adapted longer existing validated instruments into a 14 question screen covering demographics, mental health symptoms and physical and sexual violence exposure. All women entering treatment (methadone, residential and out-patient) at five treatment sites were screened at intake (N = 374). Eighty nine percent reported a history of interpersonal violence, and 70% reported a history of sexual assault. Eighty-eight percent reported mental health symptoms in the last 30 days. The screening questions administered to 88 female clients were validated against in-depth psychiatric diagnostic assessments by trained mental health clinicians. We estimated measures of predictive validity, including sensitivity, specificity and predictive values positive and negative. Screening items were examined multiple ways to assess utility. The screen is a useful and valid proxy for PTSD but not for other mental illness. Substance abuse treatment programs should incorporate violence exposure questions into clinical use as a matter of policy. More work is needed to develop brief screening tools measures for front-line treatment staff to accurately assess other mental health needs of women entering substance abuse treatment.

Development and preliminary validation of a measure of social inclusion for use in people with mental health problems: the SInQUE.

PubMed

Mezey, Gillian; White, Sarah; Thachil, Ajoy; Berg, Rachel; Kallumparam, Sen; Nasiruddin, Omar; Wright, Christine; Killaspy, Helen

2013-08-01

Social exclusion can be both a cause and a consequence of mental health problems. Socially inclusive practice by mental health professionals can mitigate against the stigmatizing and excluding effects of severe mental illness. To develop and test the validity of a measure of social inclusion for individuals with severe mental illness - the Social Inclusion Questionnaire User Experience (SInQUE). The domains of the SInQUE were chosen to reflect the domains of social inclusion identified in the Poverty and Social Exclusion Survey. Patients with severe mental illness were recruited from rehabilitation, general and forensic psychiatric services and were asked to complete the questionnaire in an individual interview with a researcher. Sixty six patients with schizophrenia and schizoaffective disorder completed the SInQUE, alongside measures of psychiatric symptoms, needs and quality of life, to assess its acceptability, and concurrent and construct (convergent and discriminant) validity. The SInQUE took 45 minutes to complete and was found to have good concurrent and discriminant validity. Convergent validity was established for two domains: social integration and productivity. Preliminary findings suggest that the SInQUE may be a useful tool for assessing and monitoring social inclusion in individuals with severe mental illness. It has construct and concurrent validity with measures of unmet need and quality of life in this group. Further testing of the reliability of the SInQUE on a larger population is indicated.

Does degree of gyrification underlie the phenotypic and genetic associations between cortical surface area and cognitive ability?

PubMed

Docherty, Anna R; Hagler, Donald J; Panizzon, Matthew S; Neale, Michael C; Eyler, Lisa T; Fennema-Notestine, Christine; Franz, Carol E; Jak, Amy; Lyons, Michael J; Rinker, Daniel A; Thompson, Wesley K; Tsuang, Ming T; Dale, Anders M; Kremen, William S

2015-02-01

The phenotypic and genetic relationship between global cortical size and general cognitive ability (GCA) appears to be driven by surface area (SA) and not cortical thickness (CT). Gyrification (cortical folding) is an important property of the cortex that helps to increase SA within a finite space, and may also improve connectivity by reducing distance between regions. Hence, gyrification may be what underlies the SA-GCA relationship. In previous phenotypic studies, a 3-dimensional gyrification index (3DGI) has been positively associated with cognitive ability and negatively associated with mild cognitive impairment, Alzheimer's disease, and psychiatric disorders affecting cognition. However, the differential genetic associations of 3DGI and SA with GCA are still unclear. We examined the heritability of 3DGI, and the phenotypic, genetic, and environmental associations of 3DGI with SA and GCA in a large sample of adult male twins (N = 512). Nearly 85% of the variance in 3DGI was due to genes, and 3DGI had a strong phenotypic and genetic association with SA. Both 3DGI and total SA had positive phenotypic correlations with GCA. However, the SA-GCA correlation remained significant after controlling for 3DGI, but not the other way around. There was also significant genetic covariance between SA and GCA, but not between 3DGI and GCA. Thus, despite the phenotypic and genetic associations between 3DGI and SA, our results do not support the hypothesis that gyrification underlies the association between SA and GCA. Copyright © 2014 Elsevier Inc. All rights reserved.

A functional U-statistic method for association analysis of sequencing data.

PubMed

Jadhav, Sneha; Tong, Xiaoran; Lu, Qing

2017-11-01

Although sequencing studies hold great promise for uncovering novel variants predisposing to human diseases, the high dimensionality of the sequencing data brings tremendous challenges to data analysis. Moreover, for many complex diseases (e.g., psychiatric disorders) multiple related phenotypes are collected. These phenotypes can be different measurements of an underlying disease, or measurements characterizing multiple related diseases for studying common genetic mechanism. Although jointly analyzing these phenotypes could potentially increase the power of identifying disease-associated genes, the different types of phenotypes pose challenges for association analysis. To address these challenges, we propose a nonparametric method, functional U-statistic method (FU), for multivariate analysis of sequencing data. It first constructs smooth functions from individuals' sequencing data, and then tests the association of these functions with multiple phenotypes by using a U-statistic. The method provides a general framework for analyzing various types of phenotypes (e.g., binary and continuous phenotypes) with unknown distributions. Fitting the genetic variants within a gene using a smoothing function also allows us to capture complexities of gene structure (e.g., linkage disequilibrium, LD), which could potentially increase the power of association analysis. Through simulations, we compared our method to the multivariate outcome score test (MOST), and found that our test attained better performance than MOST. In a real data application, we apply our method to the sequencing data from Minnesota Twin Study (MTS) and found potential associations of several nicotine receptor subunit (CHRN) genes, including CHRNB3, associated with nicotine dependence and/or alcohol dependence. © 2017 WILEY PERIODICALS, INC.

Development and validation of an Overreporting Scale for the Personality Inventory for DSM-5 (PID-5).

PubMed

Sellbom, Martin; Dhillon, Sonya; Bagby, R Michael

2018-05-01

Our aim in the current study was to develop a validity scale for the Personality Inventory for DSM-5 (PID-5) to detect noncredible overreported responding. To this end, we used a rare symptoms approach and identified extreme response options on PID-5 items that were infrequently endorsed by students in 3 different university samples (N = 1,370) and in a psychiatric patient sample (N = 194). The resulting 10-item scale (the PID-5-ORS) produced adequate-to-good estimates of internal reliability and was significantly correlated with the Minnesota Multiphasic Personality Inventory-2 Restructued Form (MMPI-2-RF) overreporting validity scales, providing evidence of concurrent validity. The criterion validity of the PID-5-ORS was demonstrated in an analog simulation design study. More specifically, university students instructed to overreport (n = 80) scored substantially higher on the PID-5-ORS relative to both a group of genuine psychiatric patients and students instructed to complete the PID-5 under standard (honest) instructions (n = 161); the effect size magnitudes associated with these differences were large. Classification accuracy analyses further revealed that high scores on the PID-5-ORS were associated with high specificity (and thus, low rates of false positive classifications) in differentiating overreporters from genuine patients, with sensitivity being somewhat weaker. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Reliability and validity of the adolescent health profile-types.

PubMed

Riley, A W; Forrest, C B; Starfield, B; Green, B; Kang, M; Ensminger, M

1998-08-01

The purpose of this study was to demonstrate the preliminary reliability and validity of a set 13 profiles of adolescent health that describe distinct patterns of health and health service requirements on four domains of health. Reliability and validity were tested in four ethnically diverse population samples of urban and rural youths aged 11 to 17-years-old in public schools (N = 4,066). The reliability of the classification procedure and construct validity were examined in terms of the predicted and actual distributions of age, gender, race, socioeconomic status, and family type. School achievement, medical conditions, and the proportion of youths with a psychiatric disorder also were examined as tests of construct validity. The classification method was shown to produce consistent results across the four populations in terms of proportions of youths assigned with specific sociodemographic characteristics. Variations in health described by specific profiles showed expected relations to sociodemographic characteristics, family structure, school achievement, medical disorders, and psychiatric disorders. This taxonomy of health profile-types appears to effectively describe a set of patterns that characterize adolescent health. The profile-types provide a unique and practical method for identifying subgroups having distinct needs for health services, with potential utility for health policy and planning. Such integrative reporting methods are critical for more effective utilization of health status instruments in health resource planning and policy development.

Reduced motivation in the BACHD rat model of Huntington disease is dependent on the choice of food deprivation strategy.

PubMed

Jansson, Erik Karl Håkan; Clemens, Laura Emily; Riess, Olaf; Nguyen, Huu Phuc

2014-01-01

Huntington disease (HD) is an inherited neurodegenerative disease characterized by motor, cognitive, psychiatric and metabolic symptoms. Animal models of HD show phenotypes that can be divided into similar categories, with the metabolic phenotype of certain models being characterized by obesity. Although interesting in terms of modeling metabolic symptoms of HD, the obesity phenotype can be problematic as it might confound the results of certain behavioral tests. This concerns the assessment of cognitive function in particular, as tests for such phenotypes are often based on food depriving the animals and having them perform tasks for food rewards. The BACHD rat is a recently established animal model of HD, and in order to ensure that behavioral characterization of these rats is done in a reliable way, a basic understanding of their physiology is needed. Here, we show that BACHD rats are obese and suffer from discrete developmental deficits. When assessing the motivation to lever push for a food reward, BACHD rats were found to be less motivated than wild type rats, although this phenotype was dependent on the food deprivation strategy. Specifically, the phenotype was present when rats of both genotypes were deprived to 85% of their respective free-feeding body weight, but not when deprivation levels were adjusted in order to match the rats' apparent hunger levels. The study emphasizes the importance of considering metabolic abnormalities as a confounding factor when performing behavioral characterization of HD animal models.

Reduced Motivation in the BACHD Rat Model of Huntington Disease Is Dependent on the Choice of Food Deprivation Strategy

PubMed Central

Riess, Olaf; Nguyen, Huu Phuc

2014-01-01

Huntington disease (HD) is an inherited neurodegenerative disease characterized by motor, cognitive, psychiatric and metabolic symptoms. Animal models of HD show phenotypes that can be divided into similar categories, with the metabolic phenotype of certain models being characterized by obesity. Although interesting in terms of modeling metabolic symptoms of HD, the obesity phenotype can be problematic as it might confound the results of certain behavioral tests. This concerns the assessment of cognitive function in particular, as tests for such phenotypes are often based on food depriving the animals and having them perform tasks for food rewards. The BACHD rat is a recently established animal model of HD, and in order to ensure that behavioral characterization of these rats is done in a reliable way, a basic understanding of their physiology is needed. Here, we show that BACHD rats are obese and suffer from discrete developmental deficits. When assessing the motivation to lever push for a food reward, BACHD rats were found to be less motivated than wild type rats, although this phenotype was dependent on the food deprivation strategy. Specifically, the phenotype was present when rats of both genotypes were deprived to 85% of their respective free-feeding body weight, but not when deprivation levels were adjusted in order to match the rats' apparent hunger levels. The study emphasizes the importance of considering metabolic abnormalities as a confounding factor when performing behavioral characterization of HD animal models. PMID:25144554

Clinimetric Testing of the Comprehensive Cervical Dystonia Rating Scale

PubMed Central

Comella, C. L.; Perlmutter, J.S.; Jinnah, H. A.; Waliczek, T. A.; Rosen, A. R.; Galpern, W. R.; Adler, C. H.; Barbano, R. L.; Factor, S. A.; Goetz, C.G.; Jankovic, J.; Reich, S. G.; Rodriguez, R. L.; Severt, W. L.; Zurowski, M.; Fox, S. H.; Stebbins, G.T.

2016-01-01

Objective To test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. Background This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2.; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure. Methods Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale. Clinimetric techniques assessed each module of the scale for reliability, item correlation and factor structure. Results There were 208 cervical dystonia patients (73% women, age 59±10 years, duration 15±12 years). The internal consistency of the motor severity subscale was acceptable (Cronbach’s alpha = 0.57). Item to total correlations showed that elimination of items with low correlations (<0.20) increased alpha to 0.71. Internal consistency estimates for the subscales for disability and pain were 0.88 and 0.95 respectively. The psychiatric screening scale had a Cronbach’s alpha of 0.84 and satisfactory item to total correlations. When the subscales of the Toronto Western Spasmodic Torticollis scale -2 were combined with the psychiatric screening scale, Cronbach's alpha was 0.88, and construct validity assessment demonstrated four rational factors: motor, disability, pain and psychiatric disorders. The Cervical Dystonia Impact Profile-58 had an alpha of 0.98 and its construction was validated through a confirmatory factor analysis. Conclusions The modules of the Comprehensive Cervical Dystonia Rating Scale are internally consistent with a logical factor structure. PMID:26971359

Development of the Treatment Inventory of Costs in Psychiatric Patients: TIC-P Mini and Midi.

PubMed

Timman, Reinier; Bouwmans, Clazien; Busschbach, Jan J V; Hakkaart-van Roijen, Leona

2015-12-01

Medical costs of (psychiatric) illness can be validly measured with patient report questionnaires. These questionnaires comprise many detailed items resulting in lengthy administrations. We set out to find the minimal number of items needed to retrieve 80% and 90% of the costs as measured by the Treatment Inventory of Costs in Patients with psychiatric disorders (TIC-P). The TIC-P is a validated patient-reported outcome measure concerning the utilization of medical care and productivity losses. The present study focused on direct medical costs. We applied data of 7756 TIC-P administrations from three studies in patients with mental health care issues. Items that contribute least to the total cost were eliminated, providing that 80% and 90% of the total cost was retained. Average medical costs per patient were €658 over the last 4 weeks. The distribution of cost was highly skewed, and 5 of the 14 items of the TIC-P accounted for less than 10% of the total costs. The 80% Mini version of the TIC-P required five items: ambulatory services, private practice, day care, general hospital, and psychiatric clinic. The TIC-P Midi 90% inventory required eight items. Both had variance between the three samples in the optimal choice of the items. The number of items of the TIC-P can be reduced considerably while maintaining 80% and 90% of the medical costs estimated by the complete TIC-P. The reduced length makes the questionnaire more suitable for routine outcome monitoring. Copyright © 2015 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Patient casemix classification for medicare psychiatric prospective payment.

PubMed

Drozd, Edward M; Cromwell, Jerry; Gage, Barbara; Maier, Jan; Greenwald, Leslie M; Goldman, Howard H

2006-04-01

For a proposed Medicare prospective payment system for inpatient psychiatric facility treatment, the authors developed a casemix classification to capture differences in patients' real daily resource use. Primary data on patient characteristics and daily time spent in various activities were collected in a survey of 696 patients from 40 inpatient psychiatric facilities. Survey data were combined with Medicare claims data to estimate intensity-adjusted daily cost. Classification and Regression Trees (CART) analysis of average daily routine and ancillary costs yielded several hierarchical classification groupings. Regression analysis was used to control for facility and day-of-stay effects in order to compare hierarchical models with models based on the recently proposed payment system of the Centers for Medicare & Medicaid Services. CART analysis identified a small set of patient characteristics strongly associated with higher daily costs, including age, psychiatric diagnosis, deficits in daily living activities, and detox or ECT use. A parsimonious, 16-group, fully interactive model that used five major DSM-IV categories and stratified by age, illness severity, deficits in daily living activities, dangerousness, and use of ECT explained 40% (out of a possible 76%) of daily cost variation not attributable to idiosyncratic daily changes within patients. A noninteractive model based on diagnosis-related groups, age, and medical comorbidity had explanatory power of only 32%. A regression model with 16 casemix groups restricted to using "appropriate" payment variables (i.e., those with clinical face validity and low administrative burden that are easily validated and provide proper care incentives) produced more efficient and equitable payments than did a noninteractive system based on diagnosis-related groups.

Psychiatric comorbidity and plasma levels of 2-acyl-glycerols in outpatient treatment alcohol users. Analysis of gender differences.

PubMed

García Marchena, Nuria; Araos, Pedro; Pavón, Francisco Javier; Ponce, Guillermo; Pedraz, María; Serrano, Antonia; Arias, Francisco; Romero-Sanchiz, Pablo; Suárez, Juan; Pastor, Antoni; De la Torre, Rafael; Torrens, Marta; Rubio, Gabriel; Rodríguez de Fonseca, Fernando

2016-09-29

Alcohol addiction is associated with high psychiatric comorbidity. Objective stratification of patients is necessary to optimize care and improve prognosis. The present study is designed to gain insights into this challenge by addressing the following objectives: a) to estimate the prevalence of psychiatric comorbidities in a sample of outpatients seeking treatment for alcohol use disorder, b) to describe the existence of gender differences and c) to validate 2-acyl-glycerols as biomarkers of alcohol use disorder and/or psychiatric comorbidity. One hundred and sixty-two patients were recruited and evaluated with the semi-structured interview PRISM. The presence of psychopathology was associated with a greater number of criteria for alcohol abuse and dependence according to DSM-IV-TR. We found gender differences in psychiatric comorbidity, e.g., mood disorder, as well as in comorbid substance use disorders. The prevalence of lifetime psychiatric comorbidity was 68.5%, with mood disorders the most frequent (37%), followed by attention deficit disorder (24.7%) and anxiety disorders (17.9%). Substance-induced disorders were more frequent in mood and psychotic disorders, whereas the primary disorders were more prevalent in patients with comorbid anxiety disorders. We found that 2-acyl-glycerols were significantly decreased in comorbid anxiety disorders in alcohol dependent patients in the last year, which makes them a potential biomarker for this psychopathological condition.

Microglia Gone Rogue: Impacts on Psychiatric Disorders across the Lifespan

PubMed Central

Tay, Tuan Leng; Béchade, Catherine; D’Andrea, Ivana; St-Pierre, Marie-Kim; Henry, Mathilde S.; Roumier, Anne; Tremblay, Marie-Eve

2018-01-01

Microglia are the predominant immune response cells and professional phagocytes of the central nervous system (CNS) that have been shown to be important for brain development and homeostasis. These cells present a broad spectrum of phenotypes across stages of the lifespan and especially in CNS diseases. Their prevalence in all neurological pathologies makes it pertinent to reexamine their distinct roles during steady-state and disease conditions. A major question in the field is determining whether the clustering and phenotypical transformation of microglial cells are leading causes of pathogenesis, or potentially neuroprotective responses to the onset of disease. The recent explosive growth in our understanding of the origin and homeostasis of microglia, uncovering their roles in shaping of the neural circuitry and synaptic plasticity, allows us to discuss their emerging functions in the contexts of cognitive control and psychiatric disorders. The distinct mesodermal origin and genetic signature of microglia in contrast to other neuroglial cells also make them an interesting target for the development of therapeutics. Here, we review the physiological roles of microglia, their contribution to the effects of environmental risk factors (e.g., maternal infection, early-life stress, dietary imbalance), and their impact on psychiatric disorders initiated during development (e.g., Nasu-Hakola disease (NHD), hereditary diffuse leukoencephaly with spheroids, Rett syndrome, autism spectrum disorders (ASDs), and obsessive-compulsive disorder (OCD)) or adulthood (e.g., alcohol and drug abuse, major depressive disorder (MDD), bipolar disorder (BD), schizophrenia, eating disorders and sleep disorders). Furthermore, we discuss the changes in microglial functions in the context of cognitive aging, and review their implication in neurodegenerative diseases of the aged adult (e.g., Alzheimer’s and Parkinson’s). Taking into account the recent identification of microglia-specific markers, and the availability of compounds that target these cells selectively in vivo, we consider the prospect of disease intervention via the microglial route. PMID:29354029

e-PTSD: an overview on how new technologies can improve prediction and assessment of Posttraumatic Stress Disorder (PTSD).

PubMed

Bourla, Alexis; Mouchabac, Stephane; El Hage, Wissam; Ferreri, Florian

2018-01-01

Background : New technologies may profoundly change our way of understanding psychiatric disorders including posttraumatic stress disorder (PTSD). Imaging and biomarkers, along with technological and medical informatics developments, might provide an answer regarding at-risk patient's identification. Recent advances in the concept of 'digital phenotype', which refers to the capture of characteristics of a psychiatric disorder by computerized measurement tools, is one paradigmatic example. Objective : The impact of the new technologies on health professionals practice in PTSD care remains to be determined. The recent evolutions could disrupt the clinical practices and practitioners in their beliefs, ethics and representations, going as far as questioning their professional culture. In the present paper, we conducted an extensive search to highlight the articles which reflect the potential of these new technologies. Method : We conducted an overview by querying PubMed database with the terms [PTSD] [Posttraumatic stress disorder] AND [Computer] OR [Computerized] OR [Mobile] OR [Automatic] OR [Automated] OR [Machine learning] OR [Sensor] OR [Heart rate variability] OR [HRV] OR [actigraphy] OR [actimetry] OR [digital] OR [motion] OR [temperature] OR [virtual reality]. Results : We summarized the synthesized literature in two categories: prediction and assessment (including diagnostic, screening and monitoring). Two independent reviewers screened, extracted data and quality appraised the sources. Results were synthesized narratively. Conclusions : This overview shows that many studies are underway allowing researchers to start building a PTSD digital phenotype using passive data obtained by biometric sensors. Active data obtained from Ecological Momentary Assessment (EMA) could allow clinicians to assess PTSD patients. The place of connected objects, Artificial Intelligence and remote monitoring of patients with psychiatric pathology remains to be defined. These tools must be explained and adapted to the different profiles of physicians and patients. The involvement of patients, caregivers and health professionals is essential to the design and evaluation of these new tools.

Cross-Phenotype Polygenic Risk Score Analysis of Persistent Post-Concussive Symptoms in U.S. Army Soldiers with Deployment-Acquired Traumatic Brain Injury

PubMed Central

Polimanti, Renato; Chen, Chia-Yen; Ursano, Robert J.; Heeringa, Steven G.; Jain, Sonia; Kessler, Ronald C.; Nock, Matthew K.; Smoller, Jordan W.; Sun, Xiaoying; Gelernter, Joel

2017-01-01

Abstract Traumatic brain injury (TBI) contributes to the increased rates of suicide and post-traumatic stress disorder in military personnel and veterans, and it is also associated with the risk for neurodegenerative and psychiatric disorders. A cross-phenotype high-resolution polygenic risk score (PRS) analysis of persistent post-concussive symptoms (PCS) was conducted in 845 U.S. Army soldiers who sustained TBI during their deployment. We used a prospective longitudinal survey of three brigade combat teams to assess deployment-acquired TBI and persistent physical, cognitive, and emotional PCS. PRS was derived from summary statistics of large genome-wide association studies of Alzheimer's disease, Parkinson's disease, schizophrenia, bipolar disorder, and major depressive disorder (MDD); and for years of schooling, college completion, childhood intelligence, infant head circumference (IHC), and adult intracranial volume. Although our study had more than 95% of statistical power to detect moderate-to-large effect sizes, no association was observed with neurodegenerative and psychiatric disorders, suggesting that persistent PCS does not share genetic components with these traits to a moderate-to-large degree. We observed a significant finding: subjects with high IHC PRS recovered better from cognitive/emotional persistent PCS than the other individuals (R2 = 1.11%; p = 3.37 × 10−3). Enrichment analysis identified two significant Gene Ontology (GO) terms related to this result: GO:0050839∼Cell adhesion molecule binding (p = 8.9 × 10−6) and GO:0050905∼Neuromuscular process (p = 9.8 × 10−5). In summary, our study indicated that the genetic predisposition to persistent PCS after TBI does not have substantial overlap with neurodegenerative and psychiatric diseases, but mechanisms related to early brain growth may be involved. PMID:27439997

DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder.

PubMed

Walker, Rosie May; Christoforou, Andrea Nikie; McCartney, Daniel L; Morris, Stewart W; Kennedy, Nicholas A; Morten, Peter; Anderson, Susan Maguire; Torrance, Helen Scott; Macdonald, Alix; Sussmann, Jessika Elizabeth; Whalley, Heather Clare; Blackwood, Douglas H R; McIntosh, Andrew Mark; Porteous, David John; Evans, Kathryn Louise

2016-01-01

Bipolar disorder (BD) is a severe, familial psychiatric condition. Progress in understanding the aetiology of BD has been hampered by substantial phenotypic and genetic heterogeneity. We sought to mitigate these confounders by studying a multi-generational family multiply affected by BD and major depressive disorder (MDD), who carry an illness-linked haplotype on chromosome 4p. Within a family, aetiological heterogeneity is likely to be reduced, thus conferring greater power to detect illness-related changes. As accumulating evidence suggests that altered DNA methylation confers risk for BD and MDD, we compared genome-wide methylation between (i) affected carriers of the linked haplotype (ALH) and married-in controls (MIs), (ii) well unaffected haplotype carriers (ULH) and MI, (iii) ALH and ULH and (iv) all haplotype carriers (LH) and MI. Nominally significant differences in DNA methylation were observed in all comparisons, with differences withstanding correction for multiple testing when the ALH or LH group was compared to the MIs. In both comparisons, we observed increased methylation at a locus in FANCI, which was accompanied by increased FANCI expression in the ALH group. FANCI is part of the Fanconi anaemia complementation (FANC) gene family, which are mutated in Fanconi anaemia and participate in DNA repair. Interestingly, several FANC genes have been implicated in psychiatric disorders. Regional analyses of methylation differences identified loci implicated in psychiatric illness by genome-wide association studies, including CACNB2 and the major histocompatibility complex. Gene ontology analysis revealed enrichment for methylation differences in neurologically relevant genes. Our results highlight altered DNA methylation as a potential mechanism by which the linked haplotype might confer risk for mood disorders. Differences in the phenotypic outcome of haplotype carriers might, in part, arise from additional changes in DNA methylation that converge on neurologically important pathways. Further work is required to investigate the underlying mechanisms and functional consequences of the observed differences in methylation.

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

PubMed Central

Carlson, C; Papolos, D; Pandita, R K; Faedda, G L; Veit, S; Goldberg, R; Shprintzen, R; Kucherlapati, R; Morrow, B

1997-01-01

Velo-cardio-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft palate, learning disabilities, and characteristic facial appearance and is associated with hemizygous deletions within 22q11. A newly recognized clinical feature is the presence of psychiatric illness in children and adults with VCFS. To ascertain the relationship between psychiatric illness, VCFS, and chromosome 22 deletions, we evaluated 26 VCFS patients by clinical and molecular biological methods. The VCFS children and adolescents were found to share a set of psychiatric disorders, including bipolar spectrum disorders and attention-deficit disorder with hyperactivity. The adult patients, >18 years of age, were affected with bipolar spectrum disorders. Four of six adult patients had psychotic symptoms manifested as paranoid and grandiose delusions. Loss-of-heterozygosity analysis of all 26 patients revealed that all but 3 had a large 3-Mb common deletion. One patient had a nested distal deletion and two did not have a detectable deletion. Somatic cell hybrids were developed from the two patients who did not have a detectable deletion within 22q11 and were analyzed with a large number of sequence tagged sites. A deletion was not detected among the two patients at a resolution of 21 kb. There was no correlation between the phenotype and the presence of the deletion within 22q11. The remarkably high prevalence of bipolar spectrum disorders, in association with the congenital anomalies of VCFS and its occurrence among nondeleted VCFS patients, suggest a common genetic etiology. Images Figure 4 PMID:9106531

Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review.

PubMed

Kasmi, Leila; Bonnet, Damien; Montreuil, Michèle; Kalfa, David; Geronikola, Nikoletta; Bellinger, David C; Calderon, Johanna

2017-01-01

Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA. Children with d-TGA display impairments in key neurocognitive areas, including visual-spatial and fine motor abilities, executive functioning, processing speed, and social cognition. As they grow older, they may face additional challenges with a worsening of deficits in higher order cognitive skills, problems in psychosocial adjustment and a higher-than-expected rate of psychiatric disorders, such as attention-deficit hyperactivity disorder, depression, and anxiety. The aim of this review is to summarize the available recent data on neuropsychological and psychiatric outcomes in individuals with d-TGA after the arterial switch operation. We present findings within a life-span perspective, with a particular emphasis on the emerging literature on adolescent and young adult outcomes. Finally, we propose avenues for future research in the CHD adult neuropsychology field. Among these avenues, we explore the potential mechanisms by which pediatric neurodevelopmental impairments may have lifelong adverse effects as well as alternative interventions that could optimize outcomes.

Mental health symptoms as prognostic risk markers of all-cause and psychiatric sickness absence in office workers.

PubMed

Roelen, Corné A M; Hoedeman, Rob; van Rhenen, Willem; Groothoff, Johan W; van der Klink, Jac J L; Bültmann, Ute

2014-02-01

To investigate mental health symptoms as prognostic risk markers of all-cause and psychiatric sickness absence (SA). Mental health symptoms were measured in 1137 office workers with the Four-Dimensional Symptom Questionnaire (4DSQ), including scales for distress, depression, anxiety and somatization. The total number of SA days was accumulated prospectively on the individual level and high SA was defined as ≥30 SA days during 1-year follow-up. Psychiatric SA was also tallied on the individual level during 1-year follow-up. Baseline 4DSQ scores were associated with high all-cause SA and psychiatric SA by logistic regression analysis. The Hosmer-Lemeshow test and calibration slope were used to assess the accuracy of predictions by 4DSQ scores. The ability of 4DSQ scores to discriminate high-risk from low-risk employees was estimated by the area under the receiver operating characteristic curve. Six hundred thirty-three office workers (56%) participated in the study. All 4DSQ scales were prospectively associated with high all-cause SA and with psychiatric SA. Distress and somatization scores showed acceptable calibration, but failed to discriminate between office workers with and without high all-cause SA. The distress scale did show adequate calibration (calibration slope = 0.95) and discrimination (area under the receiver operating characteristic curve = 0.71) for psychiatric SA. Distress was a valid prognostic risk marker for identifying office workers at work, but at risk of future psychiatric SA. Further research is necessary to investigate the prognostic performance of distress as risk marker of psychiatric SA in other working populations and to determine cut-off points for distress.

The internal consistency and concurrent validity of the Hopelessness, Helplessness, and Haplessness Scale in a Turkish clinical sample.

PubMed

Vatan, Sevginar; Lester, David

2008-12-01

The aim of this study was to estimate the concurrent validity of the Hopelessness, Helplessness, and Haplessness Scale developed by Lester (1998). Data were obtained from 75 psychiatric patients. Cronbach alphas ranged from .67 to .90. Scores on the scales were associated with Beck, Weissman, Lester, and Trexler's measure of hopelessness, with the correlation strongest for the new hopelessness scale.

Recognizing cognitive and psychiatric changes in the post-highly active antiretroviral therapy era.

PubMed

Carvalhal, Adriana; Baril, Jean-Guy; Crouzat, Frederic; De Wet, Joss; Junod, Patrice; Kovacs, Colin; Sheehan, Nancy

2012-01-01

Amid numerous complications that plague the health and quality of life of people living with HIV, neurocognitive and psychiatric illnesses pose unique challenges. While there remains uncertainty with respect to the pathophysiology surrounding these disorders, their adverse implications are increasingly recognized. Left undetected, they have the potential to significantly impact patient well being, adherence to antiretroviral treatment and overall health outcomes. As such, early identification of HIV-associated neurocognitive disorders (HAND) and psychiatric illnesses will be paramount in the proactive management of affected patients. The present review focuses on strategies to ensure optimal screening and detection of HAND, depression and substance abuse in routine practice. For each topic, currently available screening methods are discussed. These include identification of risk factors, recognition of relevant symptomatology and an update on validated screening tools that can be efficiently implemented in the clinical setting. Specifically addressed in the present review are the International HIV Dementia Scale, a novel screening equation and algorithm for HAND, as well as brief, validated, verbal questionnaires for detection of depression and substance abuse. Adequate understanding and usage of these screening mechanisms can ensure effective use of resources by distinguishing patients who require referral for more extensive diagnostic procedures from those who likely do not.

Adaptation and initial validation of the Patient Health Questionnaire - 9 (PHQ-9) and the Generalized Anxiety Disorder - 7 Questionnaire (GAD-7) in an Arabic speaking Lebanese psychiatric outpatient sample.

PubMed

Sawaya, Helen; Atoui, Mia; Hamadeh, Aya; Zeinoun, Pia; Nahas, Ziad

2016-05-30

The Patient Health Questionnaire - 9 (PHQ-9) and Generalized Anxiety Disorder - 7 (GAD-7) are short screening measures used in medical and community settings to assess depression and anxiety severity. The aim of this study is to translate the screening tools into Arabic and evaluate their psychometric properties in an Arabic-speaking Lebanese psychiatric outpatient sample. The patients completed the questionnaires, among others, prior to being evaluated by a clinical psychiatrist or psychologist. The scales' internal consistency and factor structure were measured and convergent and discriminant validity were established by comparing the scores with clinical diagnoses and the Psychiatric Diagnostic Screening Questionnaire - MDD subset (PDSQ - MDD). Results showed that the PHQ-9 and GAD-7 are reliable screening tools for depression and anxiety and their factor structures replicated those reported in the literature. Sensitivity and specificity analyses showed that the PHQ-9 is sensitive but not specific at capturing depressive symptoms when compared to clinician diagnoses whereas the GAD-7 was neither sensitive nor specific at capturing anxiety symptoms. The implications of these findings are discussed in reference to the scales themselves and the cultural specificity of the Lebanese population. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Shame, trauma, temperament and psychopathology: Construct validity of the Experience of Shame Scale.

PubMed

Vizin, Gabriella; Urbán, Róbert; Unoka, Zsolt

2016-12-30

Although Experience of Shame Scale (ESS) is used in clinical research and it covers psychiatrically relevant dimensions of chronic shame, characterological (CS), behavioral (BS) and bodily (BoS) respectively, its factor structures were not confirmed on clinical sample. The goals of our research were to examine the factor structure of the Hungarian version of ESS, in addition, to analyze the associations between factors of ESS and different types of predictors, such as clinical status, gender, age, school years, early abuse history, general psychopathology (GSI), and temperament dimensions by using a series of confirmatory factor analyses (CFA) with covariates in a large clinical and matched healthy sample. Psychiatric inpatients (N=148) and healthy control subjects (N=148) participated in this cross-sectional questionnaire study. In both samples, the degree of fit was adequate. The final CFA with covariates model showed significant and positive associations between CS and clinical status and education respectively, between CS, BS, BoS and frequency of verbal abuse, between CS and BoS and GSI and between CS and BS and harm avoidance and in addition we found negative associations between each of the shame factors and age. Our results support the psychiatric validity of the ESS construct. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Recognizing cognitive and psychiatric changes in the post-highly active antiretroviral therapy era

PubMed Central

Carvalhal, Adriana; Baril, Jean-Guy; Crouzat, Frederic; De Wet, Joss; Junod, Patrice; Kovacs, Colin; Sheehan, Nancy

2012-01-01

Amid numerous complications that plague the health and quality of life of people living with HIV, neurocognitive and psychiatric illnesses pose unique challenges. While there remains uncertainty with respect to the pathophysiology surrounding these disorders, their adverse implications are increasingly recognized. Left undetected, they have the potential to significantly impact patient well being, adherence to antiretroviral treatment and overall health outcomes. As such, early identification of HIV-associated neurocognitive disorders (HAND) and psychiatric illnesses will be paramount in the proactive management of affected patients. The present review focuses on strategies to ensure optimal screening and detection of HAND, depression and substance abuse in routine practice. For each topic, currently available screening methods are discussed. These include identification of risk factors, recognition of relevant symptomatology and an update on validated screening tools that can be efficiently implemented in the clinical setting. Specifically addressed in the present review are the International HIV Dementia Scale, a novel screening equation and algorithm for HAND, as well as brief, validated, verbal questionnaires for detection of depression and substance abuse. Adequate understanding and usage of these screening mechanisms can ensure effective use of resources by distinguishing patients who require referral for more extensive diagnostic procedures from those who likely do not. PMID:24294277

Validation of the Perception of Change Scale - Family Version (EMP-F) as a treatment outcome measure in mental health services.

PubMed

Bandeira, Marina; Felicio, Cynthia Mara; Cesari, Luciana

2010-09-01

This study aimed to validate the Perception of Change Scale - Family Version, which evaluates the perception of family caregivers in regard to the treatment outcomes of psychiatric patients in mental health services. Family caregivers (N = 300) of psychiatric patients attending mental health services completed the Perception of Change Scale - Family Version. The scale has 19 items rated in a three-point Likert scale that evaluate changes perceived in the patient's life as a result of treatment. The factorial analysis revealed a four-factor structure, with the following dimensions: 1) occupation, 2) psychological factors, 3) relationships, and 4) physical health. In the internal consistency analysis, Cronbach's alpha coefficient was 0.85. The test-retest temporal stability analysis yielded a significant intraclass correlation coefficient (r = 0.96; p < 0.005). The convergent validity analysis revealed a positive significant correlation with another scale evaluating a distinct but theoretically related construct of family satisfaction with services (r = 0.41; p < 0.05). The Perception of Change Scale - Family Version has adequate reliability and construct and convergent validity. It can be used to evaluate treatment outcome in mental health services from the perspective of family caregivers, indicating targets to improve treatment.

Perils of Pragmatic Psychiatry: How We Can Do Better

PubMed Central

Koola, Maju Mathew; Sebastian, Joseph

2016-01-01

Etiologic and pathophysiologic understanding of psychiatric disorders is still in its early stages. The neurobiology of major psychiatric disorders has yet to be fully elucidated. Psychiatric diagnoses are often based on presenting symptoms, lacking reliability and stability. For a variety of reasons, many notable laboratory and clinical observations have not been tested in large trials. Lacking this validation, these potentially valuable practices have not been widely disseminated nor translated into real world practice. Pragmatic practice today requires optimum use of the available resources. This may sometimes require translating novel treatments supported by strong, evidence-based, level II evidence; but still lacking level I evidence into practice and greater utilization of evidence-based approved practices. The purpose of this paper is to highlight some common avoidable pitfalls in practice, and to offer a few psychopharmacological pearls. PMID:26998529

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.

PubMed

Yin, Jiani; Chen, Wu; Yang, Hongxing; Xue, Mingshan; Schaaf, Christian P

2017-01-03

The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions. Affected individuals manifest variable neurological and behavioral phenotypes, which commonly include developmental delay/intellectual disability, epilepsy, and autism spectrum disorder. Subsets of patients have short attention spans, aggressive behaviors, mood disorders, or schizophrenia. Previous behavioral studies suggested that Chrna7 deficient mice had attention deficits, but were normal in baseline behavioral responses, learning, memory, and sensorimotor gating. Given a growing interest in CHRNA7-related diseases and a better appreciation of its associated human phenotypes, an in-depth behavioral characterization of the Chrna7 deficient mouse model appeared prudent. This study was designed to investigate whether Chrna7 deficient mice manifest phenotypes related to those seen in human individuals, using an array of 12 behavioral assessments and electroencephalogram (EEG) recordings on freely-moving mice. Examined phenotypes included social interaction, compulsive behaviors, aggression, hyperactivity, anxiety, depression, and somatosensory gating. Our data suggests that mouse behavior and EEG recordings are not sensitive to decreased Chrna7 copy number.

Construct Validity of Symptom Checklist-90-Revised (SCL-90-R) and General Health Questionnaire-28 (GHQ-28) in Patients with Drug Addiction and Diabetes, and Normal Population

PubMed Central

ARDAKANI, Abolfazl; SEGHATOLESLAM, Tahereh; HABIL, Hussain; JAMEEI, Fahimeh; RASHID, Rusdi; ZAHIRODIN, Alireza; MOTLAQ, Farid; MASJIDI ARANI, Abbas

2016-01-01

Background: Given that validity is the baseline of psychological assessments, there is a need to provide evidence-based data for construct validity of such scales to advance the clinicians for evaluating psychiatric morbidity in psychiatric and psychosomatic setting. Methods: This comparative cross-sectional study aimed to investigate the construct validity of the Malaysian version of the GHQ-28 and the SCL-90-R. The sample comprised 660 individuals including diabetics, drug dependents, and normal population. The research scales were administered to the participants. Convergent and discriminant validity of both scales were investigated by Confirmatory Factor Analysis (CFA) using AMOS. The Pearson correlation coefficient was utilized to obtain the relationship between the two scales. Results: The internal consistency of the GHQ-28 and SCL-90-R were highly acceptable, and confirmatory factor analysis confirmed the convergent validity of both scales. The results of this study revealed that the construct validity of GHQ-28 was acceptable, whereas discriminant validity of SCL-90-R was not adequate. According to Pearson correlation coefficient the relationships between three common subscales of the GHQ-28 and SCL-90-R were significantly positive; somatization (r=0.671, P<0.01), Anxiety (r=0.728, P<0.01), and Depression (r=0.660, P <0.01). Conclusions: This study replicated the construct of the Malaysian version of GHQ-28, yet failed to support the nine-factor structure of the SCL-90-R. Therefore, multidimensionality of the SCL-90-R as clinical purposes is questionable, and it may be a better unitary measure for assessing and screening mental disorders. Further research need to be carried out to prove this finding. PMID:27252914

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

PubMed

Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L; Ledbetter, David H; Spiro, John E; Chung, Wendy K; Hanson, Ellen

2016-08-01

The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

Clinical criteria for psychiatric diagnosis and DSM-III.

PubMed

Spitzer, R L; Endicott, J; Robins, E

1975-11-01

The authors identify the differences in formal inclusion and exclusion criteria used to classify patient data into diagnoses as the largest source of diagnostic unreliability in psychiatry. They describe the efforts that have been made to reduce these differences, particularly the specified criteria approach to defining diagnostic categories, which was developed for research purposes. On the basis of studies showing that the use of specified criteria increases the reliability of diagnostic judgments, they suggest that including such criteria in the next edition of APA's Diagnostic and Statistical Manual of Mental Disorders (DSM-III) would improve the reliability and validity of routine psychiatric diagnosis.

Understanding and predicting suicidality using a combined genomic and clinical risk assessment approach

PubMed Central

Niculescu, A B; Levey, D F; Phalen, P L; Le-Niculescu, H; Dainton, H D; Jain, N; Belanger, E; James, A; George, S; Weber, H; Graham, D L; Schweitzer, R; Ladd, T B; Learman, R; Niculescu, E M; Vanipenta, N P; Khan, F N; Mullen, J; Shankar, G; Cook, S; Humbert, C; Ballew, A; Yard, M; Gelbart, T; Shekhar, A; Schork, N J; Kurian, S M; Sandusky, G E; Salomon, D R

2015-01-01

Worldwide, one person dies every 40 seconds by suicide, a potentially preventable tragedy. A limiting step in our ability to intervene is the lack of objective, reliable predictors. We have previously provided proof of principle for the use of blood gene expression biomarkers to predict future hospitalizations due to suicidality, in male bipolar disorder participants. We now generalize the discovery, prioritization, validation, and testing of such markers across major psychiatric disorders (bipolar disorder, major depressive disorder, schizoaffective disorder, and schizophrenia) in male participants, to understand commonalities and differences. We used a powerful within-participant discovery approach to identify genes that change in expression between no suicidal ideation and high suicidal ideation states (n=37 participants out of a cohort of 217 psychiatric participants followed longitudinally). We then used a convergent functional genomics (CFG) approach with existing prior evidence in the field to prioritize the candidate biomarkers identified in the discovery step. Next, we validated the top biomarkers from the prioritization step for relevance to suicidal behavior, in a demographically matched cohort of suicide completers from the coroner's office (n=26). The biomarkers for suicidal ideation only are enriched for genes involved in neuronal connectivity and schizophrenia, the biomarkers also validated for suicidal behavior are enriched for genes involved in neuronal activity and mood. The 76 biomarkers that survived Bonferroni correction after validation for suicidal behavior map to biological pathways involved in immune and inflammatory response, mTOR signaling and growth factor regulation. mTOR signaling is necessary for the effects of the rapid-acting antidepressant agent ketamine, providing a novel biological rationale for its possible use in treating acute suicidality. Similarly, MAOB, a target of antidepressant inhibitors, was one of the increased biomarkers for suicidality. We also identified other potential therapeutic targets or biomarkers for drugs known to mitigate suicidality, such as omega-3 fatty acids, lithium and clozapine. Overall, 14% of the top candidate biomarkers also had evidence for involvement in psychological stress response, and 19% for involvement in programmed cell death/cellular suicide (apoptosis). It may be that in the face of adversity (stress), death mechanisms are turned on at a cellular (apoptosis) and organismal level. Finally, we tested the top increased and decreased biomarkers from the discovery for suicidal ideation (CADM1, CLIP4, DTNA, KIF2C), prioritization with CFG for prior evidence (SAT1, SKA2, SLC4A4), and validation for behavior in suicide completers (IL6, MBP, JUN, KLHDC3) steps in a completely independent test cohort of psychiatric participants for prediction of suicidal ideation (n=108), and in a future follow-up cohort of psychiatric participants (n=157) for prediction of psychiatric hospitalizations due to suicidality. The best individual biomarker across psychiatric diagnoses for predicting suicidal ideation was SLC4A4, with a receiver operating characteristic (ROC) area under the curve (AUC) of 72%. For bipolar disorder in particular, SLC4A4 predicted suicidal ideation with an AUC of 93%, and future hospitalizations with an AUC of 70%. SLC4A4 is involved in brain extracellular space pH regulation. Brain pH has been implicated in the pathophysiology of acute panic attacks. We also describe two new clinical information apps, one for affective state (simplified affective state scale, SASS) and one for suicide risk factors (Convergent Functional Information for Suicide, CFI-S), and how well they predict suicidal ideation across psychiatric diagnoses (AUC of 85% for SASS, AUC of 89% for CFI-S). We hypothesized a priori, based on our previous work, that the integration of the top biomarkers and the clinical information into a universal predictive measure (UP-Suicide) would show broad-spectrum predictive ability across psychiatric diagnoses. Indeed, the UP-Suicide was able to predict suicidal ideation across psychiatric diagnoses with an AUC of 92%. For bipolar disorder, it predicted suicidal ideation with an AUC of 98%, and future hospitalizations with an AUC of 94%. Of note, both types of tests we developed (blood biomarkers and clinical information apps) do not require asking the individual assessed if they have thoughts of suicide, as individuals who are truly suicidal often do not share that information with clinicians. We propose that the widespread use of such risk prediction tests as part of routine or targeted healthcare assessments will lead to early disease interception followed by preventive lifestyle modifications and proactive treatment. PMID:26283638

Advancing biomarker research: utilizing 'Big Data' approaches for the characterization and prevention of bipolar disorder.

PubMed

McIntyre, Roger S; Cha, Danielle S; Jerrell, Jeanette M; Swardfager, Walter; Kim, Rachael D; Costa, Leonardo G; Baskaran, Anusha; Soczynska, Joanna K; Woldeyohannes, Hanna O; Mansur, Rodrigo B; Brietzke, Elisa; Powell, Alissa M; Gallaugher, Ashley; Kudlow, Paul; Kaidanovich-Beilin, Oksana; Alsuwaidan, Mohammad

2014-08-01

To provide a strategic framework for the prevention of bipolar disorder (BD) that incorporates a 'Big Data' approach to risk assessment for BD. Computerized databases (e.g., Pubmed, PsychInfo, and MedlinePlus) were used to access English-language articles published between 1966 and 2012 with the search terms bipolar disorder, prodrome, 'Big Data', and biomarkers cross-referenced with genomics/genetics, transcriptomics, proteomics, metabolomics, inflammation, oxidative stress, neurotrophic factors, cytokines, cognition, neurocognition, and neuroimaging. Papers were selected from the initial search if the primary outcome(s) of interest was (were) categorized in any of the following domains: (i) 'omics' (e.g., genomics), (ii) molecular, (iii) neuroimaging, and (iv) neurocognitive. The current strategic approach to identifying individuals at risk for BD, with an emphasis on phenotypic information and family history, has insufficient predictive validity and is clinically inadequate. The heterogeneous clinical presentation of BD, as well as its pathoetiological complexity, suggests that it is unlikely that a single biomarker (or an exclusive biomarker approach) will sufficiently augment currently inadequate phenotypic-centric prediction models. We propose a 'Big Data'- bioinformatics approach that integrates vast and complex phenotypic, anamnestic, behavioral, family, and personal 'omics' profiling. Bioinformatic processing approaches, utilizing cloud- and grid-enabled computing, are now capable of analyzing data on the order of tera-, peta-, and exabytes, providing hitherto unheard of opportunities to fundamentally revolutionize how psychiatric disorders are predicted, prevented, and treated. High-throughput networks dedicated to research on, and the treatment of, BD, integrating both adult and younger populations, will be essential to sufficiently enroll adequate samples of individuals across the neurodevelopmental trajectory in studies to enable the characterization and prevention of this heterogeneous disorder. Advances in bioinformatics using a 'Big Data' approach provide an opportunity for novel insights regarding the pathoetiology of BD. The coordinated integration of research centers, inclusive of mixed-age populations, is a promising strategic direction for advancing this line of neuropsychiatric research. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Aptitude of psychiatric nurses: conceptual considerations and measurement difficulties.

PubMed

Haspeslagh, M; Delesie, L; Igodt, P

2008-06-01

Patient allocation is common practice in psychiatric nursing. This study investigates nurse aptitude, a sub-concept of competence, to validate and refine patient allocation. The focus is on operationalizing aptitude for daily management purposes. Aptitude varies in function of the tasks to be performed and the therapeutic relationship of each psychiatric nurse with her individual patients. Time, job context, socio-cultural context and semantic frame of reference have also to be taken into account when operationalizing aptitude. Self and peer opinions are a basis for aptitude measurement as patient care and its management are shared among a small team of nurses. A meticulous idio-graphic analysis is necessary. These constraints generate several measurement difficulties that are to be dealt with without too many unrealistic assumptions. The research design enabled reliable aggregation of peer 'on' and 'from' opinions. These allowed confrontation of opinions and identification of bias in these. Stepwise explorative experimentation led to gauging and calibrating a specific aptitude questionnaire to the context of psychiatric nursing. The final version is now being applied in practice in 14 wards of 11 hospitals in Flanders.

Does the disorder matter? Investigating a moderating effect on coached noncredible overreporting using the MMPI-2 and PAI.

PubMed

Veltri, Carlo O C; Williams, John E

2013-04-01

The use of psychological tests to help identify the noncredible overreporting of psychiatric disorders is a long-standing practice that has received considerable attention from researchers. The purpose of this study was to experimentally determine whether feigning specific psychiatric disorders moderated the influence of coaching on the detection of noncredible overreporting using the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) and the Personality Assessment Inventory (PAI). Using a 2 × 3 experimental analogue design, 265 undergraduates were asked to feign schizophrenia, posttraumatic stress disorder, or generalized anxiety disorder and were either coached about validity scales and disorders or not. The results of this study indicated that the specific psychiatric disorder being feigned did moderate the impact coaching had on the detection of overreported psychopathology using several scales on the MMPI-2 and PAI. Future research examining noncredible overreporting should take into account the impact caused by the interaction of psychiatric disorder with coaching on the detection of symptom overreporting and also identify other important moderating/mediating variables in order to develop more effective means of identifying response bias.

Evaluation of the alcohol use disorders identification test and the drug use disorders identification test among patients at a Norwegian psychiatric emergency ward.

PubMed

Gundersen, Oystein Hoel; Mordal, Jon; Berman, Anne H; Bramness, Jørgen G

2013-01-01

High rates of substance use disorders (SUD) among psychiatric patients are well documented. This study explores the usefulness of the Alcohol Use Disorders Identification Test (AUDIT) and the Drug Use Disorders Identification Test (DUDIT) in identifying SUD in emergency psychiatric patients. Of 287 patients admitted consecutively, 256 participants (89%) were included, and 61-64% completed the questionnaires and the Mini-International Neuropsychiatric Interview (MINI), used as the reference standard. Both AUDIT and DUDIT were valid (area under the curve above 0.92) and reliable (Cronbach's alpha above 0.89) in psychotic and nonpsychotic men and women. The suitable cutoff scores for AUDIT were higher among the psychotic than nonpsychotic patients, with 12 versus 10 in men and 8 versus 5 in women. The suitable cutoff scores for DUDIT were 1 in both psychotic and nonpsychotic women, and 5 versus 1 in psychotic and nonpsychotic men, respectively. This study shows that AUDIT and DUDIT may provide precise information about emergency psychiatric patients' problematic alcohol and drug use. Copyright © 2013 S. Karger AG, Basel.

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

PubMed Central

Gkogkas, Christos G.; Khoutorsky, Arkady; Cao, Ruifeng; Jafarnejad, Seyed Mehdi; Prager-Khoutorsky, Masha; Giannakas, Nikolaos; Kaminari, Archontia; Fragkouli, Apostolia; Nader, Karim; Price, Theodore J.; Konicek, Bruce W.; Graff, Jeremy R.; Tzinia, Athina K.; Lacaille, Jean-Claude; Sonenberg, Nahum

2015-01-01

SUMMARY Fragile X syndrome (FXS) is the leading genetic cause of autism. Mutations in Fmr1 (fragile X mental retardation 1 gene) engender exaggerated translation resulting in dendritic spine dysmorphogenesis, synaptic plasticity alterations, and behavioral deficits in mice, which are reminiscent of FXS pheno-types. Using postmortem brains from FXS patients and Fmr1 knockout mice (Fmr1 −/y), we show that phosphorylation of the mRNA 5′ cap binding protein, eukaryotic initiation factor 4E (eIF4E), is elevated concomitant with increased expression of matrix metalloproteinase 9 (MMP-9) protein. Genetic or pharmacological reduction of eIF4E phosphorylation rescued core behavioral deficits, synaptic plasticity alterations, and dendritic spine morphology defects via reducing exaggerated translation of Mmp9 mRNA in Fmr1 −/y mice, whereas MMP-9 overexpression produced several FXS-like phenotypes. These results uncover a mechanism of regulation of synaptic function by translational control of Mmp-9 in FXS, which opens the possibility of new treatment avenues for the diverse neurological and psychiatric aspects of FXS. PMID:25466251

Assessment of nursing workload in adult psychiatric inpatient units: a scoping review.

PubMed

Sousa, C; Seabra, P

2018-05-16

No systematic reviews on measurement tools in adult psychiatric inpatient settings exist in the literature, and thus, further research is required on ways to identify approaches to calculate safe nurse staffing levels based on patients' care needs in adult psychiatric inpatient units. To identify instruments that enable an assessment of nursing workload in psychiatric settings. Method A scoping review was conducted. Four studies were identified, with five instruments used to support the calculation of staff needs and workload. All four studies present methodological limitations. Two instruments have already been adapted to this specific context, but validation studies are lacking. The findings indicate that the tools used to evaluate nursing workload in these settings require further development, with the concomitant need for more research to clarify the definition of nursing workload as well as to identify factors with the greatest impact on nursing workload. This review highlights the need to develop tools to assess workload in psychiatric inpatient units that embrace patient-related and non-patient-related activities. The great challenge is to enable a sensitive perception of workload resulting from nurses' psychotherapeutic interventions, an important component of treatment for many patients. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Binary constructs of forensic psychiatric nursing: a pilot study.

PubMed

Mason, T; Dulson, J; King, L

2009-03-01

The aim was to develop an Information Gathering Schedule (IGS) relevant to forensic psychiatric nursing in order to establish the perceived differences in the three levels of security, high, medium and low. Perceived differences in the role constructs of forensic psychiatric nursing is said to exist but the evidence is qualitative or anecdotal. This paper sets out a pilot study beginning in 2004 relating to the development of two rating scales for inclusion into an IGS to acquire data on the role constructs of nurses working in these environments. Following a thematic analysis from the literature two sets of binary frameworks were constructed and a number of questions/statements relating to them were tested. The Thurstone Scaling test was applied to compute medians resulting in a reduction to 48 and 20 items for each respective framework. Two 7-point Likert scales were constructed and test-retest procedures were applied on a sample population of forensic psychiatric nurses. Student's t-test was conducted on the data and the results suggest that the IGS is now suitable for application on a larger study. The IGS was piloted on a small sample of forensic psychiatric nurses. The two scales were validated to coefficient values ranging from 0.7 to 0.9. Amendments were made and the IGS was considered acceptable.

Predictive validity of the structured assessment of violence risk in youth: A 4-year follow-up.

PubMed

Gammelgård, Monica; Koivisto, Anna-Maija; Eronen, Markku; Kaltiala-Heino, Riittakerttu

2015-07-01

Structured violence risk assessment is an essential part of treatment planning for violent young people. The Structured Assessment of Violence Risk in Youth (SAVRY) has been shown to have good reliability and validity in a range of settings but has hardly been studied in adolescent mental health services. This study aimed to evaluate the long-term predictive validity of the SAVRY in adolescent psychiatry settings. In a prospective study, 200 SAVRY assessments of adolescents were acquired from psychiatric, forensic and correctional settings. Re-offending records from the Finnish National Crime Register were collected. Receiver operating curve statistics were applied. High SAVRY total and individual subscale scores and low values on the protective factor subscale were significantly associated with subsequent adverse outcomes, but the predictive value of the total score was weak. At the risk item level, those indicating antisocial lifestyle, absence of social support and pro-social involvement were strong indicators of subsequent criminal convictions, with or without violence. The SAVRY summary risk rating was the best indicator of likelihood of being convicted of a violent crime. After allowing for sex, age, psychiatric diagnosis and treatment setting, for example, conviction for a violent crime was over nine times more likely among those young people given high SAVRY summary risk ratings. The SAVRY is a valid and useful method for assessing both short-term and long-term risks of violent and non-violent crime by young people in psychiatric as well as criminal justice settings, adding to a traditional risk-centred assessment approach by also indicating where future preventive treatment efforts should be targeted. The next steps should be to evaluate its role in everyday clinical practice when using the knowledge generated to inform and monitor management and treatment strategies. Copyright © 2014 John Wiley & Sons, Ltd.

The validity of using an electrocutaneous device for pain assessment in patients with cervical radiculopathy.

PubMed

Abbott, Allan; Ghasemi-Kafash, Elaheh; Dedering, Åsa

2014-10-01

The purpose of this study was to evaluate the validity and preference for assessing pain magnitude with electrocutaneous testing (ECT) compared to the visual analogue scale (VAS) and Borg CR10 scale in men and women with cervical radiculopathy of varying sensory phenotypes. An additional purpose was to investigate ECT sensory and pain thresholds in men and women with cervical radiculopathy of varying sensory phenotypes. This is a cross-sectional study of 34 patients with cervical radiculopathy. Scatterplots and linear regression were used to investigate bivariate relationships between ECT, VAS and Borg CR10 methods of pain magnitude measurement as well as ECT sensory and pain thresholds. The use of the ECT pain magnitude matching paradigm for patients with cervical radiculopathy with normal sensory phenotype shows good linear association with arm pain VAS (R(2) = 0.39), neck pain VAS (R(2) = 0.38), arm pain Borg CR10 scale (R(2) = 0.50) and neck pain Borg CR10 scale (R(2) = 0.49) suggesting acceptable validity of the procedure. For patients with hypoesthesia and hyperesthesia sensory phenotypes, the ECT pain magnitude matching paradigm does not show adequate linear association with rating scale methods rendering the validity of the procedure as doubtful. ECT for sensory and pain threshold investigation, however, provides a method to objectively assess global sensory function in conjunction with sensory receptor specific bedside examination measures.

A pragmatic approach to the diagnosis and treatment of mixed features in adults with mood disorders.

PubMed

McIntyre, Roger S; Lee, Yena; Mansur, Rodrigo B

2016-12-01

Mixed features specifier (MFS) is a new nosological entity defined and operationalized in the Diagnostic and Statistical Manual of Mental Disorders (DSM), 5th Edition. The impetus to introduce the MFS and supplant mixed states was protean, including the lack of ecological validity, high rates of misdiagnosis, and guideline discordant treatment for mixed states. Mixed features specifier identifies a phenotype in psychiatry with greater illness burden, as evidenced by earlier age at onset, higher episode frequency and chronicity, psychiatric and medical comorbidity, suicidality, and suboptimal response to conventional antidepressants. Mixed features in psychiatry have historical, conceptual, and nosological relevance; MFS according to DSM-5, is inherently neo-Kraepelinian insofar as individuals with either Major Depressive Disorder (MDD) or Bipolar Disorder (BD) may be affected by MFS. Clinicians are encouraged to screen all patients presenting with a major depressive episode (or hypomanic episode) for MFS. Although "overlapping symptoms" were excluded from the diagnostic criteria (eg, agitation, anxiety, irritability, insomnia), clinicians are encouraged to probe for these nonspecific symptoms as a possible proxy of co-existing MFS. In addition to conventional antidepressants, second generation antipsychotics and/or conventional mood stabilizers (eg, lithium) may be considered as first-line therapies for individuals with a depressive episode as part of MDD or BD with mixed features.

Gene-environment interactions and construct validity in preclinical models of psychiatric disorders.

PubMed

Burrows, Emma L; McOmish, Caitlin E; Hannan, Anthony J

2011-08-01

The contributions of genetic risk factors to susceptibility for brain disorders are often so closely intertwined with environmental factors that studying genes in isolation cannot provide the full picture of pathogenesis. With recent advances in our understanding of psychiatric genetics and environmental modifiers we are now in a position to develop more accurate animal models of psychiatric disorders which exemplify the complex interaction of genes and environment. Here, we consider some of the insights that have emerged from studying the relationship between defined genetic alterations and environmental factors in rodent models. A key issue in such animal models is the optimization of construct validity, at both genetic and environmental levels. Standard housing of laboratory mice and rats generally includes ad libitum food access and limited opportunity for physical exercise, leading to metabolic dysfunction under control conditions, and thus reducing validity of animal models with respect to clinical populations. A related issue, of specific relevance to neuroscientists, is that most standard-housed rodents have limited opportunity for sensory and cognitive stimulation, which in turn provides reduced incentive for complex motor activity. Decades of research using environmental enrichment has demonstrated beneficial effects on brain and behavior in both wild-type and genetically modified rodent models, relative to standard-housed littermate controls. One interpretation of such studies is that environmentally enriched animals more closely approximate average human levels of cognitive and sensorimotor stimulation, whereas the standard housing currently used in most laboratories models a more sedentary state of reduced mental and physical activity and abnormal stress levels. The use of such standard housing as a single environmental variable may limit the capacity for preclinical models to translate into successful clinical trials. Therefore, there is a need to optimize 'environmental construct validity' in animal models, while maintaining comparability between laboratories, so as to ensure optimal scientific and medical outcomes. Utilizing more sophisticated models to elucidate the relative contributions of genetic and environmental factors will allow for improved construct, face and predictive validity, thus facilitating the identification of novel therapeutic targets. Copyright © 2010 Elsevier Inc. All rights reserved.

SKA2 Methylation is associated with Decreased Prefrontal Cortical Thickness and Greater PTSD Severity among Trauma-Exposed Veterans

PubMed Central

Sadeh, Naomi; Spielberg, Jeffrey M.; Logue, Mark W.; Wolf, Erika J.; Smith, Alicia K.; Lusk, Joanna; Hayes, Jasmeet P.; Sperbeck, Emily; Milberg, William P.; McGlinchey, Regina E.; Salat, David H.; Carter, Weleetka C.; Stone, Annjanette; Schichman, Steven A.; Humphries, Donald E.; Miller, Mark W.

2015-01-01

Methylation of the SKA2 gene has recently been identified as a promising biomarker of suicide risk. Based on this finding, we examined associations between SKA2 methylation, cortical thickness, and psychiatric phenotypes linked to suicide in trauma-exposed veterans. 200 trauma-exposed white non-Hispanic veterans of the recent conflicts in Iraq and Afghanistan (91% male) underwent clinical assessment and had blood drawn for genotyping and methylation analysis. 145 participants also had neuroimaging data available. Based on previous research, we examined DNA methylation at the CpG locus cg13989295 as well as DNA methylation adjusted for genotype at the methylation-associated SNP (rs7208505) in relationship to whole-brain cortical thickness, posttraumatic stress disorder symptoms (PTSD), and depression symptoms. Whole-brain vertex-wise analyses identified three clusters in prefrontal cortex that were associated with genotype-adjusted SKA2 DNA methylation (methylationadj). Specifically, DNA methylationadj was associated with bilateral reductions of cortical thickness in frontal pole and superior frontal gyrus, and similar effects were found in the right orbitofrontal cortex and right inferior frontal gyrus. PTSD symptom severity was positively correlated with SKA2 DNA methylationadj and negatively correlated with cortical thickness in these regions. Mediation analyses showed a significant indirect effect of PTSD on cortical thickness via SKA2 methylation status. Results suggest that DNA methylationadj of SKA2 in blood indexes stress-related psychiatric phenotypes and neurobiology, pointing to its potential value as a biomarker of stress exposure and susceptibility. PMID:26324104

Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.

PubMed

Joslyn, Geoff; Brush, Gerry; Robertson, Margaret; Smith, Tom L; Kalmijn, Jelger; Schuckit, Marc; White, Raymond L

2008-12-23

As with other genetically complex common psychiatric and medical conditions, multiple genetic and environmental components contribute to alcohol use disorders (AUDs), which can confound attempts to identify genetic components. Intermediate phenotypes are often more closely correlated with underlying biology and have often proven invaluable in genetic studies. Level of response (LR) to alcohol is an intermediate phenotype for AUDs, and individuals with a low LR are at increased risk. A high rate of concurrent alcohol and nicotine use and dependence suggests that these conditions may share biochemical and genetic mechanisms. Genetic association studies indicate that a genetic locus, which includes the CHRNA5-CHRNA3-CHRNB4 gene cluster, plays a role in nicotine consumption and dependence. Genetic association with alcohol dependence was also recently shown. We show here that two of the markers from the nicotine studies also show an association (multiple testing corrected P < 0.025) with several LR phenotypes in a sample of 367 siblings. Additional markers in the region were analyzed and shown to be located in a 250-kb expanse of high linkage disequilibrium containing three additional genes. These findings indicate that LR intermediate phenotypes have utility in genetic approaches to AUDs and will prove valuable in the identification of other genetic loci conferring susceptibility to AUDs.

Fisher's geometrical model emerges as a property of complex integrated phenotypic networks.

PubMed

Martin, Guillaume

2014-05-01

Models relating phenotype space to fitness (phenotype-fitness landscapes) have seen important developments recently. They can roughly be divided into mechanistic models (e.g., metabolic networks) and more heuristic models like Fisher's geometrical model. Each has its own drawbacks, but both yield testable predictions on how the context (genomic background or environment) affects the distribution of mutation effects on fitness and thus adaptation. Both have received some empirical validation. This article aims at bridging the gap between these approaches. A derivation of the Fisher model "from first principles" is proposed, where the basic assumptions emerge from a more general model, inspired by mechanistic networks. I start from a general phenotypic network relating unspecified phenotypic traits and fitness. A limited set of qualitative assumptions is then imposed, mostly corresponding to known features of phenotypic networks: a large set of traits is pleiotropically affected by mutations and determines a much smaller set of traits under optimizing selection. Otherwise, the model remains fairly general regarding the phenotypic processes involved or the distribution of mutation effects affecting the network. A statistical treatment and a local approximation close to a fitness optimum yield a landscape that is effectively the isotropic Fisher model or its extension with a single dominant phenotypic direction. The fit of the resulting alternative distributions is illustrated in an empirical data set. These results bear implications on the validity of Fisher's model's assumptions and on which features of mutation fitness effects may vary (or not) across genomic or environmental contexts.

Inpatient treatment of major depression in Austria between 1989 and 2009: impact of downsizing of psychiatric hospitals on admissions, suicide rates and outpatient psychiatric services.

PubMed

Vyssoki, B; Willeit, M; Blüml, V; Höfer, P; Erfurth, A; Psota, G; Lesch, O M; Kapusta, N D

2011-09-01

During the last 20 years Austrian psychiatric services underwent fundamental changes, as a focus was set on downsizing psychiatric hospitals. Little is known about how restructuring of mental health services affected patients with major depression and suicide rates. Monthly hospital discharges from all hospitals in Austria with the diagnosis of unipolar major depression as primary reason for inpatient treatment were obtained for the time period between 1989 and 2008. These data were correlated with relevant parameters from the general health system, such as number of hospital beds, suicide rate, density of psychotherapists and sales of antidepressants. While the number of psychiatric beds was reduced by almost 30%, the total annual numbers of inpatient treatment episodes for depression increased by 360%. This increase was stronger for men than for women. Further on this development was accompanied by a decrease in the suicide rate and an improvement in the availability of professional outpatient mental health service providers. Only aggregated patient data and no single case histories were available for this study. The validity of the correct diagnosis of unipolar major depression must be doubted, as most likely not all patients were seen by a clinical expert. Our data show that although inpatient treatment for unipolar major depression dramatically increased, reduction of psychiatric beds did not lead to an increase of suicide rates. Copyright © 2011 Elsevier B.V. All rights reserved.

Preschool psychiatric disorders: homotypic and heterotypic continuity through middle childhood and early adolescence.

PubMed

Finsaas, Megan C; Bufferd, Sara J; Dougherty, Lea R; Carlson, Gabrielle A; Klein, Daniel N

2018-01-16

Many preschool-age children meet criteria for psychiatric disorders, and rates approach those observed in later childhood and adolescence. However, there is a paucity of longitudinal research examining the outcomes of preschool diagnoses. Families with a 3-year-old child (N = 559) were recruited from the community. Primary caregivers were interviewed using the Preschool Age Psychiatric Assessment when children were 3 years old (n = 541), and, along with children, using the Schedule for Affective Disorders and Schizophrenia for School-Age Children Present and Lifetime Version when children were 9 and 12 years old. Rates of disruptive behavior disorders (DBD) decreased from preschool to middle childhood and early adolescence, whereas rates of attention-deficit/hyperactivity disorder (ADHD) increased. Rates of any psychiatric disorder and depression increased from preschool to early adolescence only. Preschoolers with a diagnosis were over twice as likely to have a diagnosis during later periods. Homotypic continuity was present for anxiety disorders from preschool to middle childhood, for ADHD from preschool to early adolescence, and for DBD through both later time points. There was heterotypic continuity between preschool anxiety and early adolescent depression, and between preschool ADHD and early adolescent DBD. Dimensional symptom scores showed homotypic continuity for all diagnostic categories and showed a number of heterotypic associations as well. Results provide moderate support for the predictive validity of psychiatric disorders in preschoolers. Psychopathology in preschool is a significant risk factor for future psychiatric disorders during middle childhood and early adolescence.

Validation of the Arabic Version of the Internet Gaming Disorder-20 Test.

PubMed

Hawi, Nazir S; Samaha, Maya

2017-04-01

In recent years, researchers have been trying to shed light on gaming addiction and its association with different psychiatric disorders and psychological determinants. The latest edition version of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) included in its Section 3 Internet Gaming Disorder (IGD) as a condition for further empirical study and proposed nine criteria for the diagnosis of IGD. The 20-item Internet Gaming Disorder (IGD-20) Test was developed as a valid and reliable tool to assess gaming addiction based on the nine criteria set by the DSM-5. The aim of this study is to validate an Arabic version of the IGD-20 Test. The Arabic version of IGD-20 will not only help in identifying Arabic-speaking pathological gamers but also stimulate cross-cultural studies that could contribute to an area in need of more research for insight and treatment. After a process of translation and back-translation and with the participation of a sizable sample of Arabic-speaking adolescents, the present study conducted a psychometric validation of the IGD-20 Test. Our confirmatory factor analysis showed the validity of the Arabic version of the IGD-20 Test. The one-factor model of the Arabic IGD-20 Test had very good psychometric properties, and it fitted the sample data extremely well. In addition, correlation analysis between the IGD-20 Test and the daily duration on weekdays and weekends gameplay revealed significant positive relationships that warranted a criterion-related validation. Thus, the Arabic version of the IGD-20 Test is a valid and reliable measure of IGD among Arabic-speaking populations.

Psychometric properties of the Spanish version of the Philadelphia Mindfulness Scale.

PubMed

Tejedor, Rosa; Feliu-Soler, Albert; Pascual, Juan C; Cebolla, Ausiàs; Portella, Maria J; Trujols, Joan; Soriano, José; Pérez, Víctor; Soler, Joaquim

2014-01-01

The Philadelphia Mindfulness Scale (PHLMS) is a brief questionnaire for assessing 2 key components of mindfulness: present moment awareness, and acceptance. This study was aimed at evaluating the psychometric properties of the Spanish version of PHLMS in a sample of participants with and without psychiatric conditions. The Spanish version of the PHLMS was administered to a sample of 395 volunteers (256 of them with a psychiatric condition, and 130 from a student sample). Exploratory factor analysis found a two factor solution, which was also observed in the original version of the scale, with an explained variance of 44.02%. The scale showed good reliability (Cronbach α between 0.81 and 0.86), and an adequate convergent validity with other questionnaires of mindfulness and acceptance. The results also showed a similar discriminant validity to that in the original instrument validation between PHLMS and the clinical symptomatology reported. The Spanish version of the PHLMS is a psychometrically sound measure for assessing two core components of mindfulness (i.e. awareness and acceptance) in clinical and research settings. Copyright © 2014 SEP y SEPB. Published by Elsevier España. All rights reserved.

A crash course in Chinese herbology for the psychopharmocological prescriber.

PubMed

White, Kathryn P

2009-12-01

Given the unparalleled popularity of botanicals in the United States, it is safe to say that almost every psychopharmacological prescriber will see some patients using Chinese herbs. Data show that between 36% and 42% of Americans use complementary and alternative medicine (CAM) each year and that persons suffering from depression and anxiety (67%) use CAM services significantly more than do their nonanxious and nondepressed counterparts (39%). This article gives an overview of several classical Chinese medical single herbs and herbal formulas commonly used for persons with psychiatric disorders and discusses some of the herbs that have the potential to interact with various pharmaceutical drugs. In addition, the article reviews scientific evidence and, at times, the lack thereof to validate the use of Chinese herbs and formulas in treating psychiatric conditions. Overall, the article seeks to prepare the pharmacological prescriber for working with patients concomitantly taking psychiatric medications and Chinese herbs.

[Validity of the existentialist approach in psychiatry].

PubMed

Dramisino, Hugo

2013-01-01

One essential premise of this revision work is to raise the impossibility of psychiatric action without a solid psychotherapeutic attitude. And before this position is the existentialist approach as an interesting possibility to consolidate the psychiatric clinic; a clinic which should not lose sight of the old Socratic ideal of applying philosophy to understand daily life and not be trapped in the modest role of prescribing drugs according to the "cartography" of diagnostic manuals. Existentialist psychotherapeutic trends add the spiritual instance to the traditional approach of the bio-psycho-social framework that tries to account for the human condition. In this work, another framework is proposed: bio-psycho-social (de-programmed)-mortal. On this existentialist conception, two essential aspects of philosophy and psychiatric clinic are emphasized: freedom and death. Finally, a type of classification that delimits two existential psychotherapeutic postures is proposed: one which is identified as existential dynamic psychotherapy, and another one, as existential psychoanalytic psychotherapy.

Ataques de nervios in the Puerto Rican Diagnostic Interview Schedule: the impact of cultural categories on psychiatric epidemiology.

PubMed

Guarnaccia, P J; Rubio-Stipec, M; Canino, G

1989-09-01

This paper examines the effect of the cultural category ataques de nervios on responses to the Puerto Rican Diagnostic Interview Schedule (DIS), a Spanish version of structured psychiatric diagnostic interview developed for the NIMH Epidemiologic Catchment Area study. An ataque de nervios scale was created from the Somatization items of the DIS to explore the effect of this culturally meaningful category of distress on responses to a standard psychiatric interview. Analysis of 1,513 cases from a representative sample of the island of Puerto Rico indicated that people reporting ataque symptoms fit the social characteristics described for ataques sufferers in the ethnographic literature. Qualitative data indicated that Puerto Ricans were reporting ataques de nervios in the panic section of the DIS. Questions are raised about the validity of the somatization and panic sections of the DIS in cross-cultural research with Hispanics.

Can we use mice to study schizophrenia?

PubMed

Canetta, Sarah; Kellendonk, Christoph

2018-03-19

The validity of rodent models for the study of psychiatric disorders is controversial. Despite great efforts from academic institutions and pharmaceutical companies, as of today, no major therapeutic intervention has been developed for the treatment of psychiatric disorders based on mechanistic insights from rodent models. Here, we argue that despite these historical shortcomings, rodent studies are nevertheless instrumental for identifying neuronal circuit mechanisms underlying behaviours that are affected in psychiatric disorders. Focusing on schizophrenia, we will give four examples of rodent models that were generated based on genetic and environmental risk factors or pathophysiological evidence as entry points. We will then discuss how circuit analysis in these specific examples can be used for testing hypotheses about neuronal mechanisms underlying symptoms of schizophrenia, which will then guide the development of new therapies.This article is part of a discussion meeting issue 'Of mice and mental health: facilitating dialogue between basic and clinical neuroscientists'. © 2018 The Author(s).

Assessing the heterogeneity of aggressive behavior traits: exploratory and confirmatory analyses of the reactive and instrumental aggression Personality Assessment Inventory (PAI) scales.

PubMed

Antonius, Daniel; Sinclair, Samuel Justin; Shiva, Andrew A; Messinger, Julie W; Maile, Jordan; Siefert, Caleb J; Belfi, Brian; Malaspina, Dolores; Blais, Mark A

2013-01-01

The heterogeneity of violent behavior is often overlooked in risk assessment despite its importance in the management and treatment of psychiatric and forensic patients. In this study, items from the Personality Assessment Inventory (PAI) were first evaluated and rated by experts in terms of how well they assessed personality features associated with reactive and instrumental aggression. Exploratory principal component analyses (PCA) were then conducted on select items using a sample of psychiatric and forensic inpatients (n = 479) to examine the latent structure and construct validity of these reactive and instrumental aggression factors. Finally, a confirmatory factor analysis (CFA) was conducted on a separate sample of psychiatric inpatients (n = 503) to evaluate whether these factors yielded acceptable model fit. Overall, the exploratory and confirmatory analyses supported the existence of two latent PAI factor structures, which delineate personality traits related to reactive and instrumental aggression.

Randomized Trial of Interpersonal Psychotherapy and Cognitive Behavioral Therapy for Major Depressive Disorder in a Community-Based Psychiatric Outpatient Clinic.

PubMed

Ekeblad, Annika; Falkenström, Fredrik; Andersson, Gerhard; Vestberg, Robert; Holmqvist, Rolf

2016-12-01

Interpersonal psychotherapy (IPT) and cognitive behavioral therapy (CBT) are both evidence-based treatments for major depressive disorder (MDD). Several head-to-head comparisons have been made, mostly in the United States. In this trial, we compared the two treatments in a small-town outpatient psychiatric clinic in Sweden. The patients had failed previous primary care treatment and had extensive Axis-II comorbidity. Outcome measures were reduction of depressive symptoms and attrition rate. Ninety-six psychiatric patients with MDD (DSM-IV) were randomized to 14 sessions of CBT (n = 48) or IPT (n = 48). A noninferiority design was used with the hypothesis that IPT would be noninferior to CBT. A three-point difference on the Beck Depression Inventory-II (BDI-II) was used as noninferiority margin. IPT passed the noninferiority test. In the ITT group, 53.5% (23/43) of the IPT patients and 51.0% (24/47) of the CBT patients were reliably improved, and 20.9% (9/43) and 19.1% (9/47), respectively, were recovered (last BDI score <10). The dropout rate was significantly higher in CBT (40%; 19/47) compared to IPT (19%; 8/43). Statistically controlling for antidepressant medication use did not change the results. IPT was noninferior to CBT in a sample of depressed psychiatric patients in a community-based outpatient clinic. CBT had significantly more dropouts than IPT, indicating that CBT may be experienced as too demanding. Since about half the patients did not recover, there is a need for further treatment development for these patients. The study should be considered an effectiveness trial, with strong external validity but some limitations in internal validity. © 2016 Wiley Periodicals, Inc.

The six most essential questions in psychiatric diagnosis: A pluralogue part 2: Issues of conservatism and pragmatism in psychiatric diagnosis

PubMed Central

2012-01-01

In face of the multiple controversies surrounding the DSM process in general and the development of DSM-5 in particular, we have organized a discussion around what we consider six essential questions in further work on the DSM. The six questions involve: 1) the nature of a mental disorder; 2) the definition of mental disorder; 3) the issue of whether, in the current state of psychiatric science, DSM-5 should assume a cautious, conservative posture or an assertive, transformative posture; 4) the role of pragmatic considerations in the construction of DSM-5; 5) the issue of utility of the DSM – whether DSM-III and IV have been designed more for clinicians or researchers, and how this conflict should be dealt with in the new manual; and 6) the possibility and advisability, given all the problems with DSM-III and IV, of designing a different diagnostic system. Part I of this article took up the first two questions. Part II will take up the second two questions. Question 3 deals with the question as to whether DSM-V should assume a conservative or assertive posture in making changes from DSM-IV. That question in turn breaks down into discussion of diagnoses that depend on, and aim toward, empirical, scientific validation, and diagnoses that are more value-laden and less amenable to scientific validation. Question 4 takes up the role of pragmatic consideration in a psychiatric nosology, whether the purely empirical considerations need to be tempered by considerations of practical consequence. As in Part 1 of this article, the general introduction, as well as the introductions and conclusions for the specific questions, are written by James Phillips, and the responses to commentaries are written by Allen Frances. PMID:22512887

Social defeat interacts with Disc1 mutations in the mouse to affect behavior.

PubMed

Haque, F Nipa; Lipina, Tatiana V; Roder, John C; Wong, Albert H C

2012-08-01

DISC1 (Disrupted-in-schizophrenia 1) is a strong candidate susceptibility gene for psychiatric disease that was originally discovered in a family with a chromosomal translocation severing this gene. Although the family members with the translocation had an identical genetic mutation, their clinical diagnosis and presentation varied significantly. Gene-environment interactions have been proposed as a mechanism underlying the complex heritability and variable phenotype of psychiatric disorders such as major depressive disorder and schizophrenia. We hypothesized that gene-environment interactions would affect behavior in a mutant Disc1 mouse model. We examined the effect of chronic social defeat (CSD) as an environmental stressor in two lines of mice carrying different Disc1 point mutations, on behaviors relevant to psychiatric illness: locomotion in a novel open field (OF), pre-pulse inhibition (PPI) of the acoustic startle response, latent inhibition (LI), elevated plus maze (EPM), forced swim test (FST), sucrose consumption (SC), and the social interaction task for sociability and social novelty (SSN). We found that Disc1-L100P +/- and wild-type mice have similar anxiety responses to CSD, while Q31L +/- mice had a very different response. We also found evidence of significant gene-environment interactions in the OF, EPM and SSN. Copyright © 2012 Elsevier B.V. All rights reserved.

Molecular approaches to child psychopathology.

PubMed

Alsobrook, J P; Pauls, D L

1998-04-01

Basic research into the genetics of childhood psychiatric disorders has substantially increased during the last two decades. Specific genetic mutations have been characterized in some developmental disorders (e.g., fragile X syndrome and Prader-Willi syndrome), but thus far identification of etiological gene mutations in psychiatric illnesses has been unsuccessful. Several psychiatric disorders serve as examples of the current state of molecular approaches in child psychopathology. Investigations to date of Gilles de la Tourette's syndrome (GTS) have not resulted in the discovery of a gene of major effect. Some studies have implicated the D2 and D4 dopamine receptors as having a direct role in the etiology of GTS, but other studies have disputed those findings. However, the dopamine D2 receptor may modulate the severity of GTS. Obsessive-compulsive disorder has a reported association with a low-activity allele of the enzyme catechol-O-methyltransferase; however, the low-activity genotype is also seen in a significant proportion of unaffected individuals. For reading disability two distinct phenotypes (phonological awareness and single-word reading) have been linked to separate loci on chromosomes 6 and 15. Attention deficit hyperactivity disorder (ADHD) has a reported association with the dopamine transporter. Findings of a genetic locus for the personality trait of novelty seeking remain controversial.

Initial Construction and Validation of the Pathological Narcissism Inventory

ERIC Educational Resources Information Center

Pincus, Aaron L.; Ansell, Emily B.; Pimentel, Claudia A.; Cain, Nicole M.; Wright, Aidan G. C.; Levy, Kenneth N.

2009-01-01

The construct of narcissism is inconsistently defined across clinical theory, social-personality psychology, and psychiatric diagnosis. Two problems were identified that impede integration of research and clinical findings regarding narcissistic personality pathology: (a) ambiguity regarding the assessment of pathological narcissism vs. normal…

Genome-wide significant loci for addiction and anxiety.

PubMed

Hodgson, K; Almasy, L; Knowles, E E M; Kent, J W; Curran, J E; Dyer, T D; Göring, H H H; Olvera, R L; Fox, P T; Pearlson, G D; Krystal, J H; Duggirala, R; Blangero, J; Glahn, D C

2016-08-01

Psychiatric comorbidity is common among individuals with addictive disorders, with patients frequently suffering from anxiety disorders. While the genetic architecture of comorbid addictive and anxiety disorders remains unclear, elucidating the genes involved could provide important insights into the underlying etiology. Here we examine a sample of 1284 Mexican-Americans from randomly selected extended pedigrees. Variance decomposition methods were used to examine the role of genetics in addiction phenotypes (lifetime history of alcohol dependence, drug dependence or chronic smoking) and various forms of clinically relevant anxiety. Genome-wide univariate and bivariate linkage scans were conducted to localize the chromosomal regions influencing these traits. Addiction phenotypes and anxiety were shown to be heritable and univariate genome-wide linkage scans revealed significant quantitative trait loci for drug dependence (14q13.2-q21.2, LOD=3.322) and a broad anxiety phenotype (12q24.32-q24.33, LOD=2.918). Significant positive genetic correlations were observed between anxiety and each of the addiction subtypes (ρg=0.550-0.655) and further investigation with bivariate linkage analyses identified significant pleiotropic signals for alcohol dependence-anxiety (9q33.1-q33.2, LOD=3.054) and drug dependence-anxiety (18p11.23-p11.22, LOD=3.425). This study confirms the shared genetic underpinnings of addiction and anxiety and identifies genomic loci involved in the etiology of these comorbid disorders. The linkage signal for anxiety on 12q24 spans the location of TMEM132D, an emerging gene of interest from previous GWAS of anxiety traits, whilst the bivariate linkage signal identified for anxiety-alcohol on 9q33 peak coincides with a region where rare CNVs have been associated with psychiatric disorders. Other signals identified implicate novel regions of the genome in addiction genetics. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Assessing Parenting Capacity in Psychiatric Mother and Baby Units: A case report and review of literature.

PubMed

Hammond, Julie; Lipsedge, Maurice

2015-09-01

This review aimed to improve infant risk assessments in the context of maternal mental illness by identifying key predictors of poor parenting outcomes. Inadequate parenting as a result of severe and persistent mental illness is a common reason for courts terminating parental rights. However, the current practice of parenting capacity assessments in the setting of perinatal psychiatry is fraught with risks and uncertainty. A well-recognised flaw in the assessment process is the lack of valid and reliable tools that have been specifically validated for assessing parenting capacity in mothers with a history of mental illness and the potential risk of harm to their infant. To date, there is only one instrument available. A systematic search of Medline, PsycInfo and Embase via the Ovid interface was conducted between September and December 2014. Citation snowball sampling was also used to identify further relevant studies. An additional search was performed in Google to access grey literature. A total of 38 citations were identified, of which 8 publications focusing on the populations of England, France and Belgium met the eligibility criteria of this review. Evidence from existing research suggests that poor parenting outcomes in maternal psychiatric illness are strongly associated with correlates of socio-economic inequalities. However, evidence regarding the long-term implications of such factors is weak as only one follow up study and no longitudinal studies were identified in this review. Our review suggests that the use of standardised empirically validated risk assessment tools would benefit the current practice of parenting assessments by improving the process by which collected information is analysed. This would enhance the accuracy of decision-making, and improve the safeguarding of the infant. Further research is needed on medium to long-term parenting outcomes, particularly regarding its relations to: the type of maternal psychiatric disorder; the quality of maternal relationships; previous attachment experience; psychiatric illness or behavioural disorder in the partner and neonatal/infant medical complications. This would more accurately reflect the dynamic nature of parenting and would help to determine the effectiveness of specific interventions addressing risk factors associated with poor parenting outcomes.

Development and psychometrics of the five item daily index in a psychiatric sample.

PubMed

Dyer, Kale; Hooke, Geoff; Page, Andrew C

2014-01-01

Effective treatment of affective disorders requires the ability to reliably monitor patient progress and outcome. The current study aimed to establish the Daily Index-5 (DI-5) as a psychometrically sound and clinically valid measure of treatment response in psychiatric care for use as a companion measure with the WHO Wellbeing Index (WHO-5; Bech et al., 1996. Psychother. Psychosom. 65, 183-190.). Eight hundred and ninety four consecutive inpatients and day-patients at a psychiatric facility completed the DI-5, WHO-5, SF-36 (Ware et al., 1993. SF-36 Health Survey: Manual and Interpretation Guide. The Health Institute, New England Medical Centre, Boston, MA.) and DASS-21 (Lovibond and Lovibond, 1995b. Manual for the Depression Anxiety Stress Scales. Psychology Foundation, Sydney, Australia.; Ware et al., 1993. SF-36 Health Survey: Manual and Interpretation Guide. The Health Institute, New England Medical Centre, Boston, MA.) routinely during treatment. The DI-5 was shown to be a measure with high reliability and validity. In addition criteria for clinically significant recovery are presented with an example implementation of a Clinical Significance Monitoring system. Finally, the latent structure of the DI-5 is established as a uni-dimensional index of affective disorder. The results may be generalized to samples with primary diagnoses of depressive and/or anxiety disorders though assessment of the DI-5 as a measure of treatment response is warranted in patients with other primary diagnoses. The current study indicates that the DI-5 is a quick to administer and interpret, reliable and valid measure for assessing patient outcome that is appropriate for use in monitoring patient change. © 2013 Published by Elsevier B.V.

Korean version of the delirium rating scale-revised-98: reliability and validity.

PubMed

Lee, Yanghyun; Ryu, Jian; Lee, Jinyoung; Kim, Hwi-Jung; Shin, Im Hee; Kim, Jeong-Lan; Trzepacz, Paula T

2011-03-01

The aims of the present study were 1) to standardize the validity and reliability of the Korean version of Delirium Rating Scale-Revised-98 (DRS-R98-K) and 2) to establish the optimum cut-off value, sensitivity, and specificity for discriminating delirium from other non-delirious psychiatric conditions. Using DSM-IV criteria, 157 subjects (69 delirium, 29 dementia, 32 schizophrenia, and 27 other psychiatric patients) were enrolled. Subjects were evaluated using DRS-R98-K, DRS-K, Mini-Mental State Examination (MMSE-K), and Clinical Global Impression-Severity (CGI-S) scale. DRS-R98-K total and severity scores showed high correlations with DRS-K. They were significantly different across all groups (p=0.000). However, neither MMSE-K nor CGI-S distinguished delirium from dementia. All DRS-R98-K diagnostic items (#14-16) and items #1 and 2 significantly discriminated delirium from dementia. Cronbach's alpha coefficient revealed high internal consistency for DRS-R98-K total (r=0.91) and severity (r=0.89) scales. Interrater reliability (ICC between 0.96 and 1) was very high. Using receiver operating characteristic analysis, the area under the curve of DRS-R98-K total score was 0.948 between the delirium group and all other groups and 0.873 between the delirium and dementia groups. The best cut-off scores in DRS-R98-K total score were 18.5 and 19.5 between the delirium and the other three groups and 20.5 between the delirium and dementia groups. We demonstrated that DRS-R98-K is a valid and reliable instrument for assessing delirium severity and diagnosis and discriminating delirium from dementia and other psychiatric disorders in Korean patients.

Reliability, validity, and clinical use of the Dominic Interactive: a DSM-based, self-report screen for school-aged children.

PubMed

Bergeron, Lise; Berthiaume, Claude; St-Georges, Marie; Piché, Geneviève; Smolla, Nicole

2013-08-01

As no single informant can be considered the gold standard of child psychopathology, interviewing of children regarding their own symptoms is necessary. Our study focused on the reliability, validity, and clinical use of the Dominic Interactive (DI), a multimedia self-report screen to assess symptoms for the most frequent Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, mental disorders in school-aged children. A sample of 585 children aged 6 to 11 years from the community and psychiatric clinics was used to analyze the internal consistency, the test-retest estimate of reliability, and the criterion-related validity of the DI against the referral status. In addition, cross-informant correlation coefficients between this instrument (child report) and the Child Symptom Inventory (parent report) were explored in a subsample of 292 participants. For the total sample, Cronbach alpha coefficients ranged from 0.63 to 0.91. Test-retest kappas varied from 0.42 to 0.62 for categories based on cut-off points, except for specific phobias. Intraclass correlation coefficients ranged from 0.70 to 0.81 for symptom scales. The DI discriminated between referred and non-referred children in psychiatric clinics for all symptom scales. Significant cross-informant correlation coefficients were higher for the externalizing symptoms (0.35 to 0.48) than the internalizing symptoms (0.14 to 0.27). Findings of our study reasonably support adequate psychometric properties of the DI. This instrument offers a developmentally sensitive screening method to obtain unique information from young children about their mental health problems in front-line services, psychiatric clinics, and research settings.

A comparison of the criterion validity of popular measures of narcissism and narcissistic personality disorder via the use of expert ratings.

PubMed

Miller, Joshua D; McCain, Jessica; Lynam, Donald R; Few, Lauren R; Gentile, Brittany; MacKillop, James; Campbell, W Keith

2014-09-01

The growing interest in the study of narcissism has resulted in the development of a number of assessment instruments that manifest only modest to moderate convergence. The present studies adjudicate among these measures with regard to criterion validity. In the 1st study, we compared multiple narcissism measures to expert consensus ratings of the personality traits associated with narcissistic personality disorder (NPD; Study 1; N = 98 community participants receiving psychological/psychiatric treatment) according to the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM-IV-TR; American Psychiatric Association, 2000) using 5-factor model traits as well as the traits associated with the pathological trait model according to the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; American Psychiatric Association, 2013). In Study 2 (N = 274 undergraduates), we tested the criterion validity of an even larger set of narcissism instruments by examining their relations with measures of general and pathological personality, as well as psychopathology, and compared the resultant correlations to the correlations expected by experts for measures of grandiose and vulnerable narcissism. Across studies, the grandiose dimensions from the Five-Factor Narcissism Inventory (FFNI; Glover, Miller, Lynam, Crego, & Widiger, 2012) and the Narcissistic Personality Inventory (Raskin & Terry, 1988) provided the strongest match to expert ratings of DSM-IV-TR NPD and grandiose narcissism, whereas the vulnerable dimensions of the FFNI and the Pathological Narcissism Inventory (Pincus et al., 2009), as well as the Hypersensitive Narcissism Scale (Hendin & Cheek, 1997), provided the best match to expert ratings of vulnerable narcissism. These results should help guide researchers toward the selection of narcissism instruments that are most well suited to capturing different aspects of narcissism. PsycINFO Database Record (c) 2014 APA, all rights reserved.

External validity of a hierarchical dimensional model of child and adolescent psychopathology: Tests using confirmatory factor analyses and multivariate behavior genetic analyses.

PubMed

Waldman, Irwin D; Poore, Holly E; van Hulle, Carol; Rathouz, Paul J; Lahey, Benjamin B

2016-11-01

Several recent studies of the hierarchical phenotypic structure of psychopathology have identified a General psychopathology factor in addition to the more expected specific Externalizing and Internalizing dimensions in both youth and adult samples and some have found relevant unique external correlates of this General factor. We used data from 1,568 twin pairs (599 MZ & 969 DZ) age 9 to 17 to test hypotheses for the underlying structure of youth psychopathology and the external validity of the higher-order factors. Psychopathology symptoms were assessed via structured interviews of caretakers and youth. We conducted phenotypic analyses of competing structural models using Confirmatory Factor Analysis and used Structural Equation Modeling and multivariate behavior genetic analyses to understand the etiology of the higher-order factors and their external validity. We found that both a General factor and specific Externalizing and Internalizing dimensions are necessary for characterizing youth psychopathology at both the phenotypic and etiologic levels, and that the 3 higher-order factors differed substantially in the magnitudes of their underlying genetic and environmental influences. Phenotypically, the specific Externalizing and Internalizing dimensions were slightly negatively correlated when a General factor was included, which reflected a significant inverse correlation between the nonshared environmental (but not genetic) influences on Internalizing and Externalizing. We estimated heritability of the general factor of psychopathology for the first time. Its moderate heritability suggests that it is not merely an artifact of measurement error but a valid construct. The General, Externalizing, and Internalizing factors differed in their relations with 3 external validity criteria: mother's smoking during pregnancy, parent's harsh discipline, and the youth's association with delinquent peers. Multivariate behavior genetic analyses supported the external validity of the 3 higher-order factors by suggesting that the General, Externalizing, and Internalizing factors were correlated with peer delinquency and parent's harsh discipline for different etiologic reasons. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Identification and validation of asthma phenotypes in Chinese population using cluster analysis.

PubMed

Wang, Lei; Liang, Rui; Zhou, Ting; Zheng, Jing; Liang, Bing Miao; Zhang, Hong Ping; Luo, Feng Ming; Gibson, Peter G; Wang, Gang

2017-10-01

Asthma is a heterogeneous airway disease, so it is crucial to clearly identify clinical phenotypes to achieve better asthma management. To identify and prospectively validate asthma clusters in a Chinese population. Two hundred eighty-four patients were consecutively recruited and 18 sociodemographic and clinical variables were collected. Hierarchical cluster analysis was performed by the Ward method followed by k-means cluster analysis. Then, a prospective 12-month cohort study was used to validate the identified clusters. Five clusters were successfully identified. Clusters 1 (n = 71) and 3 (n = 81) were mild asthma phenotypes with slight airway obstruction and low exacerbation risk, but with a sex differential. Cluster 2 (n = 65) described an "allergic" phenotype, cluster 4 (n = 33) featured a "fixed airflow limitation" phenotype with smoking, and cluster 5 (n = 34) was a "low socioeconomic status" phenotype. Patients in clusters 2, 4, and 5 had distinctly lower socioeconomic status and more psychological symptoms. Cluster 2 had a significantly increased risk of exacerbations (risk ratio [RR] 1.13, 95% confidence interval [CI] 1.03-1.25), unplanned visits for asthma (RR 1.98, 95% CI 1.07-3.66), and emergency visits for asthma (RR 7.17, 95% CI 1.26-40.80). Cluster 4 had an increased risk of unplanned visits (RR 2.22, 95% CI 1.02-4.81), and cluster 5 had increased emergency visits (RR 12.72, 95% CI 1.95-69.78). Kaplan-Meier analysis confirmed that cluster grouping was predictive of time to the first asthma exacerbation, unplanned visit, emergency visit, and hospital admission (P < .0001 for all comparisons). We identified 3 clinical clusters as "allergic asthma," "fixed airflow limitation," and "low socioeconomic status" phenotypes that are at high risk of severe asthma exacerbations and that have management implications for clinical practice in developing countries. Copyright © 2017 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Measuring the effect of inter-study variability on estimating prediction error.

PubMed

Ma, Shuyi; Sung, Jaeyun; Magis, Andrew T; Wang, Yuliang; Geman, Donald; Price, Nathan D

2014-01-01

The biomarker discovery field is replete with molecular signatures that have not translated into the clinic despite ostensibly promising performance in predicting disease phenotypes. One widely cited reason is lack of classification consistency, largely due to failure to maintain performance from study to study. This failure is widely attributed to variability in data collected for the same phenotype among disparate studies, due to technical factors unrelated to phenotypes (e.g., laboratory settings resulting in "batch-effects") and non-phenotype-associated biological variation in the underlying populations. These sources of variability persist in new data collection technologies. Here we quantify the impact of these combined "study-effects" on a disease signature's predictive performance by comparing two types of validation methods: ordinary randomized cross-validation (RCV), which extracts random subsets of samples for testing, and inter-study validation (ISV), which excludes an entire study for testing. Whereas RCV hardwires an assumption of training and testing on identically distributed data, this key property is lost in ISV, yielding systematic decreases in performance estimates relative to RCV. Measuring the RCV-ISV difference as a function of number of studies quantifies influence of study-effects on performance. As a case study, we gathered publicly available gene expression data from 1,470 microarray samples of 6 lung phenotypes from 26 independent experimental studies and 769 RNA-seq samples of 2 lung phenotypes from 4 independent studies. We find that the RCV-ISV performance discrepancy is greater in phenotypes with few studies, and that the ISV performance converges toward RCV performance as data from additional studies are incorporated into classification. We show that by examining how fast ISV performance approaches RCV as the number of studies is increased, one can estimate when "sufficient" diversity has been achieved for learning a molecular signature likely to translate without significant loss of accuracy to new clinical settings.

Ecological Momentary Assessment and Smartphone Application Intervention in Adolescents with Substance Use and Comorbid Severe Psychiatric Disorders: Study Protocol.

PubMed

Benarous, Xavier; Edel, Yves; Consoli, Angèle; Brunelle, Julie; Etter, Jean-François; Cohen, David; Khazaal, Yasser

2016-01-01

Substance use disorders (SUDs) are highly prevalent among inpatient adolescents with psychiatric disorders. In this population, substance use and other psychiatric outcomes can reinforce one another. Despite the need for integrated interventions in youths with dual diagnoses, few specific instruments are available. App-based technologies have shown promising results to help reduce substance use in adolescents, but their applicability in youths with associated severe psychiatric disorders is poorly documented. We aim to evaluate the feasibility of an ecological momentary assessment (EMA) intervention for all substance users, and of a smartphone application for cannabis users (Stop-Cannabis), for outpatient treatment after hospital discharge. All inpatient adolescents with psychiatric disorders hospitalized between 2016 and 2018 in a university hospital will be systematically screened for SUD and, if positive, will be assessed by an independent specialist addiction team. Participants with confirmed SUDs will be invited and helped to download an EMA app and, if required, the Stop-Cannabis app, the week preceding hospital discharge. Information about the acceptability and use of both apps and the validity of EMA data in comparison to clinical assessments will be assessed after 6 months and 1 year. This research has been designed to raise specific issues for consideration regarding the sequence between substance use, contextual factors, and other psychiatric symptoms among adolescents with comorbid severe psychiatric disorders. A better understanding of the mechanisms involved will inform the development of integrated treatment for dual disorders at that age. The study has already been approved and granted. Dissemination will include presentations at international congresses as well as publications in peer-reviewed journals. European Clinical Trials Database: Number 2016-001999-30.

[Suicidal ideas in psychiatric emergency departments: prospective study comparing self- and hetero-assessment].

PubMed

Moroge, S; Paul, F; Milan, C; Gignoux-Froment, F; Henry, J-M; Pilard, M; Marimoutou, C

2014-10-01

Many suicide victims had contacts with an emergency department before their attempt. We aimed to determine whether patients coming to a psychiatric emergency department were well assessed concerning their suicidal risk, and to test an easy to fill in scale rapidly assessing suicidal risk. We conducted a descriptive epidemiological survey in Marseille. The source population was all patients admitted to the psychiatric emergency department. We used a booklet containing three questionnaires for "nurse", "psychiatrist" and "patient". We estimated the suicidal risk using both a visual analogue scale (similar for patients and caregivers), and validated scales on self-assessment (scale of suicidality SBQ-R and the Beck Hopelessness Scale). The questionnaire results have shown that people who visited a psychiatric emergency department presented a significant suicidal risk on several criteria: socio-demographic criteria (social isolation, low level of education, low number of people with a job), psychiatric history (rate of pre-existing psychiatric disorders significantly higher than in the general population, high proportions of family and personal history of suicide attempts, psychiatric hospitalizations, and people with a psychiatrist). Six percent of patients claimed to have come to an emergency unit for suicidal ideas but they were ten times more with a suicidal risk, according to the SBQ-R score. The suicidal risk self-assessed by patients on our visual analogue scale was well correlated with SBQ-R scale and Beck Hopelessness scale, but was not well correlated with the evaluation of caregivers. Hence, the analog scale we created is easy to use and seems to be a good tool for suicidal risk estimation when it is self-assessed by patients in our study population. Copyright © 2014 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.

PubMed

Darlington, T M; Pimentel, R; Smith, K; Bakian, A V; Jerominski, L; Cardon, J; Camp, N J; Callor, W B; Grey, T; Singleton, M; Yandell, M; Renshaw, P F; Yurgelun-Todd, D A; Gray, D; Coon, H

2014-10-21

Suicidal behavior is a complex disorder, with evidence for genetic risk independent of other genetic risk factors including psychiatric disorders. Since 1996, over 3000 DNA samples from Utah suicide decedents have been collected and banked for research use through the Utah Medical Examiner. In addition, over 12,000 Utah suicides were identified through examination of death certificates back to 1904. By linking this data with the Utah Population Database, we have identified multiple extended pedigrees with increased risk for suicide completion. A number of medical conditions co-occur with suicide, including asthma, and this study was undertaken to identify genetic risk common to asthma and suicide. This study tests the hypothesis that a particular comorbid condition may identify a more homogeneous genetic subgroup, facilitating the identification of specific genetic risk factors in that group. From pedigrees at increased risk for suicide, we identified three pedigrees also at significantly increased familial risk for asthma. Five suicide decedents from each of these pedigrees, plus an additional three decedents not from these pedigrees with diagnosed asthma, and 10 decedents with close relatives with asthma were genotyped. Results were compared with 183 publicly available unaffected control exomes from 1000 Genomes and CEPH (Centre d'etude du polymorphisme humain) samples genotyped on the same platform. A further 432 suicide decedents were also genotyped as non-asthma suicide controls. Genotyping was done using the Infinium HumanExome BeadChip. For analysis, we used the pedigree extension of Variant Annotation, Analysis and Search Tool (pVAAST) to calculate the disease burden of each gene. The Phenotype Driven Variant Ontological Re-ranking tool (Phevor) then re-ranked our pVAAST results in context of the phenotype. Using asthma as a seed phenotype, Phevor traversed biomedical ontologies and identified genes with similar biological properties to those known to result in asthma. Our top associated genes included those related to neurodevelopment or neural signaling (brain-derived neurotrophic factor (BDNF), neutral sphingomyelinase 2 (SMPD2), homeobox b2 (HOXB2), neural cell adhesion molecule (NCAM2), heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0)), inflammation (free fatty acid receptor 2 (FFAR2)) and inflammation with additional evidence of neuronal involvement (oxidized low density lipoprotein receptor 1 (OLR1), toll-like receptor 3 (TLR3)). Of particular interest, BDNF has been previously implicated in both psychiatric disorders and asthma. Our results demonstrate the utility of combining pedigree and co-occurring phenotypes to identify rare variants associated with suicide risk in conjunction with specific co-occurring conditions.

Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma

PubMed Central

Darlington, T M; Pimentel, R; Smith, K; Bakian, A V; Jerominski, L; Cardon, J; Camp, N J; Callor, W B; Grey, T; Singleton, M; Yandell, M; Renshaw, P F; Yurgelun-Todd, D A; Gray, D; Coon, H

2014-01-01

Suicidal behavior is a complex disorder, with evidence for genetic risk independent of other genetic risk factors including psychiatric disorders. Since 1996, over 3000 DNA samples from Utah suicide decedents have been collected and banked for research use through the Utah Medical Examiner. In addition, over 12 000 Utah suicides were identified through examination of death certificates back to 1904. By linking this data with the Utah Population Database, we have identified multiple extended pedigrees with increased risk for suicide completion. A number of medical conditions co-occur with suicide, including asthma, and this study was undertaken to identify genetic risk common to asthma and suicide. This study tests the hypothesis that a particular comorbid condition may identify a more homogeneous genetic subgroup, facilitating the identification of specific genetic risk factors in that group. From pedigrees at increased risk for suicide, we identified three pedigrees also at significantly increased familial risk for asthma. Five suicide decedents from each of these pedigrees, plus an additional three decedents not from these pedigrees with diagnosed asthma, and 10 decedents with close relatives with asthma were genotyped. Results were compared with 183 publicly available unaffected control exomes from 1000 Genomes and CEPH (Centre d'etude du polymorphisme humain) samples genotyped on the same platform. A further 432 suicide decedents were also genotyped as non-asthma suicide controls. Genotyping was done using the Infinium HumanExome BeadChip. For analysis, we used the pedigree extension of Variant Annotation, Analysis and Search Tool (pVAAST) to calculate the disease burden of each gene. The Phenotype Driven Variant Ontological Re-ranking tool (Phevor) then re-ranked our pVAAST results in context of the phenotype. Using asthma as a seed phenotype, Phevor traversed biomedical ontologies and identified genes with similar biological properties to those known to result in asthma. Our top associated genes included those related to neurodevelopment or neural signaling (brain-derived neurotrophic factor (BDNF), neutral sphingomyelinase 2 (SMPD2), homeobox b2 (HOXB2), neural cell adhesion molecule (NCAM2), heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0)), inflammation (free fatty acid receptor 2 (FFAR2)) and inflammation with additional evidence of neuronal involvement (oxidized low density lipoprotein receptor 1 (OLR1), toll-like receptor 3 (TLR3)). Of particular interest, BDNF has been previously implicated in both psychiatric disorders and asthma. Our results demonstrate the utility of combining pedigree and co-occurring phenotypes to identify rare variants associated with suicide risk in conjunction with specific co-occurring conditions. PMID:25335167

Screening for social phobia in medical in- and outpatients with the German version of the Social Phobia Inventory (SPIN).

PubMed

Sosic, Z; Gieler, U; Stangier, U

2008-06-01

To evaluate the German version of the Social Phobia Inventory (SPIN) as a screening device and to report corresponding cut-off scores for different populations. In Study 1, 2043 subjects from a representative sample completed the SPIN. Cut-off values were established on the basis of means and standard deviations. In Study 2, different aspects of validity were examined in a clinical sample comprising 164 subjects, including social phobic individuals, individuals with other anxiety disorders and depression, and non-clinical control subjects. Internal consistency was evaluated. Convergent and divergent validity were explored using several established measures. Finally, the sensitivity and specificity of the German SPIN with regard to social anxiety classification were investigated by means of receiver operating characteristics (ROC) analyses. In Study 1, mean scores and standard deviations were used to determine cut-off scores for the German SPIN. In Study 2, excellent internal consistency and good convergent and divergent validity were obtained. ROC analyses revealed that the German SPIN performed well in discriminating between social phobic individuals on the one hand and psychiatric and non-psychiatric controls on the other. A cut-off score of 25 represented the best balance between sensitivity and specificity. Comparable to the original version, the German SPIN demonstrates solid psychometric properties and shows promise as an economic, reliable, and valid screening device.

Excellent reliability of the Hamilton Depression Rating Scale (HDRS-21) in Indonesia after training.

PubMed

Istriana, Erita; Kurnia, Ade; Weijers, Annelies; Hidayat, Teddy; Pinxten, Lucas; de Jong, Cor; Schellekens, Arnt

2013-09-01

The Hamilton Depression Rating Scale (HDRS) is the most widely used depression rating scale worldwide. Reliability of HDRS has been reported mainly from Western countries. The current study tested the reliability of HDRS ratings among psychiatric residents in Indonesia, before and after HDRS training. The hypotheses were that: (i) prior to the training reliability of HDRS ratings is poor; and (ii) HDRS training can improve reliability of HDRS ratings to excellent levels. Furthermore, we explored cultural validity at item level. Videotaped HDRS interviews were rated by 30 psychiatric residents before and after 1 day of HDRS training. Based on a gold standard rating, percentage correct ratings and deviation from the standard were calculated. Correct ratings increased from 83% to 99% at item level and from 70% to 100% for the total rating. The average deviation from the gold standard rating improved from 0.07 to 0.02 at item level and from 2.97 to 0.46 for the total rating. HDRS assessment by psychiatric trainees in Indonesia without prior training is unreliable. A short, evidence-based HDRS training improves reliability to near perfect levels. The outlined training program could serve as a template for HDRS trainings. HDRS items that may be less valid for assessment of depression severity in Indonesia are discussed. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

Internet Gaming Disorder: Investigating the Clinical Relevance of a New Phenomenon.

PubMed

Przybylski, Andrew K; Weinstein, Netta; Murayama, Kou

2017-03-01

The American Psychiatric Association (APA) identified Internet gaming disorder as a new potential psychiatric disorder and has recognized that little is known about the prevalence, validity, or cross-cultural robustness of proposed Internet gaming disorder criteria. In response to this gap in our understanding, the present study, a first for this research topic, estimated the period prevalence of this new potential psychiatric disorder using APA guidance, examined the validity of its proposed indicators, evaluated reliability cross-culturally and across genders, compared it to gold-standard research on gambling addiction and problem gaming, and estimated its impact on physical, social, and mental health. Four survey studies (N=18,932) with large international cohorts employed an open-science methodology wherein the analysis plans for confirmatory hypotheses were registered prior to data collection. Among those who played games, more than 2 out of 3 did not report any symptoms of Internet gaming disorder, and findings showed that a very small proportion of the general population (between 0.3% and 1.0%) might qualify for a potential acute diagnosis of Internet gaming disorder. Comparison to gambling disorder revealed that Internet-based games may be significantly less addictive than gambling and similarly dysregulating as electronic games more generally. The evidence linking Internet gaming disorder to game engagement was strong, but links to physical, social, and mental health outcomes were decidedly mixed.

Implicit Measures of Association in Psychopathology Research

ERIC Educational Resources Information Center

Roefs, Anne; Huijding, Jorg; Smulders, Fren T. Y.; MacLeod, Colin M.; de Jong, Peter J.; Wiers, Reinout W.; Jansen, Anita T. M.

2011-01-01

Validity;Measures (Individuals);Studies obtaining implicit measures of associations in "Diagnostic and Statistical Manual of Mental Disorders" (4th ed., Text Revision; American Psychiatric Association, 2000) Axis I psychopathology are organized into three categories: (a) studies comparing groups having a disorder with controls, (b) experimental…

Theoretical Evaluation Self-Test (Test): A Preliminary Validation Study

ERIC Educational Resources Information Center

Coleman, Daniel

2004-01-01

Over nearly 40 years, several scales have been developed to measure therapist theoretical orientation (Poznanski & McLennan, 1995). This study, unlike previous efforts, focuses on "community clinicians"--social workers and other mental health professionals (such as psychologists, counselors, psychiatrists, and psychiatric nurses) who…

Reliability and Validity of Prototype Diagnosis for Adolescent Psychopathology.

PubMed

Haggerty, Greg; Zodan, Jennifer; Mehra, Ashwin; Zubair, Ayyan; Ghosh, Krishnendu; Siefert, Caleb J; Sinclair, Samuel J; DeFife, Jared

2016-04-01

The current study investigated the interrater reliability and validity of prototype ratings of 5 common adolescent psychiatric disorders: attention-deficit/hyperactivity disorder, conduct disorder, major depressive disorder, generalized anxiety disorder, and posttraumatic stress disorder. One hundred fifty-seven adolescent inpatient participants consented to participate in this study. We compared ratings from 2 inpatient clinicians, blinded to each other's ratings and patient measures, after their separate initial diagnostic interview to assess interrater reliability. Prototype ratings completed by clinicians after their initial diagnostic interview with adolescent inpatients and outpatients were compared with patient-reported behavior problems and parents' report of their child's behavioral problems. Prototype ratings demonstrated good interrater reliability. Clinicians' prototype ratings showed predicted relationships with patient-reported behavior problems and parent-reported behavior problems. Prototype matching seems to be a possible alternative for psychiatric diagnosis. Prototype ratings showed good interrater reliability based on clinicians unique experiences with the patient (as opposed to video-/audio-recorded material) with no training.

Assessment of personality functioning: validity of the operationalized psychodynamic diagnosis axis IV (structure).

PubMed

Doering, Stephan; Burgmer, Markus; Heuft, Gereon; Menke, Dina; Bäumer, Brigitta; Lübking, Margit; Feldmann, Marcus; Schneider, Gudrun

2014-01-01

The assessment of personality functioning has recently become a focus of psychiatric diagnostics. The interview-based Operationalized Psychodynamic Diagnosis (OPD-2) provides a 'structure axis' for the assessment of personality functioning. One hundred twenty-four psychiatric patients were diagnosed by means of the Structured Clinical Interviews for DSM-IV (SCID-I and SCID-II), underwent OPD-2 interviews, and completed 9 questionnaires. The OPD-2 structure axis shows good interrater reliability (intraclass correlation = 0.793). Correlations between the OPD-2 structure axis domains and a priori selected questionnaire scales were of medium size and significant. Patients with a personality disorder (PD) showed significantly worse personality functioning than those without. In cluster B PD, personality functioning was more severely impaired than in cluster C PD. The OPD-2 structure axis shows good reliability as well as concurrent and discriminant validity and can be recommended for clinical use and research purposes. © 2013 S. Karger AG, Basel.

Validation of a Clinical Global Impression Scale for Aggression (CGI-A) in a sample of 558 psychiatric patients.

PubMed

Huber, Christian G; Lambert, Martin; Naber, Dieter; Schacht, Alexander; Hundemer, Hans-Peter; Wagner, Thomas T; Schimmelmann, Benno G

2008-03-01

Clinical management of aggression depends on the availability of easily administrable measurements allowing reliable evaluation. The present study's aim is to validate a Clinical Global Impression-Severity of Aggression scale (CGI-A). 558 inpatients with psychiatric disorders and an agitated-aggressive syndrome at baseline were continuously assessed over 5 days using CGI-A and the Positive and Negative Syndrome Scale-Excited Component (PANSS-EC). Equipercentile linking, correlation analyses and linear regression were applied. Relationship between CGI-A and PANSS-EC total score was found to be linear. On a 5-level CGI-A scale, values of 1 to 5 points were found to correspond to PANSS-EC scores of 12.2, 16.7, 21.3, 25.8, and 30.4, respectively (average increase: 4.6). All findings remained stable when only data from patients with schizophrenia spectrum disorders were analyzed. The CGI-A is proposed as a quickly administrable scale for the assessment of patients' aggressiveness.

The List of Threatening Experiences: the reliability and validity of a brief life events questionnaire.

PubMed

Brugha, T S; Cragg, D

1990-07-01

During the 23 years since the original work of Holmes & Rahe, research into stressful life events on human subjects has tended towards the development of longer and more complex inventories. The List of Threatening Experiences (LTE) of Brugha et al., by virtue of its brevity, overcomes difficulties of clinical application. In a study of 50 psychiatric patients and informants, the questionnaire version of the list (LTE-Q) was shown to have high test-retest reliability, and good agreement with informant information. Concurrent validity, based on the criterion of independently rated adversity derived from a semistructured life events interview, making use of the Life Events and Difficulties Scales (LEDS) method developed by Brown & Harris, showed both high specificity and sensitivity. The LTE-Q is particularly recommended for use in psychiatric, psychological and social studies in which other intervening variables such as social support, coping, and cognitive variables are of interest, and resources do not allow for the use of extensive interview measures of stress.

Social disinhibition is a heritable subphenotype of tics in Tourette syndrome

PubMed Central

Hirschtritt, Matthew E.; Darrow, Sabrina M.; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert A.; Pauls, David L.; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; Yu, Dongmei; McGrath, Lauren M.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.

2016-01-01

Objective: To identify heritable symptom-based subtypes of Tourette syndrome (TS). Methods: Forty-nine motor and phonic tics were examined in 3,494 individuals (1,191 TS probands and 2,303 first-degree relatives). Item-level exploratory factor and latent class analyses (LCA) were used to identify tic-based subtypes. Heritabilities of the subtypes were estimated, and associations with clinical characteristics were examined. Results: A 6-factor exploratory factor analysis model provided the best fit, which paralleled the somatotopic representation of the basal ganglia, distinguished simple from complex tics, and separated out socially disinhibited and compulsive tics. The 5-class LCA model best distinguished among the following groups: unaffected, simple tics, intermediate tics without social disinhibition, intermediate with social disinhibition, and high rates of all tic types. Across models, a phenotype characterized by high rates of social disinhibition emerged. This phenotype was associated with increased odds of comorbid psychiatric disorders, in particular, obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, earlier age at TS onset, and increased tic severity. The heritability estimate for this phenotype based on the LCA was 0.53 (SE 0.08, p 1.7 × 10−18). Conclusions: Expanding on previous modeling approaches, a series of TS-related phenotypes, including one characterized by high rates of social disinhibition, were identified. These phenotypes were highly heritable and may reflect underlying biological networks more accurately than traditional diagnoses, thus potentially aiding future genetic, imaging, and treatment studies. PMID:27371487

Social disinhibition is a heritable subphenotype of tics in Tourette syndrome.

PubMed

Hirschtritt, Matthew E; Darrow, Sabrina M; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C; Greenberg, Erica; Lyon, Gholson J; Yu, Dongmei; McGrath, Lauren M; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

2016-08-02

To identify heritable symptom-based subtypes of Tourette syndrome (TS). Forty-nine motor and phonic tics were examined in 3,494 individuals (1,191 TS probands and 2,303 first-degree relatives). Item-level exploratory factor and latent class analyses (LCA) were used to identify tic-based subtypes. Heritabilities of the subtypes were estimated, and associations with clinical characteristics were examined. A 6-factor exploratory factor analysis model provided the best fit, which paralleled the somatotopic representation of the basal ganglia, distinguished simple from complex tics, and separated out socially disinhibited and compulsive tics. The 5-class LCA model best distinguished among the following groups: unaffected, simple tics, intermediate tics without social disinhibition, intermediate with social disinhibition, and high rates of all tic types. Across models, a phenotype characterized by high rates of social disinhibition emerged. This phenotype was associated with increased odds of comorbid psychiatric disorders, in particular, obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, earlier age at TS onset, and increased tic severity. The heritability estimate for this phenotype based on the LCA was 0.53 (SE 0.08, p 1.7 × 10(-18)). Expanding on previous modeling approaches, a series of TS-related phenotypes, including one characterized by high rates of social disinhibition, were identified. These phenotypes were highly heritable and may reflect underlying biological networks more accurately than traditional diagnoses, thus potentially aiding future genetic, imaging, and treatment studies. © 2016 American Academy of Neurology.

Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.

PubMed

Bourgeois, James A

2016-08-01

Clinical neuropsychologists benefit from clinical currency in recently ascertained neuropsychiatric illness, such as fragile X premutation (FXPM) disorders. The author reviewed the clinical literature through 2016 for neuropsychiatric phenotypes in FXPM disorders, including patients with fragile X-associated tremor/ataxia syndrome (FXTAS). A PubMed search using the search terms 'Fragile X,' 'Premutation,' 'Carriers,' 'Psychiatric,' 'Dementia,' 'Mood,' and 'Anxiety' for citations in the clinical literature through 2016 was reviewed for studies specifically examining the neuropsychiatric phenotype in FXPM patients. The relevant articles were classified according to specific neuropsychiatric syndromes, including child onset, adult onset with and without FXTAS, as well as common systemic comorbidities in FXPM patients. Eighty-six articles were reviewed for the neuropsychiatric and other phenotypes in FXPM patients. The neuropsychiatric phenotype in FXPM patients is distinct from that of full mutation (Fragile X Syndrome) patients. FXTAS is associated with a specific cortical-subcortical major or mild neurocognitive disorder (NCD). FXPM patients are at risk for neuropsychiatric illness. In addition, FXPM patients are at risk for other systemic conditions that should raise suspicion for FXPM-associated illnesses. Clinicians should consider a diagnosis of FXPM-associated neuropsychiatric illness when patients with specific clinical scenarios are encountered; especially in patient pedigrees consistent with a typical (often multigenerational) presentation of fragile X-associated conditions, confirmatory genetic testing should be considered. Clinical management should take into account the psychological challenges of a multigenerational genetic neuropsychiatric illness with a variable CNS and systemic clinical phenotype.

Childhood CBCL Bipolar Profile and Adolescent/Young Adult Personality Disorders: A 9-year Follow-up

PubMed Central

Halperin, Jeffrey M.; Rucklidge, Julia J.; Powers, Robyn L.; Miller, Carlin J.; Newcorn, Jeffrey H.

2010-01-01

Background To assess the late adolescent psychiatric outcomes associated with a positive Child Behavior Checklist – Juvenile Bipolar Disorder Phenotype (CBCL-JBD) in children diagnosed with ADHD and followed over a 9-year period. Methods Parents of 152 children diagnosed as ADHD (ages 7–11 years) completed the CBCL. Ninety of these parents completed it again 9 years later as part of a comprehensive evaluation of Axis I and II diagnoses as assessed using semi-structured interviews. As previously proposed, the CBCL-JBD phenotype was defined as T-scores of 70 or greater on the Attention Problems, Aggression, and Anxiety/Depression subscales. Results The CBCL-JBD phenotype was found in 31% of those followed but only 4.9% of the sample continued to meet the phenotype criteria at follow up. Only two of the sample developed Bipolar Disorder by late adolescence and only one of those had the CBCL-JBD profile in childhood. The proxy did not predict any Axis I disorders. However, the CBCL-JBD proxy was highly predictive of later personality disorders. Limitations Only a subgroup of the original childhood sample was followed. Given this sample was confined to children with ADHD, it is not known whether the prediction of personality disorders from CBCL scores would generalize to a wider community or clinical population Conclusions A positive CBCL-JBD phenotype profile in childhood does not predict Axis I Disorders in late adolescence; however, it may be prognostic of the emergence of personality disorders. PMID:21056910

Morphometricity as a measure of the neuroanatomical signature of a trait.

PubMed

Sabuncu, Mert R; Ge, Tian; Holmes, Avram J; Smoller, Jordan W; Buckner, Randy L; Fischl, Bruce

2016-09-27

Complex physiological and behavioral traits, including neurological and psychiatric disorders, often associate with distributed anatomical variation. This paper introduces a global metric, called morphometricity, as a measure of the anatomical signature of different traits. Morphometricity is defined as the proportion of phenotypic variation that can be explained by macroscopic brain morphology. We estimate morphometricity via a linear mixed-effects model that uses an anatomical similarity matrix computed based on measurements derived from structural brain MRI scans. We examined over 3,800 unique MRI scans from nine large-scale studies to estimate the morphometricity of a range of phenotypes, including clinical diagnoses such as Alzheimer's disease, and nonclinical traits such as measures of cognition. Our results demonstrate that morphometricity can provide novel insights about the neuroanatomical correlates of a diverse set of traits, revealing associations that might not be detectable through traditional statistical techniques.

Morphometricity as a measure of the neuroanatomical signature of a trait

PubMed Central

Sabuncu, Mert R.; Ge, Tian; Holmes, Avram J.; Smoller, Jordan W.; Buckner, Randy L.; Fischl, Bruce

2016-01-01

Complex physiological and behavioral traits, including neurological and psychiatric disorders, often associate with distributed anatomical variation. This paper introduces a global metric, called morphometricity, as a measure of the anatomical signature of different traits. Morphometricity is defined as the proportion of phenotypic variation that can be explained by macroscopic brain morphology. We estimate morphometricity via a linear mixed-effects model that uses an anatomical similarity matrix computed based on measurements derived from structural brain MRI scans. We examined over 3,800 unique MRI scans from nine large-scale studies to estimate the morphometricity of a range of phenotypes, including clinical diagnoses such as Alzheimer’s disease, and nonclinical traits such as measures of cognition. Our results demonstrate that morphometricity can provide novel insights about the neuroanatomical correlates of a diverse set of traits, revealing associations that might not be detectable through traditional statistical techniques. PMID:27613854

Assessing Sociability, Social Memory, and Pup Retrieval in Mice.

PubMed

Zimprich, Annemarie; Niessing, Jörn; Cohen, Lior; Garrett, Lillian; Einicke, Jan; Sperling, Bettina; Schmidt, Mathias V; Hölter, Sabine M

2017-12-20

Adaptive social behavior is important in mammals, both for the well-being of the individual and for the thriving of the species. Dysfunctions in social behavior occur in many neurodevelopmental and psychiatric diseases, and research into the genetic components of disease-relevant social deficits can open up new avenues for understanding the underlying biological mechanisms and therapeutic interventions. Genetically modified mouse models are particularly useful in this respect, and robust experimental protocols are needed to reliably assess relevant social behavior phenotypes. Here we describe in detail three protocols to quantitatively measure sociability, one of the most frequently investigated social behavior phenotypes in mice, using a three-chamber sociability test. These protocols can be extended to also assess social memory. In addition, we provide a detailed protocol on pup retrieval, which is a particularly robust maternal behavior amenable to various scientific questions. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

Oxytocin and vasopressin neural networks: implications for social behavioral diversity and translational neuroscience

PubMed Central

Johnson, Zachary V.; Young, Larry J.

2017-01-01

Oxytocin- and vasopressin-related systems are present in invertebrate and vertebrate bilaterian animals, including humans, and exhibit conserved neuroanatomical and functional properties. In vertebrates, these systems innervate conserved neural networks that regulate social learning and behavior, including conspecific recognition, social attachment, and parental behavior. Individual and species-level variation in central organization of oxytocin and vasopressin systems has been linked to individual and species variation in social learning and behavior. In humans, genetic polymorphisms in the genes encoding oxytocin and vasopressin peptides and/or their respective target receptors have been associated with individual variation in social recognition, social attachment phenotypes, parental behavior, and psychiatric phenotypes such as autism. Here we describe both conserved and variable features of central oxytocin and vasopressin systems in the context of social behavioral diversity, with a particular focus on neural networks that modulate social learning, behavior, and salience of sociosensory stimuli during species-typical social contexts. PMID:28434591

Prader-Willi syndrome and autism spectrum disorders: an evolving story.

PubMed

Dykens, Elisabeth M; Lee, Evon; Roof, Elizabeth

2011-09-01

Prader-Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11-q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11-q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism.

Behavioral addictions.

PubMed

Robbins, T W; Clark, L

2015-02-01

Behavioral addictions are slowly becoming recognized as a valid category of psychiatric disorder as shown by the recent allocation of pathological gambling to this category in DSM-5. However, several other types of psychiatric disorder proposed to be examples of behavioral addictions have yet to be accorded this formal acknowledgment and are dispersed across other sections of the DSM-5. This brief review marks this important point in the evolution of this concept and looks to future investigation of behavioral addictions with the theoretical frameworks currently being used successfully to investigate substance addiction and obsessive-compulsive disorder, in a potentially new spectrum of impulsive-compulsive disorders. Copyright © 2014 Elsevier Ltd. All rights reserved.

The Middlesex Hospital Questionnaire: a validity study with American psychiatric patients.

PubMed

Mavissakalian, M; Michelson, L

1981-10-01

The Middlesex Hospital Questionnaire (MHQ) was used as a screening test for psychiatric disorder in 169 new outpatients. The profile obtained on the six subscales of the MHQ was strikingly similar in this American sample compared to four previous British reports. The MHQ significantly differentiated between diagnostic groups, most particularly between neuroses and personality disorders. Moreover, 75 per cent of the patients could be correctly classified as either neurosis or personality disorder on the basis of their MHQ total and subscale scores. The MHQ appears to be particularly useful in identifying phobic disorders, and the phobia subscale consistently discriminated between anxiety-phobic states and other diagnostic groups.

Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain.

PubMed

Takeuchi, Akihide; Iida, Kei; Tsubota, Toshiaki; Hosokawa, Motoyasu; Denawa, Masatsugu; Brown, J B; Ninomiya, Kensuke; Ito, Mikako; Kimura, Hiroshi; Abe, Takaya; Kiyonari, Hiroshi; Ohno, Kinji; Hagiwara, Masatoshi

2018-05-01

Genes specifically expressed in neurons contain members with extended long introns. Longer genes present a problem with respect to fulfilment of gene length transcription, and evidence suggests that dysregulation of long genes is a mechanism underlying neurodegenerative and psychiatric disorders. Here, we report the discovery that RNA-binding protein Sfpq is a critical factor for maintaining transcriptional elongation of long genes. We demonstrate that Sfpq co-transcriptionally binds to long introns and is required for sustaining long-gene transcription by RNA polymerase II through mediating the interaction of cyclin-dependent kinase 9 with the elongation complex. Phenotypically, Sfpq disruption caused neuronal apoptosis in developing mouse brains. Expression analysis of Sfpq-regulated genes revealed specific downregulation of developmentally essential neuronal genes longer than 100 kb in Sfpq-disrupted brains; those genes are enriched in associations with neurodegenerative and psychiatric diseases. The identified molecular machinery yields directions for targeted investigations of the association between long-gene transcriptopathy and neuronal diseases. Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.

dcc orchestrates the development of the prefrontal cortex during adolescence and is altered in psychiatric patients.

PubMed

Manitt, C; Eng, C; Pokinko, M; Ryan, R T; Torres-Berrío, A; Lopez, J P; Yogendran, S V; Daubaras, M J J; Grant, A; Schmidt, E R E; Tronche, F; Krimpenfort, P; Cooper, H M; Pasterkamp, R J; Kolb, B; Turecki, G; Wong, T P; Nestler, E J; Giros, B; Flores, C

2013-12-17

Adolescence is a period of heightened susceptibility to psychiatric disorders of medial prefrontal cortex (mPFC) dysfunction and cognitive impairment. mPFC dopamine (DA) projections reach maturity only in early adulthood, when their control over cognition becomes fully functional. The mechanisms governing this protracted and unique development are unknown. Here we identify dcc as the first DA neuron gene to regulate mPFC connectivity during adolescence and dissect the mechanisms involved. Reduction or loss of dcc from DA neurons by Cre-lox recombination increased mPFC DA innervation. Underlying this was the presence of ectopic DA fibers that normally innervate non-cortical targets. Altered DA input changed the anatomy and electrophysiology of mPFC circuits, leading to enhanced cognitive flexibility. All phenotypes only emerged in adulthood. Using viral Cre, we demonstrated that dcc organizes mPFC wiring specifically during adolescence. Variations in DCC may determine differential predisposition to mPFC disorders in humans. Indeed, DCC expression is elevated in brains of antidepressant-free subjects who committed suicide.

Against Genetic Tests for Athletic Talent: The Primacy of the Phenotype.

PubMed

Loland, Sigmund

2015-09-01

New insights into the genetics of sport performance lead to new areas of application. One area is the use of genetic tests to identify athletic talent. Athletic performances involve a high number of complex phenotypical traits. Based on the ACCE model (review of Analytic and Clinical validity, Clinical utility, and Ethical, legal and social implications), a critique is offered of the lack of validity and predictive power of genetic tests for talent. Based on the ideal of children's right to an open future, a moral argument is given against such tests on children and young athletes. A possible role of genetic tests in sport is proposed in terms of identifying predisposition for injury. In meeting ACCE requirements, such tests could improve individualised injury prevention and increase athlete health. More generally, limitations of science are discussed in the identification of talent and in the understanding of complex human performance phenotypes. An alternative approach to talent identification is proposed in terms of ethically sensitive, systematic and evidence-based holistic observation over time of relevant phenotypical traits by experienced observers. Talent identification in sport should be based on the primacy of the phenotype.

The Yoruba version of the Beck Hopelessness Scale: psychometric characteristics and correlates of hopelessness in a sample of Nigerian psychiatric outpatients.

PubMed

Aloba, Olutayo; Akinsulore, Adesanmi; Mapayi, Boladale; Oloniniyi, Ibiduniyi; Mosaku, Kolawole; Alimi, Taiwo; Esan, Olufemi

2015-01-01

Previous studies from the developed western countries have repeatedly demonstrated that hopelessness positively correlates with an increased risk of suicide in the context of chronic mental disorders such as schizophrenia and affective disorders. Despite this persistently strong association, the construct of hopelessness in terms of its factorial structure and correlates has not been explored among Nigerian psychiatric outpatients. The aim of this present study is to examine the psychometric characteristics of the Yoruba language culturally adapted version of the Beck Hopelessness Scale in a cross-sectional sample of psychiatric outpatients in South-western Nigeria. The participants were 327 Nigerian adult outpatients receiving treatment for schizophrenia, bipolar and depressive disorders, consecutively recruited from the outpatient psychiatric clinics of a university teaching hospital in South-western Nigeria. The outpatients were recruited over a one year period. They completed the Yoruba translated version of the Beck Hopelessness Scale (BHS-Y), a sociodemographic and illness-related questionnaire, the Beck Depression Inventory-II (BDI-II). Their level of functioning was assessed with the Global Assessment of Functioning Scale (GAF), psychopathology was evaluated with the Positive and Negative Syndrome Scale (PANSS) and the level of disability measured with the World Health Organization Disability Assessment Schedule (WHODAS-II). Suicidality and confirmation of the diagnoses of schizophrenia, bipolar and depressive disorders were evaluated with the Mini International Neuropsychiatric Interview (MINI). The construct of hopelessness in terms of factorial structure, reliability, validity and correlates was explored. Exploratory Factor Analysis using Principal Component Analysis with Varimax rotation was used to examine the factorial structure of the BHS-Y. Internal consistency was examined with Cronbach's alpha, and the construct validity of the scale was assessed using correlational analyses with the MINI suicidality module, BDI-II, GAF and WHODAS-II domain scores. We also tested the hypothesis that a shortened version of the BHS-Y will possess psychometric properties similar to the 20 item version. Exploratory Factor Analysis using Principal Component Analysis with Varimax rotation showed that the construct of hopelessness among our outpatients was best explained by a 3 factor model. Reliability of the translated version of the scale was adequate as indicated by a Cronbach's alpha of 0.92. Construct validity was also satisfactory as reflected by the strong correlations with MINI suicidality, Beck Depression Inventory-II and Global Assessment of Functioning scores. The shortened 4 item single factor BHS-Y composed of items 8, 9, 13 and 15 demonstrated psychometric properties similar to those of the full item version. The Beck Hopelessness Scale (Yoruba Version) demonstrated satisfactory reliability and validity and therefore may be useful in measuring the construct of hopelessness and in clinical suicide risk assessments among Nigerian psychiatric outpatients. There is the need for more studies to further explore the psychometric features and correlates of this scale among other Nigerian ethnic groups in addition to other medical patients' populations. Copyright © 2014 Elsevier Inc. All rights reserved.

Predictors of mental health-related acute service utilisation and treatment costs in the 12 months following an acute psychiatric admission.

PubMed

Siskind, Dan; Harris, Meredith; Diminic, Sandra; Carstensen, Georgia; Robinson, Gail; Whiteford, Harvey

2014-11-01

A key step in informing mental health resource allocation is to identify the predictors of service utilisation and costs. This project aims to identify the predictors of mental health-related acute service utilisation and treatment costs in the year following an acute public psychiatric hospital admission. A dataset containing administrative and routinely measured outcome data for 1 year before and after an acute psychiatric admission for 1757 public mental health patients was analysed. Multivariate regression models were developed to identify patient- and treatment-related predictors of four measures of service utilisation or cost: (a) duration of index admission; and, in the year after discharge from the index admission (b) acute psychiatric inpatient bed-days; (c) emergency department (ED) presentations; and (d) total acute mental health service costs. Split-sample cross-validation was used. A diagnosis of psychosis, problems with living conditions and prior acute psychiatric inpatient bed-days predicted a longer duration of index admission, while prior ED presentations and self-harm predicted a shorter duration. A greater number of acute psychiatric inpatient bed-days in the year post-discharge were predicted by psychosis diagnosis, problems with living conditions and prior acute psychiatric inpatient admissions. The number of future ED presentations was predicted by past ED presentations. For total acute care costs, diagnosis of psychosis was the strongest predictor. Illness acuity and prior acute psychiatric inpatient admission also predicted higher costs, while self-harm predicted lower costs. The development of effective models for predicting acute mental health treatment costs using existing administrative data is an essential step towards a workable activity-based funding model for mental health. Future studies would benefit from the inclusion of a wider range of variables, including ethnicity, clinical complexity, cognition, mental health legal status, electroconvulsive therapy, problems with activities of daily living and community contacts. © The Royal Australian and New Zealand College of Psychiatrists 2014.

A collaborative approach to developing an electronic health record phenotyping algorithm for drug-induced liver injury

PubMed Central

Overby, Casey Lynnette; Pathak, Jyotishman; Gottesman, Omri; Haerian, Krystl; Perotte, Adler; Murphy, Sean; Bruce, Kevin; Johnson, Stephanie; Talwalkar, Jayant; Shen, Yufeng; Ellis, Steve; Kullo, Iftikhar; Chute, Christopher; Friedman, Carol; Bottinger, Erwin; Hripcsak, George; Weng, Chunhua

2013-01-01

Objective To describe a collaborative approach for developing an electronic health record (EHR) phenotyping algorithm for drug-induced liver injury (DILI). Methods We analyzed types and causes of differences in DILI case definitions provided by two institutions—Columbia University and Mayo Clinic; harmonized two EHR phenotyping algorithms; and assessed the performance, measured by sensitivity, specificity, positive predictive value, and negative predictive value, of the resulting algorithm at three institutions except that sensitivity was measured only at Columbia University. Results Although these sites had the same case definition, their phenotyping methods differed by selection of liver injury diagnoses, inclusion of drugs cited in DILI cases, laboratory tests assessed, laboratory thresholds for liver injury, exclusion criteria, and approaches to validating phenotypes. We reached consensus on a DILI phenotyping algorithm and implemented it at three institutions. The algorithm was adapted locally to account for differences in populations and data access. Implementations collectively yielded 117 algorithm-selected cases and 23 confirmed true positive cases. Discussion Phenotyping for rare conditions benefits significantly from pooling data across institutions. Despite the heterogeneity of EHRs and varied algorithm implementations, we demonstrated the portability of this algorithm across three institutions. The performance of this algorithm for identifying DILI was comparable with other computerized approaches to identify adverse drug events. Conclusions Phenotyping algorithms developed for rare and complex conditions are likely to require adaptive implementation at multiple institutions. Better approaches are also needed to share algorithms. Early agreement on goals, data sources, and validation methods may improve the portability of the algorithms. PMID:23837993

New technologies provide insights into genetic basis of psychiatric disorders and explain their co-morbidity.

PubMed

Rudan, Igor

2010-06-01

The completion of Human Genome Project and the "HapMap" project was followed by translational activities from companies within the private sector. This led to the introduction of genome-wide scans based on hundreds of thousands of single nucleotide polymorphysms (SNP). These scans were based on common genetic variants in human populations. This new and powerful technology was then applied to the existing DNA-based datasets with information on psychiatric disorders. As a result, an unprecedented amount of novel scientific insights related to the underlying biology and genetics of psychiatric disorders was obtained. The dominant design of these studies, so called "genome-wide association studies" (GWAS), used statistical methods which minimized the risk of false positive reports and provided much greater power to detect genotype-phenotype associations. All findings were entirely data-driven rather than hypothesis-driven, which often made it difficult for researchers to understand or interpret the findings. Interestingly, this work in genetics is indicating how non-specific some genes are for psychiatric disorders, having associations in common for schizophrenia, bipolar disorder and autism. This suggests that the earlier stages of psychiatric disorders may be multi-valent and that early detection, coupled with a clearer understanding of the environmental factors, may allow prevention. At the present time, the rich "harvest" from GWAS still has very limited power to predict the variation in psychiatric disease status at individual level, typically explaining less than 5% of the total risk variance. The most recent studies of common genetic variation implicated the role of major histocompatibility complex in schizophrenia and other disorders. They also provided molecular evidence for a substantial polygenic component to the risk of psychiatric diseases, involving thousands of common alleles of very small effect. The studies of structural genetic variation, such as copy number variants (CNV), coupled with the efforts targeting rare genetic variation (using the emerging whole-genome "deep" sequencing technologies) will become the area of the greatest interest in the field of genetic epidemiology. This will be complemented by the studies of epigenetic phoenomena, changes of expression at a large scale and understanding gene-gene interactions in complex networks using systems biology approaches. A deeper understanding of the underlying biology of psychiatric disorders is essential to improve diagnoses and therapies of these diseases. New technologies - genome-wide association studies, imaging and the optical manipulation of neural circuits - are promising to provide novel insights and lead to new treatments.

Values and assumptions in the development of DSM-III and DSM-III-R: an insider's perspective and a belated response to Sadler, Hulgus, and Agich's "On values in recent American psychiatric classification".

PubMed

Spitzer, R L

2001-06-01

It is widely acknowledged that the approach taken in the development of a classification of mental disorders is guided by various values and assumptions. The author, who played a central role in the development of DSM-III (American Psychiatric Association [1980] Diagnostic and statistical manual of mental disorders, 3rd ed. Washington, DC:Author) and DSM-III-R (American Psychiatric Association [1987] Diagnostic and statistical manual of mental disorders, 3rd ed, rev. Washington, DC:Author) will explicate the basic values and assumptions that guided the development of these two diagnostic manuals. In so doing, the author will respond to the critique of DSM-III and DSM-III-R made by Sadler et al. in their 1994 paper (Sadler JZ, Hulgus YF, Agich GJ [1994] On values in recent American psychiatric classification. JMed Phil 19:261-277). The author will attempt to demonstrate that the stated goals of DSM-III and DSM-III-R are not inherently in conflict and are easily explicated by appealing to widely held values and assumptions, most of which appeared in the literature during the development of the manuals. Furthermore, we will demonstrate that it is not true that DSM-III places greater emphasis on reliability over validity and is covertly committed to a biological approach to explaining psychiatric disturbance.

RAADS-14 Screen: validity of a screening tool for autism spectrum disorder in an adult psychiatric population

PubMed Central

2013-01-01

Background Autism spectrum disorder (ASD) can be difficult to distinguish from other psychiatric disorders. The clinical assessment of ASD is lengthy, and has to be performed by a specialized clinician. Therefore, a screening instrument to aid in the identification of patients who may have undiagnosed ASD should be useful. The purpose of this study was to develop such a screening instrument. Methods Based on the 80 item Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), we developed a 14 item self-evaluation questionnaire, the RAADS-14 Screen. In total, 135 adults with ASD and 508 psychiatric controls completed the abridged version of the RAADS-R. Results The RAADS-14 Screen score was significantly higher in the ASD group than in the control samples, with a median score of 32 for ASD, 15 for attention deficit hyperactivity disorder, and 11 for other psychiatric disorders (P < 0.001). A cut-off score of 14 or above reached a sensitivity of 97% and a specificity of 46 to 64%. A factor analysis identified three factors consistent with mentalizing deficits, social anxiety, and sensory reactivity relevant for the diagnosis of ASD. The psychometric properties of RAADS-14 Screen were shown to be satisfactory. Conclusions The results of this study indicate that RAADS-14 Screen is a promising measure in screening for ASD in adult psychiatric outpatients. PMID:24321513

High-throughput discovery of novel developmental phenotypes.

PubMed

Dickinson, Mary E; Flenniken, Ann M; Ji, Xiao; Teboul, Lydia; Wong, Michael D; White, Jacqueline K; Meehan, Terrence F; Weninger, Wolfgang J; Westerberg, Henrik; Adissu, Hibret; Baker, Candice N; Bower, Lynette; Brown, James M; Caddle, L Brianna; Chiani, Francesco; Clary, Dave; Cleak, James; Daly, Mark J; Denegre, James M; Doe, Brendan; Dolan, Mary E; Edie, Sarah M; Fuchs, Helmut; Gailus-Durner, Valerie; Galli, Antonella; Gambadoro, Alessia; Gallegos, Juan; Guo, Shiying; Horner, Neil R; Hsu, Chih-Wei; Johnson, Sara J; Kalaga, Sowmya; Keith, Lance C; Lanoue, Louise; Lawson, Thomas N; Lek, Monkol; Mark, Manuel; Marschall, Susan; Mason, Jeremy; McElwee, Melissa L; Newbigging, Susan; Nutter, Lauryl M J; Peterson, Kevin A; Ramirez-Solis, Ramiro; Rowland, Douglas J; Ryder, Edward; Samocha, Kaitlin E; Seavitt, John R; Selloum, Mohammed; Szoke-Kovacs, Zsombor; Tamura, Masaru; Trainor, Amanda G; Tudose, Ilinca; Wakana, Shigeharu; Warren, Jonathan; Wendling, Olivia; West, David B; Wong, Leeyean; Yoshiki, Atsushi; MacArthur, Daniel G; Tocchini-Valentini, Glauco P; Gao, Xiang; Flicek, Paul; Bradley, Allan; Skarnes, William C; Justice, Monica J; Parkinson, Helen E; Moore, Mark; Wells, Sara; Braun, Robert E; Svenson, Karen L; de Angelis, Martin Hrabe; Herault, Yann; Mohun, Tim; Mallon, Ann-Marie; Henkelman, R Mark; Brown, Steve D M; Adams, David J; Lloyd, K C Kent; McKerlie, Colin; Beaudet, Arthur L; Bućan, Maja; Murray, Stephen A

2016-09-22

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts.

High-throughput discovery of novel developmental phenotypes

PubMed Central

Dickinson, Mary E.; Flenniken, Ann M.; Ji, Xiao; Teboul, Lydia; Wong, Michael D.; White, Jacqueline K.; Meehan, Terrence F.; Weninger, Wolfgang J.; Westerberg, Henrik; Adissu, Hibret; Baker, Candice N.; Bower, Lynette; Brown, James M.; Caddle, L. Brianna; Chiani, Francesco; Clary, Dave; Cleak, James; Daly, Mark J.; Denegre, James M.; Doe, Brendan; Dolan, Mary E.; Edie, Sarah M.; Fuchs, Helmut; Gailus-Durner, Valerie; Galli, Antonella; Gambadoro, Alessia; Gallegos, Juan; Guo, Shiying; Horner, Neil R.; Hsu, Chih-wei; Johnson, Sara J.; Kalaga, Sowmya; Keith, Lance C.; Lanoue, Louise; Lawson, Thomas N.; Lek, Monkol; Mark, Manuel; Marschall, Susan; Mason, Jeremy; McElwee, Melissa L.; Newbigging, Susan; Nutter, Lauryl M.J.; Peterson, Kevin A.; Ramirez-Solis, Ramiro; Rowland, Douglas J.; Ryder, Edward; Samocha, Kaitlin E.; Seavitt, John R.; Selloum, Mohammed; Szoke-Kovacs, Zsombor; Tamura, Masaru; Trainor, Amanda G; Tudose, Ilinca; Wakana, Shigeharu; Warren, Jonathan; Wendling, Olivia; West, David B.; Wong, Leeyean; Yoshiki, Atsushi; MacArthur, Daniel G.; Tocchini-Valentini, Glauco P.; Gao, Xiang; Flicek, Paul; Bradley, Allan; Skarnes, William C.; Justice, Monica J.; Parkinson, Helen E.; Moore, Mark; Wells, Sara; Braun, Robert E.; Svenson, Karen L.; de Angelis, Martin Hrabe; Herault, Yann; Mohun, Tim; Mallon, Ann-Marie; Henkelman, R. Mark; Brown, Steve D.M.; Adams, David J.; Lloyd, K.C. Kent; McKerlie, Colin; Beaudet, Arthur L.; Bucan, Maja; Murray, Stephen A.

2016-01-01

Approximately one third of all mammalian genes are essential for life. Phenotypes resulting from mouse knockouts of these genes have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5000 knockout mouse lines, we have identified 410 lethal genes during the production of the first 1751 unique gene knockouts. Using a standardised phenotyping platform that incorporates high-resolution 3D imaging, we identified novel phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes identified in our screen, thus providing a novel dataset that facilitates prioritization and validation of mutations identified in clinical sequencing efforts. PMID:27626380

Detection of Malingered Mental Retardation

ERIC Educational Resources Information Center

Shandera, Anne L.; Berry, David T. R.; Clark, Jessica A.; Schipper, Lindsey J.; Graue, Lili O.; Harp, Jordan P.

2010-01-01

In a cross-validation of results from L. O. Graue et al. (2007), standard psychological assessment instruments, as well as tests of neurocognitive and psychiatric feigning, were administered under standard instructions to 24 participants diagnosed with mild mental retardation (MR) and 10 demographically matched community volunteers (CVH). A 2nd…

Psychosocial Acute Treatment in Early-Episode Schizophrenia Disorders

ERIC Educational Resources Information Center

Bola, John R.

2006-01-01

Objective: This article reviews evidence on the treatment of early episode schizophrenia spectrum disorders that contradicts, in some cases, the American Psychiatric Association's generic recommendation of antipsychotic medication treatment for at least a year. Method: Evidence on lack of diagnostic validity, absence of demonstrated long-term…

Attempted Suicide among Iranian Population

ERIC Educational Resources Information Center

Sheikholeslami, Homayoun; Kani, Camellia; Ziaee, Amir

2008-01-01

Predictors of suicide attempts in Iran, to distinguish any similarities and differences of these predictors between suicide attempts in Iran and other developed and developing countries and to investigate the relation between general psychiatric symptoms and repetition of suicidal attempts were assessed. The validated Farsi version of the General…

The Transgenic RNAi Project at Harvard Medical School: Resources and Validation

PubMed Central

Perkins, Lizabeth A.; Holderbaum, Laura; Tao, Rong; Hu, Yanhui; Sopko, Richelle; McCall, Kim; Yang-Zhou, Donghui; Flockhart, Ian; Binari, Richard; Shim, Hye-Seok; Miller, Audrey; Housden, Amy; Foos, Marianna; Randkelv, Sakara; Kelley, Colleen; Namgyal, Pema; Villalta, Christians; Liu, Lu-Ping; Jiang, Xia; Huan-Huan, Qiao; Wang, Xia; Fujiyama, Asao; Toyoda, Atsushi; Ayers, Kathleen; Blum, Allison; Czech, Benjamin; Neumuller, Ralph; Yan, Dong; Cavallaro, Amanda; Hibbard, Karen; Hall, Don; Cooley, Lynn; Hannon, Gregory J.; Lehmann, Ruth; Parks, Annette; Mohr, Stephanie E.; Ueda, Ryu; Kondo, Shu; Ni, Jian-Quan; Perrimon, Norbert

2015-01-01

To facilitate large-scale functional studies in Drosophila, the Drosophila Transgenic RNAi Project (TRiP) at Harvard Medical School (HMS) was established along with several goals: developing efficient vectors for RNAi that work in all tissues, generating a genome-scale collection of RNAi stocks with input from the community, distributing the lines as they are generated through existing stock centers, validating as many lines as possible using RT–qPCR and phenotypic analyses, and developing tools and web resources for identifying RNAi lines and retrieving existing information on their quality. With these goals in mind, here we describe in detail the various tools we developed and the status of the collection, which is currently composed of 11,491 lines and covering 71% of Drosophila genes. Data on the characterization of the lines either by RT–qPCR or phenotype is available on a dedicated website, the RNAi Stock Validation and Phenotypes Project (RSVP, http://www.flyrnai.org/RSVP.html), and stocks are available from three stock centers, the Bloomington Drosophila Stock Center (United States), National Institute of Genetics (Japan), and TsingHua Fly Center (China). PMID:26320097

Validation of QTL in commercial-type pigs at USMARC

USDA-ARS?s Scientific Manuscript database

The US Meat Animal Research Center’s commercial swine resource population was a closed population maintained for 10 generations and produced over 40,000 pigs with basic phenotypic measurements. Approximately 3,000 of the most heavily phenotyped pigs as well as all boars used were genotyped with the ...

Replication and validation of genome-wide associations with feed efficiency of dairy cattle

USDA-ARS?s Scientific Manuscript database

Improving feed efficiency in dairy production is an important endeavor as it can reduce feed costs and mitigate negative impacts of production on the environment. Feed efficiency is a multivariate phenotype characterized by a variety of phenotypic variables such as dry matter intake, body weight gai...

A humanoid mouse model of autism.

PubMed

Takumi, Toru

2010-10-01

Even now fruit of the human genome project is available, we have difficulties to approach neuropsychiatric disorders at the molecular level. Autism is a complex psychiatric illness but has received considerable attention as a developmental brain disorder not only from basic researchers but also from society. Substantial evidence suggests that chromosomal abnormalities contribute to autism risk. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We succeeded to generate mice with a 6.3-Mb-wide interstitial duplication in mouse chromosome 7c that is highly syntenic to human 15q11-13 by using a Cre-loxP-based chromosome-engineering technique. The only paternally duplicated mice display autistic behavioral features such as poor social interaction and stereotypical behavior, and exhibit a developmental abnormality in ultrasonic vocalizations as well as anxiety. The detailed analysis focusing on a non-coding small nucleolar RNA, MBII52, within the duplicated region, revealed that the paternally duplicated mice alter the editing ratio of serotonin (5-HT) 2c receptor pre-mRNA and intracellular calcium responses by a 5-HT2c receptor specific agonist are changed in neurons. This result may explain one of molecular mechanisms of abnormal behaviors in the paternal duplicated mice. The first chromosome-engineered mouse model for human chromosome 15q11-13 duplication fulfills not only face validity of human autistic phenotypes but also construct validity based on human chromosome abnormality. This model will be a founder mouse for forward genetics of autistic disease and an invaluable tool for its therapeutic development. Copyright © 2010 Elsevier B.V. All rights reserved.

Neuropsychological and socio-occupational functioning in young psychiatric outpatients: a longitudinal investigation.

PubMed

Lee, Rico S C; Hermens, Daniel F; Redoblado-Hodge, M Antoinette; Naismith, Sharon L; Porter, Melanie A; Kaur, Manreena; White, Django; Scott, Elizabeth M; Hickie, Ian B

2013-01-01

Clinical symptoms and neuropsychological deficits are longitudinally associated with functional outcome in chronic psychiatric cohorts. The current study extended these findings to young and early-course psychiatric outpatients, with the aim of identifying cognitive markers that predict later socio-occupational functioning. At baseline, 183 young psychiatric outpatients were assessed. Ninety-three returned for follow-up (M = 21.6 years old; SD = 4.5) with an average re-assessment interval of 21.6 months (SD = 7.0), and primary diagnoses of major depressive disorder (n = 34), bipolar disorder (n = 29), or psychosis (n = 30). The primary outcome measure was cross-validated with various other functional measures and structural equation modelling was used to map out the interrelationships between predictors and later functional outcome. Good socio-occupational functioning at follow-up was associated with better quality of life, less disability, current employment and being in a romantic relationship. The final structural equation model explained 47.5% of the variability in functional outcome at follow-up, with baseline neuropsychological functioning (a composite of memory, working memory and attentional switching) the best independent predictor of later functional outcome. Notably, depressive and negative symptoms were only associated with functioning cross-sectionally. Diagnosis at follow-up was not associated with functional outcome. Neuropsychological functioning was the single best predictor of later socio-occupational outcome among young psychiatric outpatients. Therefore, framing psychiatric disorders along a neuropsychological continuum is likely to be more useful in predicting functional trajectory than traditional symptom-based classification systems. The current findings also have implications for early intervention utilising cognitive remediation approaches.

Is Psychiatry Scientific? A Letter to a 21st Century Psychiatry Resident

PubMed Central

2013-01-01

During the development of the DSM-5, even the lay press questioned psychiatr's scientific validity. This review provides 21st century psychiatry residents with ways of answering these attacks by defining the concepts and history of psychiatry (a branch of medicine), medicine and science. Psychiatric language has two levels: first, describing symptoms and signs (19th century descriptive psychopathology developed in France and Germany), and second, describing disorders (psychiatric nosology was developed in the early 20th century by Kraepelin and resuscitated by the US neo-Kraepelinian revolution leading to the DSM-III). Science is a complex trial-and-error historical process that can be threatened by those who believe too much in it and disregard its limitations. The most important psychiatric advances, electroconvulsive therapy and major psychopharmacological agents, were discovered by "chance", not by scientific planning. Jaspers's General Psychopathology is a complex 100-year-old book that describes: 1) psychiatric disorders as heterogeneous and 2) psychiatry as a hybrid scientific discipline requiring a combination of understanding (a social science method) and explanation (a natural science method). In the 21st century Berrios reminds us of psychiatry's unfortunate methodological issues due to hybrid symptoms and disorders, some of which are better understood as problems in communication between interacting human beings; in those situations neuroscience methods such as brain imaging make no sense. A new language is needed in psychiatry. East Asian psychiatry residents, who are not particularly attached to the antiquated language currently used, may be particularly equipped for the task of recreating psychiatric language using 21st century knowledge. PMID:24302942

Comorbidity of substance use with depression and other mental disorders: from Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) to DSM-V.

PubMed

Nunes, Edward V; Rounsaville, Bruce J

2006-09-01

To arrive at recommendations for addressing co-occurring psychiatric and substance use disorders in the development of the Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-V) criteria. Synthesis of findings of other papers from a consensus conference and from the literature on diagnosis and treatment of co-occurring psychiatric and substance use disorders. Most of the relevant studies examine co-occurring depression. The diagnosis and treatment of psychiatric syndromes that co-occur with substance use disorders has been a source of controversy, fueled in part by limitations of pre-DSM-IV nosologies. The DSM-IV scheme of classifying co-occurring disorders as primary (also referred to as independent) or substance-induced has promise in terms of good predictive validity, although pertinent longitudinal and treatment studies are limited. The substance-induced category answers the need of clinicians for a way to categorize patients with clinically significant psychiatric symptoms that occur in the setting of ongoing substance use. DSM-V should retain the primary (independent) and substance-induced categories. In DSM-IV these categories are broadly defined and leave much to clinical judgement. Existing data sets should be brought to bear to refine the criteria, making them more detailed with clearer anchor points and more specificity around particular substances and psychiatric syndromes. More longitudinal studies and clinical trials are also needed. Looking beyond DSM-V, co-occurring psychiatric syndromes are likely to be important in the quest for a nosology founded on pathophysiology.

Population based, controlled study of behavioural problems and psychiatric disorders in low birthweight children at 11 years of age

PubMed Central

Elgen, I; Sommerfelt, K; Markestad, T

2002-01-01

Objective: To evaluate the risk of long term behavioural problems and psychiatric disorders associated with being born with low birth weight. Design/study groups: A population based, controlled follow up study at 11 years of age of 130 low birthweight (LBW) children weighing less than 2000 g at birth who were without major handicaps, and a random sample of 131 normal birthweight (NBW) children born at term weighing over 3000 g. Main outcome measures: Validated questionnaires addressing behaviour completed by mothers and teachers and child evaluation by child psychiatrist using a semistructured interview. Results: Behavioural problems, as defined by abnormal scores on more than four of 32 measures, were found in 40% of LBW children compared with 7% of NBW children (odds ratio (OR) 8.2, 95% confidence interval (CI) 3 to 25, p = 0001). A psychiatric disorder was diagnosed in 27% of the LBW children compared with 9% of the NBW children (OR 3.1, 95% CI 1.5 to 6.5, p = 0.001). The LBW children were more often inattentive, had social problems, and low self esteem. None of the pre-, neo-, or peri-natal variables in the LBW group were statistically significant predictors of behavioural outcomes or the presence of psychiatric disorders. Behavioural problems and psychiatric disorders were as common in those with birth weight less than 1500 g as those with birth weight 1500–2000 g. Conclusion: An increased risk of behavioural problems and psychiatric disorders persists in LBW adolescents. PMID:12193521

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.

PubMed

Murphy, Melissa M; Lindsey Burrell, T; Cubells, Joseph F; España, Roberto Antonio; Gambello, Michael J; Goines, Katrina C B; Klaiman, Cheryl; Li, Longchuan; Novacek, Derek M; Papetti, Ava; Sanchez Russo, Rossana Lucia; Saulnier, Celine A; Shultz, Sarah; Walker, Elaine; Mulle, Jennifer Gladys

2018-06-08

3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes. We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR). The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of the disorder. Our project describes the protocol for a prospective study of the behavioral and clinical phenotype associated with 3q29 deletion syndrome. The paradigm described here could easily be adapted to study additional CNV or single gene disorders with high risk for neuropsychiatric phenotypes, and/or transferred to other study sites, providing a means for data harmonization and cross-disorder analysis.

Predictive Validity of the Suicide Trigger Scale (STS-3) for Post-Discharge Suicide Attempt in High-Risk Psychiatric Inpatients

PubMed Central

Yaseen, Zimri S.; Kopeykina, Irina; Gutkovich, Zinoviy; Bassirnia, Anahita; Cohen, Lisa J.; Galynker, Igor I.

2014-01-01

Background The greatly increased risk of suicide after psychiatric hospitalization is a critical problem, yet we are unable to identify individuals who would attempt suicide upon discharge. The Suicide Trigger Scale v.3 (STS-3), was designed to measure the construct of an affective ‘suicide trigger state’ hypothesized to precede a suicide attempt (SA). This study aims to test the predictive validity of the STS-3 for post-discharge SA on a high-risk psychiatric-inpatient sample. Methods The STS-3, and a psychological test battery measuring suicidality, mood, impulsivity, trauma history, and attachment style were administered to 161 adult psychiatric patients hospitalized following suicidal ideation (SI) or SA. Receiver Operator Characteristic and logistic regression analyses were used to assess prediction of SA in the 6-month period following discharge from hospitalization. Results STS-3 scores for the patients who made post-discharge SA followed a bimodal distribution skewed to high and low scores, thus a distance from median transform was applied to the scores. The transformed score was a significant predictor of post-discharge SA (AUC 0.731), and a subset of six STS-3 scale items was identified that produced improved prediction of post-discharge SA (AUC 0.814). Scores on C-SSRS and BSS were not predictive. Patients with ultra-high (90th percentile) STS-3 scores differed significantly from ultra-low (10th percentile) scorers on measures of affective intensity, depression, impulsiveness, abuse history, and attachment security. Conclusion STS-3 transformed scores at admission to the psychiatric hospital predict suicide attempts following discharge among the high-risk group of suicidal inpatients. Patients with high transformed scores appear to comprise two clinically distinct groups; an impulsive, affectively intense, fearfully attached group with high raw STS-3 scores and a low-impulsivity, low affect and low trauma-reporting group with low raw STS-3 scores. These groups may correspond to low-plan and planned suicide attempts, respectively, but this remains to be established by future research. PMID:24466229

Reliability and validity of a Japanese version of the Cambridge depersonalization scale as a screening instrument for depersonalization disorder.

PubMed

Sugiura, Miyuki; Hirosawa, Masataka; Tanaka, Sumio; Nishi, Yasunobu; Yamada, Yasuyuki; Mizuno, Motoki

2009-06-01

The Cambridge Depersonalization Scale (CDS) is an instrument that has obtained reliability and validity in some countries for use in detecting depersonalization disorder under clinical conditions, but not yet in Japan under non-psychiatric conditions. The purposes of this study were to develop a Japanese version of the CDS (J-CDS) and to examine its reliability and validity as an instrument for screening depersonalization disorder under non-clinical conditions. The CDS was translated from English into Japanese and then back-translated into English by a native English-speaking American. After making the J-CDS, we examined its reliability and validity. Questionnaires that were composed of J-CDS, the Dissociative Experience Scale (DES), the Zung self-rating scale and the Maudsley Obsessional-Compulsive Inventory were administrated to 59 participants (12 patients with depersonalization disorder, 11 individuals who had recovered from depersonalization and 36 healthy controls). Cronbach's alpha and split-half reliability were 0.94 and 0.93, respectively. The J-CDS score in the depersonalization group was significantly higher than in the healthy control group. The J-CDS score was significantly correlated with scores of total DES, and DES-depersonalization. The best compromise between the true positive and false negative rate was at a cut-off point of 60, yielding a sensitivity of 1.00 and a specificity of 0.96. In this study, J-CDS showed good reliability and validity. The best cut-off point, when we use this for distinguishing individuals with depersonalization disorder from individuals without psychiatric disorders, is 60 points.

[French psychiatric therapeutic system for adults, an overview of mental health legislations].

PubMed

Oshima, Kazunari; Abe, Yuichiro

2012-01-01

In this article, the authors present an overview of the current French psychiatric therapeutic system for adults and legislation focusing on hospitalization procedures and patients' rights advocacy. The aim of this article is to compare the psychiatric therapeutic system in France with that in Japan and to reflect on problems related to involuntary hospitalization in Japan, especially "hospitalization for medical care and protection." French psychiatry has been developing for about 150 years, and is based on the 1838 Statute (la loi 1838). Historically, J-E. Esquirol, defined two modalities of hospital admission: voluntary hospitalization and compulsory hospitalization. The 1838 statute also stipulated in-patients' rights. In the 1960's, the sector psychiatric therapeutic system, "sectorisation," was introduced in France. According to this system, the continuity of treatment is regarded as important and all people with psychiatric disorders are treated continuously by the same therapeutic team in a sector that comprised of 70,000 inhabitants. Following this, the psychiatric ordinance of 1986 defined additionally 12 types of new therapeutic structures. It elaborated French community psychiatry with various intra-/extra-hospital institutions, and also encouraged "hospitalization with consent" (Hospitalisation libre), thus placing more importance on the subjective judgements and autonomy of patients. In accord with "sectorisation", the law of 1990 concerning hospitalization and the advocacy of inpatients' rights defined new procedures of psychiatric hospitalization: "hospitalization at the request of a third party" (Hospitalisation sur demande d'un tiers) and "compulsory hospitalisation" (Hospitalisation d'office). The reform of the law in 2011 went so far as to change the name of each category of admission: i.e. substituting "psychiatric medical care" for "hospitalisation". It also introduces an evaluation system to review involuntary hospitalization after 24 hours, 72 hours and 15 days during the early stages of hospitalization. This demonstrates the importance of judicial inspection in advocating for clients in determining the continuation of the psychiatric hospitalization. In discussion, we propose three suggestions in terms of quality of treatment and patients' rights advocacy concerning the future reform of psychiatric legislation in Japan: 1) institute an evaluation system to examine the validity of involuntary hospitalization, especially in the early phase of hospitalization; 2) recognize the necessity of making third parties such as Psychiatric Review Board or the courts responsive to the needs of psychiatric patients 3) ameliorate the Japanese Protector System for patients to bring it in line with contemporary contractual treatment of patients and to show a greater respect for patients' autonomy.

[Prevalence of psychiatric disorders in French general practice using the patient health questionnaire: comparison with GP case-recognition and psychotropic medication prescription].

PubMed

Norton, J; de Roquefeuil, G; David, M; Boulenger, J-P; Ritchie, K; Mann, A

2009-12-01

Psychiatric disorders, mainly depression and anxiety, are frequently encountered in primary care and are a major cause of distress and disability. Nearly half of cases go unnoticed and among those that are recognised, many do not receive adequate treatment. In France, there is limited research concerning the prevalence, detection and management of these conditions in primary care. To estimate the prevalence of psychiatric disorders, overall and for the main psychiatric diagnostic categories, encountered in primary care; to describe general practitioners' (GPs') case identification rate; to examine psychotropic medication prescription according to diagnosis, in a regionally representative sample of GP attenders. GP practicing standard general practice in an urban area of the city of Montpellier and a nearby semi-rural region were recruited to participate. The response rate was 32.8% (n=41). Five additional GP almost exclusively offering homeopathy and acupuncture were recruited nonrandomly for convenience purposes. In each GP surgery, consecutive patients entering the waiting room were invited by a research assistant to participate until 25 patients per GP were recruited. Each participant completed self-report questionnaires in the waiting time, including the patient health questionnaire (PHQ), which yields provisional DSM-IV diagnoses. The GP completed a brief questionnaire during the consultation, giving his/her rating of the severity of any psychiatric disorder present and action taken. The patient response rate was 89.8%. In all, 14.9% of patients reached DSM-IV criteria for major depression or anxiety disorder on the PHQ (9.1% for major depression, 7.5% for panic disorder; 6% for other anxiety disorders). For the subthreshold categories, 7.4% met criteria for other depressive disorders, 11.8% for somatoform disorders and 10.9% for probable alcohol abuse or dependence. 66.3% of patients with DSM-IV diagnoses of major depression or anxiety disorder were identified by the GP as having a psychiatric disorder. The identification rate was 51% for all depressive disorders, anxiety and somatoform disorders. Of patients receiving a prescription for anxiolytic or antidepressant medication on the survey day, 80% were classified as cases of psychiatric disorder by the GP. Only 48.8% met criteria for major depression or anxiety disorder on the PHQ. This study highlights the frequency of psychiatric disorders in a regional study of French general practice. Overall, prevalence rates were similar to those found elsewhere, except for probable alcohol abuse and dependence, which was considerably higher than in the USA PHQ validation study. As in other countries, GP identified roughly half of psychiatric cases. Furthermore, half of patients treated by anxiolytic or antidepressant medication did not meet the diagnostic criteria on the survey day for which these medications have mainly shown their efficacy. This confirms the French paradox of one of the highest psychotropic medication consumption rates in Europe despite many cases of depression remaining untreated. The PHQ could be a rapid and acceptable diagnostic aid tool for French general practice but first needs to be validated against the diagnosis of mental health professionals in this setting.

A Comparative Analysis of MMPI-2 Malingering Detection Models among Inmates

ERIC Educational Resources Information Center

Steffan, Jarrod S.; Morgan, Robert D.; Lee, Jeahoon; Sellbom, Martin

2010-01-01

There are several strategies, or models, for combining the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) validity indicators to detect malingered psychiatric symptoms. Some scholars have recommended that an elevated F (Infrequency) score should be followed by the inspection of Fp (Infrequency-Psychopathology), whereas a recent…

Clinical Utility and "DSM-V"

ERIC Educational Resources Information Center

Mullins-Sweatt, Stephanie N.; Widiger, Thomas A.

2009-01-01

The construction of the American Psychiatric Association's diagnostic manual has been guided primarily by concerns of construct validity rather than of clinical utility, despite claims by its authors that the highest priority has in fact been clinical utility. The purpose of this article was to further articulate the concept and importance of…

The Occupational Performance History Interview: Evidence for Three Underlying Constructs of Occupational Adaptation.

ERIC Educational Resources Information Center

Mallinson, Trudy; Mahaffey, Lisa; Kielhofner, Gary

1998-01-01

Data from 20 psychiatric clients were used to test the construct validity of the Occupational Performance History Interview, which gathers information on a person's past and present functioning. The instrument appears to measure three underlying constructs--occupational competence, identity, and environment--rather than occupational adaptation.…

Somatoform disorder as a predictor of interstitial cystitis/bladder pain syndrome: Evidence from a nested case-control study and a retrospective cohort study.

PubMed

Chen, I-Chun; Lee, Ming-Huei; Lin, Hsuan-Hung; Wu, Shang-Liang; Chang, Kun-Min; Lin, Hsiu-Ying

2017-05-01

Interstitial cystitis/bladder pain syndrome (IC/BPS) has several well-known comorbid psychiatric manifestations, including insomnia, anxiety, and depression. We hypothesized that somatoform disorder, which is a psychosomatic disease, can be used as a sensitive psychiatric phenotype of IC/BPS. We investigated whether somatoform disorder increases the risk of IC/BPS.A nested case-control study and a retrospective cohort study were followed up over a 12-year period (2002-2013) in the Taiwan Health Insurance Reimbursement Database. In the nested case-control study, 1612 patients with IC/BPS were matched in a 1:2 ratio to 3224 controls based on propensity scores. The odds ratio for somatoform disorder was calculated using conditional logistic regression analysis. In the retrospective cohort study, 1436 patients with somatoform disorder were matched in a 1:2 ratio to 2872 patients with nonsomatoform disorder based on propensity scores. Cox regression analysis was used to estimate the hazard ratio associated with the development of IC/BPS in patients with somatoform disorder, and the cumulative survival probability was tested using the Kaplan-Meier analysis.We found that the odds ratio for somatoform disorder was 2.46 (95% confidence interval [CI], 1.05-5.76). Although the average time until IC/BPS development in the control subjects was 11.5 ± 1.3 years, this interval was shorter in patients with somatoform disorder (6.3 ± 3.6 years). The hazard ratio for developing IC/BPS was 2.50 (95% CI 1.23-5.58); the adjusted hazard ratio was 2.26 (95% CI 1.002-5.007). The patients and controls also differed significantly in their cumulative survival probability for IC/BPS (log rank P < .05).Evidence from the nested case-control study and retrospective cohort study consistently indicated that somatoform disorder increases the risk for IC/BPS. Our study suggests that somatoform disorder can be used as a sensitive psychiatric phenotype to predict IC/BPS. Any past history of somatoform disorder should be documented while examining patients with IC/BPS.

Multiple sclerosis with predominant, severe cognitive impairment

PubMed Central

Staff, Nathan P.; Lucchinetti, Claudia F.; Keegan, B. Mark

2009-01-01

Objective To describe the characteristics of multiple sclerosis (MS) presenting with severe cognitive impairment as its primary disabling manifestation. Design Retrospective case series. Setting Tertiary referral center. Patients Patients were identified through the Mayo Clinic data retrieval system (1996–2008) with definite MS (McDonald criteria) and severe cognitive impairment as their primary neurological symptom without accompanying significant MS-related impairment or alternative diagnosis for cognitive dysfunction. Twenty-three patients meeting inclusion criteria were compared regarding demographics, clinical course and radiological features. Main Outcome Measures Demographic, clinical, and radiological characteristics of the disease. Results Twelve patients were men. The median age of the first clinical symptom suggestive of CNS demyelination was 33 years, and severe MS-related cognitive impairment developed at a median of 39 years. Cognitive impairment could be dichotomized as subacute fulminant (n=9) or chronic progressive (n=14) in presentation, which corresponded to subsequent relapsing or progressive MS courses. Study patients commonly exhibited psychiatric (65%), mild cerebellar (57%) and cortical symptoms and signs (e.g. seizure, aphasia, apraxia) (39%). Fourteen of 21 (67%), where documented, smoked cigarettes. Brain MRI demonstrated diffuse cerebral atrophy in 16 and gadolinium enhancing lesions in 11. Asymptomatic spinal cord MRI lesions were present in 12 of 16 patients (75%). Immunomodulatory therapies were generally ineffective in improving these patients. Conclusions We describe patients with MS whose clinical phenotype is characterized by severe cognitive dysfunction and prominent cortical and psychiatric signs presenting as a subacute fulminant or chronic progressive clinical course. Cigarette smokers may be over represented in this phenotype. PMID:19752304

Irish study of high-density Schizophrenia families: Field methods and power to detect linkage

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kendler, K.S.; Straub, R.E.; MacLean, C.J.

Large samples of multiplex pedigrees will probably be needed to detect susceptibility loci for schizophrenia by linkage analysis. Standardized ascertainment of such pedigrees from culturally and ethnically homogeneous populations may improve the probability of detection and replication of linkage. The Irish Study of High-Density Schizophrenia Families (ISHDSF) was formed from standardized ascertainment of multiplex schizophrenia families in 39 psychiatric facilities covering over 90% of the population in Ireland and Northern Ireland. We here describe a phenotypic sample and a subset thereof, the linkage sample. Individuals were included in the phenotypic sample if adequate diagnostic information, based on personal interview and/ormore » hospital record, was available. Only individuals with available DNA were included in the linkage sample. Inclusion of a pedigree into the phenotypic sample required at least two first, second, or third degree relatives with non-affective psychosis (NAP), one of whom had schizophrenia (S) or poor-outcome schizoaffective disorder (PO-SAD). Entry into the linkage sample required DNA samples on at least two individuals with NAP, of whom at least one had S or PO-SAD. Affection was defined by narrow, intermediate, and broad criteria. 75 refs., 6 tabs.« less

Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes.

PubMed

Gkogkas, Christos G; Khoutorsky, Arkady; Cao, Ruifeng; Jafarnejad, Seyed Mehdi; Prager-Khoutorsky, Masha; Giannakas, Nikolaos; Kaminari, Archontia; Fragkouli, Apostolia; Nader, Karim; Price, Theodore J; Konicek, Bruce W; Graff, Jeremy R; Tzinia, Athina K; Lacaille, Jean-Claude; Sonenberg, Nahum

2014-12-11

Fragile X syndrome (FXS) is the leading genetic cause of autism. Mutations in Fmr1 (fragile X mental retardation 1 gene) engender exaggerated translation resulting in dendritic spine dysmorphogenesis, synaptic plasticity alterations, and behavioral deficits in mice, which are reminiscent of FXS phenotypes. Using postmortem brains from FXS patients and Fmr1 knockout mice (Fmr1(-/y)), we show that phosphorylation of the mRNA 5' cap binding protein, eukaryotic initiation factor 4E (eIF4E), is elevated concomitant with increased expression of matrix metalloproteinase 9 (MMP-9) protein. Genetic or pharmacological reduction of eIF4E phosphorylation rescued core behavioral deficits, synaptic plasticity alterations, and dendritic spine morphology defects via reducing exaggerated translation of Mmp9 mRNA in Fmr1(-/y) mice, whereas MMP-9 overexpression produced several FXS-like phenotypes. These results uncover a mechanism of regulation of synaptic function by translational control of Mmp-9 in FXS, which opens the possibility of new treatment avenues for the diverse neurological and psychiatric aspects of FXS. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Developmental suppression of schizophrenia-associated miR-137 alters sensorimotor function in zebrafish

PubMed Central

Giacomotto, J; Carroll, A P; Rinkwitz, S; Mowry, B; Cairns, M J; Becker, T S

2016-01-01

The neurodevelopmentally regulated microRNA miR-137 was strongly implicated as risk locus for schizophrenia in the most recent genome wide association study coordinated by the Psychiatric Genome Consortium (PGC). This molecule is highly conserved in vertebrates enabling the investigation of its function in the developing zebrafish. We utilized this model system to achieve overexpression and suppression of miR-137, both transiently and stably through transgenesis. While miR-137 overexpression was not associated with an observable specific phenotype, downregulation by antisense morpholino and/or transgenic expression of miR-sponge RNA induced significant impairment of both embryonic and larval touch-sensitivity without compromising overall anatomical development. We observed miR-137 expression and activity in sensory neurons including Rohon–Beard neurons and dorsal root ganglia, two neuronal cell types that confer touch-sensitivity in normal zebrafish, suggesting a role of these cell types in the observed phenotype. The lack of obvious anatomical or histological pathology in these cells, however, suggested that subtle axonal network defects or a change in synaptic function and neural connectivity might be responsible for the behavioral phenotype rather than a change in the cellular morphology or neuroanatomy. PMID:27219344

Clinical validation of a non-heteronormative version of the Social Interaction Anxiety Scale (SIAS).

PubMed

Lindner, Philip; Martell, Christopher; Bergström, Jan; Andersson, Gerhard; Carlbring, Per

2013-12-19

Despite welcomed changes in societal attitudes and practices towards sexual minorities, instances of heteronormativity can still be found within healthcare and research. The Social Interaction Anxiety Scale (SIAS) is a valid and reliable self-rating scale of social anxiety, which includes one item (number 14) with an explicit heteronormative assumption about the respondent's sexual orientation. This heteronormative phrasing may confuse, insult or alienate sexual minority respondents. A clinically validated version of the SIAS featuring a non-heteronormative phrasing of item 14 is thus needed. 129 participants with diagnosed social anxiety disorder, enrolled in an Internet-based intervention trial, were randomly assigned to responding to the SIAS featuring either the original or a novel non-heteronormative phrasing of item 14, and then answered the other item version. Within-subject, correlation between item versions was calculated and the two scores were statistically compared. The two items' correlations with the other SIAS items and other psychiatric rating scales were also statistically compared. Item versions were highly correlated and scores did not differ statistically. The two items' correlations with other measures did not differ statistically either. The SIAS can be revised with a non-heteronormative formulation of item 14 with psychometric equivalence on item and scale level. Implications for other psychiatric instruments with heteronormative phrasings are discussed.

Familial expressed emotion: outcome and course of Israeli patients with schizophrenia.

PubMed

Marom, Sofi; Munitz, Hanan; Jones, Peter B; Weizman, Abraham; Hermesh, Haggai

2002-01-01

We investigated the validity of expressed emotion (EE) in Israel. The study sample consisted of 108 patients with schizophrenia and 15 with schizoaffective disorder, and their key relatives. EE was rated with the Five Minute Speech Sample (FMSS). Patient households were categorized by EE and its two components: criticism and emotional overinvolvement. Patients were rated with the Brief Psychiatric Rating Scale (BPRS) at admission, at discharge, and 6 months after discharge. Readmissions were determined over a 9-month period. High EE and particularly high criticism were significantly associated with poorer outcome (higher rate of and earlier readmissions, and higher BPRS score at followup) and worse illness course (higher annual number of prior psychiatric hospital admissions). Odds ratios between high EE and high criticism and readmission were 2.6 and 3.5, respectively. The strongest predictor of earlier readmission was the interaction of high criticism x poor compliance with medication. The results converge to further confirm the notion that familial EE is a valid crosscultural predictor of the clinical course of schizophrenia. Moreover, EE has predictive power in very chronic samples. Criticism appears to be the crucial EE component linked with short-term outcome. Treatment aimed at reducing high criticism is warranted. The FMSS appears to have predictive validity.

Clinical decision making in response to performance validity test failure in a psychiatric setting.

PubMed

Marcopulos, Bernice A; Caillouet, Beth A; Bailey, Christopher M; Tussey, Chriscelyn; Kent, Julie-Ann; Frederick, Richard

2014-01-01

This study examined the clinical utility of a performance validity test (PVT) for screening consecutive referrals (N = 436) to a neuropsychology service at a state psychiatric hospital treating both civilly committed and forensic patients. We created a contingency table with Test of Memory Malingering (TOMM) pass/fail (355/81) and secondary gain present/absent (181/255) to examine pass rates associated with patient demographic, clinical and forensic status characteristics. Of the 81 failed PVTs, 48 had secondary gain defined as active criminal legal charges; 33 failed PVTs with no secondary gain. These individuals tended to be older, female, Caucasian, and civilly committed compared with the group with secondary gain who failed. From estimations of TOMM False Positive Rate and True Positive Rate we estimated base rates of neurocognitive malingering for our clinical population using the Test Validation Summary (TVS; Frederick & Bowden, 2009 ). Although PVT failure is clearly more common in a group with secondary gain (31%), there were a number of false positives (11%). Clinical ratings of patients without gain who failed suggested cognitive deficits, behavioral issues, and inattention. Low scores on PVTs in the absence of secondary gain provide useful information on test engagement and can inform clinical decisions about testing.

An XML-based interchange format for genotype-phenotype data.

PubMed

Whirl-Carrillo, M; Woon, M; Thorn, C F; Klein, T E; Altman, R B

2008-02-01

Recent advances in high-throughput genotyping and phenotyping have accelerated the creation of pharmacogenomic data. Consequently, the community requires standard formats to exchange large amounts of diverse information. To facilitate the transfer of pharmacogenomics data between databases and analysis packages, we have created a standard XML (eXtensible Markup Language) schema that describes both genotype and phenotype data as well as associated metadata. The schema accommodates information regarding genes, drugs, diseases, experimental methods, genomic/RNA/protein sequences, subjects, subject groups, and literature. The Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB; www.pharmgkb.org) has used this XML schema for more than 5 years to accept and process submissions containing more than 1,814,139 SNPs on 20,797 subjects using 8,975 assays. Although developed in the context of pharmacogenomics, the schema is of general utility for exchange of genotype and phenotype data. We have written syntactic and semantic validators to check documents using this format. The schema and code for validation is available to the community at http://www.pharmgkb.org/schema/index.html (last accessed: 8 October 2007). (c) 2007 Wiley-Liss, Inc.

A Review of the Differences in Developmental, Psychiatric, and Medical Endophenotypes Between Males and Females with Autism Spectrum Disorder

PubMed Central

Rubenstein, Eric; Wiggins, Lisa D.; Lee, Li-Ching

2015-01-01

Autism spectrum disorder (ASD) is over four times more prevalent in males compared to females. Increased understanding of sex differences in ASD endophenotypes could add insight into possible etiologies and the assessment and management of the disorder. Consequently, the purpose of this review is to describe current literature regarding sex differences in the developmental, psychiatric, and medical endophenotypes of ASD in order to illustrate current knowledge and areas in need of further research. Our review found that repetitive behaviors and restricted interests are more common in males than females with ASD. Intellectual disability is more common in females than males with ASD. Attention to detail may be more common in males than females with ASD and epilepsy may be more common in females than males with ASD, although limited research in these areas prevent definitive conclusions from being drawn. There does not appear to be a sex difference in other developmental, psychiatric, and medical symptoms associated with ASD, or the research was contradictory or too sparse to establish a sex difference. Our review is unique in that it offers detailed discussion of sex differences in three major endophenotypes of ASD. Further research is needed to better understand why sex differences exist in certain ASD traits and to evaluate whether phenotypic sex differences are related to different pathways of development, assessment, and treatment of the disorder. PMID:26146472

P300 Source Localization Contrasts in Body-Focused Repetitive Behaviors and Tic Disorders

PubMed Central

Sauvé, Geneviève; O’Connor, Kieron P.; Blanchet, Pierre J.

2017-01-01

Tic disorders (TD) and body-focused repetitive behaviors (BFRB) have similar phenotypes that can be challenging to distinguish in clinical settings. Both disorders show high rates of comorbid psychiatric conditions, dysfunctional basal ganglia activity, atypical cortical functioning in the prefrontal and motor cortical regions, and cognitive deficits. Clinicians frequently confound the two disorders and it is important to find reliable objective methods to discriminate TD and BFRB. Neuropsychological tests and event-related potential (ERP) studies have yielded inconsistent results regarding a possible context updating deficit in TD and BFRB patients. However, most previous studies did not control for the presence of comorbid psychiatric condition and medication status, which might have confounded the findings reported to date. Hence, we aimed to investigate the psychophysiology of working memory using ERP in carefully screened TD and BFRB patients excluding those with psychiatric comorbidity and those taking psychoactive medication. The current study compared 12 TD patients, 12 BRFB patients, and 15 healthy control participants using a motor oddball task (button press). The P300 component was analyzed as an index of working memory functioning. Results showed that BFRB patients had decreased P300 oddball effect amplitudes over the right hemisphere compared to the TD and control groups. Clinical groups presented different scalp distributions compared to controls, which could represent a potential endophenotype candidate of BFRB and TD. PMID:28671557

Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

PubMed Central

Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil; Illarionova, Nina B.; Isaksen, Toke J.; Heuck, Anders; Clausen, Bettina H.; Füchtbauer, Ernst-Martin; Gramsbergen, Jan B.; Gunnarson, Eli; Aperia, Anita; Lauritzen, Martin; Lambertsen, Kate L.; Nissen, Poul; Lykke-Hartmann, Karin

2016-01-01

Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments and psychiatric manifestations, such as obsessive-compulsive disorder (OCD). FHM2 disease-mutations locate to the ATP1A2 gene encoding the astrocyte-located α2-isoform of the sodium-potassium pump (α2Na+/K+-ATPase). We show that knock-in mice heterozygous for the FHM2-associated G301R-mutation (α2+/G301R) phenocopy several FHM2-relevant disease traits e.g., by mimicking mood depression and OCD. In vitro studies showed impaired glutamate uptake in hippocampal mixed astrocyte-neuron cultures from α2G301R/G301R E17 embryonic mice, and moreover, induction of cortical spreading depression (CSD) resulted in reduced recovery in α2+/G301R male mice. Moreover, NMDA-type glutamate receptor antagonists or progestin-only treatment reverted specific α2+/G301R behavioral phenotypes. Our findings demonstrate that studies of an in vivo relevant FHM2 disease knock-in mouse model provide a link between the female sex hormone cycle and the glutamate system and a link to co-morbid psychiatric manifestations of FHM2. PMID:26911348

What can spontaneous fluctuations of the blood oxygenation-level-dependent signal tell us about psychiatric disorders?

PubMed

Fornito, Alex; Bullmore, Edward T

2010-05-01

Resting-state functional MRI (rs-fMRI) is an increasingly popular technique for studying brain dysfunction in psychiatric patients, and is widely assumed to measure intrinsic properties of functional brain organization. Here, we review rs-fMRI studies of psychiatric populations and consider how recent evidence concerning the neuronal basis, behavioural relevance, and the stability of rs-fMRI measures can inform and constrain interpretation of findings obtained using case-control designs. A range of rs-fMRI measures have been applied to different patient groups, although the findings have not always been consistent. The large-scale organization of rs-fMRI networks is robust and reproducible, and rs-fMRI measures show correlations with behavioural phenotypes relevant to psychiatry. However, evidence that such measures are also influenced by preceding psychological states and contexts, as well as individual variations in physiological arousal, may help to explain inconsistent findings in case-control comparisons. rs-fMRI measures show both stable and dynamic properties, the nature of which are only beginning to be uncovered. As such, interpreting significant differences between patients and controls on rs-fMRI measures as evidence for alterations in intrinsic functional brain organization should be done cautiously. Better understanding of the relationship between stable and transient aspects of spontaneous brain dynamics will be necessary to constrain interpretation of case-control studies and inform pathophysiological models.

Differences in social functioning among patients with major psychiatric disorders: Interpersonal communication is impaired in patients with schizophrenia and correlates with an increase in schizotypal traits.

PubMed

Yasuyama, Toshiki; Ohi, Kazutaka; Shimada, Takamitsu; Uehara, Takashi; Kawasaki, Yasuhiro

2017-03-01

Impaired social functioning is a hallmark of major psychiatric disorders. The purpose of this study was to detect a disorder-specific factor of social dysfunction among patients with major psychiatric disorders (PSY), including schizophrenia (SCZ), bipolar disorder (BIP) and major depressive disorder (MDD). Social functioning was assessed in patients with SCZ (n=80), BIP (n=27) or MDD (n=29) and healthy controls (HC, n=68) using the Social Functioning Scale (SFS). Compared to HC, the SCZ, BIP and MDD patient groups showed lower total SFS scores. No differences in the total scores for social functioning were observed between patient groups. We next investigated seven subscales of the SFS among PSY and observed significant diagnostic effects on all subscales of the SFS. Notably, patients with SCZ have poorer interpersonal communication than patients with MDD. Furthermore, the poorer interpersonal communication score was significantly correlated with an increase in schizotypal personality traits, as assessed by the Schizotypal Personality Questionnaire (SPQ) in HC. Although there were no differences in overall social functioning among PSY, disorder-specific factors, such as interpersonal communication, were evident in SCZ. The correlation between poor interpersonal communication and the increase in schizotypal traits suggests that poor interpersonal communication may be an intermediate phenotype of SCZ. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Increased carrier prevalence of deficient CYP2C9, CYP2C19 and CYP2D6 alleles in depressed patients referred to a tertiary psychiatric hospital.

PubMed

Ruaño, Gualberto; Villagra, David; Rahim, Umme Salma; Windemuth, Andreas; Kocherla, Mohan; Bower, Bruce; Szarek, Bonnie L; Goethe, John W

2008-11-01

This study compared the types and carrier prevalences of clinically significant DNA polymorphisms in the cytochrome P450 (CYP450) genes CYP2C9, CYP2C19 and CYP2D6 in major depressive disorder patients with a control group of nonpsychiatrically ill, medical outpatients. We conducted a case-control study using 73 psychiatric outpatients diagnosed with depression and referred to a tertiary center, The Institute of Living (Hartford, CT, USA), for treatment resistance or intolerable side-effects to psychotropic drugs. The controls were 120 cardiovascular patients from Hartford Hospital being treated for dyslipidemia but otherwise healthy and not psychiatrically ill. DNA typing to detect polymorphisms in the genes CYP2C9, CYP2C19 and CYP2D6 was accomplished with the Tag-It™ mutation detection assay and the Luminex xMAP ® system. The percentage of individuals in psychiatric versus control groups with two wild-type alleles for CYP2C9, CYP2C19 and CYP2D6 genes, were 50 versus 74% (p < 0.001), 71 versus 73% (not statistically significant) and 36 versus 43% (trend, p < 0.2), respectively. Within the psychiatric population, 57% of individuals were carriers of non-wild-type alleles for 2-3 genes, compared with 36% in the control population (p < 0.0001). The balance, 43% in the psychiatric population and 64% in the control, were carriers of non-wild-type alleles for none or one gene. These findings reveal that clinically relevant CYP2C9 polymorphisms occur more frequently in depressed psychiatric patients than in nonpsychiatric controls. The same trend was found for polymorphisms in the CYP2D6 gene. We found a significant cumulative metabolic deficiency in the psychiatric population for combinations of the CYP2C9, CYP2C19 and CYP2D6 genes. The significant enrichment of CYP2C9-deficient alleles in the psychiatric population validates a previously reported association of this gene with the risk for depression disorders. The high prevalence of carriers with deficient and null alleles suggests that CYP450 DNA typing may play a role in the management of psychiatric patients at tertiary care institutions.

EG-09EPIGENETIC PROFILING REVEALS A CpG HYPERMETHYLATION PHENOTYPE (CIMP) ASSOCIATED WITH WORSE PROGRESSION-FREE SURVIVAL IN MENINGIOMA

PubMed Central

Olar, Adriana; Wani, Khalida; Mansouri, Alireza; Zadeh, Gelareh; Wilson, Charmaine; DeMonte, Franco; Fuller, Gregory; Jones, David; Pfister, Stefan; von Deimling, Andreas; Sulman, Erik; Aldape, Kenneth

2014-01-01

BACKGROUND: Methylation profiling of solid tumors has revealed biologic subtypes, often with clinical implications. Methylation profiles of meningioma and their clinical implications are not well understood. METHODS: Ninety-two meningioma samples (n = 44 test set and n = 48 validation set) were profiled using the Illumina HumanMethylation450 BeadChip. Unsupervised clustering and analyses for recurrence-free survival (RFS) were performed. RESULTS: Unsupervised clustering of the test set using approximately 900 highly variable markers identified two clearly defined methylation subgroups. One of the groups (n = 19) showed global hypermethylation of a set of markers, analogous to CpG island methylator phenotype (CIMP). These findings were reproducible in the validation set, with 18/48 samples showing the CIMP-positive phenotype. Importantly, of 347 highly variable markers common to both the test and validation set analyses, 107 defined CIMP in the test set and 94 defined CIMP in the validation set, with an overlap of 83 markers between the two datasets. This number is much greater than expected by chance indicating reproducibly of the hypermethylated markers that define CIMP in meningioma. With respect to clinical correlation, the 37 CIMP-positive cases displayed significantly shorter RFS compared to the 55 non-CIMP cases (hazard ratio 2.9, p = 0.013). In an effort to develop a preliminary outcome predictor, a 155-marker subset correlated with RFS was identified in the test dataset. When interrogated in the validation dataset, this 155-marker subset showed a statistical trend (p < 0.1) towards distinguishing survival groups. CONCLUSIONS: This study defines the existence of a CIMP phenotype in meningioma, which involves a substantial proportion (37/92, 40%) of samples with clinical implications. Ongoing work will expand this cohort and examine identification of additional biologic differences (mutational and DNA copy number analysis) to further characterize the aberrant methylation subtype in meningioma. CIMP-positivity with aberrant methylation in recurrent/malignant meningioma suggests a potential therapeutic target for clinically aggressive cases.

Changes in Crohn's disease phenotype over time in the Chinese population: validation of the Montreal classification system.

PubMed

Chow, Dorothy K L; Leong, Rupert W L; Lai, Larry H; Wong, Grace L H; Leung, Wai-Keung; Chan, Francis K L; Sung, Joseph J Y

2008-04-01

Phenotypic evolution of Crohn's disease occurs in whites but has never been described in other populations. The Montreal classification may describe phenotypes more precisely. The aim of this study was to validate the Montreal classification through a longitudinal sensitivity analysis in detecting phenotypic variation compared to the Vienna classification. This was a retrospective longitudinal study of consecutive Chinese Crohn's disease patients. All cases were classified by the Montreal classification and the Vienna classification for behavior and location. The evolution of these characteristics and the need for surgery were evaluated. A total of 109 patients were recruited (median follow-up: 4 years, range: 6 months-18 years). Crohn's disease behavior changed 3 years after diagnosis (P = 0.025), with an increase in stricturing and penetrating phenotypes, as determined by the Montreal classification, but was only detected by the Vienna classification after 5 years (P = 0.015). Disease location remained stable on follow-up in both classifications. Thirty-four patients (31%) underwent major surgery during the follow-up period with the stricturing [P = 0.002; hazard ratio (HR): 3.3; 95% CI: 1.5-7.0] and penetrating (P = 0.03; HR: 5.8; 95% CI: 1.2-28.2) phenotypes according to the Montreal classification associated with the need for major surgery. In contrast, colonic disease was protective against a major operation (P = 0.02; HR: 0.3; 95% CI: 0.08-0.8). This is the first study demonstrating phenotypic evolution of Crohn's disease in a nonwhite population. The Montreal classification is more sensitive to behavior phenotypic changes than is the Vienna classification after excluding perianal disease from the penetrating disease category and was useful in predicting course and the need for surgery.

S100B overexpression increases behavioral and neural plasticity in response to the social environment during adolescence.

PubMed

Buschert, Jens; Hohoff, Christa; Touma, Chadi; Palme, Rupert; Rothermundt, Matthias; Arolt, Volker; Zhang, Weiqi; Ambrée, Oliver

2013-11-01

Genetic variants as well as increased serum levels of the neurotrophic factor S100B are associated with different psychiatric disorders. However, elevated S100B levels are also related to a better therapeutic outcome in psychiatric patients. The functional role of elevated S100B in psychiatric disorders is still unclear. Hence, this study was designed in order to elucidate the differential effects of S100B overexpression in interaction with chronic social stress during adolescence on emotional behavior and adult neurogenesis. S100B transgenic and wild-type mice were housed either in socially stable or unstable environments during adolescence, between postnatal days 28 and 77. In adulthood, anxiety-related behavior in the open field, dark-light, and novelty-induced suppression of feeding test as well as survival of proliferating hippocampal progenitor cells were assessed. S100B transgenic mice revealed significantly reduced anxiety-related behavior in the open field compared to wild-types when reared in stable social conditions. In contrast, when transgenic mice grew up in unstable social conditions, their level of anxiety-related behavior was comparable to the levels of wild-type mice. In addition, S100B overexpressing mice from unstable housing conditions displayed higher numbers of surviving newborn cells in the adult hippocampus which developed into mature neurons. In conclusion, elevated S100B levels increase the susceptibility to environmental stimuli during adolescence resulting in more variable behavioral and neural phenotypes in adulthood. In humans, this increased plasticity might lead to both, enhanced risk for psychiatric disorders in negative environments and improved therapeutic outcome in positive environments. Copyright © 2013 Elsevier Ltd. All rights reserved.

Identification of Common Neural Circuit Disruptions in Cognitive Control Across Psychiatric Disorders.

PubMed

McTeague, Lisa M; Huemer, Julia; Carreon, David M; Jiang, Ying; Eickhoff, Simon B; Etkin, Amit

2017-07-01

Cognitive deficits are a common feature of psychiatric disorders. The authors investigated the nature of disruptions in neural circuitry underlying cognitive control capacities across psychiatric disorders through a transdiagnostic neuroimaging meta-analysis. A PubMed search was conducted for whole-brain functional neuroimaging articles published through June 2015 that compared activation in patients with axis I disorders and matched healthy control participants during cognitive control tasks. Tasks that probed performance or conflict monitoring, response inhibition or selection, set shifting, verbal fluency, and recognition or working memory were included. Activation likelihood estimation meta-analyses were conducted on peak voxel coordinates. The 283 experiments submitted to meta-analysis included 5,728 control participants and 5,493 patients with various disorders (schizophrenia, bipolar or unipolar depression, anxiety disorders, and substance use disorders). Transdiagnostically abnormal activation was evident in the left prefrontal cortex as well as the anterior insula, the right ventrolateral prefrontal cortex, the right intraparietal sulcus, and the midcingulate/presupplementary motor area. Disruption was also observed in a more anterior cluster in the dorsal cingulate cortex, which overlapped with a network of structural perturbation that the authors previously reported in a transdiagnostic meta-analysis of gray matter volume. These findings demonstrate a common pattern of disruption across major psychiatric disorders that parallels the "multiple-demand network" observed in intact cognition. This network interfaces with the anterior-cingulo-insular or "salience network" demonstrated to be transdiagnostically vulnerable to gray matter reduction. Thus, networks intrinsic to adaptive, flexible cognition are vulnerable to broad-spectrum psychopathology. Dysfunction in these networks may reflect an intermediate transdiagnostic phenotype, which could be leveraged to advance therapeutics.

Molecular Phenotyping Combines Molecular Information, Biological Relevance, and Patient Data to Improve Productivity of Early Drug Discovery.

PubMed

Drawnel, Faye Marie; Zhang, Jitao David; Küng, Erich; Aoyama, Natsuyo; Benmansour, Fethallah; Araujo Del Rosario, Andrea; Jensen Zoffmann, Sannah; Delobel, Frédéric; Prummer, Michael; Weibel, Franziska; Carlson, Coby; Anson, Blake; Iacone, Roberto; Certa, Ulrich; Singer, Thomas; Ebeling, Martin; Prunotto, Marco

2017-05-18

Today, novel therapeutics are identified in an environment which is intrinsically different from the clinical context in which they are ultimately evaluated. Using molecular phenotyping and an in vitro model of diabetic cardiomyopathy, we show that by quantifying pathway reporter gene expression, molecular phenotyping can cluster compounds based on pathway profiles and dissect associations between pathway activities and disease phenotypes simultaneously. Molecular phenotyping was applicable to compounds with a range of binding specificities and triaged false positives derived from high-content screening assays. The technique identified a class of calcium-signaling modulators that can reverse disease-regulated pathways and phenotypes, which was validated by structurally distinct compounds of relevant classes. Our results advocate for application of molecular phenotyping in early drug discovery, promoting biological relevance as a key selection criterion early in the drug development cascade. Copyright © 2017 Elsevier Ltd. All rights reserved.

Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics

PubMed Central

Adams, David J; Adams, Niels C; Adler, Thure; Aguilar-Pimentel, Antonio; Ali-Hadji, Dalila; Amann, Gregory; André, Philippe; Atkins, Sarah; Auburtin, Aurelie; Ayadi, Abdel; Becker, Julien; Becker, Lore; Bedu, Elodie; Bekeredjian, Raffi; Birling, Marie-Christine; Blake, Andrew; Bottomley, Joanna; Bowl, Mike; Brault, Véronique; Busch, Dirk H; Bussell, James N; Calzada-Wack, Julia; Cater, Heather; Champy, Marie-France; Charles, Philippe; Chevalier, Claire; Chiani, Francesco; Codner, Gemma F; Combe, Roy; Cox, Roger; Dalloneau, Emilie; Dierich, André; Di Fenza, Armida; Doe, Brendan; Duchon, Arnaud; Eickelberg, Oliver; Esapa, Chris T; El Fertak, Lahcen; Feigel, Tanja; Emelyanova, Irina; Estabel, Jeanne; Favor, Jack; Flenniken, Ann; Gambadoro, Alessia; Garrett, Lilian; Gates, Hilary; Gerdin, Anna-Karin; Gkoutos, George; Greenaway, Simon; Glasl, Lisa; Goetz, Patrice; Da Cruz, Isabelle Goncalves; Götz, Alexander; Graw, Jochen; Guimond, Alain; Hans, Wolfgang; Hicks, Geoff; Hölter, Sabine M; Höfler, Heinz; Hancock, John M; Hoehndorf, Robert; Hough, Tertius; Houghton, Richard; Hurt, Anja; Ivandic, Boris; Jacobs, Hughes; Jacquot, Sylvie; Jones, Nora; Karp, Natasha A; Katus, Hugo A; Kitchen, Sharon; Klein-Rodewald, Tanja; Klingenspor, Martin; Klopstock, Thomas; Lalanne, Valerie; Leblanc, Sophie; Lengger, Christoph; le Marchand, Elise; Ludwig, Tonia; Lux, Aline; McKerlie, Colin; Maier, Holger; Mandel, Jean-Louis; Marschall, Susan; Mark, Manuel; Melvin, David G; Meziane, Hamid; Micklich, Kateryna; Mittelhauser, Christophe; Monassier, Laurent; Moulaert, David; Muller, Stéphanie; Naton, Beatrix; Neff, Frauke; Nolan, Patrick M; Nutter, Lauryl MJ; Ollert, Markus; Pavlovic, Guillaume; Pellegata, Natalia S; Peter, Emilie; Petit-Demoulière, Benoit; Pickard, Amanda; Podrini, Christine; Potter, Paul; Pouilly, Laurent; Puk, Oliver; Richardson, David; Rousseau, Stephane; Quintanilla-Fend, Leticia; Quwailid, Mohamed M; Racz, Ildiko; Rathkolb, Birgit; Riet, Fabrice; Rossant, Janet; Roux, Michel; Rozman, Jan; Ryder, Ed; Salisbury, Jennifer; Santos, Luis; Schäble, Karl-Heinz; Schiller, Evelyn; Schrewe, Anja; Schulz, Holger; Steinkamp, Ralf; Simon, Michelle; Stewart, Michelle; Stöger, Claudia; Stöger, Tobias; Sun, Minxuan; Sunter, David; Teboul, Lydia; Tilly, Isabelle; Tocchini-Valentini, Glauco P; Tost, Monica; Treise, Irina; Vasseur, Laurent; Velot, Emilie; Vogt-Weisenhorn, Daniela; Wagner, Christelle; Walling, Alison; Weber, Bruno; Wendling, Olivia; Westerberg, Henrik; Willershäuser, Monja; Wolf, Eckhard; Wolter, Anne; Wood, Joe; Wurst, Wolfgang; Yildirim, Ali Önder; Zeh, Ramona; Zimmer, Andreas; Zimprich, Annemarie

2015-01-01

The function of the majority of genes in the mouse and human genomes remains unknown. The mouse ES cell knockout resource provides a basis for characterisation of relationships between gene and phenotype. The EUMODIC consortium developed and validated robust methodologies for broad-based phenotyping of knockouts through a pipeline comprising 20 disease-orientated platforms. We developed novel statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power. We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which half had no prior functional annotation. We captured data from over 27,000 mice finding that 83% of the mutant lines are phenodeviant, with 65% demonstrating pleiotropy. Surprisingly, we found significant differences in phenotype annotation according to zygosity. Novel phenotypes were uncovered for many genes with unknown function providing a powerful basis for hypothesis generation and further investigation in diverse systems. PMID:26214591

[Forensic assessments from the Netherlands Institute of Forensic Psychiatry and Psychology in retrospect; applications of genetics and neuroscience, in 2000 and 2009].

PubMed

Ter Harmsel, J F; Molendijk, T; van El, C G; M'charek, A; Kempes, M; Rinne, T; Pieters, T

2016-01-01

Developments in neurosciences and genetics are relevant for forensic psychiatry. To find out whether and how genetic and neuroscientific applications are being used in forensic psychiatric assessments, and, if they are, to estimate to what extent new applications will fit in with these uses. We analysed 60 forensic psychiatric assessments from the Netherlands Institute of Forensic Psychiatry and Psychology, Pieter Baan Center, and 30 non-clinical assessments from 2000 and 2009. We found that (behavioral) genetic, neurological and neuropsychological applications played only a modest role in forensic psychiatric assessment and they represent different phases of the implementation process. Neuropsychological assessment already occupied a position of some importance, but needed to be better integrated. Applications from neurology were still being developed. Clinical genetic assessment was being used occasionally in order to diagnose a genetic syndrome with behavioral consequences. If further validated information becomes available in the future, it should be possible to integrate new research methods more fully into current clinical practice.

Impact of terrorism on health and Hospital Anxiety Depression Scale screening in medical students, Karachi, Pakistan.

PubMed

Nasim, Sara; Khan, Mahjabeen; Aziz, Sina

2014-03-01

To determine the association of terrorism with psychiatric morbidity by Hospital Anxiety Depression scale among medical students in Karachi, Pakistan. The questionnaire based cross-sectional survey was conducted from February to March 2011 and comprised students of the Institute of Physical and Medical Rehabilitation and the Dow Medical College, Dow University of Health Sciences, Karachi. The study tool was a validated Hospital Anxiety Depression scale questionnaire. The data was analysed on SPSS 16. Factor analysis was performed to check which factors had the most influence. Overall there were 1036 respondents. The impact of terrorism on physical, social and mental health was 40 (3.9%), 178 (17.2%) and 818 (79%) respectively. There was an association of terrorism in 980 (84.6%) respondents with psychiatric morbidity. There was an association of terrorism with psychiatric morbidity in majority of respondents. The significant risk factors were age, gender, physical, mental and social health and the desire to live in Pakistan.

Mental illness and legal fitness (competence) to stand trial in New York State: expert opinion and criminal defendants' psychiatric symptoms.

PubMed

Lee, Eugene; Rosner, Richard; Harmon, Ronnie

2014-07-01

Fitness to Stand Trial is a critical concept in the adjudication of justice-involved persons. A retrospective study was conducted to examine criminal defendants' specific psychiatric symptoms and those symptoms' associations with expert opinions on Competence to Stand Trial. One hundred charts were reviewed: 50 Cases (opined as Not Fit) were compared against 50 Controls (opined as Fit) with respect to ratings on the Brief Psychiatric Rating Scale (BPRS). A significance level of 0.001 was selected a priori. Statistically significant differences were found in seven of the eighteen BPRS symptom constructs (with the highest differences in Conceptual Disorganization and Unusual Thought Content) and two of the four BPRS higher-order syndrome factors (Thinking Disorder and Hostile-Suspiciousness). Consistent with previous reports, psychotic symptoms are found in this study to be inversely associated with Fitness. Validity, reliability, and limitations of this study, as well as directions for future research, are discussed herein. © 2014 American Academy of Forensic Sciences.

A history of health-related quality of life outcomes in psychiatry.

PubMed

Revicki, Dennis A; Kleinman, Leah; Cella, David

2014-06-01

Health-related quality of life (HRQoL) is a multidimensional concept that includes subjective reports of symptoms, side effects, functioning in multiple life domains, and general perceptions of life satisfaction and quality. Rather than estimating it from external observations, interview, or clinical assessment, it is best measured by direct query. Due to a perception that respondents may not be reliable or credible, there has been some reluctance to use self-report outcomes in psychiatry. More recently, and increasingly, HRQoL assessment through direct patient query has become common when evaluating a range of psychiatric, psychological, and social therapies. With few exceptions, psychiatric patients are credible and reliable reporters of this information. This article summarizes studies that highlight the development, validation, and application of HRQoL measures in psychiatry. Thoughtful application of these tools in psychiatric research can provide a much-needed patient perspective in the future of comparative effectiveness research, patient-centered outcomes research, and clinical care.

[Using projective tests in forensic psychiatry may lead to wrong conclusions. Only empirically tested tests should be used].

PubMed

Trygg, L; Dåderman, A M; Wiklund, N; Meurling, A W; Lindgren, M; Lidberg, L; Levander, S

2001-06-27

The use of projective and psychometric psychological tests at the Department of Forensic Psychiatry in Stockholm (Huddinge), Sweden, was studied for a population of 60 men, including many patients with neuropsychological disabilities and multiple psychiatric disorders. The results showed that the use of projective tests like Rorschach, Object Relations Test, and House-Tree-Person was more frequent than the use of objective psychometric tests. Neuropsychological test batteries like the Halstead-Reitan Neuropsychological Test Battery or Luria-Nebraska Neuropsychological Battery were not used. The majority of patients were, however, assessed by intelligence scales like the WAIS-R. The questionable reliability and validity of the projective tests, and the risk of subjective interpretations, raise a problem when used in a forensic setting, since the courts' decisions about a sentence to prison or psychiatric care is based on the forensic psychiatric assessment. The use of objective psychometric neuropsychological tests and personality tests is recommended.

Freiburg Questionnaire of linguistic pragmatics (FQLP): psychometric properties based on a psychiatric sample.

PubMed

Riedel, Andreas; Suh, Heejung; Haser, Verena; Hermann, Ismene; Ebert, Dieter; Riemann, Dieter; Bubl, Emanuel; Tebartz van Elst, Ludger; Hölzel, Lars P

2014-12-24

Asperger's Syndrome (AS) is an autism spectrum disorder that is characterized by significant difficulties in social interaction and nonverbal communication, and restricted and repetitive patterns of behavior and interests. Difficulties with respect to pragmatic speech, reading emotional and social cues, differentiating between fact and fiction, and taking into account the influence of context on a statement are commonly described features. However, hitherto established questionnaires did not focus on these symptoms. In this study we present a short (11 questions) questionnaire which focuses on self-rated pragmatic speech abilities, the Freiburg Questionnaire of linguistic pragmatics (FQLP). Psychometric properties of the questionnaire were explored in a sample of 57 patients with Asperger's Syndrome, 66 patients with other psychiatric disorders, and a convenience sample of 56 people. Reliability analysis showed a high Cronbach's α. Strong correlations could be demonstrated for the FQLP with the Autism Quotient and the Empathy Quotient. Concerning divergent validity a moderate correlation was found between the FQLP and self-rated symptoms of personality disorders. No significant correlation was found between the FQLP and the vocabulary skills. The receiver operating characteristics curve showed an excellent diagnostic accuracy of the FQLP (.97). As the control group consisted of people without mental disorder and patients with different psychiatric disorders, the results indicate that the construct examined by the FQLP is quite specific to the peculiarities of AS. The FQLP is a reliable, brief and valid instrument. First results regarding sensitivity and specificity are highly promising.