A Proposal for a Dimensional Classification System Based on the Shared Features of the "DSM-IV" Anxiety and Mood Disorders: Implications for Assessment and Treatment

ERIC Educational Resources Information Center

Brown, Timothy A.; Barlow, David H.

2009-01-01

A wealth of evidence attests to the extensive current and lifetime diagnostic comorbidity of the "Diagnostic and Statistical Manual of Mental Disorders" (4th ed., "DSM-IV") anxiety and mood disorders. Research has shown that the considerable cross-sectional covariation of "DSM-IV" emotional disorders is accounted for by common higher order…

General medicine and surgery for dental practitioners. Part 5--Psychiatry.

PubMed

Brown, S; Greenwood, M; Meechan, J G

2010-07-10

There are a significant number of patients in society who have some form of psychiatric disorder. It is important that dental practitioners have an awareness of the more common psychiatric disorders and their potential implications as they are likely to encounter them in clinical practice.

Feminist Developmental Theory: Implications for Counseling.

ERIC Educational Resources Information Center

Wastell, Colin A.

1996-01-01

Discusses the importance of counseling guided by a life-span development model. Emphasizes that one popular theory should be modified by taking into account a broader understanding of life-span development in terms of commonalities and differences in male and female development. Examines implications with borderline personality disorder and…

Developmental Pathways to Conduct Disorder: Implications for Future Directions in Research, Assessment, and Treatment

ERIC Educational Resources Information Center

Frick, Paul J.

2012-01-01

Research has indicated that there are several common pathways through which children and adolescents develop conduct disorder, each with different risk factors and each with different underlying developmental mechanisms leading to the child's aggressive and antisocial behavior. The current article briefly summarizes research on these pathways,…

Common polygenic variation contributes to risk of schizophrenia that overlaps with bipolar disorder

PubMed Central

2013-01-01

Schizophrenia (SCZ) is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits with heritability estimated at up to 80%1,2. We adopted two analytic approaches to determine the extent to which common genetic variation underlies risk of SCZ using genome-wide association study (GWAS) data from 3,322 European individuals with SCZ and 3,587 controls. First, we implicate the major histocompatibility complex (MHC). Second, we provide molecular genetic evidence for a substantial polygenic component to risk of SCZ involving thousands of common alleles of very small effect. We show that this component also contributes to risk of bipolar disorder (BPD), but not to multiple non-psychiatric diseases. PMID:19571811

Is there a shared neurobiology between aggression and Internet addiction disorder?

PubMed Central

Hahn, Changtae; Kim, Dai-Jin

2014-01-01

Purpose: Evidences indicate that Internet addiction disorder (IAD) has a higher risk of developing aggression and violent behavior. A few correlation studies between IAD and aggression have implicated a common biological mechanism. However, neurobiological approaches to IAD and aggression have not yet been studied. Methods: A literature search for studies for Internet addiction disorder or aggression was performed in the PubMed database and we selected articles about neurobiology of IAD or aggression. Results: This review includes (a) common neural substrates such as the prefrontal cortex and the limbic system between aggression and IAD; (b) common neuromodulators such as dopamine, norepinephrine, serotonin, opiate and nicotine between aggression and IAD. Conclusions: Through reviewing the relevant literature, we suggested the possibility of common neurobiology between the two psychiatric phenomena and direction of research on aggression in IAD. PMID:25215210

Anxiety Disorders and Sensory Over-Responsivity in Children with Autism Spectrum Disorders: Is There a Causal Relationship?

PubMed Central

Ben-Sasson, Ayelet

2010-01-01

Anxiety disorders and sensory over-responsivity (SOR) are common in children with autism spectrum disorders (ASD), and there is evidence for an association between these two conditions. Currently, it is unclear what causal mechanisms may exist between SOR and anxiety. We propose three possible theories to explain the association between anxiety and SOR: (a) SOR is caused by anxiety; (b) Anxiety is caused by SOR; or (c) SOR and anxiety are causally unrelated but are associated through a common risk factor or diagnostic overlap. In this paper, we examine support for each theory in the existing anxiety, autism, and neuroscience literature, and discuss how each theory informs choice of interventions and implications for future studies. PMID:20383658

The Relationship between Sensory Processing Difficulties and Behaviour in Children Aged 5-9 Who Are at Risk of Developing Conduct Disorder

ERIC Educational Resources Information Center

Fox, Cara; Snow, Pamela C.; Holland, Kerry

2014-01-01

Behavioural problems in childhood are common, with significant and wide-ranging implications for individuals, families and the community. There is some evidence that sensory processing difficulties are associated with behavioural problems in children with disabilities such as autism spectrum disorders (ASDs) and attention-deficit/hyperactivity…

Genetics of attention deficit hyperactivity disorder.

PubMed

Faraone, Stephen V; Larsson, Henrik

2018-06-11

Decades of research show that genes play an vital role in the etiology of attention deficit hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and adoption studies show that ADHD runs in families. ADHD's high heritability of 74% motivated the search for ADHD susceptibility genes. Genetic linkage studies show that the effects of DNA risk variants on ADHD must, individually, be very small. Genome-wide association studies (GWAS) have implicated several genetic loci at the genome-wide level of statistical significance. These studies also show that about a third of ADHD's heritability is due to a polygenic component comprising many common variants each having small effects. From studies of copy number variants we have also learned that the rare insertions or deletions account for part of ADHD's heritability. These findings have implicated new biological pathways that may eventually have implications for treatment development.

A systematic review of the literature on disorders of sleep and wakefulness in Parkinson's disease from 2005 to 2015.

PubMed

Chahine, Lama M; Amara, Amy W; Videnovic, Aleksandar

2017-10-01

Sleep disorders are among the most common non-motor manifestations in Parkinson's disease (PD) and have a significant negative impact on quality of life. While sleep disorders in PD share most characteristics with those that occur in the general population, there are several considerations specific to this patient population regarding diagnosis, management, and implications. The available research on these disorders is expanding rapidly, but many questions remain unanswered. We thus conducted a systematic review of the literature published from 2005 to 2015 on the following disorders of sleep and wakefulness in PD: REM sleep behavior disorder, insomnia, nocturia, restless legs syndrome and periodic limb movements, sleep disordered breathing, excessive daytime sleepiness, and circadian rhythm disorders. We discuss the epidemiology, etiology, clinical implications, associated features, evaluation measures, and management of these disorders. The influence on sleep of medications used in the treatment of motor and non-motor symptoms of PD is detailed. Additionally, we suggest areas in need of further research. Copyright © 2016 Elsevier Ltd. All rights reserved.

The clinical significance of creativity in bipolar disorder

PubMed Central

Murray, Greg; Johnson, Sheri L.

2012-01-01

Clinical implications of the high rates of creativity within bipolar disorder (BD) have not been explored. The aim of this review is to outline these implications by (i) reviewing evidence for the link between creativity and BD, (ii) developing a provisional model of mechanisms underpinning the creativity–BD link, (iii) describing unique challenges faced by creative-BD populations, and (iv) systematically considering evidence-based psychosocial treatments in the light of this review. While more research into the creativity–BD nexus is urgently required, treatment outcomes will benefit from consideration of this commonly occurring phenotype. PMID:20579791

Diagnosis, Treatment, and Educational Implications for Students with Attention-Deficit/Hyperactivity Disorder in the United States, Australia, and the United Kingdom

ERIC Educational Resources Information Center

Schlachter, Sarah

2008-01-01

For many years there has been debate over Attention-Deficit/Hyperactivity Disorder (ADHD) and whether this condition, which commonly afflicts adolescent children, is a medical or social condition and whether it is exclusively an American phenomenon. This article reviews the basis of ADHD's definition, diagnosis, treatment, and educational…

The Secondary Effects of Antiepileptic Drugs (AEDs) in Children and Their Implications on Augmentative and Alternative Communication (AAC) Processes: A Best-Evidence Synthesis

ERIC Educational Resources Information Center

Srinivasan, Saranya

2009-01-01

This study uses a best-evidence synthesis method to investigate the secondary effects of various antiepileptic drugs (AEDs) and their implications on augmentative and alternative communication (AAC) processes. Epilepsy is a common serious neurological disorder, a concomitant condition in individuals with severe developmental and intellectual…

A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABA[subscript A] Receptors

ERIC Educational Resources Information Center

Kang, Jing-Qiong; Barnes, Gregory

2013-01-01

Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and…

Yes: The Symptoms of OCD and Depression Are Discrete and Not Exclusively Negative Affectivity

PubMed Central

Moore, Kathleen A.; Howell, Jacqui

2017-01-01

Although Obsessive-Compulsive Disorder (OCD) and Depression are classified as separate disorders, the high incidence of co-morbidity and the strong correlations between measures of each has led to debate about the nature of their relationship. Some authors have proposed that OCD is in fact a mood disorder while others have suggested that the two disorders are grounded in negative affectivity. A third proposition is that depression is an essential part of OCD but that OCD is a separate disorder from depression. The aim in this study was to investigate these diverse propositions in a non-clinical sample and also to determine whether factors implicated in each, that is anxious and depressive cognitions, hopelessness, and self-criticism, would demonstrate commonality as predictors of the symptoms of OCD and of depression. Two hundred participants (59% female) (M age = 34 years, SD = 16) completed the Padua Inventory, Carroll Rating Scale, Cognitions Checklist, Self-Criticism Scale, Beck Hopelessness Scale, Buss-Durkee Hostility Inventory-Revised and a Negative Affectivity Schedule. Results indicated a strong correlation between OCD and depression, depression, and negative affectivity but a weaker relationship between OCD and negative affectivity. Path analyses revealed that both anxious and depressive cognitions, as well as hostility predicted both disorders but the Beta-weights were stronger on OCD. Self-criticism predicted only depression while hopelessness failed to predict either disorder but was itself predicted by depressive cognitions. Depression was a stronger indicator of negative affect than OCD and while OCD positively predicted depression, depression was a negative indicator of OCD. These results support the hypothesis that OCD and depression are discrete disorders and indicate that while depression is implicated in OCD, the reverse does not hold. While both disorders are related to negative affectivity, this relationship is much stronger for depression thus failing to confirm that both are subsumed by a common factor, in this case, negative affectivity. The proposition that depression is part of OCD but that OCD is not necessarily implicated in depression and is, in fact, a separate disorder, is supported by the current model. Further research is required to support the utility of the model in clinical samples. PMID:28553250

Factors related to parental age of first concern in toddlers with autism spectrum disorder.

PubMed

Matheis, Maya; Matson, Johnny L; Burns, Claire O; Jiang, Xinrui; Peters, W Jason; Moore, Michael; de Back, Kaitlin A; Estabillo, Jasper

2017-05-01

The age of first concern (AOC) of parents of children with autism spectrum disorders (ASD) has substantial implications for early diagnosis and intervention. The current study sought to determine the average AOC, what types of first concerns are most common, and what factors predict earlier AOC in toddlers with ASD. This study analyzed the predictive influence of the type of concern, symptom severity, medical diagnoses, and other independent variables on AOC among toddlers with ASD using multiple regressions. The mean AOC was found to be 13.97 months (SD = 7.86). The most commonly reported first concern was speech/language. First concerns related to communication, speech/language predicted later AOC, while motor concerns predicted earlier AOC. Concerns that are more closely related to social communication deficits characteristic of ASD predicted later AOC. The implications of these findings on screening/assessment and intervention are discussed.

Attention deficit hyperactivity disorder may be a highly inflammation and immune-associated disease (Review).

PubMed

Zhou, Rong-Yi; Wang, Jiao-Jiao; Sun, Ji-Chao; You, Yue; Ying, Jing-Nang; Han, Xin-Min

2017-10-01

Attention deficit hyperactivity disorder (ADHD) is a common behavioral disorder. Previous research has indicated that genetic factors, family education, environment and dietary habits are associated with ADHD. It has been determined that in China many children with ADHD also have allergic rhinitis or asthma. These children are more susceptible to the common cold or upper respiratory infections compared with normal healthy children. Additionally, the common cold or an upper respiratory infection may lead to disease recurrence or worsen the symptoms in these children. Previous studies have determined that ADHD may have a close association with allergic disease. Based on the clinically observed phenomenon and previous studies, it was hypothesized that ADHD is a high inflammation and immune‑associated disease. Therefore, the authors designed clinical and animal experiments to test this hypothesis in the future. Immune system disorders may be a novel part of the etiology of ADHD. The current report may have implications for future clinical practice.

Significant relationship between lifetime alcohol use disorders and suicide attempts in an Australian schizophrenia sample.

PubMed

McLean, Duncan; Gladman, Beverley; Mowry, Bryan

2012-02-01

Suicide and attempted suicide are common in individuals with schizophrenia, and evidence exists for a link between substance use disorders and suicidality in this disorder. However, alcohol has not been consistently implicated. We examined the relationship between substance use disorders and suicide attempts in schizophrenia. We recruited a schizophrenia sample in Australia (n = 821) for genetic analyses. We analysed demographic and clinical variables, including substance use disorders, and their relationship to suicide attempts using generalised equation modelling. A significant association was identified between lifetime alcohol abuse/dependence and suicide attempts (OR = 1.66; 95% CI, 1.23 to 2.24; p = 0.001) after adjustment for potential confounders, but not between cannabis abuse/dependence and suicide attempts, nor between other illicit drug abuse/dependence and suicide attempts. Polysubstance abuse/dependence was also not implicated. These results suggest that the presence of alcohol abuse/dependence may be a risk factor for suicide attempts in individuals with schizophrenia, independent of comorbid substance abuse/dependence.

Lessons from obesity prevention for the prevention of mental disorders: the primordial prevention approach.

PubMed

Hayward, Joshua; Jacka, Felice N; Waters, Elizabeth; Allender, Steven

2014-09-10

Emerging evidence supports a relationship between risk factors for obesity and the genesis of the common mental disorders, depression and anxiety. This suggests common mental disorders should be considered as a form of non-communicable disease, preventable through the modification of lifestyle behaviours, particularly diet and physical activity. Obesity prevention research since the 1970's represents a considerable body of knowledge regarding strategies to modify diet and physical activity and so there may be clear lessons from obesity prevention that apply to the prevention of mental disorders. For obesity, as for common mental disorders, adolescence represents a key period of vulnerability. In this paper we briefly discuss relationships between modifiable lifestyle risk factors and mental health, lifestyle risk factor interventions in obesity prevention research, the current state of mental health prevention, and the implications of current applications of systems thinking in obesity prevention research for lifestyle interventions. We propose a potential focus for future mental health promotion interventions and emphasise the importance of lessons available from other lifestyle modification intervention programmes.

DSM-5 Changes in Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder: Implications for Comorbid Sleep Issues.

PubMed

Ramtekkar, Ujjwal P

2017-07-27

Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are the most common neurodevelopmental disorders. Despite significant comorbidity, the previous diagnostic criteria prohibited the simultaneous diagnosis of both disorders. Sleep problems are highly prevalent in both disorders; however, these have been studied independently for ADHD and ASD. In the context of revised criteria in the Diagnostic Statistical Manual of Mental Disorders 5th edition (DSM-5) that allows combined diagnosis of ADHD and ASD, this short review presents an overview of relationship between sleep problems, ADHD and ASD, as well as conceptualizing the shared pathophysiology. The practical considerations for clinical management of sleep problems in combination with ADHD and ASD are also discussed.

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.

PubMed

Mosca, Stephen J; Langevin, Lisa Marie; Dewey, Deborah; Innes, A Micheil; Lionel, Anath C; Marshall, Christian C; Scherer, Stephen W; Parboosingh, Jillian S; Bernier, Francois P

2016-12-01

Developmental coordination disorder is a common neurodevelopment disorder that frequently co-occurs with other neurodevelopmental disorders including attention-deficit hyperactivity disorder (ADHD). Copy-number variations (CNVs) have been implicated in a number of neurodevelopmental and psychiatric disorders; however, the proportion of heritability in developmental coordination disorder (DCD) attributed to CNVs has not been explored. This study aims to investigate how CNVs may contribute to the genetic architecture of DCD. CNV analysis was performed on 82 extensively phenotyped Canadian children with DCD, with or without co-occurring ADHD and/or reading disorder, and 2988 healthy European controls using identical genome-wide SNP microarrays and CNV calling algorithms. An increased rate of large and rare genic CNVs (p=0.009) was detected, and there was an enrichment of duplications spanning brain-expressed genes (p=0.039) and genes previously implicated in other neurodevelopmental disorders (p=0.043). Genes and loci of particular interest in this group included: GAP43, RBFOX1, PTPRN2, SHANK3, 16p11.2 and distal 22q11.2. Although no recurrent CNVs were identified, 26% of DCD cases, where sample availability permitted segregation analysis, were found to have a de novo rare CNV. Of the inherited CNVs, 64% were from a parent who also had a neurodevelopmental disorder. These findings suggest that there may be shared susceptibility genes for DCD and other neurodevelopmental disorders and highlight the need for thorough phenotyping when investigating the genetics of neurodevelopmental disorders. Furthermore, these data provide compelling evidence supporting a genetic basis for DCD, and further implicate rare CNVs in the aetiology of neurodevelopmental disorders. 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/.

Treating patients with bipolar disorder and substance dependence: lessons learned.

PubMed

Weiss, Roger D

2004-12-01

Although bipolar disorder is the Axis I psychiatric disorder associated with the highest rate of co-occurring substance use disorders, little research has focused on treatments specifically designed for these patients. The author and his colleagues have developed and studied Integrated Group Therapy (IGT) for this population. This paper describes common themes that have emerged in carrying out IGT for patients with bipolar disorder and substance dependence. These include the strong emphasis on depression, as opposed to mania; the predominance of hopelessness; specific patterns of medication noncompliance; and the implications of patients' labeling their substance use as self-medication. Therapeutic aspects involved in addressing these themes are discussed.

Regression in autistic spectrum disorders.

PubMed

Stefanatos, Gerry A

2008-12-01

A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

A psychological model of mental disorder.

PubMed

Kinderman, Peter

2005-01-01

A coherent conceptualization of the role of psychological factors is of great importance in understanding mental disorder. Academic articles and professional reports alluding to psychological models of the etiology of mental disorder are becoming increasingly common, and there is evidence of a marked policy shift toward the provision of psychological therapies and interventions. This article discusses the relationship between biological, social, and psychological factors in the causation and treatment of mental disorder. It argues that simple biological reductionism is not scientifically justified, and also that the specific role of psychological processes within the biopsychosocial model requires further elaboration. The biopsychosocial model is usually interpreted as implying that biological, psychological, and social factors are co-equal partners in the etiology of mental disorder. The psychological model of mental disorder presented here suggests that disruption or dysfunction in psychological processes is a final common pathway in the development of mental disorder. These processes include, but are not limited to, cognitive processes. The model proposes that biological and social factors, together with a person's individual experiences, lead to mental disorder through their conjoint effects on those psychological processes. Implications for research, interventions, and policy are discussed.

DSM-5 and Mental Disorders in Older Individuals: An Overview.

PubMed

Sachdev, Perminder S; Mohan, Adith; Taylor, Lauren; Jeste, Dilip V

2015-01-01

After participating in this activity, learners should be better able to:• Assess the changes in DSM-5 relative to earlier versions.• Evaluate the implications of the DSM-5 for practicing geriatric psychiatrists. About every 20 years, the American Psychiatric Association revises its official classification of mental disorders. The fifth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was published in 2013, prompting considerable commentary, debate, and criticism. This article briefly describes the process leading up to DSM-5 and the main changes from the previous version (DSM-IV) that would be of interest to a geriatric psychiatrist. The changes in the areas of schizophrenia, bipolar disorder, depressive disorders, and anxiety disorders have been many, but the majority of them are minor and unlikely to have major treatment implications. The classification of neurocognitive disorders, however, has seen a major revision and elaboration in comparison to DSM-IV; of special note is the introduction of "mild and major neurocognitive disorders," the latter equated with dementia. A common language has also been introduced for the criteria for the various etiological subtypes of neurocognitive disorders. All physicians treating patients with neurocognitive disorders should familiarize themselves with these criteria. Their use in research has the potential to harmonize the field.

Personality disorders in women with severe premenstrual syndrome.

PubMed

Sassoon, Stephanie A; Colrain, Ian M; Baker, Fiona C

2011-06-01

Premenstrual syndrome (PMS) and its more severe form, premenstrual dysphoric disorder, affect up to 18% of women. Both are commonly associated with other mood-related disorders such as major depression, and cause significant life impairment, but their relationship with personality disorders is less clear. After completing the Structured Clinical Interview for DSM-IV-TR disorders, 33 women with severe PMS and 26 asymptomatic women, counterbalanced for menstrual cycle phase, were administered the Structured Interview for DSM-IV Personality Disorders, a diagnostic interview with low transparency, strong inter-rater reliability, and good diagnostic clarity. Women with severe PMS had a higher prevalence of personality disorders (p = 0.003) than asymptomatic women (27% versus 0%), and were more likely to have odd-eccentric, dramatic-erratic, and anxious-fearful personality disorder traits (p < 0.05). Obsessive-compulsive personality disorder (OCPD) was the most common character pathology in the PMS group (n = 6, 18%). OCPD, although not necessarily associated with greater severity of premenstrual symptoms, was related to poorer life functioning in women with PMS. The comorbidity of a personality disorder and severe PMS places an additive burden on general life functioning and may have implications for psychiatric treatment or medication given to those with severe premenstrual symptoms.

Hypophosphatemic rickets: Revealing Novel Control Points for Phosphate Homeostasis

PubMed Central

White, Kenneth E.; Hum, Julia M.; Econs, Michael J.

2014-01-01

Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia. The results of clinical, genetic, and translational studies have interwoven novel concepts underlying the endocrine control of phosphate metabolism, with far-reaching implications for treatment of both rare, Mendelian diseases as well as common disorders of blood phosphate excess such as chronic kidney disease (CKD). In particular, diseases caused by changes in the expression and proteolytic control of the phosphaturic hormone Fibroblast growth factor-23 (FGF23) have come to the forefront in terms of directing new models explaining mineral metabolism. These hypophosphatemic disorders, as well as others resulting from independent defects in phosphate transport or metabolism, will be reviewed herein, and implications for emerging therapeutic strategies based upon these new findings will be discussed. PMID:24980542

Attention-deficit/hyperactivity disorder and eating disorders across the lifespan: A systematic review of the literature.

PubMed

Levin, Rivka L; Rawana, Jennine S

2016-12-01

Attention-deficit/hyperactivity disorder (ADHD) and eating disorders are common and concerning mental health disorders. There is both empirical and theoretical support for an association between ADHD and eating disorders or disordered eating. This systematic review aims to summarize the extant literature on the comorbidity of ADHD and eating disorders across the lifespan, including the influences of sex, age, eating disorder diagnosis, and potential mediators. A total of 37 peer-reviewed studies on diagnosed ADHD and eating disturbances were identified through key research databases. Twenty-six studies supported a strong empirical association between ADHD and eating disorders or disordered eating. The systematic review findings suggest that children with ADHD are at risk for disordered eating, while adolescents, emerging adults, and adults are at risk for both eating disorders and disordered eating. Methodological considerations, future research, and clinical implications are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

The epidemiology of anxiety disorders: a review

PubMed Central

Martin, Patrick

2003-01-01

Epidemiological studies show that anxiety disorders are highly prevalent and an important cause of functional impairment; they constitute the most frequent menial disorders in the community. Phobias are the most common with the highest rates for simple phobia and agoraphobia. Panic disorder (PD) and obsessive-compulsive disorder (OCD) are less frequent (2% lifetime prevalence), and there are discordant results for social phobia (SP) (2%-16%) and generalized anxiety disorder (GAD) (3%-30%). These studies underline the importance of an accurate definition of disorders using unambiguous diagnostic and assessment criteria. The boundaries between anxiety disorders are often ill defined and cases may vary widely according to the definition applied. Simple phobia, agoraphobia, and GAD are more common in vmrnen, while there is no gender différence for SP, PD, and OCD, Anxiety disorders are more common in separated, divorced, and widowed subjects; their prevalence is highest in subjects aged 25 to 44 years and lowest in subjects aged >65 years. The age of onset of the different types of anxiety disorders varies widely: phobic disorders begin early in life, whereas PD occurs in young adulthood. Clinical - rather than epidemiological - studies have examined risk factors such as life events, childhood experiences, and familial factors. Anxiety disorders have a chronic and persistent course, and are frequently comorbid with other anxiety disorders, depressive disorders, and substance abuse. Anxiety disorders most frequently precede depressive disorders or substance abuse, Comorbid diagnoses may influence risk factors like functional impairment and quality of life. It remains unclear whether certain anxiety disorders (eg, PD) are risk factors for suicide. The comorbidity of anxiety disorders has important implications for assessment and treatment and the risk factors should be explored. The etiology, natural history, and outcome of these disorders need to be further addressed in epidemiological studies. PMID:22034470

Common mental disorders associated with tuberculosis: a matched case-control study.

PubMed

de Araújo, Gleide Santos; Pereira, Susan Martins; dos Santos, Darci Neves; Marinho, Jamocyr Moura; Rodrigues, Laura Cunha; Barreto, Mauricio Lima

2014-01-01

Despite the availability of treatment and a vaccine, tuberculosis continues to be a public health problem worldwide. Mental disorders might contribute to the burden of the disease. The objective of this study was to investigate the association between common mental disorders and tuberculosis. A matched case-control study was conducted. The study population included symptomatic respiratory patients who attended three referral hospitals and six community clinics in the city of Salvador, Brazil. A doctor's diagnosis defined potential cases and controls. Cases were newly diagnosed tuberculosis cases, and controls were symptomatic respiratory patients for whom tuberculosis was excluded as a diagnosis by the attending physician. Cases and controls were ascertained in the same clinic. Data collection occurred between August 2008 and April 2010. The study instruments included a structured interview, a self-reporting questionnaire for the identification of common mental disorders, and a questionnaire for alcoholism. An univariate analysis included descriptive procedures (with chi-square statistics), and a multivariate analysis used conditional logistic regression. The mean age of the cases was 38 years, and 61% of the cases were males. After adjusting for potential confounders, the odds of tuberculosis were significantly higher in patients diagnosed with a common mental disorder (OR: 1.34; 95% CI 1.05-1.70). There appears to be a positive and independent association between common mental disorders and tuberculosis; further epidemiological studies are required to increase our understanding of the possible biological and social mechanisms responsible for this association. Independent of the direction of the association, this finding has implications for the provision of care for mental disorders and for tuberculosis.

Quantifying heterogeneity attributable to polythetic diagnostic criteria: theoretical framework and empirical application.

PubMed

Olbert, Charles M; Gala, Gary J; Tupler, Larry A

2014-05-01

Heterogeneity within psychiatric disorders is both theoretically and practically problematic: For many disorders, it is possible for 2 individuals to share very few or even no symptoms in common yet share the same diagnosis. Polythetic diagnostic criteria have long been recognized to contribute to this heterogeneity, yet no unified theoretical understanding of the coherence of symptom criteria sets currently exists. A general framework for analyzing the logical and mathematical structure, coherence, and diversity of Diagnostic and Statistical Manual diagnostic categories (DSM-5 and DSM-IV-TR) is proposed, drawing from combinatorial mathematics, set theory, and information theory. Theoretical application of this framework to 18 diagnostic categories indicates that in most categories, 2 individuals with the same diagnosis may share no symptoms in common, and that any 2 theoretically possible symptom combinations will share on average less than half their symptoms. Application of this framework to 2 large empirical datasets indicates that patients who meet symptom criteria for major depressive disorder and posttraumatic stress disorder tend to share approximately three-fifths of symptoms in common. For both disorders in each of the datasets, pairs of individuals who shared no common symptoms were observed. Any 2 individuals with either diagnosis were unlikely to exhibit identical symptomatology. The theoretical and empirical results stemming from this approach have substantive implications for etiological research into, and measurement of, psychiatric disorders.

SLEEP AND CIRCADIAN RHYTHM DISORDERS IN PARKINSON'S DISEASE.

PubMed

Gros, Priti; Videnovic, Aleksandar

2017-09-01

Sleep disorders are among the most challenging non-motor features of Parkinson's disease (PD) and significantly affect quality of life. Research in this field has gained recent interest among clinicians and scientists and is rapidly evolving. This review is dedicated to sleep and circadian dysfunction associated with PD. Most primary sleep disorders may co-exist with PD; majority of these disorders have unique features when expressed in the PD population. We discuss the specific considerations related to the common sleep problems in Parkinson's disease including insomnia, rapid eye movement sleep behavior disorder, restless legs syndrome, sleep disordered breathing, excessive daytime sleepiness and circadian rhythm disorders. Within each of these sleep disorders, we present updated definitions, epidemiology, etiology, diagnosis, clinical implications and management. Furthermore, areas of potential interest for further research are outlined.

Etiology of depression comorbidity in combat-related PTSD: a review of the literature.

PubMed

Stander, Valerie A; Thomsen, Cynthia J; Highfill-McRoy, Robyn M

2014-03-01

Posttraumatic stress disorder is often diagnosed with other mental health problems, particularly depression. Although PTSD comorbidity has been associated with more severe and chronic symptomology, relationships among commonly co-occurring disorders are not well understood. The purpose of this study was to review the literature regarding the development of depression comorbid with combat-related PTSD among military personnel. We summarize results of commonly tested hypotheses about the etiology of PTSD and depression comorbidity, including (1) causal hypotheses, (2) common factor hypotheses, and (3) potential confounds. Evidence suggests that PTSD may be a causal risk factor for subsequent depression; however, associations are likely complex, involving bidirectional causality, common risk factors, and common vulnerabilities. The unique nature of PTSD-depression comorbidity in the context of military deployment and combat exposure is emphasized. Implications of our results for clinical practice and future research are discussed. Published by Elsevier Ltd.

Atypical Microglial Response to Biodiesel Exhaust in Healthy and Hypertensive Rats

EPA Science Inventory

Accumulating evidence suggests a deleterious role for urban air pollution in central nervous system (CNS) diseases and neurodevelopmental disorders. Microglia, the resident innate immune cells and sentinels in the brain, are a common source of neuroinflammation and are implicate...

A psychometric investigation of gender differences and common processes across Borderline and Antisocial Personality Disorders

PubMed Central

Chun, Seokjoon; Harris, Alexa; Carrion, Margely; Rojas, Elizabeth; Stark, Stephen; Lejuez, Carl; Lechner, William V.; Bornovalova, Marina A.

2016-01-01

The comorbidity between Borderline Personality Disorder (BPD) and Antisocial Personality Disorder (ASPD) is well-established, and the two disorders share many similarities. However, there are also differences across disorders: most notably, BPD is diagnosed more frequently in females and ASPD in males. We investigated if a) comorbidity between BPD and ASPD is attributable to two discrete disorders or the expression of common underlying processes, and b) if the model of comorbidity is true across sex. Using a clinical sample of 1400 drug users in residential substance abuse treatment, we tested three competing models to explore whether the comorbidity of ASPD and BPD should be represented by a single common factor, two correlated factors, or a bifactor structure involving a general and disorder-specific factors. Next, we tested whether our resulting model was meaningful by examining its relationship with criterion variables previously reported to be associated with BPD and ASPD. The bifactor model provided the best fit and was invariant across sex. Overall, the general factor of the bifactor model significantly accounted for a large percentage of the variance in criterion variables, whereas the BPD and AAB specific factors added little to the models. The association of the general and specific factor with all criterion variables was equal for males and females. Our results suggest common underlying vulnerability accounts for both the comorbidity between BPD and AAB (across sex), and this common vulnerability drives the association with other psychopathology and maladaptive behavior. This in turn has implications for diagnostic classification systems and treatment. General scientific summary This study found that, for both males and females, borderline and antisocial personality disorders show a large degree of overlap, and little uniqueness. The commonality between BPD and ASPD mainly accounted for associations with criterion variables. This suggests that BPD and ASPD show a large common core that accounts for their comorbidity. PMID:27808543

The Views and Experiences of Parents of Children with Autistic Spectrum Disorder about Educational Provision: Comparisons with Parents of Children with Other Disabilities from an Online Survey

ERIC Educational Resources Information Center

Parsons, Sarah; Lewis, Ann; Ellins, Jean

2009-01-01

A recent review of educational provision for children with special educational needs by the House of Commons Education and Skills Committee in 2006 singled out children with autistic spectrum disorder (ASD) as being in need of special attention and highlighted the frustration felt by parents. One implication is that parents of children with ASD…

Actual neurosis as the underlying psychic structure of panic disorder, somatization, and somatoform disorder: an integration of Freudian and attachment perspectives.

PubMed

Verhaeghe, Paul; Vanheule, Stijn; De Rick, Ann

2007-10-01

Starting from a contemporary critique of the DSM-IV, this paper argues that the diagnostic categories of panic disorder somatization, and undifferentiated somatoform disorders can be understood as belonging to a common type of psychopathology--i.e., the Freudian actual neuroses. In addition to their strong clinical similarity, these disorders share an etiological similarity; and the authors propose a combination of Freud's focus on this type of patient's inability to represent an endogenous drive arousal with the post-Freudian focus on separation anxiety. An etiological hypothesis is put forward based on contemporary psychoanalytic attachment theory, highlighting mentalization. Concrete implications for a psychoanalytically based treatment are proposed.

Altered striatal intrinsic functional connectivity in pediatric anxiety

PubMed Central

Dorfman, Julia; Benson, Brenda; Farber, Madeline; Pine, Daniel; Ernst, Monique

2016-01-01

Anxiety disorders are among the most common psychiatric disorders of adolescence. Behavioral and task-based imaging studies implicate altered reward system function, including striatal dysfunction, in adolescent anxiety. However, no study has yet examined alterations of the striatal intrinsic functional connectivity in adolescent anxiety disorders. The current study examines striatal intrinsic functional connectivity (iFC), using six bilateral striatal seeds, among 35 adolescents with anxiety disorders and 36 healthy comparisons. Anxiety is associated with abnormally low iFC within the striatum (e.g., between nucleus accumbens and caudate nucleus), and between the striatum and prefrontal regions, including subgenual anterior cingulate cortex, posterior insula and supplementary motor area. The current findings extend prior behavioral and task-based imaging research, and provide novel data implicating decreased striatal iFC in adolescent anxiety. Alterations of striatal neurocircuitry identified in this study may contribute to the perturbations in the processing of motivational, emotional, interoceptive, and motor information seen in pediatric anxiety disorders. This pattern of the striatal iFC perturbations can guide future research on specific mechanisms underlying anxiety. PMID:27004799

What Contributes to Excessive Diet Soda Intake in Eating Disorders: Appetitive Drive, Weight Concerns, or Both?

PubMed Central

Brown, Tiffany A.; Keel, Pamela K.

2013-01-01

Excessive diet soda intake is common in eating disorders. The present study examined factors contributing to excessive intake in a sample of individuals with lifetime eating disorders based on proposed DSM-5 criteria (n=240) and non-eating disorder controls (n=157). Individuals with eating disorders, particularly bulimia nervosa, consumed more diet soda than controls. Eating disorder symptoms that reflect increased appetitive drive or increased weight concerns were associated with increased diet soda intake. Increased weight concerns were associated with increased diet soda intake when levels of appetitive drive were high, but not when they were low. Results highlight the importance of monitoring diet soda intake in individuals with eating disorders and may have implications for the maintenance of dysregulated taste reward processing in BN. PMID:23600556

The genetic basis of panic and phobic anxiety disorders.

PubMed

Smoller, Jordan W; Gardner-Schuster, Erica; Covino, Jennifer

2008-05-15

Panic disorder and phobic anxiety disorders are common disorders that are often chronic and disabling. Genetic epidemiologic studies have documented that these disorders are familial and moderately heritable. Linkage studies have implicated several chromosomal regions that may harbor susceptibility genes; however, candidate gene association studies have not established a role for any specific loci to date. Increasing evidence from family and genetic studies suggests that genes underlying these disorders overlap and transcend diagnostic boundaries. Heritable forms of anxious temperament, anxiety-related personality traits and neuroimaging assays of fear circuitry may represent intermediate phenotypes that predispose to panic and phobic disorders. The identification of specific susceptibility variants will likely require much larger sample sizes and the integration of insights from genetic analyses of animal models and intermediate phenotypes. Copyright 2008 Wiley-Liss, Inc.

Ketamine facilitates extinction of avoidance behavior and enhances synaptic plasticity in a rat model of anxiety vulnerability: Implications for the pathophysiology and treatment of anxiety disorders.

PubMed

Fortress, Ashley M; Smith, Ian M; Pang, Kevin C H

2018-05-08

Anxiety disorders and posttraumatic stress disorder (PTSD) share a common feature of pathological avoidance behavior. The Wistar Kyoto (WKY) rat has been used as a model of anxiety vulnerability, expressing a behaviorally inhibited temperament, acquiring avoidance behavior more rapidly and displaying extinction-resistant avoidance compared to Sprague Dawley (SD) rats. Subanesthetic levels of ketamine have gained attention as a rapid antidepressant in treatment-resistant depression. While traditional antidepressants are commonly used to treat anxiety disorders and PTSD, the therapeutic utility of ketamine for these disorders is much less understood. The hippocampus is critical for the actions of antidepressants, is a structure of implicated in anxiety disorders and PTSD, and is necessary for extinction of avoidance in SD rats. WKY rats have impaired hippocampal long-term potentiation (LTP), suggesting that persistent avoidance in WKY rats may be due to deficient hippocampal synaptic plasticity. In the present study, we hypothesized that ketamine would facilitate extinction of avoidance learning in WKY rats, and do so by enhancing hippocampal synaptic plasticity. As predicted, ketamine facilitated extinction of avoidance behavior in a subset of WKY rats (responders), with effects lasting at least three weeks. Additionally, LTP in these rats was enhanced by ketamine. Ketamine was not effective in facilitating avoidance extinction or in modifying LTP in WKY non-responders. The results suggest that subanesthetic levels of ketamine may be useful for treating anxiety disorders by reducing avoidance behaviors when combined with extinction conditions. Moreover, ketamine may have its long-lasting behavioral effects through enhancing hippocampal synaptic plasticity. Copyright © 2018. Published by Elsevier Ltd.

Autism, the superior temporal sulcus and social perception.

PubMed

Zilbovicius, Monica; Meresse, Isabelle; Chabane, Nadia; Brunelle, Francis; Samson, Yves; Boddaert, Nathalie

2006-07-01

The most common clinical sign of autism spectrum disorders (ASD) is social interaction impairment, which is associated with communication deficits and stereotyped behaviors. Based on recent brain-imaging results, our hypothesis is that abnormalities in the superior temporal sulcus (STS) are highly implicated in ASD. STS abnormalities are characterized by decreased gray matter concentration, rest hypoperfusion and abnormal activation during social tasks. STS anatomical and functional anomalies occurring during early brain development could constitute the first step in the cascade of neural dysfunction underlying ASD. We will focus this review on the STS, which has been highly implicated in social cognition. We will review recent data on the contribution of the STS to normal social cognition and review brain-imaging data implicating this area in ASD. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).

Sleep-Disordered Breathing in Hypertrophic Cardiomyopathy

PubMed Central

Somers, Virend K.

2014-01-01

Sleep-disordered breathing (SDB) may be a treatable risk factor in patients with hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy. Evidence suggests a high prevalence of SDB in HCM. We summarize the pathophysiology of SDB as it relates to hypertension, coronary artery disease, atrial fibrillation, and sudden cardiac death in patients with HCM. The implications regarding the care of patients with HCM and SDB are discussed as well as the knowledge deficits needing further exploration. PMID:25010966

Drug-induced gynecomastia.

PubMed

Thompson, D F; Carter, J R

1993-01-01

Gynecomastia is a relatively common physical finding in men. A wide variety of drugs have been implicated in its cause. Sufficient evidence in the literature suggests that calcium-channel blockers, cancer chemotherapeutic agents, and histamine2-receptor blockers may play a role in the disorder. Evidence for digitalis glycosides and neuroleptic agents is insufficient. Ketoconazole and spironolactone can also produce gynecomastia, and data for marijuana are contradictory. Large numbers of drugs have only case reports of temporal association with the disorder.

Differentiating among singular and comorbid obsessive-compulsive disorder and social phobia symptomology.

PubMed

Rudy, Brittany M; May, Anna C; Whiting, Sara E; Davis, Thompson E; Jenkins, Whitney S; Reuther, Erin T

2014-01-01

Social phobia is a frequent co-occurring diagnosis with obsessive-compulsive disorder (OCD); however, co-occurring OCD in those with social phobia is less common. Genetic, environmental, and cognitive traits are common risk factors for anxiety disorders broadly. It is plausible that shared variables related to OCD and/or social phobia could provide insight into the co-occurrence of these two disorders. The current study explored differences in fear of negative evaluation (FNE) and perfectionism among four groups: those with (1) elevated social phobia symptoms, (2) elevated OCD symptoms, (3) elevated symptoms of OCD and social phobia, and those who were (4) asymptomatic as a control group. A non-clinical sample of 196 participants completed several online questionnaires about social phobia and OCD symptomology. Results identified three cognitive variables (i.e., FNE, total perfectionism, and concern over mistakes) as differential variables in comorbid symptom presentation of OCD and social phobia. A fourth variable (i.e., doubts about actions) was identified as a potential dual risk factor, and four subsequent variables (i.e., parental criticism, personal standards, parental expectations, and organization) were not implicated in differential symptom presentation. Given the different rates of OCD and social phobia co-occurrence, identification of differentiating variables could aid in better understanding of potential risk factors, which may enhance preventative and therapeutic techniques. Study implications, limitations, and future recommendations are discussed.

The Burden of Loss: Unexpected death of a loved one and psychiatric disorders across the life course in a national study

PubMed Central

Keyes, Katherine M.; Pratt, Charissa; Galea, Sandro; McLaughlin, Katie A.; Koenen, Karestan C.; Shear, M. Katherine

2014-01-01

Background Unexpected death of a loved one is common and associated with subsequent elevations in symptoms of multiple forms of psychopathology. Determining whether this experience predicts novel onset of psychiatric disorders and whether these associations vary across the life course has important clinical implications. Aims To examine associations of a loved one’s unexpected death with first onset of common anxiety, mood, and substance disorders in a population-based sample. Methods Relation between unexpected death and first onset of lifetime DSM-IV disorders estimated using a structured interview of adults in the US general population (analytic sample size=27,534). Models controlled for prior occurrence of any disorder, other traumatic event experiences, and demographics. Results Unexpected death was the most common traumatic experience and most likely to be rated as the respondent’s worst, regardless of other traumatic experiences. Increased incidence after unexpected death was observed at every point across the life course for major depressive episodes, panic disorder, and post-traumatic stress disorder. Increased incidence was clustered in later adult age groups for manic episodes, phobias, alcohol disorders, and generalized anxiety disorder. Conclusions The bereavement period is associated with elevated risk for the onset of multiple psychiatric disorders, consistently across the life course and coincident with the experience of the loved one’s death. Novel associations between unexpected death and onset of several disorders, including mania, confirm multiple case reports and small studies, and suggest an important emerging area for clinical research and practice. PMID:24832609

Sexual abuse and psychiatric disorder in England: results from the 2007 Adult Psychiatric Morbidity Survey.

PubMed

Jonas, S; Bebbington, P; McManus, S; Meltzer, H; Jenkins, R; Kuipers, E; Cooper, C; King, M; Brugha, T

2011-04-01

Evidence is accumulating that child sexual abuse (CSA) is associated with many psychiatric disorders in adulthood. This paper uses the detailed information available from the 2007 Adult Psychiatric Morbidity Survey of England (APMS 2007) to quantify links between CSA and a range of psychiatric conditions. The prevalence of psychiatric disorder was established in a random sample of the English household population (n=7403), which also provided sociodemographic and experiential information. We analyzed six types of common mental disorder, alcohol abuse and drug abuse, and people who screened positively for post-traumatic stress disorder (PTSD) and eating disorders. All were strongly and highly significantly associated with CSA, particularly if non-consensual sexual intercourse was involved, for which odds ratios (ORs) ranged from 3.7 to 12.1. These disorders were also related to adult sexual abuse (ASA), although the likelihood of reverse causality is then increased. Revictimization in adulthood was common, and increased the association of CSA with disorder. For several disorders, the relative odds were higher in females but formal tests for moderation by gender were significant only for common mental disorders and only in relation to non-consensual sexual intercourse. The population attributable fraction (PAF) was higher in females in all cases. The detailed and high-quality data in APMS 2007 provided important confirmation both of the strength of association of CSA with psychiatric disorder and of its relative non-specificity. Our results have major implications at the public health level and the individual level, in particular the need for better recognition and treatment of the sequelae of CSA.

Gastrointestinal disorders associated with migraine: A comprehensive review

PubMed Central

Cámara-Lemarroy, Carlos R; Rodriguez-Gutierrez, Rene; Monreal-Robles, Roberto; Marfil-Rivera, Alejandro

2016-01-01

Migraine is a recurrent and commonly disabling primary headache disorder that affects over 17% of women and 5%-8% of men. Migraine susceptibility is multifactorial with genetic, hormonal and environmental factors all playing an important role. The physiopathology of migraine is complex and still not fully understood. Many different neuropeptides, neurotransmitters and brain pathways have been implicated. In connection with the myriad mechanisms and pathways implicated in migraine, a variety of multisystemic comorbidities (e.g., cardiovascular, psychiatric and other neurological conditions) have been found to be closely associated with migraine. Recent reports demonstrate an increased frequency of gastrointestinal (GI) disorders in patients with migraine compared with the general population. Helicobacter pylori infection, irritable bowel syndrome, gastroparesis, hepatobiliary disorders, celiac disease and alterations in the microbiota have been linked to the occurrence of migraine. Several mechanisms involving the gut-brain axis, such as a chronic inflammatory response with inflammatory and vasoactive mediators passing to the circulatory system, intestinal microbiota modulation of the enteric immunological milieu and dysfunction of the autonomic and enteric nervous system, have been postulated to explain these associations. However, the precise mechanisms and pathways related to the gut-brain axis in migraine need to be fully elucidated. In this review, we survey the available literature linking migraine with GI disorders. We discuss the possible physiopathological mechanisms, and clinical implications as well as several future areas of interest for research. PMID:27688656

Gastrointestinal disorders associated with migraine: A comprehensive review.

PubMed

Cámara-Lemarroy, Carlos R; Rodriguez-Gutierrez, Rene; Monreal-Robles, Roberto; Marfil-Rivera, Alejandro

2016-09-28

Migraine is a recurrent and commonly disabling primary headache disorder that affects over 17% of women and 5%-8% of men. Migraine susceptibility is multifactorial with genetic, hormonal and environmental factors all playing an important role. The physiopathology of migraine is complex and still not fully understood. Many different neuropeptides, neurotransmitters and brain pathways have been implicated. In connection with the myriad mechanisms and pathways implicated in migraine, a variety of multisystemic comorbidities (e.g., cardiovascular, psychiatric and other neurological conditions) have been found to be closely associated with migraine. Recent reports demonstrate an increased frequency of gastrointestinal (GI) disorders in patients with migraine compared with the general population. Helicobacter pylori infection, irritable bowel syndrome, gastroparesis, hepatobiliary disorders, celiac disease and alterations in the microbiota have been linked to the occurrence of migraine. Several mechanisms involving the gut-brain axis, such as a chronic inflammatory response with inflammatory and vasoactive mediators passing to the circulatory system, intestinal microbiota modulation of the enteric immunological milieu and dysfunction of the autonomic and enteric nervous system, have been postulated to explain these associations. However, the precise mechanisms and pathways related to the gut-brain axis in migraine need to be fully elucidated. In this review, we survey the available literature linking migraine with GI disorders. We discuss the possible physiopathological mechanisms, and clinical implications as well as several future areas of interest for research.

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.

Comorbid sleep disorders and suicide risk among children and adolescents with bipolar disorder.

PubMed

Stanley, Ian H; Hom, Melanie A; Luby, Joan L; Joshi, Paramjit T; Wagner, Karen D; Emslie, Graham J; Walkup, John T; Axelson, David A; Joiner, Thomas E

2017-12-01

Children and adolescents with bipolar disorder are at increased risk for suicide. Sleep disturbances are common among youth with bipolar disorder and are also independently implicated in suicide risk; thus, comorbid sleep disorders may amplify suicide risk in this clinical population. This study examined the effects of comorbid sleep disorders on suicide risk among youth with bipolar disorder. We conducted secondary analyses of baseline data from the Treatment of Early Age Mania (TEAM) study, a randomized controlled trial of individuals aged 6-15 years (mean ± SD = 10.2 ± 2.7 years) with DSM-IV bipolar I disorder (N = 379). Sleep disorders (i.e., nightmare, sleep terror, and sleepwalking disorders) and suicide risk were assessed via the WASH-U-KSADS and the CDRS-R, respectively. We constructed uncontrolled logistic regression models as well as models controlling for trauma history, a generalized anxiety disorder (GAD) diagnosis, and depression symptoms. Participants with a current comorbid nightmare disorder versus those without were nearly twice as likely to screen positive for suicide risk in an uncontrolled model and models controlling for trauma history, a GAD diagnosis, and depression symptoms. Neither a current comorbid sleep terror disorder nor a sleepwalking disorder was significantly associated with suicide risk. This pattern of findings remained consistent for both current and lifetime sleep disorder diagnoses. Youth with bipolar I disorder and a comorbid nightmare disorder appear to be at heightened suicide risk. Implications for assessment and treatment are discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Avoidant personality disorder and taijin kyoufu: sociocultural implications of the WHO/ADAMHA International Study of Personality Disorders in Japan.

PubMed

Ono, Y; Yoshimura, K; Sueoka, R; Yamauchi, K; Mizushima, H; Momose, T; Nakamura, K; Okonogi, K; Asai, M

1996-03-01

This paper discusses the characteristics of avoidant personality disorder in a cultural context based on the Japanese concept of taijin kyoufu as well as that of DSM-III-R and DSM-IV social phobia. Sixty-six patients were given the International Personality Disorder Examination and questionnaires including the Beck Anxiety Inventory. Among the 23 DSM-III-R personality disorder patients, 8 patients were diagnosed as having avoidant personality disorder. Six of them were suffering from taijin kyoufu symptoms. Among 27 ICD personality disorder patients, 22 patients were diagnosed as having ICD anxious personality disorder. All DSM avoidant patients were included in the ICD anxious group. These findings suggest that patients with avoidant personality disorder have had a long history of difficulties and share common personality problems with a milder form of taijin kyoufu, which is conceptually different from social phobia.

[Transference in the treatment of dissociative identity disorder: A review of literature and a case example].

PubMed

Lambert, Ann Marie; Gagnon, Lise; Fontaine, Francine S

2014-01-01

A literature review about transference in the treatment of dissociative identity disorder (DID) is presented. Common transference reactions resulting from serious traumas are explored, considering that those kind of trauma are higly present in the pathways of DID patients. Post traumatic transference aspects specific to DID are also presented. In addition, common transference patterns and dissociative aspects of transference in the treatment of DID are explained. Transference is also discussed in relationship to the possible impact of disorganized attachment, which is a main component in the development of DID. The clinical implications of this proposition will be discussed and supported by a case example.

Stress--the battle for hearts and minds: links between depression, stress and ischemic heart disease.

PubMed

Korszun, Ania; Frenneaux, Michael P

2006-09-01

Depression and ischemic heart disease (IHD) are strongly related common disorders. Depression itself is an independent cardiac risk factor and is associated with a two- to threefold increase in IHD mortality. Attention has now shifted to identifying the common underlying mechanisms that could make individuals susceptible to both disorders. Abnormalities that have been implicated in this relationship include abnormal platelet activation, decreased baroreceptor sensitivity and endothelial dysfunction. Depression and IHD both have a high association with environmental stress, and depression is characterized by abnormalities of the stress-hormone axis. This review provides a brief overview of some recent developments in our understanding of the pathophysiological links between stress, depression and IHD.

The Evolving Construct of Posttraumatic Stress Disorder (PTSD): DSM-5 Criteria Changes and Legal Implications

PubMed Central

Zoellner, Lori A.; Bedard-Gilligan, Michele A.; Jun, Janie J.; Marks, Libby H.; Garcia, Natalia M.

2014-01-01

In the DSM-5, the diagnosis of posttraumatic stress disorder (PTSD) has undergone multiple, albeit minor, changes. These changes include shifting PTSD placement from within the anxiety disorders into a new category of traumatic and stressor-related disorders, alterations in the definition of a traumatic event, shifting of the symptom cluster structure from three to four clusters, the addition of new symptoms including persistent negative beliefs and expectations about oneself or the world, persistent distorted blame of self or others, persistent negative trauma-related emotions, and risky or reckless behaviors, and the addition of a dissociative specifier. The evidence or lack thereof behind each of these changes is briefly reviewed. These changes, although not likely to change overall prevalence, have the potential to increase the heterogeneity of individuals receiving a PTSD diagnosis both by altering what qualifies as a traumatic event and by adding symptoms commonly occurring in other disorders such as depression, borderline personality disorder, and dissociative disorders. Legal implications of these changes include continued confusion regarding what constitutes a traumatic stressor, difficulties with differential diagnosis, increased ease in malingering, and improper linking of symptoms to causes of behavior. These PTSD changes are discussed within the broader context of DSM reliability and validity concerns. PMID:24470838

Children with Down Syndrome: Implications for Assessment and Intervention in the School

ERIC Educational Resources Information Center

Davis, Andrew S.

2008-01-01

Down syndrome is the most common genetic cause of mental retardation and one of the most frequently occurring neurodevelopmental genetic disorders in children. Children with Down syndrome typically experience a constellation of symptomology that includes developmental motor and language delay, specific deficits in verbal memory, and broad…

Mood instability: significance, definition and measurement.

PubMed

Broome, M R; Saunders, K E A; Harrison, P J; Marwaha, S

2015-10-01

Mood instability is common, and an important feature of several psychiatric disorders. We discuss the definition and measurement of mood instability, and review its prevalence, characteristics, neurobiological correlates and clinical implications. We suggest that mood instability has underappreciated transdiagnostic potential as an investigational and therapeutic target. © The Royal College of Psychiatrists 2015.

Genetic testing in hyperlipidemia.

PubMed

Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

2015-05-01

Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia. Copyright © 2015 Elsevier Inc. All rights reserved.

Genetic Testing in Hyperlipidemia.

PubMed

Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

2016-03-01

Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia. Copyright © 2016 Elsevier Inc. All rights reserved.

[Hyperammonemia type II as an example of urea cycle disorder].

PubMed

Hawrot-Kawecka, Anna M; Kawecki, Grzegorz P; Duława, Jan

2006-01-01

Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder. Its clinical manifestations as lethargy, vomites, coma and cerebral edema are the effect of the higher concentration of the ammonia in plasma. Hyperammonemia, caused by mutation in ornithine transcarbamylase gene, is often considered as a reason of coma by pediatricians but skipped by internist, although it is the third reason of hepatic coma in adults. This article is the recapitulation of published studies and their implication on everyday clinical practice.

Chinese perspectives on primary care for common mental disorders: Barriers and policy implications.

PubMed

Sun, Kai Sing; Lam, Tai Pong; Wu, Dan

2018-05-01

The World Health Organization (WHO) has called for integration of mental health into primary care for a decade. In Western countries, around 15% to 25% of patients with common mental disorders including mood and anxiety disorders seek help from primary care physicians (PCPs). The rate is only about 5% in China. This article reviews the Chinese findings on the barriers to primary care for common mental disorders and how they compared with Western findings. A narrative literature review was conducted, focusing on literature published from mid-1990s in English or Chinese. Patient, PCP and health system factors were reviewed. Although Chinese and Western findings show similar themes of barriers, the Chinese have stronger barriers in most aspects, including under-recognition of the need for treatment, stigma on mental illness, somatization, worries about taking psychiatric drugs, uncertainties in the role, competency and legitimacy of PCPs in mental health care and short consultation time. Current policies in China emphasize enhancement of mental health facilities and workforce in the community. Our review suggests that patients' intention to seek help and PCPs' competency in mental health care are other fundamental factors to be addressed.

Response Inhibition and Internet Gaming Disorder: A Meta-analysis.

PubMed

Argyriou, Evangelia; Davison, Christopher B; Lee, Tayla T C

2017-08-01

Previous research has demonstrated that Internet Gaming Disorder (IGD) has multiple negative effects in psychological functioning and health. This makes the identification of its underpinnings, such as response inhibition, essential for the development of relevant interventions that target these core features of the disorder resulting in more effective treatment. Several empirical studies have evaluated the relationship between response inhibition deficits and IGD using neurocognitive tasks, but provided mixed results. In this study, we conducted a meta-analysis of studies using three neurocognitive tasks, the Go/No Go, the Stroop, and the Stop-Signal tasks, to integrate existing research and estimate the magnitude of this relationship. We found a medium overall effect size (d=0.56, 95% CI [0.32, 0.80]) indicating that compared with healthy individuals, individuals with IGD are more likely to exhibit impaired response inhibition. This finding is in alignment with literature on inhibition and addictive and impulsive behaviors, as well as with neuroimaging research. Theoretical implications regarding the conceptualization of IGD as a clinical disorder, shared commonalities with externalizing psychopathology, and clinical implications for treatment are discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Visual mental imagery in psychopathology--implications for the maintenance and treatment of depression.

PubMed

Weßlau, Charlotte; Steil, Regina

2014-06-01

Negative mental images are a common feature in a range of mental disorders as well as in healthy subjects. Intrusive negative mental images have only recently become a focus of attention in clinical research on depression. Research so far indicates that they can be an important factor regarding the onset and chronicity of affective disorders. This article is the first to provide an extensive overview of the current state of research in the field of visual mental images in depression. It aims to investigate disorder-specific characteristics, as well as the role of imagery as a maintaining factor. A detailed definition and description of empirical results about mental images in depressive disorders is followed by a presentation and analysis of treatment studies using imagery techniques in depressed samples. Additionally, methodological issues like small sample sizes and the lack of control groups are pointed out and implications for future research are discussed. Case vignettes are included in the appendix to exemplify the importance of negative mental images in patients suffering from depression. Copyright © 2014 Elsevier Ltd. All rights reserved.

Maternal stress and perinatal features in autism and attention deficit/hyperactivity disorder.

PubMed

Say, Gökçe Nur; Karabekiroğlu, Koray; Babadağı, Zehra; Yüce, Murat

2016-04-01

We investigated the shared and non-shared perinatal risk factors for autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD) in a clinical sample. Additionally, we compared these groups regarding pre/postpartum maternal stress and the duration of breastfeeding. Children aged 3-18 years old with ASD (n = 100) were compared with age- and gender-matched children with ADHD (n = 100) and with age- and gender-matched healthy controls (n = 80). Prematurity of the neonate and maternal stress/depressive mood in pregnancy were common risk factors shared by ASD and ADHD. Postpartum maternal depressive mood may be more specific to ASD, while shorter duration of breastfeeding may be related to ADHD. ASD and ADHD may have some perinatal features in common. Identification of perinatal factors for ASD and ADHD carries clinical implications in terms of primary prevention. © 2015 Japan Pediatric Society.

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders

PubMed Central

Marian, Ali J.; van Rooij, Eva; Roberts, Robert

2016-01-01

This is the first of 2 review papers on genetics and genomics appearing as part of the series on “omics.” Genomics pertains to all components of an organism’s genes, whereas genetics involves analysis of a specific gene(s) in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper. PMID:28007145

Pro-ana versus Pro-recovery: A Content Analytic Comparison of Social Media Users' Communication about Eating Disorders on Twitter and Tumblr.

PubMed

Branley, Dawn B; Covey, Judith

2017-01-01

Objectives: To compare how people communicate about eating disorders on two popular social media platforms - Twitter and Tumblr. Materials and Methods: Thematic analysis was conducted to characterize the types of communications posted, and a content analysis was undertaken of between-platform differences. Results: Three types of content (pro-ana, anti-ana, and pro-recovery) were posted on each platform. Overall, across both platforms, extreme pro-ana posts were in the minority compared to anti-ana and pro-recovery. Pro-ana posts (including 'thinspiration') were more common on Twitter than Tumblr, whereas anti-ana and pro-recovery posts were more common on Tumblr. Conclusion: The findings have implications for future research and health care relating to the treatment and prevention of eating disorders. Developers of future interventions targeting negative pro-ana content should remain aware of the need to avoid any detrimental impact on positive online support.

Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia.

PubMed

Rodriguez-Murillo, Laura; Xu, Bin; Roos, J Louw; Abecasis, Gonçalo R; Gogos, Joseph A; Karayiorgou, Maria

2014-03-01

We previously reported linkage of schizophrenia and schizoaffective disorder to 13q32-34 in the European descent Afrikaner population from South Africa. The nature of genetic variation underlying linkage peaks in psychiatric disorders remains largely unknown and both rare and common variants may be contributing. Here, we examine the contribution of common variants located under the 13q32-34 linkage region. We used densely spaced SNPs to fine map the linkage peak region using both a discovery sample of 415 families and a meta-analysis incorporating two additional replication family samples. In a second phase of the study, we use one family-based data set with 237 families and independent case-control data sets for fine mapping of the common variant association signal using HapMap SNPs. We report a significant association with a genetic variant (rs9583277) within the gene encoding for the myosin heavy-chain Myr 8 (MYO16), which has been implicated in neuronal phosphoinositide 3-kinase signaling. Follow-up analysis of HapMap variation within MYO16 in a second set of Afrikaner families and additional case-control data sets of European descent highlighted a region across introns 2-6 as the most likely region to harbor common MYO16 risk variants. Expression analysis revealed a significant increase in the level of MYO16 expression in the brains of schizophrenia patients. Our results suggest that common variation within MYO16 may contribute to the genetic liability to schizophrenia.

Anxiety in Children and Adolescents with Autism Spectrum Disorders

PubMed Central

White, Susan W.; Oswald, Donald; Ollendick, Thomas; Scahill, Lawrence

2009-01-01

Anxiety and poor stress management are common concerns in clinical samples of children with autism spectrum disorders (ASD). Anxiety may worsen during adolescence, as young people face an increasingly complex social milieu and often become more aware of their differences and interpersonal difficulties. This review summarizes the state of research on the prevalence, phenomenology, and treatment of anxiety in youth with autism and related conditions such as Asperger’s disorder. Using search words autism, asperger(s), or pervasive developmental disorder and anxiety or anxious to find reports published between 1990 and 2008, this review identified 40 papers. The results of the review suggest that anxiety, whether measured categorically or dimensionally, is indeed common in children and adolescents with autism spectrum disorders and may be a source of additional morbidity. The assessment of anxiety disorders in ASD should be conducted using multiple informants and modalities, as children with ASD often do not display age-typical symptoms of anxiety. To date, relatively few controlled intervention studies using well-characterized samples have been conducted despite preliminary evidence for efficacy of select pharmacological and psychosocial approaches. Recommendations for future applied research are presented and clinical implications are explored. PMID:19223098

Music therapy and music medicine for children and adolescents.

PubMed

Yinger, Olivia Swedberg; Gooding, Lori

2014-07-01

This article summarizes the research on music therapy and music medicine for children and adolescents with diagnoses commonly treated by psychiatrists. Music therapy and music medicine are defined, effects of music on the brain are described, and music therapy research in psychiatric treatment is discussed. Music therapy research with specific child/adolescent populations is summarized, including disorders usually diagnosed in childhood, substance abuse, mood/anxiety disorders, and eating disorders. Clinical implications are listed, including suggestions for health care professionals seeking to use music medicine techniques. Strengths and weaknesses of music therapy treatment are discussed, as well as areas for future research. Published by Elsevier Inc.

Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

PubMed

Serretti, Alessandro; Chiesa, Alberto; Calati, Raffaella; Linotte, Sylvie; Sentissi, Othman; Papageorgiou, Konstantinos; Kasper, Siegfried; Zohar, Joseph; De Ronchi, Diana; Mendlewicz, Julien; Amital, Daniela; Montgomery, Stuart; Souery, Daniel

2013-03-01

The extent to which a family history of mood disorders and suicide could impact on clinical features of patients suffering from major depression (MD) and bipolar disorder (BD) has received relatively little attention so far. The aim of the present work is, therefore, to assess the clinical implications of the presence of at least one first- and/or second-degree relative with a history of MD, BD and suicide in a large sample of patients with MD or BD. One thousand one hundred and fifty-seven subjects with MD and 686 subjects with BD were recruited within the context of two large projects. The impact of a family history of MD, BD, and suicide-considered both separately and together-on clinical and socio-demographic variables was investigated. A family history of MD, BD, and suicide was more common in BD patients than in MD patients. A positive family history of mood disorders and/or suicide as well as a positive family history of MD and BD separately considered, but not a positive history of suicide alone, were significantly associated with a comorbidity with several anxiety disorders and inversely associated with age of onset. The clinical implications as well as the limitations of our findings are discussed.

Comorbidity in Pediatric Bipolar Disorder

PubMed Central

Joshi, Gagan; Wilens, Timothy

2013-01-01

Synopsis A growing literature shows the pervasiveness and importance of comorbidity in youth with bipolar disorder (BPD). For instance, up to 90% of youth with BPD have been described to manifest comorbidity with attention deficit hyperactivity disorder. Multiple anxiety, substance use, and disruptive behavior disorders are the other most commonly reported comorbidities with BPD. Moreover, important recent data highlights the importance of obsessive compulsive and pervasive developmental illness in the context of BPD. Data suggests that not only special developmental relationships are operant in context to comorbidity, but also that the presence of comorbid disorders with BPD results in a more severe clinical condition. Moreover, the presence of comorbidity has therapeutic implications for the treatment response for both BPD and the associated comorbid disorder. Future longitudinal studies to address the relationship and the impact of comorbid disorders on course and therapeutic response over time are required in youth with BPD. PMID:19264265

Dopamine, Working Memory, and Training Induced Plasticity: Implications for Developmental Research

ERIC Educational Resources Information Center

Soderqvist, Stina; Bergman Nutley, Sissela; Peyrard-Janvid, Myriam; Matsson, Hans; Humphreys, Keith; Kere, Juha; Klingberg, Torkel

2012-01-01

Cognitive deficits and particularly deficits in working memory (WM) capacity are common features in neuropsychiatric disorders. Understanding the underlying mechanisms through which WM capacity can be improved is therefore of great importance. Several lines of research indicate that dopamine plays an important role not only in WM function but also…

Hypothesis: Grandiosity and Guilt Cause Paranoia; Paranoid Schizophrenia is a Psychotic Mood Disorder; a Review

PubMed Central

Lake, Charles Raymond

2008-01-01

Delusional paranoia has been associated with severe mental illness for over a century. Kraepelin introduced a disorder called “paranoid depression,” but “paranoid” became linked to schizophrenia, not to mood disorders. Paranoid remains the most common subtype of schizophrenia, but some of these cases, as Kraepelin initially implied, may be unrecognized psychotic mood disorders, so the relationship of paranoid schizophrenia to psychotic bipolar disorder warrants reevaluation. To address whether paranoia associates more with schizophrenia or mood disorders, a selected literature is reviewed and 11 cases are summarized. Comparative clinical and recent molecular genetic data find phenotypic and genotypic commonalities between patients diagnosed with schizophrenia and psychotic bipolar disorder lending support to the idea that paranoid schizophrenia could be the same disorder as psychotic bipolar disorder. A selected clinical literature finds no symptom, course, or characteristic traditionally considered diagnostic of schizophrenia that cannot be accounted for by psychotic bipolar disorder patients. For example, it is hypothesized here that 2 common mood-based symptoms, grandiosity and guilt, may underlie functional paranoia. Mania explains paranoia when there are grandiose delusions that one's possessions are so valuable that others will kill for them. Similarly, depression explains paranoia when delusional guilt convinces patients that they deserve punishment. In both cases, fear becomes the overwhelming emotion but patient and physician focus on the paranoia rather than on underlying mood symptoms can cause misdiagnoses. This study uses a clinical, case-based, hypothesis generation approach that warrants follow-up with a larger representative sample of psychotic patients followed prospectively to determine the degree to which the clinical course observed herein is typical of all such patients. Differential diagnoses, nomenclature, and treatment implications are discussed because bipolar patients misdiagnosed with schizophrenia are severely misserved. PMID:18056109

Hypothesis: grandiosity and guilt cause paranoia; paranoid schizophrenia is a psychotic mood disorder; a review.

PubMed

Lake, Charles Raymond

2008-11-01

Delusional paranoia has been associated with severe mental illness for over a century. Kraepelin introduced a disorder called "paranoid depression," but "paranoid" became linked to schizophrenia, not to mood disorders. Paranoid remains the most common subtype of schizophrenia, but some of these cases, as Kraepelin initially implied, may be unrecognized psychotic mood disorders, so the relationship of paranoid schizophrenia to psychotic bipolar disorder warrants reevaluation. To address whether paranoia associates more with schizophrenia or mood disorders, a selected literature is reviewed and 11 cases are summarized. Comparative clinical and recent molecular genetic data find phenotypic and genotypic commonalities between patients diagnosed with schizophrenia and psychotic bipolar disorder lending support to the idea that paranoid schizophrenia could be the same disorder as psychotic bipolar disorder. A selected clinical literature finds no symptom, course, or characteristic traditionally considered diagnostic of schizophrenia that cannot be accounted for by psychotic bipolar disorder patients. For example, it is hypothesized here that 2 common mood-based symptoms, grandiosity and guilt, may underlie functional paranoia. Mania explains paranoia when there are grandiose delusions that one's possessions are so valuable that others will kill for them. Similarly, depression explains paranoia when delusional guilt convinces patients that they deserve punishment. In both cases, fear becomes the overwhelming emotion but patient and physician focus on the paranoia rather than on underlying mood symptoms can cause misdiagnoses. This study uses a clinical, case-based, hypothesis generation approach that warrants follow-up with a larger representative sample of psychotic patients followed prospectively to determine the degree to which the clinical course observed herein is typical of all such patients. Differential diagnoses, nomenclature, and treatment implications are discussed because bipolar patients misdiagnosed with schizophrenia are severely misserved.

Economic implications of sleep disorders.

PubMed

Skaer, Tracy L; Sclar, David A

2010-01-01

Sleep disorders such as insomnia, obstructive sleep apnoea (OSA), excessive daytime sleepiness (EDS) and fatigue, sleep deprivation and restless legs syndrome (RLS) are increasingly seen in clinical practice. Sleep is considered vital for preserving daytime cognitive function and physiological well-being. Sleep insufficiency may have deleterious effects on work-life balance, overall health and safety. The consequential economic burden at both the individual and societal levels is significant. Moreover, sleep disorders are commonly associated with other major medical problems such as chronic pain, cardiovascular disease, mental illness, dementias, gastrointestinal disorders and diabetes mellitus. Thus, in order to properly care for patients presenting with sleep-related morbidity, and to reduce the consequential economic burden, accurate screening efforts and efficacious/cost-effective treatments need to be developed and employed.

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia

PubMed Central

Al Eissa, Mariam M.; Fiorentino, Alessia; Sharp, Sally I.; O'Brien, Niamh L.; Wolfe, Kate; Giaroli, Giovanni; Curtis, David; Bass, Nicholas J.

2017-01-01

Summary Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas–control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC‐51‐like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases. These three missense variants and one intronic variant were genotyped in the University College London cohort of 1304 SCZ cases and 1348 ethnically matched controls. All four variants were more common in the SCZ cases than controls and combining them produced a result significant at P = 0.02. The results presented here demonstrate the importance of following up exome sequencing studies using additional datasets. The roles of ULK1 in autophagy and mTOR signalling strengthen the case that these pathways may be important in the pathophysiology of SCZ. The findings reported here await independent replication. PMID:29148569

Sleep disorders and Parkinson disease; lessons from genetics.

PubMed

Gan-Or, Ziv; Alcalay, Roy N; Rouleau, Guy A; Postuma, Ronald B

2018-01-31

Parkinson disease is a common, age-related neurodegenerative disorder, projected to afflict millions of individuals in the near future. Understanding its etiology and identifying clinical, genetic or biological markers for Parkinson disease onset and progression is therefore of major importance. Various sleep-related disorders are the most common group of non-motor symptoms in advanced Parkinson disease, but they can also occur during its prodromal phase. However, with the exception of REM sleep behavior disorder, it is unclear whether they are part of the early pathological process of Parkinson disease, or if they develop as Parkinson disease advances because of treatments and neurodegeneration progression. The advancements in genetic studies in the past two decades have generated a wealth of information, and recent genetic studies offer new insight on the association of sleep-related disorders with Parkinson disease. More specifically, comparing genetic data between Parkinson disease and sleep-related disorders can clarify their association, which may assist in determining whether they can serve as clinical markers for Parkinson disease risk or progression. In this review, we discuss the current knowledge on the genetics of sleep-related disorders in Parkinson disease context, and the potential implications on research, diagnosis, counseling and treatment. Copyright © 2018 Elsevier Ltd. All rights reserved.

Volumetric structural brain abnormalities in men with schizophrenia or antisocial personality disorder.

PubMed

Barkataki, Ian; Kumari, Veena; Das, Mrigendra; Taylor, Pamela; Sharma, Tonmoy

2006-05-15

Brain abnormalities are found in association with antisocial personality disorder and schizophrenia, the two mental disorders most implicated in violent behaviour. Structural magnetic resonance imaging was used to investigate the whole brain, cerebellum, temporal lobe, lateral ventricles, caudate nucleus, putamen, thalamus, hippocampus, amygdala and the prefrontal, pre-motor, sensorimotor, occipito-parietal regions in 13 men with antisocial personality disorder, 13 men with schizophrenia and a history of violence, 15 men with schizophrenia without violent history and 15 healthy non-violent men. Compared to controls, the antisocial personality disorder group displayed reductions in whole brain volume and temporal lobe as well as increases in putamen volume. Both schizophrenia groups regardless of violence history exhibited increased lateral ventricle volume, while the schizophrenia group with violent history showed further abnormalities including reduced whole brain and hippocampal volumes and increased putamen size. The findings suggest that individuals with antisocial personality disorder as well as those with schizophrenia and a history of violence have common neural abnormalities, but also show neuro-anatomical differences. The processes by which they came to apparently common ground may, however, differ. The finding of temporal lobe reductions prevalent among those with antisocial personality disorder and hippocampal reduction in the violent men with schizophrenia contributes support for the importance of this region in mediating violent behaviour.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

PubMed

Copes, L E; Pober, B R; Terilli, C A

2016-07-01

Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

The Role of Striatal-Enriched Protein Tyrosine Phosphatase (STEP) in Cognition

PubMed Central

Fitzpatrick, Christopher James; Lombroso, Paul J.

2011-01-01

Striatal-enriched protein tyrosine phosphatase (STEP) has recently been implicated in several neuropsychiatric disorders with significant cognitive impairments, including Alzheimer’s disease, schizophrenia, and fragile X syndrome. A model has emerged by which STEP normally opposes the development of synaptic strengthening and that disruption in STEP activity leads to aberrant synaptic function. We review the mechanisms by which STEP contributes to the etiology of these and other neuropsychiatric disorders. These findings suggest that disruptions in STEP activity may be a common mechanism for cognitive impairments in diverse illnesses. PMID:21863137

Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

PubMed

Manga, Prashiela; Kerr, Robyn; Ramsay, Michèle; Kromberg, Jennifer G R

2013-07-29

Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Despite the fact that multiple genes account for the various forms of OCA, the phenotypes of all four forms result from disruption in the maturation and trafficking of the enzyme tyrosinase. OCA2 is the most prevalent autosomal recessive disorder among southern African blacks, affecting 1/3 900 individuals; while OCA3, although rare, is most prevalent in southern Africa. Another common pigmentation disorder in southern Africa is vitiligo, which affects 1 - 2% of people worldwide. Vitiligo is a complex, acquired disorder in which melanocytes are destroyed due to an autoimmune response. The aetiology underlying this disorder is poorly understood, although recent genetic association studies have begun to shed light on the contributing factors. Pigmentation disorders have significant psychosocial implications and co-morbidities, yet therapies are still lacking. Recent progress in our understanding of the pathobiology of both albinism and vitiligo may herald novel treatment strategies for these disorders. 

Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis.

PubMed

Chase, Charles J; Holak, Elena J; Pagel, Paul S

2013-08-01

Noonan syndrome is a relatively common genetically transmitted disorder characterized by facial, cardiac, and musculoskeletal abnormalities. The management of a 27 year old woman with Noonan syndrome at 23 weeks' gestation, presenting with premature labor, who required an emergent Cesarean section for placental abruption, is discussed. In addition to Noonan syndrome, this patient had bacterial endocarditis involving the mitral and aortic valves. The anesthetic implications of Noonan syndrome and endocarditis during pregnancy are presented. © 2013 Elsevier Inc. All rights reserved.

Gender identity disorder and schizophrenia: neurodevelopmental disorders with common causal mechanisms?

PubMed

Rajkumar, Ravi Philip

2014-01-01

Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.

Gender Identity Disorder and Schizophrenia: Neurodevelopmental Disorders with Common Causal Mechanisms?

PubMed Central

Rajkumar, Ravi Philip

2014-01-01

Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed. PMID:25548672

Regulation of Cerebral Cortical Size and Neuron Number by Fibroblast Growth Factors: Implications for Autism

ERIC Educational Resources Information Center

Vaccarino, Flora M.; Grigorenko, Elena L.; Smith, Karen Muller; Stevens, Hanna E.

2009-01-01

Increased brain size is common in children with autism spectrum disorders. Here we propose that an increased number of cortical excitatory neurons may underlie the increased brain volume, minicolumn pathology and excessive network excitability, leading to sensory hyper-reactivity and seizures, which are often found in autism. We suggest that…

An Analysis of Verbal Stimulus Control in Intraverbal Behavior: Implications for Practice and Applied Research

ERIC Educational Resources Information Center

Eikeseth, Svein; Smith, Dean P.

2013-01-01

A common characteristic of the language deficits experienced by children with autism (and other developmental disorders) is their failure to acquire a complex intraverbal repertoire. The difficulties with learning intraverbal behaviors may, in part, be related to the fact that the stimulus control for such behaviors usually involves highly complex…

Prevalence and correlates of atypical patterns of drug use progression: findings from the South African Stress and Health Study

PubMed Central

Myers, B; van Heerden, MS; Grimsrud, A; Myer, L; Williams, DR; Stein, DJ

2012-01-01

Objective Atypical sequences of drug use progression are thought to have important implications for the development of substance dependence. The extent to which this assumption holds for South African populations is unknown. This paper attempts to address this gap by examining the prevalence and correlates of atypical patterns of drug progression among South Africans. Method Data on substance use and other mental health disorders from a nationally representative sample of 4351 South Africans were analysed. Weighted cross tabulations were used to estimate prevalence and correlates of atypical patterns of drug use progression. Results Overall, 12.2% of the sample reported atypical patterns of drug use progression. The most common violation was the use of extra-medical drugs prior to alcohol and tobacco. Gender was significantly associated with atypical patterns of drug use with the risk pattern varying by the type of drug. None of the anxiety or mood disorders were associated with atypical patterns of use. Atypical patterns of drug use were not associated with increased risk for a lifetime substance use disorder. Conclusion Atypical patterns of drug use initiation seem more prevalent in South Africa compared to other countries. The early use of extra-medical drugs is common, especially among young women. Drug availability and social environmental factors may influence patterns of drug use. The findings have important implications for prevention initiatives and future research. PMID:21509404

Fragile X-associated disorders: Don't miss them.

PubMed

Birch, Rachael C; Cohen, Jonathan; Trollor, Julian N

2017-01-01

Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed. The aim of this article is to describe fragile X-associated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders. GPs have a critical role in the identification of fragile X-associated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have important implications not only for the affected patient, but also other family members who may be at risk.

Neurotic illness

PubMed Central

Sims, A. C. P.

1985-01-01

1 With the advent of the American Psychiatric Association's Classification DSM III, the usefulness of the term neurosis as a unitary concept has been questioned. This is largely because of the psychodynamic connotations that invest the term in the USA. However there has been pragmatic development, since the word was introduced into the English language in 1784, that carries epidemiological, behavioural and phenomenological implications. This is demonstrated in the definition contained in ICD 9. 2 Disturbance of self-experience and problems with interpersonal relationships are common to all neurotic disorders, and bodily symptoms of non-organic cause are usual. Neurotic disorders are extremely frequent in the general population, amongst those who consult general practitioners and in psychiatric out-patients; they necessarily concern doctors. 3 It is concluded that what different neurotic disorders have in common is more important for classification than the differences between them. An important practical consideration is that there are general aspects of treatment appropriate for all neuroses which are of less relevance in the treatment of other psychiatric disorders. Also the provision of treatment services require different emphases for the neuroses. PMID:3994906

Preliminary study of family accommodation in youth with autism spectrum disorders and anxiety: Incidence, clinical correlates, and behavioral treatment response.

PubMed

Storch, Eric A; Zavrou, Sophia; Collier, Amanda B; Ung, Danielle; Arnold, Elysse B; Mutch, P Jane; Lewin, Adam B; Murphy, Tanya K

2015-08-01

Anxiety symptoms are common in youth with autism spectrum disorders (ASD) and directly associated with symptom severity and functional impairment. Family accommodation occurs frequently among individuals with obsessive-compulsive and anxiety disorders; to date, no data exist on the nature and correlates of family accommodation in youth with ASD and anxiety, as well as its relationship to cognitive-behavioral therapy outcome. Forty children with ASD and a comorbid anxiety disorder participated. Clinicians administered measures of ASD and anxiety disorder caseness, anxiety symptom severity, and family accommodation; parents completed questionnaires assessing social responsiveness, internalizing and externalizing behaviors, and functional impairment. A subsample of youth (n = 24) completed a course of cognitive-behavioral therapy. Family accommodation was common and positively correlated with anxiety symptom severity, but not functional impairment, general internalizing symptoms, externalizing behavior, or social responsiveness. Family accommodation decreased following cognitive-behavioral therapy with decreases in family accommodation being associated with decreases in anxiety levels. Treatment responders reported lower family accommodation frequency and lower parent impact relative to non-responders. Clinical implications of this study in assessing and psychotherapeutically treating youth with ASD and comorbid anxiety are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

Mitochondria: the next (neurode)generation

PubMed Central

Schon, Eric A.; Przedborski, Serge

2012-01-01

SUMMARY Adult-onset neurodegenerative disorders are disabling and often fatal diseases of the nervous system whose underlying mechanisms of cell death remain, in most instances, unknown. Defects in mitochondrial respiration had previously been proposed to contribute to the occurrence of many, if not all of the most common neurodegenerative disorders. However, the discovery of genes mutated in hereditary forms of these enigmatic diseases has additionally suggested defects in mitochondrial dynamics. Such disturbances can lead to changes in mitochondrial trafficking, in interorganellar communication, and in mitochondrial quality control. These new mechanisms by which mitochondria may also be linked to neurodegeneration will likely have far-reaching implications for our understanding of the pathophysiology and treatment of adult-onset neurodegenerative disorders. PMID:21689593

Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PubMed

Baeza-Velasco, Carolina; Van den Bossche, Thomas; Grossin, Daniel; Hamonet, Claude

2016-06-01

Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

Fine Mapping on Chromosome 13q32–34 and Brain Expression Analysis Implicates MYO16 in Schizophrenia

PubMed Central

Rodriguez-Murillo, Laura; Xu, Bin; Roos, J Louw; Abecasis, Gonçalo R; Gogos, Joseph A; Karayiorgou, Maria

2014-01-01

We previously reported linkage of schizophrenia and schizoaffective disorder to 13q32–34 in the European descent Afrikaner population from South Africa. The nature of genetic variation underlying linkage peaks in psychiatric disorders remains largely unknown and both rare and common variants may be contributing. Here, we examine the contribution of common variants located under the 13q32–34 linkage region. We used densely spaced SNPs to fine map the linkage peak region using both a discovery sample of 415 families and a meta-analysis incorporating two additional replication family samples. In a second phase of the study, we use one family-based data set with 237 families and independent case–control data sets for fine mapping of the common variant association signal using HapMap SNPs. We report a significant association with a genetic variant (rs9583277) within the gene encoding for the myosin heavy-chain Myr 8 (MYO16), which has been implicated in neuronal phosphoinositide 3-kinase signaling. Follow-up analysis of HapMap variation within MYO16 in a second set of Afrikaner families and additional case–control data sets of European descent highlighted a region across introns 2–6 as the most likely region to harbor common MYO16 risk variants. Expression analysis revealed a significant increase in the level of MYO16 expression in the brains of schizophrenia patients. Our results suggest that common variation within MYO16 may contribute to the genetic liability to schizophrenia. PMID:24141571

The Co-Occurrence of Autism and Attention Deficit Hyperactivity Disorder in Children – What Do We Know?

PubMed Central

Leitner, Yael

2014-01-01

Symptoms of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD) often co-occur. The DSM-IV had specified that an ASD diagnosis is an exclusion criterion for ADHD, thereby limiting research of this common clinical co-occurrence. As neurodevelopmental disorders, both ASD and ADHD share some phenotypic similarities, but are characterized by distinct diagnostic criteria. The present review will examine the frequency and implications of this clinical co-occurrence in children, with an emphasis on the available data regarding pre-school age. The review will highlight possible etiologies explaining it, and suggest future research directions necessary to enhance our understanding of both etiology and therapeutic interventions, in light of the new DSM-V criteria, allowing for a dual diagnosis. PMID:24808851

Reading and Language Disorders: The Importance of Both Quantity and Quality

PubMed Central

Newbury, Dianne F.; Monaco, Anthony P.; Paracchini, Silvia

2014-01-01

Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a genetic basis, but we expect the contributing genetic factors to be complex in nature. To date, only a few genes have been implicated in these traits. Their functional characterization has provided novel insight into the biology of neurodevelopmental disorders. However, the lack of biological markers and clear diagnostic criteria have prevented the collection of the large sample sizes required for well-powered genome-wide screens. One of the main challenges of the field will be to combine careful clinical assessment with high throughput genetic technologies within multidisciplinary collaborations. PMID:24705331

Response Inhibition and Interference Control in Obsessive–Compulsive Spectrum Disorders

PubMed Central

van Velzen, Laura S.; Vriend, Chris; de Wit, Stella J.; van den Heuvel, Odile A.

2014-01-01

Over the past 20 years, motor response inhibition and interference control have received considerable scientific effort and attention, due to their important role in behavior and the development of neuropsychiatric disorders. Results of neuroimaging studies indicate that motor response inhibition and interference control are dependent on cortical–striatal–thalamic–cortical (CSTC) circuits. Structural and functional abnormalities within the CSTC circuits have been reported for many neuropsychiatric disorders, including obsessive–compulsive disorder (OCD) and related disorders, such as attention-deficit hyperactivity disorder, Tourette’s syndrome, and trichotillomania. These disorders also share impairments in motor response inhibition and interference control, which may underlie some of their behavioral and cognitive symptoms. Results of task-related neuroimaging studies on inhibitory functions in these disorders show that impaired task performance is related to altered recruitment of the CSTC circuits. Previous research has shown that inhibitory performance is dependent upon dopamine, noradrenaline, and serotonin signaling, neurotransmitters that have been implicated in the pathophysiology of these disorders. In this narrative review, we discuss the common and disorder-specific pathophysiological mechanisms of inhibition-related dysfunction in OCD and related disorders. PMID:24966828

Endothelial dysfunction in metabolic and vascular disorders.

PubMed

Polovina, Marija M; Potpara, Tatjana S

2014-03-01

Vascular endothelium has important regulatory functions in the cardiovascular system and a pivotal role in the maintenance of vascular health and metabolic homeostasis. It has long been recognized that endothelial dysfunction participates in the pathogenesis of atherosclerosis from early, preclinical lesions to advanced, thrombotic complications. In addition, endothelial dysfunction has been recently implicated in the development of insulin resistance and type 2 diabetes mellitus (T2DM). Considering that states of insulin resistance (eg, metabolic syndrome, impaired fasting glucose, impaired glucose tolerance, and T2DM) represent the most prevalent metabolic disorders and risk factors for atherosclerosis, it is of considerable scientific and clinical interest that both metabolic and vascular disorders have endothelial dysfunction as a common background. Importantly, endothelial dysfunction has been associated with adverse outcomes in patients with established cardiovascular disease, and a growing body of evidence indicates that endothelial dysfunction also imparts adverse prognosis in states of insulin resistance. In this review, we discuss the association of insulin resistance and T2DM with endothelial dysfunction and vascular disease, with a focus on the underlying mechanisms and prognostic implications of the endothelial dysfunction in metabolic and vascular disorders. We also address current therapeutic strategies for the improvement of endothelial dysfunction.

Typology of Internet gaming disorder and its clinical implications.

PubMed

Lee, Seung-Yup; Lee, Hae Kook; Choo, Hyekyung

2017-07-01

Various perspectives exist regarding Internet gaming disorder. While the concept of behavioral addiction is gaining recognition, some view the phenomenon as merely excessive indulgence in online pastimes. Still, in recent years, complaints from patients or their family members about problems related to Internet use, particularly Internet gaming, have become more common. However, the clinical picture of Internet gaming disorder could be obscured by its heterogeneous manifestations with other intertwined factors, such as psychiatric comorbidities, neurodevelopmental factors, sociocultural factors, and game-related factors, which may influence the pathogenesis as well as the clinical course. To mitigate such problems, clinicians should be able to consider diverse aspects related to Internet gaming disorder. Classifying such a heterogeneous problem into subtypes that share a similar etiology or phenomenology may provide additional clues in the diagnostic process and allow us to designate available clinical resources for particularly vulnerable factors. In this review paper, we suggest a typology of 'impulsive/aggressive,' 'emotionally vulnerable,' 'socially conditioned,' and 'not otherwise specified' as subtypes of the heterogeneous phenomena of pathological Internet gaming. The implications of these subtypes for assessment and treatment planning will also be highlighted. © 2016 The Authors. Psychiatry and Clinical Neurosciences © 2016 Japanese Society of Psychiatry and Neurology.

Vergence and Strabismus in Neurodegenerative Disorders

PubMed Central

Kang, Sarah L.; Shaikh, Aasef G.; Ghasia, Fatema F.

2018-01-01

Maintaining proper eye alignment is necessary to generate a cohesive visual image. This involves the coordination of complex neural networks, which can become impaired by various neurodegenerative diseases. When the vergence system is affected, this can result in strabismus and disorienting diplopia. While previous studies have detailed the effect of these disorders on other eye movements, such as saccades, relatively little is known about strabismus. Here, we focus on the prevalence, clinical characteristics, and treatment of strabismus and disorders of vergence in Parkinson’s disease, spinocerebellar ataxia, Huntington disease, and multiple system atrophy. We find that vergence abnormalities may be more common in these disorders than previously thought. In Parkinson’s disease, the evidence suggests that strabismus is related to convergence insufficiency; however, it is responsive to dopamine replacement therapy and can, therefore, fluctuate with medication “on” and “off” periods throughout the day. Diplopia is also established as a side effect of deep brain stimulation and is thought to be related to stimulation of the subthalamic nucleus and extraocular motor nucleus among other structures. In regards to the spinocerebellar ataxias, oculomotor symptoms are common in many subtypes, but diplopia is most common in SCA3 also known as Machado–Joseph disease. Ophthalmoplegia and vergence insufficiency have both been implicated in strabismus in these patients, but cannot fully explain the properties of the strabismus, suggesting the involvement of other structures as well. Strabismus has not been reported as a common finding in Huntington disease or atypical parkinsonian syndromes and more studies are needed to determine how these disorders affect binocular alignment.

Pro-ana versus Pro-recovery: A Content Analytic Comparison of Social Media Users’ Communication about Eating Disorders on Twitter and Tumblr

PubMed Central

Branley, Dawn B.; Covey, Judith

2017-01-01

Objectives: To compare how people communicate about eating disorders on two popular social media platforms – Twitter and Tumblr. Materials and Methods: Thematic analysis was conducted to characterize the types of communications posted, and a content analysis was undertaken of between-platform differences. Results: Three types of content (pro-ana, anti-ana, and pro-recovery) were posted on each platform. Overall, across both platforms, extreme pro-ana posts were in the minority compared to anti-ana and pro-recovery. Pro-ana posts (including ‘thinspiration’) were more common on Twitter than Tumblr, whereas anti-ana and pro-recovery posts were more common on Tumblr. Conclusion: The findings have implications for future research and health care relating to the treatment and prevention of eating disorders. Developers of future interventions targeting negative pro-ana content should remain aware of the need to avoid any detrimental impact on positive online support. PMID:28848472

DSM-5 and mental disorders in older individuals: an overview

PubMed Central

Sachdev, Perminder S.; Mohan, Adith; Taylor, Lauren; Jeste, Dilip V.

2015-01-01

About every 20 years, the American Psychiatric Association revises its official classification of mental disorders. The fifth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was published in 2013, exciting considerable commentary, debate and criticism. This article briefly describes the process that led to the DSM-5 and the main changes from the previous version (DSM-IV) that would be of interest to a geriatric psychiatrist. While there have been a number of changes in the areas of schizophrenia, bipolar disorder, depressive disorders and anxiety disorders, the majority of these changes are minor and unlikely to have major treatment implications. The classification of neurocognitive disorders has however seen a major revision and elaboration in comparison with DSM-IV, with the introduction of Mild and Major Neurocognitive Disorders, the latter equated with dementia. A common language is introduced for the criteria of the various etiological subtypes of neurocognitive disorders. All physicians treating patients with neurocognitive disorders should familiarize themselves with these criteria. Their use in research has the potential to harmonize the field. PMID:26332215

[Behavioral disorders in Parkinson's disease. Genetic, pharmacological and medico-legal aspects].

PubMed

Sobrido, M J; Dias-Silva, J J; Quintáns, B

2009-01-23

Patients with Parkinson's disease (PD) may present neuropsychiatric and conduct disorders at different stages of the development of the disease that make treatment even more difficult. The neurologist must be on the lookout for the possible appearance of alterations affecting impulse control, even from the early stages of the disease, so as to be able to prevent them or to plan a suitable adjustment of treatment. Some of the most common impulsivity disorders include hypersexuality, compulsive gambling and other addictive behaviours which, if left undetected and untreated, can end up having a destructive effect on the patient's socio-familial surroundings. Psychotic disorders (hallucinations, delusions) are often associated to advanced phases of PD and to the effect of dopamine therapy, and they are associated to a higher morbidity and mortality rate. Factors of a genetic or pharmacogenetic nature or a gene-environment interaction may account for the different individual susceptibility to disorders in the neuropsychiatric realm among patients with PD. It is wise to bear in mind the possible medico-legal implications that may stem from behavioral disorders, both for the patient and his or her family and for the physician, because situations could arise that trigger conflicts between confidentiality and preventing third parties from being harmed, as well as harm that can be attributed to the side effects of medicines. The specialist must be familiar with, foresee and propose suitable treatment for behavioral and neuropsychiatric disorders in PD with potential medico-legal implications.

Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children.

PubMed

Chandrakantan, Arvind; Poulton, Thomas J

2013-01-01

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction is an increasingly common diagnosis in patients who are being seen at tertiary care children's hospitals. We present two cases of anesthetics from the authors' own experience in addition to a comprehensive review of the disorder and anesthetic implications. © 2012 Blackwell Publishing Ltd.

Cardiovascular drugs and dental considerations.

PubMed

Wynn, R L

2000-07-01

This paper provides current information on the pharmacologic management of cardiovascular diseases. It also describes the drugs used to treat five common cardiovascular disorders--heart failure, coronary artery disease, atrial fibrillation, hypertension, and unstable angina--and lists their dental implications. This information can be used to monitor patients for potential adverse drug reactions and drug interactions and to provide an information base for medical consultation.

Men, Muscles, and Eating Disorders: an Overview of Traditional and Muscularity-Oriented Disordered Eating.

PubMed

Lavender, Jason M; Brown, Tiffany A; Murray, Stuart B

2017-06-01

There is growing recognition that eating disorder (ED) symptoms, particularly those of a muscularity-oriented nature, are more common in men than previously understood. The purpose of the current review is to describe contemporary directions and implications of research on traditional and muscularity-oriented ED symptoms among males. Evidence indicates that ED symptoms occur in a substantial minority of men. Importantly, recent research has focused on muscularity-oriented body image and disordered eating in males, demonstrating the prevalence, correlates, and consequences of maladaptive muscularity-oriented attitudes and behaviors. A growing number of assessments are available to measure these constructs in males, and preliminary treatment considerations have begun to be addressed in the literature. Research on male EDs and body image is increasingly focusing on muscularity-oriented manifestations. Continued empirical work will be critical to improve our understanding of the onset, maintenance, and treatment of muscularity-oriented disordered eating in males.

Psychiatric risk factor ANK3/Ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses

PubMed Central

Smith, Katharine R.; Kopeikina, Katherine J.; Fawcett-Patel, Jessica M.; Leaderbrand, Katherine; Gao, Ruoqi; Schürmann, Britta; Myczek, Kristoffer; Radulovic, Jelena; Swanson, Geoffrey T.; Penzes, Peter

2014-01-01

Summary Recent evidence implicates glutamatergic synapses as key pathogenic sites in psychiatric disorders. Common and rare variants in the ANK3 gene, encoding ankyrin-G, have been associated with bipolar disorder, schizophrenia, and autism. Here we demonstrate that ankyrin-G is integral to AMPAR-mediated synaptic transmission and maintenance of spine morphology. Using super-resolution microscopy we find that ankyrin-G forms distinct nanodomain structures within the spine head and neck. At these sites, it modulates mushroom spine structure and function, likely as a perisynaptic scaffold and barrier within the spine neck. Neuronal activity promotes ankyrin-G accumulation in distinct spine subdomains, where it differentially regulates NMDA receptor-dependent plasticity. These data implicate subsynaptic nanodomains containing a major psychiatric risk molecule, ankyrin-G, as having location-specific functions, and opens directions for basic and translational investigation of psychiatric risk molecules. PMID:25374361

Is EMDR an effective treatment for people diagnosed with both intellectual disability and post-traumatic stress disorder?

PubMed

Gilderthorp, Rosanna C

2015-03-01

This study aimed to critically review all studies that have set out to evaluate the use of eye movement desensitization and reprocessing (EMDR) for people diagnosed with both intellectual disability (ID) and post-traumatic stress disorder (PTSD). Searches of the online databases Psych Info, The Cochrane Database of Systematic Reviews, The Cochrane Database of Randomized Control Trials, CINAHL, ASSIA and Medline were conducted. Five studies are described and evaluated. Key positive points include the high clinical salience of the studies and their high external validity. Several common methodological criticisms are highlighted, however, including difficulty in the definition of the terms ID and PTSD, lack of control in design and a lack of consideration of ethical implications. Overall, the articles reviewed indicate cause for cautious optimism about the utility of EMDR with this population. The clinical and research implications of this review are discussed. © The Author(s) 2014.

Early Life Stress Effects on Glucocorticoid—BDNF Interplay in the Hippocampus

PubMed Central

Daskalakis, Nikolaos P.; De Kloet, Edo Ronald; Yehuda, Rachel; Malaspina, Dolores; Kranz, Thorsten M.

2015-01-01

Early life stress (ELS) is implicated in the etiology of multiple psychiatric disorders. Important biological effects of ELS are manifested in stress-susceptible regions of the hippocampus and are partially mediated by long-term effects on glucocorticoid (GC) and/or neurotrophin signaling pathways. GC-signaling mediates the regulation of stress response to maintain homeostasis, while neurotrophin signaling plays a key role in neuronal outgrowth and is crucial for axonal guidance and synaptic integrity. The neurotrophin and GC-signaling pathways co-exist throughout the central nervous system (CNS), particularly in the hippocampus, which has high expression levels of glucocorticoid-receptors (GR) and mineralocorticoid-receptors (MR) as well as brain-derived neurotrophic factor (BDNF) and its receptor, tropomyosin-related kinase receptor B (TrkB). This review addresses the effects of ELS paradigms on GC- and BDNF-dependent mechanisms and their crosstalk in the hippocampus, including potential implications for the pathogenesis of common stress-related disorders. PMID:26635521

Integrating Mechanisms for Insulin Resistance: Common Threads and Missing Links

PubMed Central

Samuel, Varman T.; Shulman, Gerald I.

2012-01-01

Insulin resistance is a complex metabolic disorder that defies a single etiological pathway. Accumulation of ectopic lipid metabolites, activation of the unfolded protein response (UPR) pathway and innate immune pathways have all been implicated in the pathogenesis of insulin resistance. However, these pathways are also closely linked to changes in fatty acid uptake, lipogenesis, and energy expenditure that can impact ectopic lipid deposition. Ultimately, accumulation of specific lipid metabolites (diacylglycerols and/or ceramides) in liver and skeletal muscle, may be a common pathway leading to impaired insulin signaling and insulin resistance. PMID:22385956

Update on obstructive sleep apnea and its relation to COPD

PubMed Central

Mieczkowski, Brian; Ezzie, Michael E

2014-01-01

Chronic obstructive pulmonary disease (COPD) is a common and preventable lung disease that affects millions of people in the United States. Sleep disorders including obstructive sleep apnea (OSA) are also common. It is not surprising that many people with COPD also suffer from OSA. This relationship, however, puts people at risk for more nocturnal desaturations and potential complications related to this, including pulmonary hypertension and heart rhythm disturbances. This update focuses on the physiology of sleep disturbances in COPD as well as the clinical implications of OSA in COPD. PMID:24748786

Incapacity of the Mind Secondary to Medication Misuse as a Not Criminally Responsible Defense.

PubMed

Prat, Sebastien S; Losier, Bruno J; Moulden, Heather M; Chaimowitz, Gary A

2017-01-01

The manifestations of disorders of the mind may play a role in the occurrence of criminal behavior. In the majority of the cases, the presence of a psychiatric disorder is cited as the reason that an individual was not fully aware of his behavior. However, other conditions, such as seizure disorders or hypoglycemia, have also been linked to an inability to understand the nature and consequences of one's actions. On occasion, these situations can be explained by a state of automatism that may be described as insane or noninsane. In this article, we describe the case of a 77-year-old man, suffering from Parkinson's disease, where the issue of criminal responsibility associated with incapacity of the mind secondary to medication misuse was raised. We elaborate on the thinking behind this opinion and the implications according to Canadian law. Although the legal outcome of this case is specific to our jurisdiction, the clinical implication may be common to any patient suffering from a similar condition and may inform physicians, families, and lawyers. © 2016 American Academy of Forensic Sciences.

Pattern of psychiatric morbidity among theft offenders remanded or referred for psychiatric evaluation and factors associated with reoffence.

PubMed

Chan, Lai Gwen; Bharat, Saluja; Dani, Dhaval Kirti

2013-06-01

In Singapore, theft and related crimes constitute more than 50% of all reported crime, and are the most common offences committed by accused persons remanded to the Institute of Mental Health (IMH), Singapore. There is a need for better understanding of the forensic psychiatric aspects of such offenders. This study aimed to determine the prevalence of psychiatric disorders among theft offenders remanded or referred for forensic assessment in 2010, compare the differences between first-time and repeat theft offenders, and identify the factors associated with reoffence. Forensic evaluations of inpatient and outpatient theft offenders that were conducted at IMH in the year 2010 were retrieved and reviewed. The sociodemographic and clinical data of first-time and repeat theft offenders were collected and compared using Student's t-test and chi-square test for continuous and categorical variables, respectively. Multivariate regression was used to identify the factors that were predictive of repeat offence. Overall, 10% of offenders had no mental illness. Substance use disorders, mood disorders and psychotic disorders were the most common diagnoses. Psychotic disorders were significantly less common in repeat offenders. Repeat offenders also tended to have a history of conduct problems in childhood. Noncompliance with psychiatric treatment was positively associated with repeat offence, while psychotic disorders were negatively associated. The pattern of psychiatric morbidity among theft offenders in Singapore has changed over the last ten years. Kleptomania remains rare. Significant differences between first-time and repeat offenders have implications on the treatment, follow-up and rehabilitation of theft offenders in Singapore.

Emotional reasoning and anxiety sensitivity: associations with social anxiety disorder in childhood.

PubMed

Alkozei, Anna; Cooper, Peter J; Creswell, Cathy

2014-01-01

Two specific cognitive constructs that have been implicated in the development and maintenance of anxiety symptoms are anxiety sensitivity and emotional reasoning, both of which relate to the experience and meaning of physical symptoms of arousal or anxiety. The interpretation of physical symptoms has been particularly implicated in theories of social anxiety disorder, where internal physical symptoms are hypothesized to influence the individual's appraisals of the self as a social object. The current study compared 75 children on measures of anxiety sensitivity and emotional reasoning: 25 with social anxiety disorder, 25 with other anxiety disorders, and 25 nonanxious children (aged 7-12 years). Children with social anxiety disorder reported higher levels of anxiety sensitivity and were more likely than both other groups to view ambiguous situations as anxiety provoking, whether physical information was present or not. There were no group differences in the extent to which physical information altered children's interpretation of hypothetical scenarios. This study is the first to investigate emotional reasoning in clinically anxious children and therefore replication is needed. In addition, those in both anxious groups commonly had comorbid conditions and, consequently, specific conclusions about social anxiety disorder need to be treated with caution. The findings highlight cognitive characteristics that may be particularly pertinent in the context of social anxiety disorder in childhood and which may be potential targets for treatment. Furthermore, the findings suggest that strategies to modify these particular cognitive constructs may not be necessary in treatments of some other childhood anxiety disorders. © 2013 The Authors. Published by Elsevier B.V. All rights reserved.

Emotional reasoning and anxiety sensitivity: Associations with social anxiety disorder in childhood☆

PubMed Central

Alkozei, Anna; Cooper, Peter J.; Creswell, Cathy

2014-01-01

Background Two specific cognitive constructs that have been implicated in the development and maintenance of anxiety symptoms are anxiety sensitivity and emotional reasoning, both of which relate to the experience and meaning of physical symptoms of arousal or anxiety. The interpretation of physical symptoms has been particularly implicated in theories of social anxiety disorder, where internal physical symptoms are hypothesized to influence the individual's appraisals of the self as a social object. Method The current study compared 75 children on measures of anxiety sensitivity and emotional reasoning: 25 with social anxiety disorder, 25 with other anxiety disorders, and 25 nonanxious children (aged 7–12 years). Results Children with social anxiety disorder reported higher levels of anxiety sensitivity and were more likely than both other groups to view ambiguous situations as anxiety provoking, whether physical information was present or not. There were no group differences in the extent to which physical information altered children's interpretation of hypothetical scenarios. Limitations This study is the first to investigate emotional reasoning in clinically anxious children and therefore replication is needed. In addition, those in both anxious groups commonly had comorbid conditions and, consequently, specific conclusions about social anxiety disorder need to be treated with caution. Conclusion The findings highlight cognitive characteristics that may be particularly pertinent in the context of social anxiety disorder in childhood and which may be potential targets for treatment. Furthermore, the findings suggest that strategies to modify these particular cognitive constructs may not be necessary in treatments of some other childhood anxiety disorders. PMID:24120086

Understanding the latent structure of the emotional disorders in children and adolescents.

PubMed

Trosper, Sarah E; Whitton, Sarah W; Brown, Timothy A; Pincus, Donna B

2012-05-01

Investigators are persistently aiming to clarify structural relationships among the emotional disorders in efforts to improve diagnostic classification. The high co-occurrence of anxiety and mood disorders, however, has led investigators to portray the current structure of anxiety and depression in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV, APA 2000) as more descriptive than empirical. This study assesses various structural models in a clinical sample of youths with emotional disorders. Three a priori factor models were tested, and the model that provided the best fit to the data showed the dimensions of anxiety and mood disorders to be hierarchically organized within a single, higher-order factor. This supports the prevailing view that the co-occurrence of anxiety and mood disorders in children is in part due to a common vulnerability (e.g., negative affectivity). Depression and generalized anxiety loaded more highly onto the higher-order factor than the other disorders, a possible explanation for the particularly high rates of comorbidity between the two. Implications for the taxonomy and treatment of mood and anxiety disorders for children and adolescents are discussed.

The association of anxiety disorders and obsessive compulsive personality disorder with anorexia nervosa: evidence from a family study with discussion of nosological and neurodevelopmental implications.

PubMed

Strober, Michael; Freeman, Roberta; Lampert, Carlyn; Diamond, Jane

2007-11-01

To investigate the association of anorexia nervosa with anxiety disorders through use of a case-control family study design. Lifetime prevalence of anxiety disorders and obsessive compulsive personality disorder was determined among 574 first-degree relatives of 152 probands with anorexia nervosa and compared to rates observed among 647 first-degree relatives of 181 never-ill control probands. Adjusting for comorbidity of the same illness in the proband, relatives of probands with anorexia nervosa, had a significantly higher prevalence of generalized anxiety, obsessive compulsive disorder, separation anxiety disorder, social phobia, panic disorder, and obsessive compulsive personality disorder compared to relatives of never-ill control probands. Anorexia nervosa may share familial liability factors in common with various anxiety phenotypes. In suggesting that a transmitted propensity for anxiety is a key aspect of vulnerability in anorexia nervosa, the findings point to research developments in the affective neurosciences, specifically the neurocircuitry of fear and anxiety, as a heuristic framework in which to interpret aspects of premorbid temperamental anxieties and clinical symptoms. (c) 2007 by Wiley Periodicals, Inc.

Serotonin transporter gene polymorphism and psychiatric disorders: Is there a link?

PubMed Central

Margoob, Mushtaq A.; Mushtaq, Dhuha

2011-01-01

Though still in infancy, the field of psychiatric genetics holds great potential to contribute to the development of new diagnostic and therapeutic options to treat these disorders. Among a large number of existing neurotransmitter systems, the serotonin system dysfunction has been implicated in many psychiatric disorders and therapeutic efficacy of many drugs is also thought to be based on modulation of serotonin. Serotonin transporter gene polymorphism is one of the most extensively studied polymorphisms in psychiatric behavioral genetics. In this article, we review the status of evidence for association between the serotonin gene polymorphism and some common mental disorders like affective disorders, post-traumatic stress disorder, obsessive-compulsive disorder, suicide, autism, and other anxiety and personality disorders. Going beyond traditional association studies, gene-environment interaction, currently gaining momentum, is also discussed in the review. While the existing information of psychiatric genetics is inadequate for putting into practice genetic testing in the diagnostic work-up of the psychiatric patient, if consistent in future research attempts, such results can be of great help to improve the clinical care of a vast majority of patients suffering from such disorders. PMID:22303036

Neural correlates of eating disorders: translational potential

PubMed Central

McAdams, Carrie J; Smith, Whitney

2015-01-01

Eating disorders are complex and serious psychiatric illnesses whose etiology includes psychological, biological, and social factors. Treatment of eating disorders is challenging as there are few evidence-based treatments and limited understanding of the mechanisms that result in sustained recovery. In the last 20 years, we have begun to identify neural pathways that are altered in eating disorders. Consideration of how these pathways may contribute to an eating disorder can provide an understanding of expected responses to treatments. Eating disorder behaviors include restrictive eating, compulsive overeating, and purging behaviors after eating. Eating disorders are associated with changes in many neural systems. In this targeted review, we focus on three cognitive processes associated with neurocircuitry differences in subjects with eating disorders such as reward, decision-making, and social behavior. We briefly examine how each of these systems function in healthy people, using Neurosynth meta-analysis to identify key regions commonly implicated in these circuits. We review the evidence for disruptions of these regions and systems in eating disorders. Finally, we describe psychiatric and psychological treatments that are likely to function by impacting these regions. PMID:26767185

A Proposal for a Dimensional Classification System Based on the Shared Features of the DSM-IV Anxiety and Mood Disorders: Implications for Assessment and Treatment

PubMed Central

Brown, Timothy A.; Barlow, David H.

2010-01-01

A wealth of evidence attests to the extensive current and lifetime diagnostic comorbidity of the DSM-IV anxiety and mood disorders. Research has shown that the considerable cross-sectional covariation of DSM-IV emotional disorders is accounted for by common higher-order dimensions such as neuroticism/behavioral inhibition (N/BI) and low positive affect/behavioral activation. Longitudinal studies have indicated that the temporal covariation of these disorders can be explained by changes in N/BI and in some cases, initial levels of N/BI are predictive of the temporal course of emotional disorders. Moreover, the marked phenotypal overlap of the DSM-IV anxiety and mood disorder constructs is a frequent source of diagnostic unreliability (e.g., temporal overlap in the shared features of generalized anxiety disorder and mood disorders, situation specificity of panic attacks in panic disorder and specific phobia). Although dimensional approaches have been considered as a method to address the drawbacks associated with the extant prototypical nosology (e.g., inadequate assessment of individual differences in disorder severity), these proposals do not reconcile key problems in current classification such as modest reliability and high comorbidity. The current paper considers an alternative approach that emphasizes empirically supported common dimensions of emotional disorders over disorder-specific criteria sets. The selection and assessment of these dimensions are discussed along with how these methods could be implemented to promote more reliable and valid diagnosis, prognosis, and treatment planning. For instance, the advantages of this classification system are discussed in context of current transdiagnostic treatment protocols that are efficaciously applied to a variety of disorders by targeting their shared features. PMID:19719339

Prader–Willi Syndrome: Genetics and Behavior

PubMed Central

Thompson, Travis; Butler, Merlin G.; MacLean, William E.; Joseph, Beth

2016-01-01

Since its inception, the John F. Kennedy Center has attempted to overcome developmental problems, which create restrictive barriers to the participation of individuals with specific disabilities in our broader society. Some of Nicholas Hobbs’s earliest efforts involved developing strategies for preventing children’s emotional and behavior problems, which interfered with their later full participation in society. Other investigators in the Kennedy Center explored ways of reducing dysfunctional repetitive movement problems and self-injury commonly associated with autism and severe mental retardation. We have become concerned about a group of people who have the potential to live largely independently (or semi-independently), to work at meaningful jobs in the community, and to make full use of the same recreational and leisure opportunities as other members of society but who are prevented from doing so because of a life-threatening behavior problem. Prader–Willi syndrome (PWS) is a genetic developmental disability characterized by a group of specific behavioral features of which an insatiable appetite is the most striking. PWS is the most commonly known genetic cause of obesity. The eating disorder associated with PWS can be so severe as to be life threatening, including eating to the point of stomach rupture and death. Though a cluster of commonly covarying clinical features are exhibited by people with this syndrome, only the eating disorder is common to all affected individuals. PWS shares behavioral features with other disorders and disabilities, such as obsessive compulsive disorder and autism, but only PWS includes the unique combination of characteristics that distinguish this syndrome. Because eating disorders such as bulimia and anorexia nervosa also share features with PWS, any light that could be shed on the causes and treatment of the eating disorder in PWS could potentially have far-reaching implications for other eating disorders as well. In this article, we review the behavioral, cognitive, and other psychological features of PWS and explore their relationships to known genetic mechanisms. PMID:27594721

Characteristic interpersonal behavior in dependent and avoidant personality disorder can be observed within very short interaction sequences.

PubMed

Leising, Daniel; Sporberg, Doreen; Rehbein, Diana

2006-08-01

We present a behavior observation study of interpersonal behavior in 96 female subjects, who had been screened for the presence of dependent, avoidant, narcissistic and histrionic personality disorder features. Each subject took part in three short role-plays, taken from assertiveness training. Afterwards, both the subject and her role-play partner judged, how assertive the subject had been. Although observation time was very short, dependent and avoidant subjects could be easily identified from their overly submissive behavior in the role-plays. Histrionic and narcissistic subjects did not show distinctive interpersonal behavior. Contrary to a common belief, higher scores on some personality disorder (PD) scales were positively related to cross-situational variability of behavior. Results are discussed with regard to their implications for clinical diagnostics, therapy and the methodology of personality disorder research in general.

Dopamine dysregulation hypothesis: the common basis for motivational anhedonia in major depressive disorder and schizophrenia?

PubMed

Szczypiński, Jan Józef; Gola, Mateusz

2018-03-24

Abnormalities in reward processing are crucial symptoms of major depressive disorder (MDD) and schizophrenia (SCH). Recent neuroscientific findings regarding MDD have led to conclusions about two different symptoms related to reward processing: motivational and consummatory anhedonia, corresponding, respectively, to impaired motivation to obtain rewards ('wanting'), and diminished satisfaction from consuming them ('liking'). One can ask: which of these is common for MDD and SCH. In our review of the latest neuroscientific studies, we show that MDD and SCH do not share consummatory anhedonia, as SCH patients usually have unaltered liking. Therefore, we investigated whether motivational anhedonia is the common symptom across MDD and SCH. With regard to the similarities and differences between the neural mechanisms of MDD and SCH, here we expand the current knowledge of motivation deficits and present the common underlying mechanism of motivational anhedonia - the dopamine dysregulation hypothesis - stating that any prolonged dysregulation in tonic dopamine signaling that exceeds the given equilibrium can lead to striatal dysfunction and motivational anhedonia. The implications for further research and treatment of MDD and SCH are also discussed.

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.

PubMed

Stewart, James B; Chinnery, Patrick F

2015-09-01

Common genetic variants of mitochondrial DNA (mtDNA) increase the risk of developing several of the major health issues facing the western world, including neurodegenerative diseases. In this Review, we consider how these mtDNA variants arose and how they spread from their origin on one single molecule in a single cell to be present at high levels throughout a specific organ and, ultimately, to contribute to the population risk of common age-related disorders. mtDNA persists in all aerobic eukaryotes, despite a high substitution rate, clonal propagation and little evidence of recombination. Recent studies have found that de novo mtDNA mutations are suppressed in the female germ line; despite this, mtDNA heteroplasmy is remarkably common. The demonstration of a mammalian mtDNA genetic bottleneck explains how new germline variants can increase to high levels within a generation, and the ultimate fixation of less-severe mutations that escape germline selection explains how they can contribute to the risk of late-onset disorders.

Enteric short-chain fatty acids: microbial messengers of metabolism, mitochondria, and mind: implications in autism spectrum disorders

PubMed Central

MacFabe, Derrick F.

2015-01-01

Clinical observations suggest that gut and dietary factors transiently worsen and, in some cases, appear to improve behavioral symptoms in a subset of persons with autism spectrum disorders (ASDs), but the reason for this is unclear. Emerging evidence suggests ASDs are a family of systemic disorders of altered immunity, metabolism, and gene expression. Pre- or perinatal infection, hospitalization, or early antibiotic exposure, which may alter gut microbiota, have been suggested as potential risk factors for ASD. Can a common environmental agent link these disparate findings? This review outlines basic science and clinical evidence that enteric short-chain fatty acids (SCFAs), present in diet and also produced by opportunistic gut bacteria following fermentation of dietary carbohydrates, may be environmental triggers in ASD. Of note, propionic acid, a major SCFA produced by ASD-associated gastrointestinal bacteria (clostridia, bacteroides, desulfovibrio) and also a common food preservative, can produce reversible behavioral, electrographic, neuroinflammatory, metabolic, and epigenetic changes closely resembling those found in ASD when administered to rodents. Major effects of these SCFAs may be through the alteration of mitochondrial function via the citric acid cycle and carnitine metabolism, or the epigenetic modulation of ASD-associated genes, which may be useful clinical biomarkers. It discusses the hypothesis that ASDs are produced by pre- or post-natal alterations in intestinal microbiota in sensitive sub-populations, which may have major implications in ASD cause, diagnosis, prevention, and treatment. PMID:26031685

Suicidality in Bipolar Disorder: The Role of Emotion-Triggered Impulsivity

PubMed Central

Johnson, Sheri L.; Carver, Charles S.; Tharp, Jordan A.

2018-01-01

A growing body of research suggests that impulsive responses to emotion more robustly predict suicidality than do other forms of impulsivity. This issue has not yet been examined within bipolar disorder, however. Participants diagnosed with bipolar I disorder (n = 133) and control participants (n = 110) diagnosed with no mood or psychotic disorder completed self-report measures of emotion-triggered impulsivity (Negative and Positive Urgency Scales) and interviews concerning lifetime suicidality. Analyses examined the effects of emotion-triggered impulsivity alone and in combination with gender, age of onset, depression severity, comorbid anxiety, comorbid substance use, and medication. A history of suicide ideation and attempts, as well as self-harm, were significantly more common in the bipolar disorder group compared with the control group. Impulsive responses to positive emotions related to suicide ideation, attempts, and self-harm within the bipolar group. Findings extend research on the importance of emotion-triggered impulsivity to a broad range of key outcomes within bipolar disorder. The discussion focuses on limitations and potential clinical implications. PMID:27406282

Neurodevelopmental disorders in children born to mothers with systemic lupus erythematosus.

PubMed

Vinet, É; Pineau, C A; Clarke, A E; Fombonne, É; Platt, R W; Bernatsky, S

2014-10-01

Children born to women with systemic lupus erythematosus seem to have a potentially increased risk of neurodevelopmental disorders compared to children born to healthy women. Recent experimental data suggest in utero exposure to maternal antibodies and cytokines as important risk factors for neurodevelopmental disorders. Interestingly, women with systemic lupus erythematosus display high levels of autoantibodies and cytokines, which have been shown, in animal models, to alter fetal brain development and induce behavioral anomalies in offspring. Furthermore, subjects with systemic lupus erythematosus and neurodevelopmental disorders share a common genetic predisposition, which could impair the fetal immune response to in utero immunologic insults. Moreover, systemic lupus erythematosus pregnancies are at increased risk of adverse obstetrical outcomes and medication exposures, which have been implicated as potential risk factors for neurodevelopmental disorders. In this article, we review the current state of knowledge on neurodevelopmental disorders and their potential determinants in systemic lupus erythematosus offspring. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Associations in the longitudinal course of body dysmorphic disorder with major depression, obsessive-compulsive disorder, and social phobia.

PubMed

Phillips, Katharine A; Stout, Robert L

2006-06-01

Body dysmorphic disorder (BDD) is an impairing and relatively common disorder that has high comorbidity with certain Axis I disorders. However, the longitudinal associations between BDD and comorbid disorders have not previously been examined. Such information may shed light on the nature of BDD's relationship to putative "near-neighbor" disorders, such as major depression, obsessive-compulsive disorder (OCD), and social phobia. This study examined time-varying associations between BDD and these comorbid disorders in 161 participants over 1-3 years of follow-up in the first prospective longitudinal study of the course of BDD. We found that BDD had significant longitudinal associations with major depression--that is, change in the status of BDD and major depression was closely linked in time, with improvement in major depression predicting BDD remission, and, conversely, improvement in BDD predicting depression remission. We also found that improvement in OCD predicted BDD remission, but that BDD improvement did not predict OCD remission. No significant longitudinal associations were found for BDD and social phobia (although the results for analyses of OCD and social phobia were less numerically stable). These findings suggest (but do not prove) that BDD may be etiologically linked to major depression and OCD, i.e., that BDD may be a member of both the putative OCD spectrum and the affective spectrum. However, BDD does not appear to simply be a symptom of these comorbid disorders, as BDD symptoms persisted in a sizable proportion of subjects who remitted from these comorbid disorders. Additional studies are needed to elucidate the nature of BDD's relationship to commonly co-occurring disorders, as this issue has important theoretical and clinical implications.

Associations in the Longitudinal Course of Body Dysmorphic Disorder with Major Depression, Obsessive Compulsive Disorder, and Social Phobia

PubMed Central

Phillips, Katharine A.; Stout, Robert L.

2009-01-01

Body dysmorphic disorder (BDD) is an impairing and relatively common disorder that has high comorbidity with certain Axis I disorders. However, the longitudinal associations between BDD and comorbid disorders have not previously been examined. Such information may shed light on the nature of BDD’s relationship to putative “near-neighbor” disorders, such as major depression, obsessive-compulsive disorder (OCD), and social phobia. This study examined time-varying associations between BDD and these comorbid disorders in 161 participants over 1 to 3 years of follow-up in the first prospective longitudinal study of the course of BDD. We found that BDD had significant longitudinal associations with major depression – that is, change in the status of BDD and major depression were closely linked in time, with improvement in major depression predicting BDD remission, and, conversely, improvement in BDD predicting depression remission. We also found that improvement in OCD predicted BDD remission, but that BDD improvement did not predict OCD remission. No significant longitudinal associations were found for BDD and social phobia (although the results for analyses of OCD and social phobia were less numerically stable). These findings suggest (but do not prove) that BDD may be etiologically linked to major depression and OCD – i.e., that BDD may be a member of both the putative OCD spectrum and the affective spectrum. However, BDD does not appear to simply be a symptom of these comorbid disorders, as BDD symptoms persisted in a sizable proportion of subjects who remitted from these comorbid disorders. Additional studies are needed to elucidate the nature of BDD’s relationship to commonly co-occurring disorders, as this issue has important theoretical and clinical implications. PMID:16309706

Reduced Default Mode Connectivity in Adolescents With Conduct Disorder.

PubMed

Broulidakis, M John; Fairchild, Graeme; Sully, Kate; Blumensath, Thomas; Darekar, Angela; Sonuga-Barke, Edmund J S

2016-09-01

Conduct disorder (CD) is characterized by impulsive, aggressive, and antisocial behaviors that might be related to deficits in empathy and moral reasoning. The brain's default mode network (DMN) has been implicated in self-referential cognitive processes of this kind. This study examined connectivity between key nodes of the DMN in 29 adolescent boys with CD and 29 age- and sex-matched typically developing adolescent boys. The authors ensured that group differences in DMN connectivity were not explained by comorbidity with other disorders by systematically controlling for the effects of substance use disorders (SUDs), attention-deficit/hyperactivity disorder (ADHD) symptoms, psychopathic traits, and other common mental health problems. Only after adjusting for co-occurring ADHD symptoms, the group with CD showed hypoconnectivity between core DMN regions compared with typically developing controls. ADHD symptoms were associated with DMN hyperconnectivity. There was no effect of psychopathic traits on DMN connectivity in the group with CD, and the key results were unchanged when controlling for SUDs and other common mental health problems. Future research should directly investigate the possibility that the aberrant DMN connectivity observed in the present study contributes to CD-related deficits in empathy and moral reasoning and examine self-referential cognitive processes in CD more generally. Copyright © 2016 American Academy of Child and Adolescent Psychiatry. All rights reserved.

Psychiatry in Former Socialist Countries: Implications for North Korean Psychiatry

PubMed Central

Park, Young Su; Park, Sang Min; Jun, Jin Yong

2014-01-01

Very little information is available regarding psychiatry in North Korea, which is based on the legacy of Soviet psychiatry. This paper reviews the characteristics of psychiatry in former socialist countries and discusses its implications for North Korean psychiatry. Under socialism, psychiatric disorders were attributed primarily to neurophysiologic or neurobiological origins. Psychosocial or psychodynamic etiology was denied or distorted in line with the political ideology of the Communist Party. Psychiatry was primarily concerned with psychotic disorders, and this diagnostic category was sometimes applied based on political considerations. Neurotic disorders were ignored by psychiatry or were regarded as the remnants of capitalism. Several neurotic disorders characterized by high levels of somatization were considered to be neurological or physical in nature. The majority of "mental patients" were institutionalized for a long periods in large-scale psychiatric hospitals. Treatment of psychiatric disorders depended largely on a few outdated biological therapies. In former socialist countries, psychodynamic psychotherapy was not common, and psychiatric patients were likely to experience social stigma. According to North Korean doctors living in South Korea, North Korean psychiatry is heavily influenced by the aforementioned traditions of psychiatry. During the post-socialist transition, the suicide rate in many of these countries dramatically increased. Given such mental health crises in post-socialist transitional societies, the field of psychiatry may face major challenges in a future unified Korea. PMID:25395966

Obesity and psychiatric disorders: commonalities in dysregulated biological pathways and their implications for treatment.

PubMed

Lopresti, Adrian L; Drummond, Peter D

2013-08-01

Rates of obesity are higher than normal across a range of psychiatric disorders, including major depressive disorder, bipolar disorder, schizophrenia and anxiety disorders. While the problem of obesity is generally acknowledged in mental health research and treatment, an understanding of their bi-directional relationship is still developing. In this review the association between obesity and psychiatric disorders is summarised, with a specific emphasis on similarities in their disturbed biological pathways; namely neurotransmitter imbalances, hypothalamus-pituitary-adrenal axis disturbances, dysregulated inflammatory pathways, increased oxidative and nitrosative stress, mitochondrial disturbances, and neuroprogression. The applicability and effectiveness of weight-loss interventions in psychiatric populations are reviewed along with their potential efficacy in ameliorating disturbed biological pathways, particularly those mediating inflammation and oxidative stress. It is proposed that weight loss may not only be an effective intervention to enhance physical health but may also improve mental health outcomes and slow the rate of neuroprogressive disturbances in psychiatric disorders. Areas of future research to help expand our understanding of the relationship between obesity and psychiatric disorders are also outlined. Copyright © 2013 Elsevier Inc. All rights reserved.

Implications of attachment theory and research for the assessment and treatment of eating disorders.

PubMed

Tasca, Giorgio A; Ritchie, Kerri; Balfour, Louise

2011-09-01

In this paper, we review the research literature on attachment and eating disorders and suggest a framework for assessing and treating attachment functioning in patients with an eating disorder. Treatment outcomes for individuals with eating disorders tend to be moderate. Those with attachment-associated insecurities are likely to be the least to benefit from current symptom-focused therapies. We describe the common attachment categories (secure, avoidant, anxious), and then describe domains of attachment functioning within each category: affect regulation, interpersonal style, coherence of mind, and reflective functioning. We also note the impact of disorganized mental states related to loss or trauma. Assessing these domains of attachment functioning can guide focused interventions in the psychotherapy of eating disorders. Case examples are presented to illustrate assessment, case formulation, and group psychotherapy of eating disorders that are informed by attachment theory. Tailoring treatments to improve attachment functioning for patients with an eating disorder will likely result in better outcomes for those suffering from these particularly burdensome disorders. (c) 2011 APA, all rights reserved.

Personality Disorders in Obsessive-Compulsive Disorder: A Comparative Study versus Other Anxiety Disorders

PubMed Central

Pena-Garijo, Josep; Edo Villamón, Silvia; Ruipérez, M. Ángeles

2013-01-01

Objective. The purpose of this paper is to provide evidence for the relationship between personality disorders (PDs), obsessive compulsive disorder (OCD), and other anxiety disorders different from OCD (non-OCD) symptomatology. Method. The sample consisted of a group of 122 individuals divided into three groups (41 OCD; 40 non-OCD, and 41 controls) matched by sex, age, and educational level. All the individuals answered the IPDE questionnaire and were evaluated by means of the SCID-I and SCID-II interviews. Results. Patients with OCD and non-OCD present a higher presence of PD. There was an increase in cluster C diagnoses in both groups, with no statistically significant differences between them. Conclusions. Presenting anxiety disorder seems to cause a specific vulnerability for PD. Most of the PDs that were presented belonged to cluster C. Obsessive Compulsive Personality Disorder (OCPD) is the most common among OCD. However, it does not occur more frequently among OCD patients than among other anxious patients, which does not confirm the continuum between obsessive personality and OCD. Implications for categorical and dimensional diagnoses are discussed. PMID:24453917

Ethical considerations in the prevention and management of genetic disorders with special emphasis on religious considerations.

PubMed

Albar, Mohammed A

2002-06-01

Genetic diseases include not only single gene disorders, but multifactorial, somatic cell genetic disorders, mitochondrial and even chromosomal. One in 4 adults will suffer from a multifactorial or a somatic cell genetic disease. The common diseases in the community have a hereditary component namely diabetes mellitus, hypertension, ischemic heart diseases and many types of cancer. Even monogenic diseases which affect a small number of the newborns (2%-3%), have a greater impact on childhood diseases up to age 15 years. Therefore, it is imperative to scrutinize the available methods of prevention and management of genetic disorders, their ethical implications, and since east Mediterranean region is mainly occupied by Arabs and muslims, religious considerations become of paramount importance. Islam differs from many other religions in providing a complete code of life, which encompasses the secular with spiritual, the mundane with the celestial and hence forms the basis of the ethical, moral and even juridical attitudes and laws towards any problem or situation. Islamic teachings carry a great deal of instructions for health promotion and disease prevention including hereditary and genetic disorders. This review discusses how the Islamic teachings play an important role in the prevention and management of genetic disorders and the type of ethical implications involved in such management namely premarital medical examination, the question of consanguinity, the genetic counseling, the question of preimplantation diagnosis, the question of abortion and the offering of alternative ways of reproduction.

Assessing movement quality in persons with severe mental illness - Reliability and validity of the Body Awareness Scale Movement Quality and Experience.

PubMed

Hedlund, Lena; Gyllensten, Amanda Lundvik; Waldegren, Tomas; Hansson, Lars

2016-05-01

Motor disturbances and disturbed self-recognition are common features that affect mobility in persons with schizophrenia spectrum disorder and bipolar disorder. Physiotherapists in Scandinavia assess and treat movement difficulties in persons with severe mental illness. The Body Awareness Scale Movement Quality and Experience (BAS MQ-E) is a new and shortened version of the commonly used Body Awareness Scale-Health (BAS-H). The purpose of this study was to investigate the inter-rater reliability and the concurrent validity of BAS MQ-E in persons with severe mental illness. The concurrent validity was examined by investigating the relationships between neurological soft signs, alexithymia, fatigue, anxiety, and mastery. Sixty-two persons with severe mental illness participated in the study. The results showed a satisfactory inter-rater reliability (n = 53) and a concurrent validity (n = 62) with neurological soft signs, especially cognitive and perceptual based signs. There was also a concurrent validity linked to physical fatigue and aspects of alexithymia. The scores of BAS MQ-E were in general higher for persons with schizophrenia compared to persons with other diagnoses within the schizophrenia spectrum disorders and bipolar disorder. The clinical implications are presented in the discussion.

A common variant in DRD3 receptor is associated with autism spectrum disorder.

PubMed

de Krom, Mariken; Staal, Wouter G; Ophoff, Roel A; Hendriks, Judith; Buitelaar, Jan; Franke, Barbara; de Jonge, Maretha V; Bolton, Patrick; Collier, David; Curran, Sarah; van Engeland, Herman; van Ree, Jan M

2009-04-01

The presence of specific and common genetic etiologies for autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) was investigated for 132 candidate genes in a two-stage design-association study. 1,536 single nucleotide polymorphisms (SNPs) covering these candidate genes were tested in ASD (n = 144) and ADHD (n = 110) patients and control subjects (n = 404) from The Netherlands. A second stage was performed with those SNPs from Stage I reaching a significance threshold for association of p < .01 in an independent sample of ASD patients (n = 128) and controls (n = 124) from the United Kingdom and a Dutch ADHD (n = 150) and control (n = 149) sample. No shared association was found between ASD and ADHD. However, in the first and second ASD samples and in a joint statistical analysis, a significant association between SNP rs167771 located in the DRD3 gene was found (joint analysis uncorrected: p = 3.11 x 10(-6); corrected for multiple testing and potential stratification: p = .00162). The DRD3 gene is related to stereotyped behavior, liability to side effects of antipsychotic medication, and movement disorders and may therefore have important clinical implications for ASD.

The Cerebellum and Premenstrual Dysphoric Disorder

PubMed Central

Rapkin, Andrea J.; Berman, Steven M.; London, Edythe D.

2017-01-01

The cerebellum constitutes ten percent of brain volume and contains the majority of brain neurons. Although it was historically viewed primarily as processing motoric computations, current evidence supports a more comprehensive role, where cerebro-cerebellar feedback loops also modulate various forms of cognitive and affective processing. Here we present evidence for a role of the cerebellum in premenstrual dysphoric disorder (PMDD), which is characterized by severe negative mood symptoms during the luteal phase of the menstrual cycle. Although a link between menstruation and cyclical dysphoria has long been recognized, neuroscientific investigations of this common disorder have only recently been explored. This article reviews functional and structural brain imaging studies of PMDD and the similar but less well defined condition of premenstrual syndrome (PMS). The most consistent findings are that women with premenstrual dysphoria exhibit greater relative activity than other women in the dorsolateral prefrontal cortex and posterior lobules VI and VII of the neocerebellum. Since both brain areas have been implicated in emotional processing and mood disorders, working memory and executive functions, this greater activity probably represents coactivation within a cerebro-cerebellar feedback loop regulating emotional and cognitive processing. Some of the evidence suggests that increased activity within this circuit may preserve cerebellar structure during aging, and possible mechanisms and implications of this finding are discussed. PMID:28275721

The Cerebellum and Premenstrual Dysphoric Disorder.

PubMed

Rapkin, Andrea J; Berman, Steven M; London, Edythe D

2014-01-01

The cerebellum constitutes ten percent of brain volume and contains the majority of brain neurons. Although it was historically viewed primarily as processing motoric computations, current evidence supports a more comprehensive role, where cerebro-cerebellar feedback loops also modulate various forms of cognitive and affective processing. Here we present evidence for a role of the cerebellum in premenstrual dysphoric disorder (PMDD), which is characterized by severe negative mood symptoms during the luteal phase of the menstrual cycle. Although a link between menstruation and cyclical dysphoria has long been recognized, neuroscientific investigations of this common disorder have only recently been explored. This article reviews functional and structural brain imaging studies of PMDD and the similar but less well defined condition of premenstrual syndrome (PMS). The most consistent findings are that women with premenstrual dysphoria exhibit greater relative activity than other women in the dorsolateral prefrontal cortex and posterior lobules VI and VII of the neocerebellum. Since both brain areas have been implicated in emotional processing and mood disorders, working memory and executive functions, this greater activity probably represents coactivation within a cerebro-cerebellar feedback loop regulating emotional and cognitive processing. Some of the evidence suggests that increased activity within this circuit may preserve cerebellar structure during aging, and possible mechanisms and implications of this finding are discussed.

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

PubMed Central

Celen, Cemre; Chuang, Jen-Chieh; Luo, Xin; Nijem, Nadine; Walker, Angela K; Chen, Fei; Zhang, Shuyuan; Chung, Andrew S; Nguyen, Liem H; Nassour, Ibrahim; Budhipramono, Albert; Sun, Xuxu; Bok, Levinus A; McEntagart, Meriel; Gevers, Evelien F; Birnbaum, Shari G; Eisch, Amelia J; Powell, Craig M; Ge, Woo-Ping; Santen, Gijs WE; Chahrour, Maria; Zhu, Hao

2017-01-01

Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling. DOI: http://dx.doi.org/10.7554/eLife.25730.001 PMID:28695822

Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".

PubMed

Tordjman, S; Cohen, D; Anderson, G M; Botbol, M; Canitano, R; Coulon, N; Roubertoux, P L

2018-06-01

Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2018. Published by Elsevier Ltd.

Feeding method and health outcomes of children with cerebral palsy.

PubMed

Rogers, Brian

2004-08-01

Disorders of feeding and swallowing are common in children with cerebral palsy. Feeding and swallowing disorders have significant implications for development, growth and nutrition, respiratory health, gastrointestinal function, parent-child interaction, and overall family life. Assessments need to be comprehensive in scope and centered around the medical home. Oral feeding interventions for children with cerebral palsy may be effective in promoting oral motor function, but have not been shown to be effective in promoting feeding efficiency or weight gain. Feeding gastrostomy tubes are a reasonable alternative for children with severe feeding and swallowing problems who have had poor weight gain. Copyright 2004 Elsevier Inc.

The varied clinical presentations of major depressive disorder.

PubMed

Rush, A John

2007-01-01

DSM-IV major depressive disorder (MDD) is a clinical syndrome notable for heterogeneity of its clinical presentation, genetics, neurobiology, clinical course, and treatment responsiveness. In an attempt to make sense of this heterogeneity, clinicians and researchers have proposed a number of MDD "subtypes" based on differences in characteristic symptoms (e.g., atypical, melancholic, psychotic), onset (e.g., early vs. late, post-partum, seasonal), course of illness (e.g., single vs. recurrent, chronic, double), and severity. This article provides a brief review of the status of several of the most common subtypes in terms of their clinical features, biological correlates, course of illness, and treatment implications.

Role of ghrelin in the pathophysiology of eating disorders: implications for pharmacotherapy.

PubMed

Cardona Cano, Sebastian; Merkestein, Myrte; Skibicka, Karolina P; Dickson, Suzanne L; Adan, Roger A H

2012-04-01

Ghrelin is the only known circulating orexigenic hormone. It increases food intake by interacting with hypothalamic and brainstem circuits involved in energy balance, as well as reward-related brain areas. A heightened gut-brain ghrelin axis is an emerging feature of certain eating disorders such as anorexia nervosa and Prader-Willi syndrome. In common obesity, ghrelin levels are lowered, whereas post-meal ghrelin levels remain higher than in lean individuals. Agents that interfere with ghrelin signalling have therapeutic potential for eating disorders, including obesity. However, most of these drugs are only in the preclinical phase of development. Data obtained so far suggest that ghrelin agonists may have potential in the treatment of anorexia nervosa, while ghrelin antagonists seem promising for other eating disorders such as obesity and Prader-Willi syndrome. However, large clinical trials are needed to evaluate the efficacy and safety of these drugs.

The Talking Cure of Avoidant Personality Disorder: Remission through Earned-Secure Attachment.

PubMed

Guina, Jeffrey

The concept of earned security is important and has significant implications for psychotherapy. Understanding how individuals with insecure attachment styles can develop secure attachment styles through reparative relationships, such as the therapeutic relationship, can assist psychotherapists in helping patients to overcome the effects of early negative life experiences. Personality disorders are commonly associated with negative experiences, such as abuse, neglect, and other empathic failures. These disorders are particularly difficult to treat because of their pervasive nature and the resultant defense mechanisms that often thwart psychotherapy. However, an understanding of the role that attachment can play in the etiology, symptomatology, and treatment of psychopathology can greatly enhance the therapeutic process. This case report describes the long-term psychodynamic psychotherapy of a woman with a history of childhood trauma, avoidant attachment style, and avoidant personality disorder. Through the therapeutic relationship, she developed a secure attachment, and her symptoms remitted, and her life drastically improved.

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A review for the gastroenterologist.

PubMed

Beckers, A B; Keszthelyi, D; Fikree, A; Vork, L; Masclee, A; Farmer, A D; Aziz, Q

2017-08-01

Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome. The aim of this review was to examine the nature of GI symptoms and their underlying pathophysiology in JHS/EDS-HT. In addition, we consider the clinical implications of the diagnosis and treatment of JHS/EDS-HT for practicing clinicians in gastroenterology. Observations summarized in this review may furthermore represent the first step toward the identification of a new pathophysiological basis for a substantial subgroup of patients with functional GI disorders. © 2017 John Wiley & Sons Ltd.

Personality disorder services in England: findings from a national survey

PubMed Central

Dale, Oliver; Sethi, Faisil; Stanton, Clive; Evans, Sacha; Barnicot, Kirsten; Sedgwick, Rosemary; Goldsack, Steve; Doran, Monica; Shoolbred, Lucinda; Samele, Chiara; Urquia, Norman; Haigh, Rex; Moran, Paul

2017-01-01

Aims and method We aimed to evaluate the availability and nature of services for people affected by personality disorder in England by conducting a survey of English National Health Service (NHS) mental health trusts and independent organisations. Results In England, 84% of organisations reported having at least one dedicated personality disorder service. This represents a fivefold increase compared with a 2002 survey. However, only 55% of organisations reported that patients had equal access across localities to these dedicated services. Dedicated services commonly had good levels of service use and carer involvement, and engagement in education, research and training. However, a wider multidisciplinary team and a greater number of biopsychosocial interventions were available through generic services. Clinical implications There has been a substantial increase in service provision for people affected by personality disorder, but continued variability in the availability of services is apparent and it remains unclear whether quality of care has improved. PMID:29018548

The renin-angiotensin system in thyroid disorders and its role in cardiovascular and renal manifestations.

PubMed

Vargas, Félix; Rodríguez-Gómez, Isabel; Vargas-Tendero, Pablo; Jimenez, Eugenio; Montiel, Mercedes

2012-04-01

Thyroid disorders are among the most common endocrine diseases and affect virtually all physiological systems, with an especially marked impact on cardiovascular and renal systems. This review summarizes the effects of thyroid hormones on the renin-angiotensin system (RAS) and the participation of the RAS in the cardiovascular and renal manifestations of thyroid disorders. Thyroid hormones are important regulators of cardiac and renal mass, vascular function, renal sodium handling, and consequently blood pressure (BP). The RAS acts globally to control cardiovascular and renal functions, while RAS components act systemically and locally in individual organs. Various authors have implicated the systemic and local RAS in the mediation of functional and structural changes in cardiovascular and renal tissues due to abnormal thyroid hormone levels. This review analyzes the influence of thyroid hormones on RAS components and discusses the role of the RAS in BP, cardiac mass, vascular function, and renal abnormalities in thyroid disorders.

Noonan syndrome and clinically related disorders

PubMed Central

Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

2010-01-01

Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

Cross-generational influences on childhood anxiety disorders: pathways and mechanisms

PubMed Central

Leckman, James F.; Silverman, Wendy K.; Feldman, Ruth

2016-01-01

Anxiety disorders are common across the lifespan, cause severe distress and impairment, and usually have their onset in childhood. Substantial clinical and epidemiological research has demonstrated the existence of links between anxiety and its disorders in children and parents. Research on the pathways and mechanisms underlying these links has pointed to both behavioral and biological systems. This review synthesizes and summarizes several major aspects of this research. Behavioral systems include vicarious learning, social referencing, and modeling of parental anxiety; overly protective or critical parenting styles; and aspects of parental responses to child anxiety including family accommodation of the child’s symptoms. Biological systems include aspects of the prenatal environment affected by maternal anxiety, development and functioning of the oxytocinergic system, and genetic and epigenetic transmission. Implications for the prevention and treatment of child anxiety disorders are discussed, including the potential to enhance child anxiety treatment outcomes through biologically informed parent-based interventions. PMID:27145763

Cross-generational influences on childhood anxiety disorders: pathways and mechanisms.

PubMed

Lebowitz, Eli R; Leckman, James F; Silverman, Wendy K; Feldman, Ruth

2016-09-01

Anxiety disorders are common across the lifespan, cause severe distress and impairment, and usually have their onset in childhood. Substantial clinical and epidemiological research has demonstrated the existence of links between anxiety and its disorders in children and parents. Research on the pathways and mechanisms underlying these links has pointed to both behavioral and biological systems. This review synthesizes and summarizes several major aspects of this research. Behavioral systems include vicarious learning, social referencing, and modeling of parental anxiety; overly protective or critical parenting styles; and aspects of parental responses to child anxiety including family accommodation of the child's symptoms. Biological systems include aspects of the prenatal environment affected by maternal anxiety, development and functioning of the oxytocinergic system, and genetic and epigenetic transmission. Implications for the prevention and treatment of child anxiety disorders are discussed, including the potential to enhance child anxiety treatment outcomes through biologically informed parent-based interventions.

Implications of comorbid ADHD in ASD interventions and outcome: Results from a naturalistic follow up study from south India.

PubMed

Manohar, Harshini; Kuppili, Pooja Patnaik; Kandasamy, Preeti; Chandrasekaran, Venkatesh; Rajkumar, Ravi Philip

2018-03-01

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder commonly associated with Attention Deficit Hyperactivity Disorder (ADHD), the prevalence ranging from 14-70%. The current study attempted to assess the impact of comorbid ADHD in children with ASD, in terms of challenges in diagnosis, treatment, intervention outcomes and parental stress and coping through a naturalistic design. Fifty children aged 2-6 years with ASD were recruited, assessed and followed up for six months. Twenty children were found to have comorbid ADHD. Severity of ASD and ADHD was assessed by Childhood Autism rating scale and Connor's abbreviated rating scale respectively. Parental stress and coping was assessed by Family Interview for stress and coping. The diagnosis of ASD was apparently obscured by ADHD symptoms in about 22% of cases, as only diagnosis of ADHD was made at the time of referral to our centre. ADHD was the most common comorbidity followed by intellectual disability and seizure disorder. About 66% of children received combination of pharmacological and behavioral interventions. Clonidine was the most common medication to be used and was well tolerated. The improvement in ADHD symptomatology showed positive correlation with improvement with ASD-specific interventions as reflected by change in severity scores. Severity of ADHD significantly also predicted parental stress and coping, and thereby engagement in ASD-specific interventions. The current study highlights the need for screening and early diagnosis of comorbid ADHD in children with ASD and vice versa considering the management challenges. In case of multiple comorbid neurodevelopmental disorders, early interventions for one disorder can improve the outcome of the other. Copyright © 2018 Elsevier B.V. All rights reserved.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

PubMed Central

Szatmari, Peter; Paterson, Andrew; Zwaigenbaum, Lonnie; Roberts, Wendy; Brian, Jessica; Liu, Xiao-Qing; Vincent, John; Skaug, Jennifer; Thompson, Ann; Senman, Lili; Feuk, Lars; Qian, Cheng; Bryson, Susan; Jones, Marshall; Marshall, Christian; Scherer, Stephen; Vieland, Veronica; Bartlett, Christopher; Mangin, La Vonne; Goedken, Rhinda; Segre, Alberto; Pericak-Vance, Margaret; Cuccaro, Michael; Gilbert, John; Wright, Harry; Abramson, Ruth; Betancur, Catalina; Bourgeron, Thomas; Gillberg, Christopher; Leboyer, Marion; Buxbaum, Joseph; Davis, Kenneth; Hollander, Eric; Silverman, Jeremy; Hallmayer, Joachim; Lotspeich, Linda; Sutcliffe, James; Haines, Jonathan; Folstein, Susan; Piven, Joseph; Wassink, Thomas; Sheffield, Val; Geschwind, Daniel; Bucan, Maja; Brown, Ted; Cantor, Rita; Constantino, John; Gilliam, Conrad; Herbert, Martha; Lajonchere, Clara; Ledbetter, David; Lese-Martin, Christa; Miller, Janet; Nelson, Stan; Samango-Sprouse, Carol; Spence, Sarah; State, Matthew; Tanzi, Rudolph; Coon, Hilary; Dawson, Geraldine; Devlin, Bernie; Estes, Annette; Flodman, Pamela; Klei, Lambertus; Mcmahon, William; Minshew, Nancy; Munson, Jeff; Korvatska, Elena; Rodier, Patricia; Schellenberg, Gerard; Smith, Moyra; Spence, Anne; Stodgell, Chris; Tepper, Ping Guo; Wijsman, Ellen; Yu, Chang-En; Rogé, Bernadette; Mantoulan, Carine; Wittemeyer, Kerstin; Poustka, Annemarie; Felder, Bärbel; Klauck, Sabine; Schuster, Claudia; Poustka, Fritz; Bölte, Sven; Feineis-Matthews, Sabine; Herbrecht, Evelyn; Schmötzer, Gabi; Tsiantis, John; Papanikolaou, Katerina; Maestrini, Elena; Bacchelli, Elena; Blasi, Francesca; Carone, Simona; Toma, Claudio; Van Engeland, Herman; De Jonge, Maretha; Kemner, Chantal; Koop, Frederieke; Langemeijer, Marjolein; Hijmans, Channa; Staal, Wouter; Baird, Gillian; Bolton, Patrick; Rutter, Michael; Weisblatt, Emma; Green, Jonathan; Aldred, Catherine; Wilkinson, Julie-Anne; Pickles, Andrew; Le Couteur, Ann; Berney, Tom; Mcconachie, Helen; Bailey, Anthony; Francis, Kostas; Honeyman, Gemma; Hutchinson, Aislinn; Parr, Jeremy; Wallace, Simon; Monaco, Anthony; Barnby, Gabrielle; Kobayashi, Kazuhiro; Lamb, Janine; Sousa, Ines; Sykes, Nuala; Cook, Edwin; Guter, Stephen; Leventhal, Bennett; Salt, Jeff; Lord, Catherine; Corsello, Christina; Hus, Vanessa; Weeks, Daniel; Volkmar, Fred; Tauber, Maïté; Fombonne, Eric; Shih, Andy; Meyer, Kacie

2007-01-01

Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with ≥ 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. PMID:17322880

A Place for Sexual Dysfunctions in an Empirical Taxonomy of Psychopathology

PubMed Central

Forbes, Miriam K.; Baillie, Andrew J.; Eaton, Nicholas R.; Krueger, Robert F.

2017-01-01

Sexual dysfunctions commonly co-occur with various depressive and anxiety disorders. An emerging framework for understanding the classification of mental disorders suggests that such comorbidity is a manifestation of underlying dimensions of psychopathology (or “spectra”). In this review, we synthesize the evidence that sexual dysfunctions should be included in the empirical taxonomy of psychopathology as part of the internalizing spectrum, which accounts for comorbidity among the depressive and anxiety disorders. The review has four parts. Part 1 summarizes the empirical basis and utility of the empirical taxonomy of psychopathology. Part 2 reviews the prima facie evidence for the hypothesis that sexual dysfunctions are part of the internalizing spectrum (i.e., high rates of comorbidity; shared cognitive, affective, and temperament characteristics; common neural substrates and biomarkers; shared course and treatment response; and the lack of causal relationships between them). Part 3 critically analyzes and integrates the results of the eight studies that have addressed this hypothesis. Finally, Part 4 examines the implications of reconceptualizing sexual dysfunctions as part of the internalizing spectrum, and explores avenues for future research. PMID:28121167

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

PubMed

Ripke, Stephan; O'Dushlaine, Colm; Chambert, Kimberly; Moran, Jennifer L; Kähler, Anna K; Akterin, Susanne; Bergen, Sarah E; Collins, Ann L; Crowley, James J; Fromer, Menachem; Kim, Yunjung; Lee, Sang Hong; Magnusson, Patrik K E; Sanchez, Nick; Stahl, Eli A; Williams, Stephanie; Wray, Naomi R; Xia, Kai; Bettella, Francesco; Borglum, Anders D; Bulik-Sullivan, Brendan K; Cormican, Paul; Craddock, Nick; de Leeuw, Christiaan; Durmishi, Naser; Gill, Michael; Golimbet, Vera; Hamshere, Marian L; Holmans, Peter; Hougaard, David M; Kendler, Kenneth S; Lin, Kuang; Morris, Derek W; Mors, Ole; Mortensen, Preben B; Neale, Benjamin M; O'Neill, Francis A; Owen, Michael J; Milovancevic, Milica Pejovic; Posthuma, Danielle; Powell, John; Richards, Alexander L; Riley, Brien P; Ruderfer, Douglas; Rujescu, Dan; Sigurdsson, Engilbert; Silagadze, Teimuraz; Smit, August B; Stefansson, Hreinn; Steinberg, Stacy; Suvisaari, Jaana; Tosato, Sarah; Verhage, Matthijs; Walters, James T; Levinson, Douglas F; Gejman, Pablo V; Kendler, Kenneth S; Laurent, Claudine; Mowry, Bryan J; O'Donovan, Michael C; Owen, Michael J; Pulver, Ann E; Riley, Brien P; Schwab, Sibylle G; Wildenauer, Dieter B; Dudbridge, Frank; Holmans, Peter; Shi, Jianxin; Albus, Margot; Alexander, Madeline; Campion, Dominique; Cohen, David; Dikeos, Dimitris; Duan, Jubao; Eichhammer, Peter; Godard, Stephanie; Hansen, Mark; Lerer, F Bernard; Liang, Kung-Yee; Maier, Wolfgang; Mallet, Jacques; Nertney, Deborah A; Nestadt, Gerald; Norton, Nadine; O'Neill, Francis A; Papadimitriou, George N; Ribble, Robert; Sanders, Alan R; Silverman, Jeremy M; Walsh, Dermot; Williams, Nigel M; Wormley, Brandon; Arranz, Maria J; Bakker, Steven; Bender, Stephan; Bramon, Elvira; Collier, David; Crespo-Facorro, Benedicto; Hall, Jeremy; Iyegbe, Conrad; Jablensky, Assen; Kahn, Rene S; Kalaydjieva, Luba; Lawrie, Stephen; Lewis, Cathryn M; Lin, Kuang; Linszen, Don H; Mata, Ignacio; McIntosh, Andrew; Murray, Robin M; Ophoff, Roel A; Powell, John; Rujescu, Dan; Van Os, Jim; Walshe, Muriel; Weisbrod, Matthias; Wiersma, Durk; Donnelly, Peter; Barroso, Ines; Blackwell, Jenefer M; Bramon, Elvira; Brown, Matthew A; Casas, Juan P; Corvin, Aiden P; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S; Mathew, Christopher G; Palmer, Colin N A; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J; Trembath, Richard C; Viswanathan, Ananth C; Wood, Nicholas W; Spencer, Chris C A; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard D; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T; Liddle, Jennifer; Potter, Simon C; Ravindrarajah, Radhi; Ricketts, Michelle; Tashakkori-Ghanbaria, Avazeh; Waller, Matthew J; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Deloukas, Panos; Mathew, Christopher G; Blackwell, Jenefer M; Brown, Matthew A; Corvin, Aiden P; McCarthy, Mark I; Spencer, Chris C A; Bramon, Elvira; Corvin, Aiden P; O'Donovan, Michael C; Stefansson, Kari; Scolnick, Edward; Purcell, Shaun; McCarroll, Steven A; Sklar, Pamela; Hultman, Christina M; Sullivan, Patrick F

2013-10-01

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.

A Place for Sexual Dysfunctions in an Empirical Taxonomy of Psychopathology.

PubMed

Forbes, Miriam K; Baillie, Andrew J; Eaton, Nicholas R; Krueger, Robert F

Sexual dysfunctions commonly co-occur with various depressive and anxiety disorders. An emerging framework for understanding the classification of mental disorders suggests that such comorbidity is a manifestation of underlying dimensions of psychopathology (or "spectra"). In this review, we synthesize the evidence that sexual dysfunctions should be included in the empirical taxonomy of psychopathology as part of the internalizing spectrum, which accounts for comorbidity among the depressive and anxiety disorders. The review has four parts. Part 1 summarizes the empirical basis and utility of the empirical taxonomy of psychopathology. Part 2 reviews the prima facie evidence for the hypothesis that sexual dysfunctions are part of the internalizing spectrum (i.e., high rates of comorbidity; shared cognitive, affective, and temperament characteristics; common neural substrates and biomarkers; shared course and treatment response; and the lack of causal relationships between them). Part 3 critically analyzes and integrates the results of the eight studies that have addressed this hypothesis. Finally, Part 4 examines the implications of reconceptualizing sexual dysfunctions as part of the internalizing spectrum, and explores avenues for future research.

Genome-wide association study of suicide attempts in mood disorder patients.

PubMed

Perlis, Roy H; Huang, Jie; Purcell, Shaun; Fava, Maurizio; Rush, A John; Sullivan, Patrick F; Hamilton, Steven P; McMahon, Francis J; Schulze, Thomas G; Schulze, Thomas; Potash, James B; Zandi, Peter P; Willour, Virginia L; Penninx, Brenda W; Boomsma, Dorret I; Vogelzangs, Nicole; Middeldorp, Christel M; Rietschel, Marcella; Nöthen, Markus; Cichon, Sven; Gurling, Hugh; Bass, Nick; McQuillin, Andrew; Hamshere, Marian; Craddock, Nick; Sklar, Pamela; Smoller, Jordan W

2010-12-01

Family and twin studies suggest that liability for suicide attempts is heritable and distinct from mood disorder susceptibility. The authors therefore examined the association between common genomewide variation and lifetime suicide attempts. The authors analyzed data on lifetime suicide attempts from genomewide association studies of bipolar I and II disorder as well as major depressive disorder. Bipolar disorder subjects were drawn from the Systematic Treatment Enhancement Program for Bipolar Disorder cohort, the Wellcome Trust Case Control Consortium bipolar cohort, and the University College London cohort. Replication was pursued in the NIMH Genetic Association Information Network bipolar disorder project and a German clinical cohort. Depression subjects were drawn from the Sequential Treatment Alternatives to Relieve Depression cohort, with replication in the Netherlands Study of Depression and Anxiety/Netherlands Twin Register depression cohort. Strongest evidence of association for suicide attempt in bipolar disorder was observed in a region without identified genes (rs1466846); five loci also showed suggestive evidence of association. In major depression, strongest evidence of association was observed for a single nucleotide polymorphism in ABI3BP, with six loci also showing suggestive association. Replication cohorts did not provide further support for these loci. However, meta-analysis incorporating approximately 8,700 mood disorder subjects identified four additional regions that met the threshold for suggestive association, including the locus containing the gene coding for protein kinase C-epsilon, previously implicated in models of mood and anxiety. The results suggest that inherited risk for suicide among mood disorder patients is unlikely to be the result of individual common variants of large effect. They nonetheless provide suggestive evidence for multiple loci, which merit further investigation.

Genome-Wide Association Study of Suicide Attempts in Mood Disorder Patients

PubMed Central

Perlis, Roy H.; Huang, Jie; Purcell, Shaun; Fava, Maurizio; Rush, A. John; Sullivan, Patrick F.; Hamilton, Steven P.; McMahon, Francis J.; Schulze, Thomas; Potash, James B.; Zandi, Peter P.; Willour, Virginia L.; Penninx, Brenda W.; Boomsma, Dorret I.; Vogelzangs, Nicole; Middeldorp, Christel M.; Rietschel, Marcella; Nöthen, Markus; Cichon, Sven; Gurling, Hugh; Bass, Nick; McQuillin, Andrew; Hamshere, Marian; Craddock, Nick; Sklar, Pamela; Smoller, Jordan W.

2013-01-01

Objective Family and twin studies suggest that liability for suicide attempts is heritable and distinct from mood disorder susceptibility. The authors therefore examined the association between common genomewide variation and lifetime suicide attempts. Method The authors analyzed data on lifetime suicide attempts from genomewide association studies of bipolar I and II disorder as well as major depressive disorder. Bipolar disorder subjects were drawn from the Systematic Treatment Enhancement Program for Bipolar Disorder cohort, the Wellcome Trust Case Control Consortium bipolar cohort, and the University College London cohort. Replication was pursued in the NIMH Genetic Association Information Network bipolar disorder project and a German clinical cohort. Depression subjects were drawn from the Sequential Treatment Alternatives to Relieve Depression cohort, with replication in the Netherlands Study of Depression and Anxiety/Netherlands Twin Register depression cohort. Results Strongest evidence of association for suicide attempt in bipolar disorder was observed in a region without identified genes (rs1466846); five loci also showed suggestive evidence of association. In major depression, strongest evidence of association was observed for a single nucleotide polymorphism in ABI3BP, with six loci also showing suggestive association. Replication cohorts did not provide further support for these loci. However, meta-analysis incorporating approximately 8,700 mood disorder subjects identified four additional regions that met the threshold for suggestive association, including the locus containing the gene coding for protein kinase C-epsilon, previously implicated in models of mood and anxiety. Conclusions The results suggest that inherited risk for suicide among mood disorder patients is unlikely to be the result of individual common variants of large effect. They nonetheless provide suggestive evidence for multiple loci, which merit further investigation. PMID:21041247

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

PubMed Central

Mullegama, Sureni V.; Alaimo, Joseph T.; Chen, Li; Elsea, Sarah H.

2015-01-01

Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is a recently identified genetic neurodevelopmental disorder associated with ASD. Mutations in MBD5 have been found in ASD cohorts. In this study, we provide a phenotypic update on the prevalent features of 2q23.1 deletion syndrome, which include severe intellectual disability, seizures, significant speech impairment, sleep disturbance, and autistic-like behavioral problems. Next, we examined the phenotypic, molecular, and network/pathway relationships between nine neurodevelopmental disorders associated with ASD: 2q23.1 deletion Rett, Angelman, Pitt-Hopkins, 2q23.1 duplication, 5q14.3 deletion, Kleefstra, Kabuki make-up, and Smith-Magenis syndromes. We show phenotypic overlaps consisting of intellectual disability, speech delay, seizures, sleep disturbance, hypotonia, and autistic-like behaviors. Molecularly, MBD5 possibly regulates the expression of UBE3A, TCF4, MEF2C, EHMT1 and RAI1. Network analysis reveals that there could be indirect protein interactions, further implicating function for these genes in common pathways. Further, we show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. These findings support further investigations into the molecular and pathway relationships among genes linked to neurodevelopmental disorders and ASD, which will hopefully lead to common points of regulation that may be targeted toward therapeutic intervention. PMID:25853262

Effects of Child Characteristics on the Autism Diagnostic Interview-Revised: Implications for Use of Scores as a Measure of ASD Severity

ERIC Educational Resources Information Center

Hus, Vanessa; Lord, Catherine

2013-01-01

The Autism Diagnostic Interview-Revised (ADI-R) is commonly used to inform diagnoses of autism spectrum disorders (ASD). Considering the time dedicated to using the ADI-R, it is of interest to expand the ways in which information obtained from this interview is used. The current study examines how algorithm totals reflecting past (ADI-Diagnostic)…

Psoriasis and Cardiovascular Comorbidities: Focusing on Severe Vascular Events, Cardiovascular Risk Factors and Implications for Treatment

PubMed Central

Hu, Stephen Chu-Sung; Lan, Cheng-Che E.

2017-01-01

Psoriasis is a common and chronic inflammatory disease of the skin. It may impair the physical and psychosocial function of patients and lead to decreased quality of life. Traditionally, psoriasis has been regarded as a disease affecting only the skin and joints. More recently, studies have shown that psoriasis is a systemic inflammatory disorder which can be associated with various comorbidities. In particular, psoriasis is associated with an increased risk of developing severe vascular events such as myocardial infarction and stroke. In addition, the prevalence rates of cardiovascular risk factors are increased, including hypertension, diabetes mellitus, dyslipidemia, obesity, and metabolic syndrome. Consequently, mortality rates have been found to be increased and life expectancy decreased in patients with psoriasis, as compared to the general population. Various studies have also shown that systemic treatments for psoriasis, including methotrexate and tumor necrosis factor-α inhibitors, may significantly decrease cardiovascular risk. Mechanistically, the presence of common inflammatory pathways, secretion of adipokines, insulin resistance, angiogenesis, oxidative stress, microparticles, and hypercoagulability may explain the association between psoriasis and cardiometabolic disorders. In this article, we review the evidence regarding the association between psoriasis and cardiovascular comorbidities, focusing on severe vascular events, cardiovascular risk factors and implications for treatment. PMID:29065479

Obsessive-compulsive disorder: an overview.

PubMed

Simpson, H B; Fallon, B A

2000-01-01

In this article, which is the first in a three-part series, the authors provide an overview of the current state of our knowledge of the phenomenology, etiology, and diagnosis of OCD. The DSM-IV criteria for OCD are presented and explicated. Disorders that are commonly comorbid with OCD (e.g., major depressive disorder, other anxiety dis-orders, Tourette's disorder) are described. The authors also discuss disorders such as body dysmorphic disorder that may be related to OCD and are often termed OCD spectrum disorders. OCD is likely to have multiple causes and the authors discuss behavioral, neuroanatomical, and neurochemical theories of OCD. Two treatments have demonstrated efficacy in OCD, cognitive-behavioral therapy and pharmacotherapy with serotonergic reuptake inhibitors, and the authors discuss how these treatments may work in light of what is known about the etiology of the disorder. The different subtypes of OCD that have been proposed are described along with their implications for treatment. The article concludes with a discussion of diagnosis that provides specific guidance for the clinician on how to assess a patient for possible OCD. The next two articles in this series will cover cognitive-behavioral and medication treatment in detail.

Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

PubMed

Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen

2010-02-01

With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.

[Role of Serotonin Transporter Gene in Eating Disorders].

PubMed

Hernández-Muñoz, Sandra; Camarena-Medellin, Beatriz

2014-01-01

The serotoninergic system has been implicated in mood and appetite regulation, and the serotonin transporter gene (SLC6A4) is a commonly studied candidate gene for eating disorders. However, most studies have focused on a single polymorphism (5-HTTLPR) in SLC6A4. We present the studies published on the association between eating disorders (ED) and 5-HTTLPR polymorphism in anorexia nervosa (AN), bulimia nervosa (BN), and eating disorders not otherwise specified (EDNOS). Search of databases: MEDLINE, ISI, and PubMed for SLC6A4 and ED. From a review of 37 original articles, it was suggested that carriers of S allele is a risk factor for eating disorders, especially for AN. However, BN did not show any association. Also, BMI, impulsivity, anxiety, depression, and age of onset have been associated with S allele in ED patients. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Rethinking emotion: cognitive reappraisal is an effective positive and negative emotion regulation strategy in bipolar disorder.

PubMed

Gruber, June; Hay, Aleena C; Gross, James J

2014-04-01

Bipolar disorder involves difficulties with emotion regulation, yet the precise nature of these emotion regulatory difficulties is unclear. The current study examined whether individuals with remitted bipolar I disorder (n = 23) and healthy controls (n = 23) differ in their ability to use one effective and common form of emotion regulation, cognitive reappraisal. Positive, negative, and neutral films were used to elicit emotion, and participants were cued to watch the film carefully (i.e., uninstructed condition) or reappraise while measures of affect, behavior, and psychophysiology were obtained. Results showed that reappraisal was associated with reductions in emotion reactivity across subjective (i.e., positive and negative affect), behavioral (i.e., positive facial displays), and physiological (i.e., skin conductance) response domains across all participants. Results suggest that reappraisal may be an effective regulation strategy for both negative and positive emotion across both healthy adults and individuals with bipolar disorder. Discussion focuses on clinical and treatment implications for bipolar disorder.

Caffeine Use Disorder: A Review of the Evidence and Future Implications.

PubMed

Addicott, Merideth A

2014-09-01

The latest edition of the Diagnostic and Statistical Manual (DSM-5) has introduced new provisions for caffeine-related disorders. Caffeine Withdrawal is now an officially recognized diagnosis, and criteria for caffeine use disorder have been proposed for additional study. caffeine use disorder is intended to be characterized by cognitive, behavioral, and physiological symptoms indicative of caffeine use despite significant caffeine-related problems, similar to other Substance Use Disorders. However, since nonproblematic caffeine use is so common and widespread, it may be difficult for some health professionals to accept that caffeine use can result in the same types of pathological behaviors caused by alcohol, cocaine, opiates, or other drugs of abuse. Yet there is evidence that some individuals are psychologically and physiologically dependent on caffeine, although the prevalence and severity of these problems is unknown. This article reviews the recent changes to the DSM, the concerns regarding these changes, and some potential impacts these changes could have on caffeine consumers.

Cannabidiol: a promising drug for neurodegenerative disorders?

PubMed

Iuvone, Teresa; Esposito, Giuseppe; De Filippis, Daniele; Scuderi, Caterina; Steardo, Luca

2009-01-01

Neurodegenerative diseases represent, nowadays, one of the main causes of death in the industrialized country. They are characterized by a loss of neurons in particular regions of the nervous system. It is believed that this nerve cell loss underlies the subsequent decline in cognitive and motor function that patients experience in these diseases. A range of mutant genes and environmental toxins have been implicated in the cause of neurodegenerative disorders but the mechanism remains largely unknown. At present, inflammation, a common denominator among the diverse list of neurodegenerative diseases, has been implicated as a critical mechanism that is responsible for the progressive nature of neurodegeneration. Since, at present, there are few therapies for the wide range of neurodegenerative diseases, scientists are still in search of new therapeutic approaches to the problem. An early contribution of neuroprotective and antiinflammatory strategies for these disorders seems particularly desirable because isolated treatments cannot be effective. In this contest, marijuana derivatives have attracted special interest, although these compounds have always raised several practical and ethical problems for their potential abuse. Nevertheless, among Cannabis compounds, cannabidiol (CBD), which lacks any unwanted psychotropic effect, may represent a very promising agent with the highest prospect for therapeutic use.

Does the concept of borderline personality features have clinical utility in childhood?

PubMed

Hawes, David J

2014-01-01

Phenotypic features of borderline personality disorder may first emerge during childhood, alongside symptoms of common externalizing and internalizing disorders. Children with these borderline personality features (BPF) are, therefore, likely to come into contact with clinical services prior to adolescence. This raises the question of whether BPF may be clinically informative with respect to the formulation and treatment of childhood psychopathology. BPF in late childhood appear to be highly heritable, while also predicted by environmental risk factors that overlap with those related to both externalizing and internalizing disorders. These risk factors include hostile parenting, maternal insensitivity to infant attachment cues, and early peer victimization, thereby implicating both family and peer processes that play out across early development. Children with BPF appear to be further characterized by social-cognitive factors including social perspective coordination deficits, a shame-prone self-concept, and hypermentalizing, which may represent potential therapeutic targets. Clinical research into the implications of BPF for the treatment of childhood psychopathology is a current priority. It is proposed that the research designs that have contributed to recent evidence for the clinical utility of childhood psychopathic traits may likewise aid in understanding the potential clinical utility of BPF in children.

Intelligence involves risk-awareness and intellectual disability involves risk-unawareness: implications of a theory of common sense.

PubMed

Greenspan, Stephen; Switzky, Harvey N; Woods, George W

2011-12-01

Survival in the everyday world (in both social and practical functioning) depends on one's ability to recognise and avoid going down the worst possible path, especially when doing so places one at risk of death, injury, or social disaster. Most people possess "common sense" (the ability to recognise obvious risk) but some people lack that ability and thus are at high risk of engaging in "foolish" (i.e., risk-unaware) action. People who have a cognitive impairment are much less able to recognise and avoid risk, and this is what causes them to be seen as needing protection and support. In this paper, we argue that the answer to the question "What is intellectual disability (ID)?" is more likely to come from the question "What is unintelligent behavior?" than "What is intelligence?" The answer which comes from such a question is that "ID is a common sense deficit disorder characterised by unawareness of obvious social and practical risk." Several implications of this answer are explored for the field of intellectual disability. These implications are explored primarily for adults who may have ID, given that the inspiration for this paper came from the way existing ID definitions are applied or misapplied in the US adult criminal justice system.

Assessing the effects of common variation in the FOXP2 gene on human brain structure.

PubMed

Hoogman, Martine; Guadalupe, Tulio; Zwiers, Marcel P; Klarenbeek, Patricia; Francks, Clyde; Fisher, Simon E

2014-01-01

The FOXP2 transcription factor is one of the most well-known genes to have been implicated in developmental speech and language disorders. Rare mutations disrupting the function of this gene have been described in different families and cases. In a large three-generation family carrying a missense mutation, neuroimaging studies revealed significant effects on brain structure and function, most notably in the inferior frontal gyrus, caudate nucleus, and cerebellum. After the identification of rare disruptive FOXP2 variants impacting on brain structure, several reports proposed that common variants at this locus may also have detectable effects on the brain, extending beyond disorder into normal phenotypic variation. These neuroimaging genetics studies used groups of between 14 and 96 participants. The current study assessed effects of common FOXP2 variants on neuroanatomy using voxel-based morphometry (VBM) and volumetric techniques in a sample of >1300 people from the general population. In a first targeted stage we analyzed single nucleotide polymorphisms (SNPs) claimed to have effects in prior smaller studies (rs2253478, rs12533005, rs2396753, rs6980093, rs7784315, rs17137124, rs10230558, rs7782412, rs1456031), beginning with regions proposed in the relevant papers, then assessing impact across the entire brain. In the second gene-wide stage, we tested all common FOXP2 variation, focusing on volumetry of those regions most strongly implicated from analyses of rare disruptive mutations. Despite using a sample that is more than 10 times that used for prior studies of common FOXP2 variation, we found no evidence for effects of SNPs on variability in neuroanatomy in the general population. Thus, the impact of this gene on brain structure may be largely limited to extreme cases of rare disruptive alleles. Alternatively, effects of common variants at this gene exist but are too subtle to be detected with standard volumetric techniques.

Systematic review: exercise-induced gastrointestinal syndrome-implications for health and intestinal disease.

PubMed

Costa, R J S; Snipe, R M J; Kitic, C M; Gibson, P R

2017-08-01

"Exercise-induced gastrointestinal syndrome" refers to disturbances of gastrointestinal integrity and function that are common features of strenuous exercise. To systematically review the literature to establish the impact of acute exercise on markers of gastrointestinal integrity and function in healthy populations and those with chronic gastrointestinal conditions. Search literature using five databases (PubMed, EBSCO, Web of Science, SPORTSdiscus, and Ovid Medline) to review publications that focused on the impact of acute exercise on markers of gastrointestinal injury, permeability, endotoxaemia, motility and malabsorption in healthy populations and populations with gastrointestinal diseases/disorders. As exercise intensity and duration increases, there is considerable evidence for increases in indices of intestinal injury, permeability and endotoxaemia, together with impairment of gastric emptying, slowing of small intestinal transit and malabsorption. The addition of heat stress and running mode appears to exacerbate these markers of gastrointestinal disturbance. Exercise stress of ≥2 hours at 60% VO 2max appears to be the threshold whereby significant gastrointestinal perturbations manifest, irrespective of fitness status. Gastrointestinal symptoms, referable to upper- and lower-gastrointestinal tract, are common and a limiting factor in prolonged strenuous exercise. While there is evidence for health benefits of moderate exercise in patients with inflammatory bowel disease or functional gastrointestinal disorders, the safety of more strenuous exercise has not been established. Strenuous exercise has a major reversible impact on gastrointestinal integrity and function of healthy populations. The safety and health implications of prolonged strenuous exercise in patients with chronic gastrointestinal diseases/disorders, while hypothetically worrying, has not been elucidated and requires further investigation. © 2017 John Wiley & Sons Ltd.

Mood disorders and Gilles de la Tourette's syndrome: An update on prevalence, etiology, comorbidity, clinical associations, and implications.

PubMed

Robertson, Mary May

2006-09-01

Gilles de la Tourette's syndrome (GTS) consists of multiple motor tics and one or more phonic tics. Psychopathology occurs in approximately 90% of GTS patients, with attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being common. Depression is common, with a lifetime risk of 10% and a prevalence of between 1.8% and 8.9%. Depression and depressive symptoms are found to occur in 13% and 76% of GTS patients attending specialist clinics, respectively. In controlled studies embracing over 700 GTS patients, the patients were significantly more depressed than controls in all but one instance. In community and epidemiological studies, depression in GTS individuals was evident in two of five investigations. Clinical correlates of depression in people with GTS appear to be: tic severity and duration, the presence of echophenomena and coprophenomena, premonitory sensations, sleep disturbances, obsessive-compulsive behaviors/OCD, self-injurious behaviors, aggression, conduct disorder (CD) in childhood, and, possibly, ADHD. Depression in people with GTS has been shown to result in a lower quality of life, potentially leading to hospitalization and suicide. The etiology of depression appears to be multifactorial. Bipolar affective disorder (BAD) and GTS may be related in some individuals. However, it is noted that sample sizes in most of these studies were small, and it is unclear at the present time as to why BAD may be overrepresented among GTS patients.

Common Functional Gastroenterologic Disorders Associated With Abdominal Pain

PubMed Central

Bharucha, Adil E.; Chakraborty, Subhankar; Sletten, Christopher D.

2016-01-01

Although abdominal pain is a symptom of several structural gastrointestinal disorders (eg, peptic ulcer disease), this comprehensive review will focus on the 4 most common nonstructural, or functional, disorders associated with abdominal pain: functional dyspepsia, constipation-predominant and diarrhea-predominant irritable bowel syndrome, and functional abdominal pain syndrome. Together, these conditions affect approximately 1 in 4 people in the United States. They are associated with comorbid conditions (eg, fibromyalgia, depression), impaired quality of life, and increased health care utilization. Symptoms are explained by disordered gastrointestinal motility and sensation, which are implicated in a variety of peripheral (eg, postinfectious inflammation, luminal irritants) and/or central (eg, stress and anxiety) factors. These disorders are defined and can generally be diagnosed by symptoms alone. Often prompted by alarm features, selected testing is useful to exclude structural disease. Identifying the specific diagnosis (eg, differentiating between functional abdominal pain and irritable bowel syndrome) and establishing an effective patient-physician relationship are the cornerstones of therapy. Many patients with mild symptoms can be effectively managed with limited tests, sensible dietary modifications, and over-the-counter medications tailored to symptoms. If these measures are not sufficient, pharmacotherapy should be considered for bowel symptoms (constipation or diarrhea) and/or abdominal pain; opioids should not be used. Behavioral and psychological approaches (eg, cognitive behavioral therapy) can be very helpful, particularly in patients with chronic abdominal pain who require a multidisciplinary pain management program without opioids. PMID:27492916

Psychiatric disorders and their correlates among young adult MDMA users in Ohio.

PubMed

Falck, Russel S; Carlson, Robert G; Wang, Jichuan; Siegal, Harvey A

2006-03-01

This study describes the lifetime prevalence, correlates, and age of onset of selected psychiatric disorders among a community sample of MDMA users (n = 402), aged 18 to 30, in Ohio. Participants responded to interviewer-administered questionnaires, including sections of the computerized Diagnostic Interview Schedule for DSM-IV. Fifty-five percent of the sample had at least one lifetime disorder, with major depression (35.3%) and antisocial personality disorder (ASPD) (25.4%) the most common. Proportionately more women were diagnosed with depression, generalized anxiety disorder, and posttraumatic stress disorder (PTSD), while proportionately more men were diagnosed with ASPD. Proportionately more non-White participants had attention deficit/hyperactivity disorder (AD/HD). Higher levels of education were associated with proportionately less PTSD, ASPD, and AD/HD. Higher frequencies of MDMA use were associated with proportionately more ASPD and AD/HD. Comparing the age of first MDMA use with the age of onset for selected psychiatric disorders revealed that for most participants disorders preceded use. Multivariate analysis revealed participants with more than a high school education were less likely to have experienced a lifetime disorder, while those who had used MDMA more than 50 times were more likely. Variations in the prevalence of psychiatric disorders have practical implications for drug abuse prevention and treatment programs.

Reduced mu suppression and altered motor resonance in euthymic bipolar disorder: Evidence for a dysfunctional mirror system?

PubMed

Andrews, Sophie C; Enticott, Peter G; Hoy, Kate E; Thomson, Richard H; Fitzgerald, Paul B

2016-01-01

Social cognitive difficulties are common in the acute phase of bipolar disorder and, to a lesser extent, during the euthymic stage, and imaging studies of social cognition in euthymic bipolar disorder have implicated mirror system brain regions. This study aimed to use a novel multimodal approach (i.e., including both transcranial magnetic stimulation (TMS) and electroencephalogram (EEG)) to investigate mirror systems in bipolar disorder. Fifteen individuals with euthymic bipolar disorder and 16 healthy controls participated in this study. Single-pulse TMS was applied to the optimal site in the primary motor cortex (M1), which stimulates the muscle of interest during the observation of hand movements (goal-directed or interacting) designed to elicit mirror system activity. Single EEG electrodes (C3, CZ, C4) recorded mu rhythm modulation concurrently. Results revealed that the patient group showed significantly less mu suppression compared to healthy controls. Surprisingly, motor resonance was not significantly different overall between groups; however, bipolar disorder participants showed a pattern of reduced reactivity on some conditions. Although preliminary, this study indicates a potential mirror system deficit in euthymic bipolar disorder, which may contribute to the pathophysiology of the disorder.

The Australian Defence Force Mental Health Prevalence and Wellbeing Study: design and methods.

PubMed

Hooff, Miranda Van; McFarlane, Alexander C; Davies, Christopher E; Searle, Amelia K; Fairweather-Schmidt, A Kate; Verhagen, Alan; Benassi, Helen; Hodson, Stephanie E

2014-01-01

The Australian Defence Force (ADF) Mental Health Prevalence and Wellbeing Study (MHPWS) is the first study of mental disorder prevalence in an entire military population. The MHPWS aims to establish mental disorder prevalence, refine current ADF mental health screening methods, and identify specific occupational factors that influence mental health. This paper describes the design, sampling strategies, and methodology used in this study. At Phase 1, approximately half of all regular Navy, Army, and Air Force personnel (n=24,481) completed self-report questionnaires. At Phase 2, a stratified sub-sample (n=1,798) completed a structured diagnostic interview to detect mental disorder. Based on data from non-responders, data were weighted to represent the entire ADF population (n=50,049). One in five ADF members met criteria for a 12-month mental disorder (22%). The most common disorder category was anxiety disorders (14.8%), followed by affective (9.5%) and alcohol disorders (5.2%). At risk ADF sub-groups were Army personnel, and those in the lower ranks. Deployment status did not have an impact on mental disorder rates. This study has important implications for mental health service delivery for Australian and international military personnel as well as contemporary veterans.

ADHD and the externalizing spectrum: direct comparison of categorical, continuous, and hybrid models of liability in a nationally representative sample.

PubMed

Carragher, Natacha; Krueger, Robert F; Eaton, Nicholas R; Markon, Kristian E; Keyes, Katherine M; Blanco, Carlos; Saha, Tulshi D; Hasin, Deborah S

2014-08-01

Alcohol use disorders, substance use disorders, and antisocial personality disorder share a common externalizing liability, which may also include attention-deficit hyperactivity disorder (ADHD). However, few studies have compared formal quantitative models of externalizing liability, with the aim of delineating the categorical and/or continuous nature of this liability in the community. This study compares categorical, continuous, and hybrid models of externalizing liability. Data were derived from the 2004-2005 National Epidemiologic Survey on Alcohol and Related Conditions (N = 34,653). Seven disorders were modeled: childhood ADHD and lifetime diagnoses of antisocial personality disorder (ASPD), nicotine dependence, alcohol dependence, marijuana dependence, cocaine dependence, and other substance dependence. The continuous latent trait model provided the best fit to the data. Measurement invariance analyses supported the fit of the model across genders, with females displaying a significantly lower probability of experiencing externalizing disorders. Cocaine dependence, marijuana dependence, other substance dependence, alcohol dependence, ASPD, nicotine dependence, and ADHD provided the greatest information, respectively, about the underlying externalizing continuum. Liability to externalizing disorders is continuous and dimensional in severity. The findings have important implications for the organizational structure of externalizing psychopathology in psychiatric nomenclatures.

The Joint Structure of DSM–IV Axis I and Axis II Disorders

PubMed Central

Røysamb, Espen; Tambs, Kristian; Ørstavik, Ragnhild E.; Torgersen, Svenn; Kendler, Kenneth S.; Neale, Michael C.; Aggen, Steven H.; Reichborn-Kjennerud, Ted

2011-01-01

The Diagnostic and Statistical Manual (4th ed. [DSM–IV]; American Psychiatric Association, 1994) distinction between clinical disorders on Axis I and personality disorders on Axis II has become increasingly controversial. Although substantial comorbidity between axes has been demonstrated, the structure of the liability factors underlying these two groups of disorders is poorly understood. The aim of this study was to determine the latent factor structure of a broad set of common Axis I disorders and all Axis II personality disorders and thereby to identify clusters of disorders and account for comorbidity within and between axes. Data were collected in Norway, through a population-based interview study (N = 2,794 young adult twins). Axis I and Axis II disorders were assessed with the Composite International Diagnostic Interview (CIDI) and the Structured Interview for DSM–IV Personality (SIDP–IV), respectively. Exploratory and confirmatory factor analyses were used to investigate the underlying structure of 25 disorders. A four-factor model fit the data well, suggesting a distinction between clinical and personality disorders as well as a distinction between broad groups of internalizing and externalizing disorders. The location of some disorders was not consistent with the DSM–IV classification; antisocial personality disorder belonged primarily to the Axis I externalizing spectrum, dysthymia appeared as a personality disorder, and borderline personality disorder appeared in an interspectral position. The findings have implications for a meta-structure for the DSM. PMID:21319931

Intrusive Images in Psychological Disorders

PubMed Central

Brewin, Chris R.; Gregory, James D.; Lipton, Michelle; Burgess, Neil

2010-01-01

Involuntary images and visual memories are prominent in many types of psychopathology. Patients with posttraumatic stress disorder, other anxiety disorders, depression, eating disorders, and psychosis frequently report repeated visual intrusions corresponding to a small number of real or imaginary events, usually extremely vivid, detailed, and with highly distressing content. Both memory and imagery appear to rely on common networks involving medial prefrontal regions, posterior regions in the medial and lateral parietal cortices, the lateral temporal cortex, and the medial temporal lobe. Evidence from cognitive psychology and neuroscience implies distinct neural bases to abstract, flexible, contextualized representations (C-reps) and to inflexible, sensory-bound representations (S-reps). We revise our previous dual representation theory of posttraumatic stress disorder to place it within a neural systems model of healthy memory and imagery. The revised model is used to explain how the different types of distressing visual intrusions associated with clinical disorders arise, in terms of the need for correct interaction between the neural systems supporting S-reps and C-reps via visuospatial working memory. Finally, we discuss the treatment implications of the new model and relate it to existing forms of psychological therapy. PMID:20063969

Suicidality in Bipolar Disorder: The Role of Emotion-Triggered Impulsivity.

PubMed

Johnson, Sheri L; Carver, Charles S; Tharp, Jordan A

2017-04-01

A growing body of research suggests that impulsive responses to emotion more robustly predict suicidality than do other forms of impulsivity. This issue has not yet been examined within bipolar disorder, however. Participants diagnosed with bipolar I disorder (n = 133) and control participants (n = 110) diagnosed with no mood or psychotic disorder completed self-report measures of emotion-triggered impulsivity (Negative and Positive Urgency Scales) and interviews concerning lifetime suicidality. Analyses examined the effects of emotion-triggered impulsivity alone and in combination with gender, age of onset, depression severity, comorbid anxiety, comorbid substance use, and medication. A history of suicide ideation and attempts, as well as self-harm, were significantly more common in the bipolar disorder group compared with the control group. Impulsive responses to positive emotions related to suicide ideation, attempts, and self-harm within the bipolar group. Findings extend research on the importance of emotion-triggered impulsivity to a broad range of key outcomes within bipolar disorder. The discussion focuses on limitations and potential clinical implications. © 2016 The American Association of Suicidology.

Recruitment and retention monitoring: facilitating the mission of the National Institute of Neurological Disorders and Stroke (NINDS)

PubMed Central

Roberts, J; Waddy, S; Kaufmann, P

2012-01-01

It is commonly accepted that inefficient recruitment and inadequate retention continue to threaten the completion of clinical trials intended to reduce the public health burden of neurological disease. This article will discuss the scientific, economic, and ethical implications of failure to recruit and retain adequate samples in clinical trials, including the consequences of failing to recruit adequately diverse samples. We will also discuss the more common challenges and barriers to efficient and effective recruitment and retention, and the impact these have on successful clinical trial planning. We will explain the newly established efforts within National Institute of Neurological Disorders and Stroke (NINDS) to monitor recruitment and retention with well-defined metrics and implementation of grant awards that include feasibility milestones for continued funding. Finally, we will describe our efforts to address some of the common challenges to recruitment and retention through assistance to investigators and coordinators with evidence-based support, tools, and resources for planning and strategizing recruitment and retention as well as a trans-NIH effort to improve awareness of clinical research in the general public. PMID:23230460

Associations of sleep disturbance with ADHD: implications for treatment.

PubMed

Hvolby, Allan

2015-03-01

Attention-deficit/hyperactivity disorder (ADHD) is commonly associated with disordered or disturbed sleep. The relationships of ADHD with sleep problems, psychiatric comorbidities and medications are complex and multidirectional. Evidence from published studies comparing sleep in individuals with ADHD with typically developing controls is most concordant for associations of ADHD with: hypopnea/apnea and peripheral limb movements in sleep or nocturnal motricity in polysomnographic studies; increased sleep onset latency and shorter sleep time in actigraphic studies; and bedtime resistance, difficulty with morning awakenings, sleep onset difficulties, sleep-disordered breathing, night awakenings and daytime sleepiness in subjective studies. ADHD is also frequently coincident with sleep disorders (obstructive sleep apnea, peripheral limb movement disorder, restless legs syndrome and circadian-rhythm sleep disorders). Psychostimulant medications are associated with disrupted or disturbed sleep, but also 'paradoxically' calm some patients with ADHD for sleep by alleviating their symptoms. Long-acting formulations may have insufficient duration of action, leading to symptom rebound at bedtime. Current guidelines recommend assessment of sleep disturbance during evaluation of ADHD, and before initiation of pharmacotherapy, with healthy sleep practices the first-line option for addressing sleep problems. This review aims to provide a comprehensive overview of the relationships between ADHD and sleep, and presents a conceptual model of the modes of interaction: ADHD may cause sleep problems as an intrinsic feature of the disorder; sleep problems may cause or mimic ADHD; ADHD and sleep problems may interact, with reciprocal causation and possible involvement of comorbidity; and ADHD and sleep problems may share a common underlying neurological etiology.

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

PubMed Central

Goedert, Michel; Ghetti, Bernardino; Spillantini, Maria Grazia

2012-01-01

Frontotemporal dementia (FTD) comprises a group of behavioral, language, and movement disorders. On the basis of the nature of the characteristic protein inclusions, frontotemporal lobar degeneration (FTLD) can be subdivided into the common FTLD-tau and FTLD-TDP as well as the less common FTLD-FUS and FTLD-UPS. Approximately 10% of cases of FTD are inherited in an autosomal-dominant manner. Mutations in seven genes cause FTD, with those in tau (MAPT), chromosome 9 open reading frame 72 (C9ORF72), and progranulin (GRN) being the most common. Mutations in MAPT give rise to FTLD-tau and mutations in C9ORF72 and GRN to FTLD-TDP. The other four genes are transactive response–DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B). Mutations in TARDBP and VCP give rise to FTLD-TDP, mutations in FUS to FTLD-FUS, and mutations in CHMP2B to FTLD-UPS. The discovery that mutations in MAPT cause neurodegeneration and dementia has important implications for understanding Alzheimer disease. PMID:22355793

Feedforward and Feedback Motor Control Abnormalities Implicate Cerebellar Dysfunctions in Autism Spectrum Disorder

PubMed Central

Mohanty, Suman; Greene, Rachel K.; Cook, Edwin H.; Vaillancourt, David E.; Sweeney, John A.

2015-01-01

Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and among the earliest manifestations of the disorder. They have been studied far less than the social-communication and cognitive deficits that define ASD, but a mechanistic understanding of sensorimotor abnormalities in ASD may provide key insights into the neural underpinnings of the disorder. In this human study, we examined rapid, precision grip force contractions to determine whether feedforward mechanisms supporting initial motor output before sensory feedback can be processed are disrupted in ASD. Sustained force contractions also were examined to determine whether reactive adjustments to ongoing motor behavior based on visual feedback are altered. Sustained force was studied across multiple force levels and visual gains to assess motor and visuomotor mechanisms, respectively. Primary force contractions of individuals with ASD showed greater peak rate of force increases and large transient overshoots. Individuals with ASD also showed increased sustained force variability that scaled with force level and was more severe when visual gain was highly amplified or highly degraded. When sustaining a constant force level, their reactive adjustments were more periodic than controls, and they showed increased reliance on slower feedback mechanisms. Feedforward and feedback mechanism alterations each were associated with more severe social-communication impairments in ASD. These findings implicate anterior cerebellar circuits involved in feedforward motor control and posterior cerebellar circuits involved in transforming visual feedback into precise motor adjustments in ASD. PMID:25653359

Gender identity and autism spectrum disorders.

PubMed

van Schalkwyk, Gerrit I; Klingensmith, Katherine; Volkmar, Fred R

2015-03-01

In this review, we briefly summarize much of the existing literature on gender-related concerns and autism spectrum disorders (ASD), drawing attention to critical shortcomings in our current understanding and potential clinical implications. Some authors have concluded that gender identity disorder (GID), or gender dysphoria (GD), is more common in individuals with ASD, providing a range of potential explanations. However, existing literature is quantitatively limited, and our capacity to draw conclusions is further complicated by conceptual challenges regarding how gender identity is best understood. Discourses that emphasize gender as a component of identity formation are gaining prominence and seem particularly salient when applied to ASD. Individuals with ASD should enjoy equal rights with regard to treatment for gender dysphoria. Clinicians may be able to assist individuals in understanding this aspect of their identity by broadening the social frame and facilitating an exploration of gender roles.

Diagnosis and Management of Polycystic Ovary Syndrome in Adolescent Girls

PubMed Central

Lanzo, Erin; Monge, Maria; Trent, Maria

2017-01-01

Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder in adolescent girls having both reproductive and metabolic implications. Patients with PCOS typically present to their pediatrician for evaluation of menstrual irregularity and/or signs of hyperandrogenism, such as hirsutism and acne. The diagnosis of PCOS is made by clinical symptoms and laboratory evaluation. Because of the long-term health consequences that can accompany the disorder, pediatricians should consider PCOS in their initial evaluation of menstrual irregularity. Lifestyle modification is the cornerstone of treatment for girls with PCOS, however hormonal medication such as oral contraceptive pills and insulin sensitizing agents are useful and effective adjuncts to therapy. The goals of treatment for girls with PCOS are to improve clinical manifestations of the disorder, health-related quality of life, and long-term health outcomes. PMID:26431241

Diagnosis and Management of Polycystic Ovary Syndrome in Adolescent Girls.

PubMed

Lanzo, Erin; Monge, Maria; Trent, Maria

2015-09-01

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in adolescent girls that has both reproductive and metabolic implications. Patients with PCOS typically present to their pediatrician for evaluation of menstrual irregularity and/or signs of hyperandrogenism, such as hirsutism and acne. The diagnosis of PCOS is made by clinical symptoms and laboratory evaluation. Because of the long-term health consequences that can accompany the disorder, pediatricians should consider PCOS in their initial evaluation of menstrual irregularity. Lifestyle modification is the cornerstone of treatment for girls with PCOS; however, hormonal medication such as oral contraceptive pills and insulin-sensitizing agents are useful and effective adjuncts to therapy. The goals of treatment for girls with PCOS are to improve clinical manifestations of the disorder, health-related quality of life, and long-term health outcomes. Copyright 2015, SLACK Incorporated.

Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

PubMed Central

Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

2015-01-01

Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

Sleep patterns and the risk for unipolar depression: a review

PubMed Central

Wiebe, Sabrina T; Cassoff, Jamie; Gruber, Reut

2012-01-01

Psychological disorders, particularly mood disorders, such as unipolar depression, are often accompanied by comorbid sleep disturbances, such as insomnia, restless sleep, and restricted sleep duration. The nature of the relationship between unipolar depression and these sleep disturbances remains unclear, as sleep disturbance may be a risk factor for development, an initial manifestation of the disorder, or a comorbid condition affected by similar mechanisms. Various studies have examined the impact of sleep deprivation on the presence of (or exacerbation of) depressive symptoms, and have examined longitudinal and concurrent associations between different sleep disturbances and unipolar depression. This review examines the evidence for sleep disturbances as a risk factor for the development and presence of depression, as well as examining common underlying mechanisms. Clinical implications pertaining to the comorbid nature of various sleep patterns and depression are considered. PMID:23620679

Psychiatric emergencies (part II): psychiatric disorders coexisting with organic diseases.

PubMed

Testa, A; Giannuzzi, R; Sollazzo, F; Petrongolo, L; Bernardini, L; Dain, S

2013-02-01

In this Part II psychiatric disorders coexisting with organic diseases are discussed. "Comorbidity phenomenon" defines the not univocal interrelation between medical illnesses and psychiatric disorders, each other negatively influencing morbidity and mortality. Most severe psychiatric disorders, such as schizophrenia, bipolar disorder and depression, show increased prevalence of cardiovascular disease, related to poverty, use of psychotropic medication, and higher rate of preventable risk factors such as smoking, addiction, poor diet and lack of exercise. Moreover, psychiatric and organic disorders can develop together in different conditions of toxic substance and prescription drug use or abuse, especially in the emergency setting population. Different combinations with mutual interaction of psychiatric disorders and substance use disorders are defined by the so called "dual diagnosis". The hypotheses that attempt to explain the psychiatric disorders and substance abuse relationship are examined: (1) common risk factors; (2) psychiatric disorders precipitated by substance use; (3) psychiatric disorders precipitating substance use (self-medication hypothesis); and (4) synergistic interaction. Diagnostic and therapeutic difficulty concerning the problem of dual diagnosis, and legal implications, are also discussed. Substance induced psychiatric and organic symptoms can occur both in the intoxication and withdrawal state. Since ancient history, humans selected indigene psychotropic plants for recreational, medicinal, doping or spiritual purpose. After the isolation of active principles or their chemical synthesis, higher blood concentrations reached predispose to substance use, abuse and dependence. Abuse substances have specific molecular targets and very different acute mechanisms of action, mainly involving dopaminergic and serotoninergic systems, but finally converging on the brain's reward pathways, increasing dopamine in nucleus accumbens. The most common substances producing an addiction status may be assembled in depressants (alcohol, benzodiazepines, opiates), stimulants (cocaine, amphetamines, nicotine, caffeine, modafinil), hallucinogens (mescaline, LSD, ecstasy) and other substances (cannabis, dissociatives, inhalants). Anxiety disorders can occur in intoxication by stimulants, as well as in withdrawal syndrome, both by stimulants and sedatives. Substance induced mood disorders and psychotic symptoms are as much frequent conditions in ED, and the recognition of associated organic symptoms may allow to achieve diagnosis. Finally, psychiatric and organic symptoms may be caused by prescription and doping medications, either as a direct effect or after withdrawal. Adverse drug reactions can be divided in type A, dose dependent and predictable, including psychotropic drugs and hormones; and type B, dose independent and unpredictable, usually including non psychotropic drugs, more commonly included being cardiovascular, antibiotics, anti-inflammatory and antineoplastic medications.

Common pathophysiological mechanisms involved in luteal phase deficiency and polycystic ovary syndrome. Impact on fertility.

PubMed

Boutzios, Georgios; Karalaki, Maria; Zapanti, Evangelia

2013-04-01

Luteal phase deficiency (LPD) is a consequence of the corpus luteum (CL) inability to produce and preserve adequate levels of progesterone. This is clinically manifested by short menstrual cycles and infertility. Abnormal follicular development, defects in neo-angiogenesis or inadequate steroidogenesis in the lutein cells of the CL have been implicated in CL dysfunction and LPD. LPD and polycystic ovary syndrome (PCOS) are independent disorders sharing common pathophysiological profiles. Factors such as hyperinsulinemia, AMH excess, and defects in angiogenesis of CL are at the origin of both LPD and PCOS. In PCOS ovulatory cycles, infertility could result from dysfunctional CL. The aim of this review was to investigate common mechanisms of infertility in CL dysfunction and PCOS.

A Brief Taxometrics Primer

PubMed Central

Beauchaine, Theodore P.

2009-01-01

Taxometric procedures provide an empirical means of determining which psychiatric disorders are typologically distinct from normal behavioral functioning. Although most disorders reflect extremes along continuously distributed behavioral traits, identifying those that are discrete has important implications for accurate diagnosis, effective treatment, early identification of risk, and improved understanding of etiology. This article provides (a) brief descriptions of the conceptual bases of several taxometric procedures, (b) example analyses using simulated data, and (c) strategies for avoiding common pitfalls that are often observed in taxometrics research. To date, most taxometrics studies have appeared in the adult psychopathology literature. It is hoped that this primer will encourage interested readers to extend taxometrics research to child and adolescent populations. PMID:18088222

Fragile X--a challenge to models of the mind and to best clinical practice.

PubMed

Hay, David A

2008-06-01

Cornish et al. (2008, this issue) provide an excellent review of Fragile X a common but very complex cause of intellectual disability. They report on a cohort of such males of normal intelligence quotient (IQ) and socioeconomic status (SES), but who have deficits in selective attention and growing impairment in response inhibition. This paper has theoretical views for our models of the mind and clinical implications for families where Fragile X may never have been considered as a possible cause of some of the problems in male and female family members and possibly as well for other disorders such as attention deficit hyperactivity disorder (ADHD) and autism.

Diagnosis of adolescent polycystic ovary syndrome.

PubMed

Hardy, Tristan S E; Norman, Robert J

2013-08-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age and is increasingly recognized as a disorder manifesting in the peripubertal and adolescent period. Diagnosis in the adolescent is difficult due to the high background rate of menstrual irregularity, the high prevalence of polycystic ovarian morphology and hyperandrogenic features in this population. Recent guidelines suggest that menstrual irregularity for over two years, reduced reliance on ultrasound diagnosis of polycystic ovarian morphology, and accurate assessment of hyperandrogenic and metabolic features are suitable strategies for the diagnosis of PCOS in the adolescent. Accurate diagnosis is important given the long-term implications of the disorder, with increasing emphasis on metabolic sequelae. Copyright © 2013 Elsevier Inc. All rights reserved.

An auditory-neuroscience perspective on the development of selective mutism.

PubMed

Henkin, Yael; Bar-Haim, Yair

2015-04-01

Selective mutism (SM) is a relatively rare psychiatric disorder of childhood characterized by consistent inability to speak in specific social situations despite the ability to speak normally in others. SM typically involves severe impairments in social and academic functioning. Common complications include school failure, social difficulties in the peer group, and aggravated intra-familial relationships. Although SM has been described in the medical and psychological literatures for many years, the potential underlying neural basis of the disorder has only recently been explored. Here we explore the potential role of specific auditory neural mechanisms in the psychopathology of SM and discuss possible implications for treatment. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Experimentally-induced dissociation impairs visual memory.

PubMed

Brewin, Chris R; Mersaditabari, Niloufar

2013-12-01

Dissociation is a phenomenon common in a number of psychological disorders and has been frequently suggested to impair memory for traumatic events. In this study we explored the effects of dissociation on visual memory. A dissociative state was induced experimentally using a mirror-gazing task and its short-term effects on memory performance were investigated. Sixty healthy individuals took part in the experiment. Induced dissociation impaired visual memory performance relative to a control condition; however, the degree of dissociation was not associated with lower memory scores in the experimental group. The results have theoretical and practical implications for individuals who experience frequent dissociative states such as patients with posttraumatic stress disorder (PTSD). Copyright © 2013 Elsevier Inc. All rights reserved.

Autoinflammatory diseases in adults. Clinical characteristics and prognostic implications.

PubMed

González García, A; Patier de la Peña, J L; Ortego Centeno, N

2017-03-01

Autoinflammatory diseases are clinical conditions with inflammatory manifestations that present in a periodic or persistent manner and are caused by acquired or hereditary disorders of the innate immune response. In general, these diseases are more common in childhood, but cases have been reported in adults and are therefore important for all specialists. There are few references on these diseases in adults due to their low prevalence and underdiagnosis. The aim of this study is to review the scientific literature on these disorders to systematise their clinical, prognostic and treatment response characteristics in adults. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

Update of sleep alterations in depression

PubMed Central

Medina, Andrés Barrera; Lechuga, DeboraYoaly Arana; Escandón, Oscar Sánchez; Moctezuma, Javier Velázquez

2014-01-01

Sleep disturbances in depression are up to 70%. Patients frequently have difficulty in falling asleep, frequent awakenings during the night and non-restorative sleep. Sleep abnormalities in depression are mainly characterized by increased rapid eye movement (REM) sleep and reduced slow wave sleep. Among the mechanisms of sleep disturbances in depression are hyperactivation of the hypothalamic-pituitary-adrenal axis, CLOCK gene polymorphism and primary sleep disorders. The habenula is a structure regulating the activities of monoaminergic neurons in the brain. The hyperactivation of the habenula has also been implicated, together with sleep disturbances, in depression. The presence of depression in primary sleep disorders is common. Sleep disturbances treatment include pharmacotherapy or Cognitive Behavioral Therapy. PMID:26483922

Social anxiety and disordered eating: The influence of stress reactivity and self-esteem.

PubMed

Ciarma, Jessica Lyn; Mathew, Jaya Miriam

2017-08-01

While previous research indicates a strong link between social anxiety and disordered eating, more research is needed in order to understand the mechanisms that underlie this relationship. Given that stress is often implicated in disordered eating, it was hypothesised that ones reaction to stress (i.e. stress reactivity) would mediate the relationship between social anxiety and disordered eating. Similarly, given that low self-esteem is commonly reported in both those with social anxiety and eating disorders, it was hypothesised that self-esteem would also mediate the relationship between social anxiety and disordered eating. In order to test this, an online survey measuring social anxiety, disordered eating, stress reactivity and self-esteem, was administered to 282 participants in the community, aged between 18 and 35years. Results showed that self-esteem and a reactivity to stress during social conflict - but not during negative social evaluations - partially mediated the relationship between social anxiety and disordered eating. These findings demonstrate that low self-esteem and interpersonal conflict are powerful mechanisms that can maintain eating disorder psychopathology in those who are socially anxious. This highlights the importance of ensuring that these mechanisms are sufficiently addressed in eating disorder prevention and treatment programs. Copyright © 2017 Elsevier Ltd. All rights reserved.

Acute movement disorders in the medical setting.

PubMed

Zawar, Ifrah; Caro, Mario A; Feldman, Lara; Jimenez, Xavier F

2016-07-01

Objective Psychosomatic medicine psychiatrists are often tasked with the evaluation and treatment of complex neuropsychiatric states which may be motoric in phenotype. Little energy has been dedicated to understanding acute movement disorders in the hospital environment. Method Recognizing the importance of frontal-subcortical (corticostriatothalamocortical) circuitry and basal ganglia structures, we present a case series of acute movement disorder phenotypes resulting from underlying medical conditions, commonly-administered medications, or the interaction of both. We organize these scenarios into neurodegenerative disorders, primary psychiatric disorders, neuroinflammation, and polypharmacy, demonstrating a clinical example of each followed by background references on a variety of clinical states and medications contributing to acute movement disorders. In addition, we offer visual illustration of implicated neurocircuitry as well as proposed neurotransmitter imbalances involving glutamate, gamma aminobutyric acid, and dopamine. Furthermore, we review the various clinical syndromes and medications involved in the development of acute movement disorders. Results Acute movement disorder's involve complex interactions between frontal-subcortical circuits and acute events. Given the complexity of interactions, psychopharmacological considerations become critical, as some treatments may alleviate acute movement disorders while others will exacerbate them. Conclusion Integrating underlying medical conditions and acutely administered (or discontinued) pharmacological agents offers an interactional, neuromedical approach to acute movement disorders that is critical to the work of psychosomatic medicine.

Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study.

PubMed

de Verdier, Kim; Ulla, Ek; Löfgren, Stefan; Fernell, Elisabeth

2018-05-01

The aim was to describe the population of children with congenital or early infancy blindness in Sweden, with regard to causes of blindness and prevalence of neurodevelopmental impairments. Medical, psychological and pedagogical records of Swedish children with congenital or early infancy blindness (total blindness or light perception at the most) born in 1988-2008 were analysed regarding year of birth, gender, cause of blindness, gestational age, associated neurological disorders/syndromes, associated neurodevelopmental impairments, cognitive level and type of school placement. A total of 150 individuals, 80 girls and 70 boys, were identified, corresponding to a prevalence of 7/100 000. Five causes of blindness dominated, constituting 76% of all represented aetiologies: retinopathy of prematurity (ROP), optic nerve hypoplasia (ONH), Leber congenital amaurosis (LCA), optic nerve atrophy (ONA) and microphthalmia/anophthalmia. Nearly three of four children in the study population had at least one additional disability besides blindness; the most common being intellectual disability (ID) and autism spectrum disorder (ASD). More than half of the population had more than one additional disability. Autism spectrum disorder (ASD) was most common in children with ONH, ROP, LCA and microphthalmia/anophthalmia. In children born within the last decades, isolated blindness is uncommon and the rate of multidisabilities is high. Autism spectrum disorder (ASD) seems to be more strongly associated with specific aetiological subgroups. Further development of the support to families and schools should be based on knowledge about the considerable heterogeneity of the population of children with blindness, and the common occurrence of coexisting neurodevelopmental disorders, especially ID and ASD. © 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery.

PubMed

McCarthy, Mark I

2009-07-03

Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies.

TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.

PubMed

Kromberg, J G R; Bothwell, J; Kidson, S H; Manga, P; Kerr, R; Jenkins, T

2012-01-01

Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. To investigate and classify the different types of albinism commonly found and to determine the clinical implications for each type. A descriptive survey. Gauteng province, South Africa, and Lesotho. Three groups of subjects with OCA (96 from a genetics clinic, 62 from a dermatology clinic, and 31 from community surveys) from the black African population participated. Subjects underwent clinical and/or dermatological examinations and were then classified according to type of OCA. Four forms of OCA were identified: most (82%) subjects had OCA2 (a tyrosinase- positive type) with three sub-types: those without large freckles (ephelides) on exposed areas (named OCA 2a in this study), those with such freckles (named OCA 2b), and those with brown albinism (BOCA); the remainder had red/rufous albinism, ROCA (OCA 3). The four forms could be distinguished from each other clinically without using molecular genetic testing. The most common types of albinism found in the black population of Southern Africa are OCA2 and OCA3. Given the high prevalence of the disorder, together with the high risk of skin cancer, and the recent persecution of affected individuals in certain East African countries, these findings and their clinical implications have significance in terms of both education and awareness for health professionals and lay people caring for those with albinism.

Mental health professionals' natural taxonomies of mental disorders: implications for the clinical utility of the ICD-11 and the DSM-5.

PubMed

Reed, Geoffrey M; Roberts, Michael C; Keeley, Jared; Hooppell, Catherine; Matsumoto, Chihiro; Sharan, Pratap; Robles, Rebeca; Carvalho, Hudson; Wu, Chunyan; Gureje, Oye; Leal-Leturia, Itzear; Flanagan, Elizabeth H; Correia, João Mendonça; Maruta, Toshimasa; Ayuso-Mateos, José Luís; de Jesus Mari, Jair; Xiao, Zeping; Evans, Spencer C; Saxena, Shekhar; Medina-Mora, María Elena

2013-12-01

To examine the conceptualizations held by psychiatrists and psychologists around the world of the relationships among mental disorders in order to inform decisions about the structure of the classification of mental and behavioral disorders in World Health Organization's International Classification of Diseases and Related Health Problems 11th Revision (ICD-11). 517 mental health professionals in 8 countries sorted 60 cards containing the names of mental disorders into groups of similar disorders, and then formed a hierarchical structure by aggregating and disaggregating these groupings. Distance matrices were created from the sorting data and used in cluster and correlation analyses. Clinicians' taxonomies were rational, interpretable, and extremely stable across countries, diagnostic system used, and profession. Clinicians' consensus classification structure was different from ICD-10 and the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders 4th Edition (DSM-IV), but in many respects consistent with ICD-11 proposals. The clinical utility of the ICD-11 may be improved by making its structure more compatible with the common conceptual organization of mental disorders observed across diverse global clinicians. © 2013 Wiley Periodicals, Inc.

Hypermethylation in the ZBTB20 gene is associated with major depressive disorder

PubMed Central

2014-01-01

Background Although genetic variation is believed to contribute to an individual’s susceptibility to major depressive disorder, genome-wide association studies have not yet identified associations that could explain the full etiology of the disease. Epigenetics is increasingly believed to play a major role in the development of common clinical phenotypes, including major depressive disorder. Results Genome-wide MeDIP-Sequencing was carried out on a total of 50 monozygotic twin pairs from the UK and Australia that are discordant for depression. We show that major depressive disorder is associated with significant hypermethylation within the coding region of ZBTB20, and is replicated in an independent cohort of 356 unrelated case-control individuals. The twins with major depressive disorder also show increased global variation in methylation in comparison with their unaffected co-twins. ZBTB20 plays an essential role in the specification of the Cornu Ammonis-1 field identity in the developing hippocampus, a region previously implicated in the development of major depressive disorder. Conclusions Our results suggest that aberrant methylation profiles affecting the hippocampus are associated with major depressive disorder and show the potential of the epigenetic twin model in neuro-psychiatric disease. PMID:24694013

[Comorbidity in generalized anxiety disorder: prevalence and course after cognitive-behavioural therapy].

PubMed

Provencher, Martin D; Ladouceur, Robert; Dugas, Michel J

2006-02-01

To evaluate the prevalence and course of Axis I concurrent disorders in a population of patients who underwent cognitive-behavioural therapy (CBT) to treat their generalized anxiety disorder (GAD). This study is a secondary analysis combining patients from 3 treatment studies done at Université Laval. A total of 90 patients with a DSM-IV consistent GAD diagnosis received from 12 to 16 CBT sessions to treat GAD. Symptomatology was assessed at pretest, posttest, and 6 months after treatment, with the Anxiety Disorders Interview Schedule, a structured diagnostic interview. Seventy-three per cent of patients had both GAD and a concurrent diagnosis. The most common diagnoses were simple phobia, social phobia, panic disorder, and major depression. CBT applied to GAD decreases the number of concurrent diagnoses. A panic disorder or a greater number of concurrent diagnoses at pretest is associated with a less efficient treatment at follow-up 6 months later. Patients with GAD have a high comorbidity rate with other Axis I disorders, but these significantly decrease after a short CBT aimed at GAD. Implications for GAD treatment and mechanisms that might explain these findings are discussed.

Extinction learning in childhood anxiety disorders, obsessive compulsive disorder and posttraumatic stress disorder: implications for treatment

PubMed Central

McGuire, Joseph F.; Orr, Scott P.; Essoe, Joey K.-Y.; McCracken, James T.; Storch, Eric A.; Piacentini, John

2018-01-01

Introduction Threat conditioning and extinction play an important role in anxiety disorders, obsessive compulsive disorder (OCD), and posttraumatic stress disorder (PTSD). Although these conditions commonly affect children, threat conditioning and extinction have been primarily studied in adults. However, differences in phenomenology and neural architecture prohibit the generalization of adult findings to youth. Areas covered A comprehensive literature search using PubMed and PsycInfo was conducted to identify studies that have used differential conditioning tasks to examine threat acquisition and extinction in youth. The information obtained from this review helps to clarify the influence of these processes on the etiology and treatment of youth with OCD, PTSD and other anxiety disorders. Thirty studies of threat conditioning and extinction were identified. Expert Commentary Youth with anxiety disorders, OCD, and PTSD have largely comparable threat acquisition relative to unaffected controls, with some distinctions noted for youth with PTSD or youth who have suffered maltreatment. However, impaired extinction was consistently observed across youth with these disorders and appears to be consistent with deficiencies in inhibitory learning. Incorporating strategies to improve inhibitory learning may improve extinction learning within extinction-based treatments like cognitive behavioral therapy (CBT). Strategies to improve inhibitory learning in CBT are discussed. PMID:27275519

Autism spectrum disorder: Consensus guidelines on assessment, treatment and research from the British Association for Psychopharmacology.

PubMed

Howes, Oliver D; Rogdaki, Maria; Findon, James L; Wichers, Robert H; Charman, Tony; King, Bryan H; Loth, Eva; McAlonan, Gráinne M; McCracken, James T; Parr, Jeremy R; Povey, Carol; Santosh, Paramala; Wallace, Simon; Simonoff, Emily; Murphy, Declan G

2018-01-01

An expert review of the aetiology, assessment, and treatment of autism spectrum disorder, and recommendations for diagnosis, management and service provision was coordinated by the British Association for Psychopharmacology, and evidence graded. The aetiology of autism spectrum disorder involves genetic and environmental contributions, and implicates a number of brain systems, in particular the gamma-aminobutyric acid, serotonergic and glutamatergic systems. The presentation of autism spectrum disorder varies widely and co-occurring health problems (in particular epilepsy, sleep disorders, anxiety, depression, attention deficit/hyperactivity disorder and irritability) are common. We did not recommend the routine use of any pharmacological treatment for the core symptoms of autism spectrum disorder. In children, melatonin may be useful to treat sleep problems, dopamine blockers for irritability, and methylphenidate, atomoxetine and guanfacine for attention deficit/hyperactivity disorder. The evidence for use of medication in adults is limited and recommendations are largely based on extrapolations from studies in children and patients without autism spectrum disorder. We discuss the conditions for considering and evaluating a trial of medication treatment, when non-pharmacological interventions should be considered, and make recommendations on service delivery. Finally, we identify key gaps and limitations in the current evidence base and make recommendations for future research and the design of clinical trials.

Extinction learning in childhood anxiety disorders, obsessive compulsive disorder and post-traumatic stress disorder: implications for treatment.

PubMed

McGuire, Joseph F; Orr, Scott P; Essoe, Joey K-Y; McCracken, James T; Storch, Eric A; Piacentini, John

2016-10-01

Threat conditioning and extinction play an important role in anxiety disorders, obsessive compulsive disorder (OCD), and post-traumatic stress disorder (PTSD). Although these conditions commonly affect children, threat conditioning and extinction have been primarily studied in adults. However, differences in phenomenology and neural architecture prohibit the generalization of adult findings to youth. A comprehensive literature search using PubMed and PsycInfo was conducted to identify studies that have used differential conditioning tasks to examine threat acquisition and extinction in youth. The information obtained from this review helps to clarify the influence of these processes on the etiology and treatment of youth with OCD, PTSD and other anxiety disorders. Thirty studies of threat conditioning and extinction were identified Expert commentary: Youth with anxiety disorders, OCD, and PTSD have largely comparable threat acquisition relative to unaffected controls, with some distinctions noted for youth with PTSD or youth who have suffered maltreatment. However, impaired extinction was consistently observed across youth with these disorders and appears to be consistent with deficiencies in inhibitory learning. Incorporating strategies to improve inhibitory learning may improve extinction learning within extinction-based treatments like cognitive behavioral therapy (CBT). Strategies to improve inhibitory learning in CBT are discussed.

Patterns of co-occurring addictions, posttraumatic stress disorder, and major depressive disorder in detoxification treatment seekers: Implications for improving detoxification treatment outcomes.

PubMed

Anderson, RaeAnn E; Hruska, Bryce; Boros, Alec P; Richardson, Christopher J; Delahanty, Douglas L

2018-03-01

Poly-substance use and psychiatric comorbidity are common among individuals receiving substance detoxification services. Posttraumatic stress disorder (PTSD) and major depressive disorder (MDD) are the most common co-occurring psychiatric disorders with substance use disorder (SUD). Current treatment favors a one-size-fits-all approach to treating addiction focusing on one substance or one comorbidity. Research examining patterns of substance use and comorbidities can inform efforts to effectively identify and differentially treat individuals with co-occurring conditions. Using latent class analysis, the current study identified four patterns of PTSD, MDD, and substance use among 375 addiction treatment seekers receiving medically supervised detoxification. The four identified classes were: 1) a PTSD-MDD-Poly SUD class characterized by PTSD and MDD occurring in the context of opioid, cannabis, and tobacco use disorders; 2) an MDD-Poly SUD class characterized by MDD and alcohol, opioid, tobacco, and cannabis use disorders; 3) an alcohol-tobacco class characterized by alcohol and tobacco use disorders; and 4) an opioid-tobacco use disorder class characterized by opioid and tobacco use disorders. The observed classes differed on gender and clinical characteristics including addiction severity, trauma history, and PTSD/MDD symptom severity. The observed classes likely require differing treatment approaches. For example, people in the PTSD-MDD-Poly SUD class would likely benefit from treatment approaches targeting anxiety sensitivity and distress tolerance, while the opioid-tobacco class would benefit from treatments that incorporate motivational interviewing. Appropriate matching of treatment to class could optimize treatment outcomes for polysubstance and comorbid psychiatric treatment seekers. These findings also underscore the importance of well-developed referral networks to optimize outpatient psychotherapy for detoxification treatment-seekers to enhance long-term recovery, particularly those that include transdiagnostic treatment components. Copyright © 2017. Published by Elsevier Inc.

Narrative review of the safety and efficacy of marijuana for the treatment of commonly state-approved medical and psychiatric disorders.

PubMed

Belendiuk, Katherine A; Baldini, Lisa L; Bonn-Miller, Marcel O

2015-04-21

The present investigation aimed to provide an objective narrative review of the existing literature pertaining to the benefits and harms of marijuana use for the treatment of the most common medical and psychological conditions for which it has been allowed at the state level. Common medical conditions for which marijuana is allowed (i.e., those conditions shared by at least 80 percent of medical marijuana states) were identified as: Alzheimer's disease, amyotrophic lateral sclerosis, cachexia/wasting syndrome, cancer, Crohn's disease, epilepsy and seizures, glaucoma, hepatitis C virus, human immunodeficiency virus/acquired immunodeficiency syndrome, multiple sclerosis and muscle spasticity, severe and chronic pain, and severe nausea. Post-traumatic stress disorder was also included in the review, as it is the sole psychological disorder for which medical marijuana has been allowed. Studies for this narrative review were included based on a literature search in PsycINFO, MEDLINE, and Google Scholar. Findings indicate that, for the majority of these conditions, there is insufficient evidence to support the recommendation of medical marijuana at this time. A significant amount of rigorous research is needed to definitively ascertain the potential implications of marijuana for these conditions. It is important for such work to not only examine the effects of smoked marijuana preparations, but also to compare its safety, tolerability, and efficacy in relation to existing pharmacological treatments.

Unique and related predictors of major depressive disorder, posttraumatic stress disorder, and their comorbidity after Hurricane Katrina.

PubMed

Nillni, Yael I; Nosen, Elizabeth; Williams, Patrick A; Tracy, Melissa; Coffey, Scott F; Galea, Sandro

2013-10-01

The current study examined demographic and psychosocial factors that predict major depressive disorder (MDD) and comorbid MDD/posttraumatic stress disorder (MDD/PTSD) diagnostic status after Hurricane Katrina, one of the deadliest and costliest hurricanes in the history of the United States. This study expanded on the findings published in the article by Galea, Tracy, Norris, and Coffey (J Trauma Stress 21:357-368, 2008), which examined the same predictors for PTSD, to better understand related and unique predictors of MDD, PTSD, and MDD/PTSD comorbidity. A total of 810 individuals representative of adult residents living in the 23 southernmost counties of Mississippi before Hurricane Katrina were interviewed. Ongoing hurricane-related stressors, low social support, and hurricane-related financial loss were common predictors of MDD, PTSD, and MDD/PTSD, whereas educational and marital status emerged as unique predictors of MDD. Implications for postdisaster relief efforts that address the risk for both MDD and PTSD are discussed.

Antioxidant gene therapy against neuronal cell death

PubMed Central

Navarro-Yepes, Juliana; Zavala-Flores, Laura; Annadurai, Anandhan; Wang, Fang; Skotak, Maciej; Chandra, Namas; Li, Ming; Pappa, Aglaia; Martinez-Fong, Daniel; Razo, Luz Maria Del; Quintanilla-Vega, Betzabet; Franco, Rodrigo

2014-01-01

Oxidative stress is a common hallmark of neuronal cell death associated with neurodegenerative disorders such as Alzheimer’s disease, Parkinson’s disease, as well as brain stroke/ischemia and traumatic brain injury. Increased accumulation of reactive species of both oxygen (ROS) and nitrogen (RNS) has been implicated in mitochondrial dysfunction, energy impairment, alterations in metal homeostasis and accumulation of aggregated proteins observed in neurodegenerative disorders, which lead to the activation/modulation of cell death mechanisms that include apoptotic, necrotic and autophagic pathways. Thus, the design of novel antioxidant strategies to selectively target oxidative stress and redox imbalance might represent important therapeutic approaches against neurological disorders. This work reviews the evidence demonstrating the ability of genetically encoded antioxidant systems to selectively counteract neuronal cell loss in neurodegenerative diseases and ischemic brain damage. Because gene therapy approaches to treat inherited and acquired disorders offer many unique advantages over conventional therapeutic approaches, we discussed basic research/clinical evidence and the potential of virus-mediated gene delivery techniques for antioxidant gene therapy. PMID:24333264

Anxious ultimatums: how anxiety disorders affect socioeconomic behaviour.

PubMed

Grecucci, Alessandro; Giorgetta, Cinzia; Brambilla, Paolo; Zuanon, Sophia; Perini, Laura; Balestrieri, Matteo; Bonini, Nicolao; Sanfey, Alan G

2013-01-01

Although the role of emotion in socioeconomic decision making is increasingly recognised, the impact of specific emotional disorders, such as anxiety disorders, on these decisions has been surprisingly neglected. Twenty anxious patients and twenty matched controls completed a commonly used socioeconomic task (the Ultimatum Game), in which they had to accept or reject monetary offers from other players. Anxious patients accepted significantly more unfair offers than controls. We discuss the implications of these findings in light of recent models of anxiety, in particular the importance of interpersonal factors and assertiveness in an integrated model of decision making. Finally, we were able to show that pharmacological serotonin used to treat anxious symptomatology tended to normalise decision making, further confirming and extending the role of serotonin in co-operation, prosocial behaviour, and social decision making. These results show, for the first time, a different pattern of socioeconomic behaviour in anxiety disordered patients, in addition to the known memory, attentional and emotional biases that are part of this pathological condition.

Causal models of attention-deficit/hyperactivity disorder: from common simple deficits to multiple developmental pathways.

PubMed

Sonuga-Barke, Edmund J S

2005-06-01

Until recently, causal models of attention-deficit/hyperactivity disorder (ADHD) have tended to focus on the role of common, simple, core deficits. One such model highlights the role of executive dysfunction due to deficient inhibitory control resulting from disturbances in the frontodorsal striatal circuit and associated mesocortical dopaminergic branches. An alternative model presents ADHD as resulting from impaired signaling of delayed rewards arising from disturbances in motivational processes, involving frontoventral striatal reward circuits and mesolimbic branches terminating in the ventral striatum, particularly the nucleus accumbens. In the present article, these models are elaborated in two ways. First, they are each placed within their developmental context by consideration of the role of person x environment correlation and interaction and individual adaptation to developmental constraint. Second, their relationship to one another is reviewed in the light of recent data suggesting that delay aversion and executive functions might each make distinctive contributions to the development of the disorder. This provides an impetus for theoretical models built around the idea of multiple neurodevelopmental pathways. The possibility of neuropathologic heterogeneity in ADHD is likely to have important implications for the clinical management of the condition, potentially impacting on both diagnostic strategies and treatment options.

Stress in Obesity and Associated Metabolic and Cardiovascular Disorders

PubMed Central

Holvoet, Paul

2012-01-01

Obesity has significant implications for healthcare, since it is a major risk factor for both type 2 diabetes and the metabolic syndrome. This syndrome is a common and complex disorder combining obesity, dyslipidemia, hypertension, and insulin resistance. It is associated with high atherosclerotic cardiovascular risk, which can only partially be explained by its components. Therefore, to explain how obesity contributes to the development of metabolic and cardiovascular disorders, more and better insight is required into the effects of personal and environmental stress on disease processes. In this paper, we show that obesity is a chronic inflammatory disease, which has many molecular mechanisms in common with atherosclerosis. Furthermore, we focus on the role of oxidative stress associated with obesity in the development of the metabolic syndrome. We discuss how several stress conditions are related to inflammation and oxidative stress in association with obesity and its complications. We also emphasize the relation between stress conditions and the deregulation of epigenetic control mechanisms by means of microRNAs and show how this impairment further contributes to the development of obesity, closing the vicious circle. Finally, we discuss the limitations of current anti-inflammation and antioxidant therapy to treat obesity. PMID:24278677

Reassessment of psychological distress and post-traumatic stress disorder in United States Air Force Distributed Common Ground System operators.

PubMed

Prince, Lillian; Chappelle, Wayne L; McDonald, Kent D; Goodman, Tanya; Cowper, Sara; Thompson, William

2015-03-01

The goal of this study was to assess for the main sources of occupational stress, as well as self-reported symptoms of distress and post-traumatic stress disorder among U.S. Air Force (USAF) Distributed Common Ground System (DCGS) intelligence exploitation and support personnel. DCGS intelligence operators (n=1091) and nonintelligence personnel (n = 447) assigned to a USAF Intelligence, Surveillance, and Reconnaissance Wing responded to the web-based survey. The overall survey response rate was 31%. Study results revealed the most problematic stressors among DCGS intelligence personnel included high workload, low manning, as well as organizational leadership and shift work issues. Results also revealed 14.35% of DCGS intelligence operators' self-reported high levels of psychological distress (twice the rate of DCGS nonintelligence support personnel). Furthermore, 2.0% to 2.5% self-reported high levels of post-traumatic stress disorder symptoms, with no significant difference between groups. The implications of these findings are discussed along with recommendations for USAF medical and mental health providers, as well as operational leadership. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Sleep and its importance in adolescence and in common adolescent somatic and psychiatric conditions

PubMed Central

Brand, Serge; Kirov, Roumen

2011-01-01

Restoring sleep is strongly associated with a better physical, cognitive, and psychological well-being. By contrast, poor or disordered sleep is related to impairment of cognitive and psychological functioning and worsened physical health. These associations are well documented not only in adults but also in children and adolescents. Importantly, adolescence is hallmarked by dramatic maturational changes in sleep and its neurobiological regulation, hormonal status, and many psychosocial and physical processes. Thus, the role of sleep in mental and physical health during adolescence and in adolescent patients is complex. However, it has so far received little attention. This review first presents contemporary views about the complex neurobiology of sleep and its functions with important implications for adolescence. Second, existing complex relationships between common adolescent somatic/organic, sleep-related, and psychiatric disorders and certain sleep alterations are discussed. It is concluded that poor or altered sleep in adolescent patients may trigger and maintain many psychiatric and physical disorders or combinations of these conditions, which presumably hinder recovery and may cross into later stages of life. Therefore, timely diagnosis and management of sleep problems appear critical for growth and development in adolescent patients. PMID:21731894

The dopamine hypothesis of bipolar affective disorder: the state of the art and implications for treatment

PubMed Central

Ashok, A H; Marques, T R; Jauhar, S; Nour, M M; Goodwin, G M; Young, A H; Howes, O D

2017-01-01

Bipolar affective disorder is a common neuropsychiatric disorder. Although its neurobiological underpinnings are incompletely understood, the dopamine hypothesis has been a key theory of the pathophysiology of both manic and depressive phases of the illness for over four decades. The increased use of antidopaminergics in the treatment of this disorder and new in vivo neuroimaging and post-mortem studies makes it timely to review this theory. To do this, we conducted a systematic search for post-mortem, pharmacological, functional magnetic resonance and molecular imaging studies of dopamine function in bipolar disorder. Converging findings from pharmacological and imaging studies support the hypothesis that a state of hyperdopaminergia, specifically elevations in D2/3 receptor availability and a hyperactive reward processing network, underlies mania. In bipolar depression imaging studies show increased dopamine transporter levels, but changes in other aspects of dopaminergic function are inconsistent. Puzzlingly, pharmacological evidence shows that both dopamine agonists and antidopaminergics can improve bipolar depressive symptoms and perhaps actions at other receptors may reconcile these findings. Tentatively, this evidence suggests a model where an elevation in striatal D2/3 receptor availability would lead to increased dopaminergic neurotransmission and mania, whilst increased striatal dopamine transporter (DAT) levels would lead to reduced dopaminergic function and depression. Thus, it can be speculated that a failure of dopamine receptor and transporter homoeostasis might underlie the pathophysiology of this disorder. The limitations of this model include its reliance on pharmacological evidence, as these studies could potentially affect other monoamines, and the scarcity of imaging evidence on dopaminergic function. This model, if confirmed, has implications for developing new treatment strategies such as reducing the dopamine synthesis and/or release in mania and DAT blockade in bipolar depression. PMID:28289283

The assessment of personality disorders: implications for cognitive and behavior therapy.

PubMed

Van Velzen, C J; Emmelkamp, P M

1996-08-01

This article reviews the comorbidity of personality disorders (PDs) and Axis I disorders and discusses implications for assessment and treatment. Pros and cons of various assessment methods are discussed. The co-occurrence of PDs with Axis I disorders is considerable; roughly half of patients with anxiety disorders, depressive disorders or eating disorders received a PD diagnosis. Comorbidity models are discussed and implications for assessment and treatment are provided. Regarding the impact of PDs on cognitive-behavioral treatment outcome for Axis I disorders, conflicting results are found due to differences in assessment methods, treatment strategies, and patient samples. It is argued that additional Axis I pathology should be taken into account when studying the impact of PDs on treatment outcome for the target Axis I disorders. Finally, it is argued that the interpersonal behavior of the PD patient and the therapeutic relationship deserve more attention in the assessment and treatment of patients with PDs.

"A psychometric investigation of gender differences and common processes across borderline and antisocial personality disorders": Correction to Chun et al. (2017).

PubMed

2017-07-01

Reports an error in "A psychometric investigation of gender differences and common processes across borderline and antisocial personality disorders" by Seokjoon Chun, Alexa Harris, Margely Carrion, Elizabeth Rojas, Stephen Stark, Carl Lejuez, William V. Lechner and Marina A. Bornovalova ( Journal of Abnormal Psychology , 2017[Jan], Vol 126[1], 76-88). In the article, there were two errors in the article's supplemental material. The supplemental material stated, "In each case, if the relaxed model fit significantly better than the baseline model (i.e., Δ X ²> 3.84, Δ df =2), then the item under investigation was flagged as noninvariant; otherwise the item was marked as invariant." The value for Δ X ² should have been 5.99. The supplemental material also stated, "If there was no decrement in fit as a function of constraining a given item, the item in question was flagged as noninvariant." It should have stated that these items were flagged as invariant. The online version of this article has been corrected. (The following abstract of the original article appeared in record 2016-53090-001.) The comorbidity between borderline personality disorder (BPD) and antisocial personality disorder (ASPD) is well-established, and the 2 disorders share many similarities. However, there are also differences across disorders: most notably, BPD is diagnosed more frequently in women and ASPD in men. We investigated if (a) comorbidity between BPD and ASPD is attributable to 2 discrete disorders or the expression of common underlying processes, and (b) if the model of comorbidity is true across sex. Using a clinical sample of 1,400 drug users in residential substance abuse treatment, we tested 3 competing models to explore whether the comorbidity of ASPD and BPD should be represented by a single common factor, 2 correlated factors, or a bifactor structure involving a general and disorder-specific factors. Next, we tested whether our resulting model was meaningful by examining its relationship with criterion variables previously reported to be associated with BPD and ASPD. The bifactor model provided the best fit and was invariant across sex. Overall, the general factor of the bifactor model significantly accounted for a large percentage of the variance in criterion variables, whereas the BPD and AAB specific factors added little to the models. The association of the general and specific factor with all criterion variables was equal for men and women. Our results suggest common underlying vulnerability accounts for both the comorbidity between BPD and AAB (across sex), and this common vulnerability drives the association with other psychopathology and maladaptive behavior. This in turn has implications for diagnostic classification systems and treatment. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Eating disorders, normative eating self-efficacy and body image self-efficacy: women in recovery homes.

PubMed

Czarlinski, Jennifer A; Aase, Darrin M; Jason, Leonard A

2012-05-01

Although eating disorders (EDs) and ED symptoms are common among individuals in recovery for substance abuse (SA), long-term SA treatment programmes rarely address these problems. The present study examined the prevalence of EDs among women residing in Oxford Houses--low-cost, self-governed recovery homes for SA. Further, among women both with and without an ED diagnosis, the association between duration of Oxford House residency and eating-related self-efficacy scores was examined as an indicator of potential treatment effects on ED symptoms. During a telephone assessment, participants were administered the Structured Clinical Interview for DSM-IV-TR Axis I Disorders and the Eating Disorder Recovery Self-Efficacy Questionnaire. Results indicated that 12 of the 31 women analysed met criteria for an ED (bulimia nervosa, 2; ED not otherwise specified, 10). Differential findings were evident for eating-related self-efficacy measures depending on ED diagnostic status and duration of residency. Potential interpretations, limitations and implications are discussed. Copyright © 2011 John Wiley & Sons, Ltd and Eating Disorders Association.

Are Borderline Personality Symptoms Associated With Compulsive Sexual Behaviors Among Women in Treatment for Substance Use Disorders? An Exploratory Study

PubMed Central

Elmquist, JoAnna; Shorey, Ryan C.; Anderson, Scott; Stuart, Gregory L.

2016-01-01

Objective Extant literature has documented a significant relationship between borderline symptoms and substance use disorders. As supported in past work, there is a significant theoretical relationship between borderline symptoms and compulsive sexual behaviors because both disorders share common underlying behaviors and traits. There is no known research that has examined the empirical relationship between borderline symptoms and compulsive sexual behaviors in a population with substance use disorders. To fill this important gap in the literature, this relationship was examined in the current study. Method Medical records from 120 women admitted to a private, residential treatment program for substance use disorders were reviewed for the current study. Results Hierarchical multiple regression analysis demonstrated that borderline symptoms were significantly associated with compulsive sexual behaviors after controlling for alcohol use and problems, drug use and problems, age, and positive impression management. Conclusion Results from this study provide potentially important research and clinical implications, which could ultimately aid treatment and reduce relapse. However, continued research is needed to further examine the relationship between symptoms and compulsive sexual behaviors. PMID:27059090

Are Borderline Personality Symptoms Associated With Compulsive Sexual Behaviors Among Women in Treatment for Substance Use Disorders? An Exploratory Study.

PubMed

Elmquist, JoAnna; Shorey, Ryan C; Anderson, Scott; Stuart, Gregory L

2016-10-01

Extant literature has documented a significant relationship between borderline symptoms and substance use disorders. As supported in past work, there is a significant theoretical relationship between borderline symptoms and compulsive sexual behaviors because both disorders share common underlying behaviors and traits. There is no known research that has examined the empirical relationship between borderline symptoms and compulsive sexual behaviors in a population with substance use disorders. To fill this important gap in the literature, this relationship was examined in the current study. Medical records from 120 women admitted to a private, residential treatment program for substance use disorders were reviewed for the current study. Hierarchical multiple regression analysis demonstrated that borderline symptoms were significantly associated with compulsive sexual behaviors after controlling for alcohol use and problems, drug use and problems, age, and positive impression management. Results from this study provide potentially important research and clinical implications, which could ultimately aid treatment and reduce relapse. However, continued research is needed to further examine the relationship between symptoms and compulsive sexual behaviors. © 2016 Wiley Periodicals, Inc.

The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome.

PubMed

Uzunova, Genoveva; Hollander, Eric; Shepherd, Jason

2014-01-01

Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS.

Fanconi Anemia: A DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging.

PubMed

Brosh, Robert M; Bellani, Marina; Liu, Yie; Seidman, Michael M

2017-01-01

Fanconi Anemia (FA) is a rare autosomal genetic disorder characterized by progressive bone marrow failure (BMF), endocrine dysfunction, cancer, and other clinical features commonly associated with normal aging. The anemia stems directly from an accelerated decline of the hematopoietic stem cell compartment. Although FA is a complex heterogeneous disease linked to mutations in 19 currently identified genes, there has been much progress in understanding the molecular pathology involved. FA is broadly considered a DNA repair disorder and the FA gene products, together with other DNA repair factors, have been implicated in interstrand cross-link (ICL) repair. However, in addition to the defective DNA damage response, altered epigenetic regulation, and telomere defects, FA is also marked by elevated levels of inflammatory mediators in circulation, a hallmark of faster decline in not only other hereditary aging disorders but also normal aging. In this review, we offer a perspective of FA as a monogenic accelerated aging disorder, citing the latest evidence for its multi-factorial deficiencies underlying its unique clinical and cellular features. Published by Elsevier B.V.

Observer perspective imagery with stuttering.

PubMed

Lowe, Robyn; Menzies, Ross; Packman, Ann; O'Brian, Sue; Onslow, Mark

2015-01-01

Adults who stutter are at risk of developing a range of psychological conditions. Social anxiety disorder is the most common anxiety disorder associated with stuttering. Observer perspective imagery is one cognitive process involved in the maintenance of some anxiety disorders. This involves viewing images as if looking at the self from the perspective of another. In contrast, the field perspective involves looking out from the self at the surrounding environment. The purpose of this study was to assess the presence of observer perspective imagery with stuttering. The authors administered the Hackmann, Surawy and Clark (1998) semi-structured interview to 30 adults who stutter and 30 controls. Group images and impressions were compared for frequency, perspective recalled and emotional valence. The stuttering group was significantly more likely than controls to recall images and impressions from an observer rather than a field perspective for anxious situations. It is possible the present results could reflect the same attentional processing bias that occurs with anxiety disorders in the non-stuttering population. These preliminary results provide an explanation for the persistence of conditions such as social anxiety disorder with stuttering. Clinical implications are discussed.

Transgenic Mouse Models of Childhood Onset Psychiatric Disorders

PubMed Central

Robertson, Holly R.; Feng, Guoping

2011-01-01

Childhood onset psychiatric disorders, such as Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), Mood Disorders, Obsessive Compulsive Spectrum Disorders (OCSD), and Schizophrenia (SZ), affect many school age children leading to a lower quality of life, including difficulties in school and personal relationships that persists into adulthood. Currently, the causes of these psychiatric disorders are poorly understood resulting in difficulty diagnosing affected children, and insufficient treatment options. Family and twin studies implicate a genetic contribution for ADHD, ASD, Mood Disorders, OCSD, and SZ. Identification of candidate genes and chromosomal regions associated with a particular disorder provide targets for directed research, and understanding how these genes influence the disease state will provide valuable insights for improving the diagnosis and treatment of children with psychiatric disorders. Animal models are one important approach in the study of human diseases, allowing for the use of a variety of experimental approaches to dissect the contribution of a specific chromosomal or genetic abnormality in human disorders. While it is impossible to model an entire psychiatric disorder in a single animal model, these models can be extremely valuable in dissecting out the specific role of a gene, pathway, neuron subtype, or brain region in a particular abnormal behavior. In this review we discuss existing transgenic mouse models for childhood onset psychiatric disorders. We compare the strength and weakness of various transgenic animal models proposed for each of the common childhood onset psychiatric disorders, and discuss future directions for the study of these disorders using cutting-edge genetic tools. PMID:21309772

A review of cultural adaptations of screening tools for autism spectrum disorders.

PubMed

Soto, Sandra; Linas, Keri; Jacobstein, Diane; Biel, Matthew; Migdal, Talia; Anthony, Bruno J

2015-08-01

Screening children to determine risk for Autism Spectrum Disorders has become more common, although some question the advisability of such a strategy. The purpose of this systematic review is to identify autism screening tools that have been adapted for use in cultures different from that in which they were developed, evaluate the cultural adaptation process, report on the psychometric properties of the adapted instruments, and describe the implications for further research and clinical practice. A total of 21 articles met criteria for inclusion, reporting on the cultural adaptation of autism screening in 19 countries and in 10 languages. The cultural adaptation process was not always clearly outlined and often did not include the recommended guidelines. Cultural/linguistic modifications to the translated tools tended to increase with the rigor of the adaptation process. Differences between the psychometric properties of the original and adapted versions were common, indicating the need to obtain normative data on populations to increase the utility of the translated tool. © The Author(s) 2014.

Interaction between effects of genes coding for dopamine and glutamate transmission on striatal and parahippocampal function.

PubMed

Pauli, Andreina; Prata, Diana P; Mechelli, Andrea; Picchioni, Marco; Fu, Cynthia H Y; Chaddock, Christopher A; Kane, Fergus; Kalidindi, Sridevi; McDonald, Colm; Kravariti, Eugenia; Toulopoulou, Timothea; Bramon, Elvira; Walshe, Muriel; Ehlert, Natascha; Georgiades, Anna; Murray, Robin; Collier, David A; McGuire, Philip

2013-09-01

The genes for the dopamine transporter (DAT) and the D-Amino acid oxidase activator (DAOA or G72) have been independently implicated in the risk for schizophrenia and in bipolar disorder and/or their related intermediate phenotypes. DAT and G72 respectively modulate central dopamine and glutamate transmission, the two systems most robustly implicated in these disorders. Contemporary studies have demonstrated that elevated dopamine function is associated with glutamatergic dysfunction in psychotic disorders. Using functional magnetic resonance imaging we examined whether there was an interaction between the effects of genes that influence dopamine and glutamate transmission (DAT and G72) on regional brain activation during verbal fluency, which is known to be abnormal in psychosis, in 80 healthy volunteers. Significant interactions between the effects of G72 and DAT polymorphisms on activation were evident in the striatum, parahippocampal gyrus, and supramarginal/angular gyri bilaterally, the right insula, in the right pre-/postcentral and the left posterior cingulate/retrosplenial gyri (P < 0.05, FDR-corrected across the whole brain). This provides evidence that interactions between the dopamine and the glutamate system, thought to be altered in psychosis, have an impact in executive processing which can be modulated by common genetic variation. Copyright © 2012 Wiley Periodicals, Inc., a Wiley company.

Excitatory/inhibitory imbalance in autism spectrum disorders: Implications for interventions and therapeutics.

PubMed

Uzunova, Genoveva; Pallanti, Stefano; Hollander, Eric

2016-04-01

Imbalance between excitation and inhibition and increased excitatory-inhibitory (E-I) ratio is a common mechanism in autism spectrum disorders (ASD) that is responsible for the learning and memory, cognitive, sensory, motor deficits, and seizures occurring in these disorders. ASD are very heterogeneous and better understanding of E-I imbalance in brain will lead to better diagnosis and treatments. We perform a critical literature review of the causes and presentations of E-I imbalance in ASD. E-I imbalance in ASD is due primarily to abnormal glutamatergic and GABAergic neurotransmission in key brain regions such as neocortex, hippocampus, amygdala, and cerebellum. Other causes are due to dysfunction of neuropeptides (oxytocin), synaptic proteins (neuroligins), and immune system molecules (cytokines). At the neuropathological level E-I imbalance in ASD is presented as a "minicolumnopathy". E-I imbalance alters the manner by which the brain processes information and regulates behaviour. New developments for investigating E-I imbalance such as optogenetics and transcranial magnetic stimulation (TMS) are presented. Non-invasive brain stimulation methods such as TMS for treatment of the core symptoms of ASD are discussed. Understanding E-I imbalance has important implications for developing better pharmacological and behavioural treatments for ASD, including TMS, new drugs, biomarkers and patient stratification.

Binocular vision and eye movement disorders in older adults.

PubMed

Leat, Susan J; Chan, Lisa Li-Li; Maharaj, Priya-Devi; Hrynchak, Patricia K; Mittelstaedt, Andrea; Machan, Carolyn M; Irving, Elizabeth L

2013-05-31

To determine the prevalence of binocular vision (BV) and eye movement disorders in a clinic population of older adults. Retrospective clinic data were abstracted from files of 500 older patients seen at the University of Waterloo Optometry Clinic over a 1-year period. Stratified sampling gave equal numbers of patients in the 60 to 69, 70 to 79, and 80+ age groups. Data included age, general and ocular history and symptoms, use of antidepressants, a habit of smoking, refraction, visual acuity, BV and eye movement status for the most recent full oculo-visual assessment, and an assessment 10 years prior. The prevalence of any BV or eye movement abnormal test (AT) result, defined as a test result outside the normal range, was determined. This included strabismus (any) or phoria; incomitancy; poor pursuits; and remote near point of convergence (NPC). The prevalence of significant BV disorders (diagnostic entities, i.e., a clinical condition that may need treatment and may have functional implications) was also determined. The prevalence of any BV or eye movement at was 41%, 44%, and 51% in the 60 to 69, 70 to 79, and 80+ age groups, respectively. These figures were lower for 10 years earlier: 31%, 36%, and 40% for ages 50 to 59, 60 to 69, and 70+, respectively. The prevalence of any BV or eye movement disorder was 27%, 30%, and 38% for the three age groups and 17%, 19%, and 24% for 10 years prior. Age and use of antidepressants most commonly predicted BV or eye movement AT or disorder. BV disorders are common among older adults.

Epigenetics and memory: causes, consequences and treatments for post-traumatic stress disorder and addiction

PubMed Central

Pizzimenti, C. L.; Lattal, K. M.

2015-01-01

Understanding the interaction between fear and reward at the circuit and molecular levels has implications for basic scientific approaches to memory and for understanding the etiology of psychiatric disorders. Both stress and exposure to drugs of abuse induce epigenetic changes that result in persistent behavioral changes, some of which may contribute to the formation of a drug addiction or a stress-related psychiatric disorder. Converging evidence suggests that similar behavioral, neurobiological and molecular mechanisms control the extinction of learned fear and drug-seeking responses. This may, in part, account for the fact that individuals with post-traumatic stress disorder have a significantly elevated risk of developing a substance use disorder and have high rates of relapse to drugs of abuse, even after long periods of abstinence. At the behavioral level, a major challenge in treatments is that extinguished behavior is often not persistent, returning with changes in context, the passage of time or exposure to mild stressors. A common goal of treatments is therefore to weaken the ability of stressors to induce relapse. With the discovery of epigenetic mechanisms that create persistent molecular signals, recent work on extinction has focused on how modulating these epigenetic targets can create lasting extinction of fear or drug-seeking behavior. Here, we review recent evidence pointing to common behavioral, systems and epigenetic mechanisms in the regulation of fear and drug seeking. We suggest that targeting these mechanisms in combination with behavioral therapy may promote treatment and weaken stress-induced relapse. PMID:25560936

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

PubMed

Burrage, Lindsay C; Jain, Mahim; Gandolfo, Laura; Lee, Brendan H; Nagamani, Sandesh C S

2014-01-01

Sodium phenylbutyrate (NaPBA) is a commonly used medication for the treatment of patients with urea cycle disorders (UCDs). Previous reports involving small numbers of patients with UCDs have shown that NaPBA treatment can result in lower plasma levels of the branched-chain amino acids (BCAA) but this has not been studied systematically. From a large cohort of patients (n=553) with UCDs enrolled in the Longitudinal Study of Urea Cycle Disorders, a collaborative multicenter study of the Urea Cycle Disorders Consortium, we evaluated whether treatment with NaPBA leads to a decrease in plasma BCAA levels. Our analysis shows that NaPBA use independently affects the plasma BCAA levels even after accounting for multiple confounding covariates. Moreover, NaPBA use increases the risk for BCAA deficiency. This effect of NaPBA seems specific to plasma BCAA levels, as levels of other essential amino acids are not altered by its use. Our study, in an unselected population of UCD subjects, is the largest to analyze the effects of NaPBA on BCAA metabolism and potentially has significant clinical implications. Our results indicate that plasma BCAA levels should to be monitored in patients treated with NaPBA since patients taking the medication are at increased risk for BCAA deficiency. On a broader scale, these findings could open avenues to explore NaPBA as a therapy in maple syrup urine disease and other common complex disorders with dysregulation of BCAA metabolism. Copyright © 2014 Elsevier Inc. All rights reserved.

Sodium Phenylbutyrate Decreases Plasma Branched-Chain Amino Acids in Patients with Urea Cycle Disorders

PubMed Central

Burrage, Lindsay C.; Jain, Mahim; Gandolfo, Laura; Lee, Brendan H.; Nagamani, Sandesh CS.

2014-01-01

Sodium phenylbutyrate (NaPBA) is a commonly used medication for the treatment of patients with urea cycle disorders (UCDs). Previous reports involving small numbers of patients with UCDs have shown that NaPBA treatment can result in lower plasma levels of the branched-chain amino acids (BCAA) but this has not been studied systematically. From a large cohort of patients (n=553) with UCDs enrolled in Longitudinal Study of Urea Cycle Disorders, a collaborative multicenter study of the Urea Cycle Disorders Consortium, we evaluated whether treatment with NaPBA leads to a decrease in plasma BCAA levels. Our analysis shows that NaPBA use independently affects the plasma BCAA levels even after accounting for multiple confounding covariates. Moreover, NaPBA use increases the risk for BCAA deficiency. This effect of NaPBA seems specific to plasma BCAA levels, as levels of other essential amino acids are not altered by its use. Our study, in an unselected population of UCD subjects, is the largest to analyze the effects of NaPBA on BCAA metabolism and potentially has significant clinical implications. Our results indicate that plasma BCAA levels should to be monitored in patients treated with NaPBA since patients taking the medication are at increased risk for BCAA deficiency. On a broader scale, they could open avenues to explore NaPBA as a therapy in maple syrup urine disease and other common complex disorders with dysregulation of BCAA metabolism. PMID:25042691

Common Functional Gastroenterological Disorders Associated With Abdominal Pain.

PubMed

Bharucha, Adil E; Chakraborty, Subhankar; Sletten, Christopher D

2016-08-01

Although abdominal pain is a symptom of several structural gastrointestinal disorders (eg, peptic ulcer disease), this comprehensive review will focus on the 4 most common nonstructural, or functional, disorders associated with abdominal pain: functional dyspepsia, constipation-predominant and diarrhea-predominant irritable bowel syndrome, and functional abdominal pain syndrome. Together, these conditions affect approximately 1 in 4 people in the United States. They are associated with comorbid conditions (eg, fibromyalgia and depression), impaired quality of life, and increased health care utilization. Symptoms are explained by disordered gastrointestinal motility and sensation, which are implicated in various peripheral (eg, postinfectious inflammation and luminal irritants) and/or central (eg, stress and anxiety) factors. These disorders are defined and can generally be diagnosed by symptoms alone. Often prompted by alarm features, selected testing is useful to exclude structural disease. Identifying the specific diagnosis (eg, differentiating between functional abdominal pain and irritable bowel syndrome) and establishing an effective patient-physician relationship are the cornerstones of therapy. Many patients with mild symptoms can be effectively managed with limited tests, sensible dietary modifications, and over-the-counter medications tailored to symptoms. If these measures are not sufficient, pharmacotherapy should be considered for bowel symptoms (constipation or diarrhea) and/or abdominal pain; opioids should not be used. Behavioral and psychological approaches (eg, cognitive behavioral therapy) can be helpful, particularly in patients with chronic abdominal pain who require a multidisciplinary pain management program without opioids. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Personality organization in borderline patients with a history of suicide attempts.

PubMed

Baus, Nicole; Fischer-Kern, Melitta; Naderer, Andrea; Klein, Jakob; Doering, Stephan; Pastner, Barbara; Leithner-Dziubas, Katharina; Plener, Paul L; Kapusta, Nestor D

2014-08-15

Suicide attempts (SA) are common in patients with Borderline Personality Disorder (BPD). Recent studies focus on aspects of personality associated with risk for SA such as deficits in affect regulation including impulse control and aggression. The current study examines associations of dysfunctional personality organization, psychiatric comorbidities as well as non-suicidal self-injury (NSSI) with SA in a sample of 68 BPD outpatients. Patients with a history of SA yielded higher scores in personality domains of aggression, especially self-directed aggression. Further, a history of SA was associated with a worse general level of personality organization and a higher prevalence rate of NSSI and substance abuse disorder. The results demonstrate that SA in BPD patients might be regarded as a manifestation of impaired personality functioning rather than mere state variables and symptoms. Moreover, these findings might have implications for indication, treatment, and prognosis of Borderline Personality Disorder. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Major depressive disorder, cognitive symptoms, and neuropsychological performance among ethnically diverse HIV+ men and women.

PubMed

Fellows, Robert P; Byrd, Desiree A; Morgello, Susan

2013-02-01

Major depressive disorder (MDD), cognitive symptoms, and mild cognitive deficits commonly occur in HIV-infected individuals, despite highly active antiretroviral therapies. In this study, we compared neuropsychological performance and cognitive symptoms of 191 HIV-infected participants. Results indicated that participants with a formal diagnosis of current MDD performed significantly worse than participants without MDD in all seven neuropsychological domains evaluated, with the largest effect sizes in information processing speed, learning, and memory. In addition, a brief assessment of cognitive symptoms, derived from a comprehensive neuromedical interview, correlated significantly with neurocognitive functioning. Participants with MDD reported more cognitive symptoms and showed greater neurocognitive deficits than participants without MDD. These findings indicate that HIV-infected adults with MDD have more cognitive symptoms and worse neuropsychological performance than HIV-infected individuals without MDD. The results of this study have important implications for the diagnosis of HIV-associated neurocognitive disorders (HAND).

Gender Identity and Autism Spectrum Disorders

PubMed Central

van Schalkwyk, Gerrit I.; Klingensmith, Katherine; Volkmar, Fred R.

2015-01-01

In this review, we briefly summarize much of the existing literature on gender-related concerns and autism spectrum disorders (ASD), drawing attention to critical shortcomings in our current understanding and potential clinical implications. Some authors have concluded that gender identity disorder (GID), or gender dysphoria (GD), is more common in individuals with ASD, providing a range of potential explanations. However, existing literature is quantitatively limited, and our capacity to draw conclusions is further complicated by conceptual challenges regarding how gender identity is best understood. Discourses that emphasize gender as a component of identity formation are gaining prominence and seem particularly salient when applied to ASD. Individuals with ASD should enjoy equal rights with regard to treatment for gender dysphoria. Clinicians may be able to assist individuals in understanding this aspect of their identity by broadening the social frame and facilitating an exploration of gender roles. PMID:25744543

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

PubMed Central

Smits, Paulien; Smeitink, Jan; van den Heuvel, Lambert

2010-01-01

Mitochondrial disorders are a heterogeneous group of often multisystemic and early fatal diseases, which are amongst the most common inherited human diseases. These disorders are caused by defects in the oxidative phosphorylation (OXPHOS) system, which comprises five multisubunit enzyme complexes encoded by both the nuclear and the mitochondrial genomes. Due to the multitude of proteins and intricacy of the processes required for a properly functioning OXPHOS system, identifying the genetic defect that underlies an OXPHOS deficiency is not an easy task, especially in the case of combined OXPHOS defects. In the present communication we give an extensive overview of the proteins and processes (in)directly involved in mitochondrial translation and the biogenesis of the OXPHOS system and their roles in combined OXPHOS deficiencies. This knowledge is important for further research into the genetic causes, with the ultimate goal to effectively prevent and cure these complex and often devastating disorders. PMID:20396601

[Legal aspects of hyperkinetic disorders/ADHD].

PubMed

Hässler, F; Reis, O; Buchmann, J; Bohne-Suraj, S

2008-07-01

With a prevalence of 2-6%, hyperkinetic disorders (F 90, ICD-10) and disturbances of activity and attention (F 90.0, ADHD, ICD-10) are among the psychiatric disorders most commonly diagnosed in children, adolescents, and adults. Children and adolescents diagnosed with ADHD suffer from hyperactivity and deficits in attention and impulse control. Adults usually have problems focusing on one goal, maintaining their attention, modulating emotions effectively, structuring their tasks, and controlling impulses and in executive functions. Legal implications derive from core symptoms and from treatment with stimulants governed by legislation on narcotics. This paper discusses juridical aspects of ADHD in connection with the administration of medication at school, trips abroad within and outside the Schengen area, driving, competitive sports, military service, the increased risk of delinquency, the individual capacity to incur criminal responsibility, developmental criteria for the ability to act responsibly, and modalities for withdrawal treatment or treatment during detention.

Clinicians’ Personal Theories of Developmental Disorders Explain Their Judgments of Effectiveness of Interventions

PubMed Central

de Kwaadsteniet, Leontien; Hagmayer, York

2017-01-01

Evidence-based psychotherapy requires clinicians to consider theories of psychopathology and evidence about effectiveness, and their experience when choosing interventions. Research on clinical decision making indicates that clinicians’ theories of disorders might be personal and inform judgments and choices beyond current scientific theory and evidence. We asked 20 child therapists to draw models of how they believed that biological, psychological, environmental, and behavioral factors interact to cause and maintain four common developmental disorders. They were also asked to judge the effectiveness of interventions recommended in the literature. Therapists showed only fair agreement about the factors and a slight to fair agreement about the causal relations between these, and just fair agreement about interventions’ effectiveness. Despite these disagreements, we could predict effectiveness judgments from therapists’ personal theories, which indicates that clinicians use personal theories in decision making. We discuss the implications of these findings for evidence-based practice. PMID:29527408

Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.

PubMed

Veatch, Olivia J; Pendergast, Julie S; Allen, Melissa J; Leu, Roberta M; Johnson, Carl Hirschie; Elsea, Sarah H; Malow, Beth A

2015-01-01

Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r(2) = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes.

Illusory Obesity Triggers Body Dissatisfaction Responses in the Insula and Anterior Cingulate Cortex

PubMed Central

Preston, Catherine; Ehrsson, H. Henrik

2016-01-01

In today's Western society, concerns regarding body size and negative feelings toward one's body are all too common. However, little is known about the neural mechanisms underlying negative feelings toward the body and how they relate to body perception and eating-disorder pathology. Here, we used multisensory illusions to elicit illusory ownership of obese and slim bodies during functional magnetic resonance imaging. The results implicate the anterior insula and the anterior cingulate cortex in the development of negative feelings toward the body through functional interactions with the posterior parietal cortex, which mediates perceived obesity. Moreover, cingulate neural responses were modulated by nonclinical eating-disorder psychopathology and were attenuated in females. These results reveal how perceptual and affective body representations interact in the human brain and may help explain the neurobiological underpinnings of eating-disorder vulnerability in women. PMID:27733537

Constipation in intensive care unit: incidence and risk factors.

PubMed

Nassar, Antonio Paulo; da Silva, Fernanda Maria Queiroz; de Cleva, Roberto

2009-12-01

Although gastrointestinal motility disorders are common in critically ill patients, constipation and its implications have received very little attention. We aimed to determine the incidence of constipation to find risk factors and its implications in critically ill patients During a 6-month period, we enrolled all patients admitted to an intensive care unit from an universitary hospital who stayed 3 or more days. Patients submitted to bowel surgery were excluded. Constipation occurred in 69.9% of the patients. There was no difference between constipated and not constipated in terms of sex, age, Acute Physiology and Chronic Health Evaluation II, type of admission (surgical, clinical, or trauma), opiate use, antibiotic therapy, and mechanical ventilation. Early (<24 hours) enteral nutrition was associated with less constipation, a finding that persisted at multivariable analysis (P < .01). Constipation was not associated with greater intensive care unit or mortality, length of stay, or days free from mechanical ventilation. Constipation is very common among critically ill patients. Early enteral nutrition is associated with earlier return of bowel function.

Depression, comorbid anxiety disorders, and heart rate variability in physically healthy, unmedicated patients: implications for cardiovascular risk.

PubMed

Kemp, Andrew H; Quintana, Daniel S; Felmingham, Kim L; Matthews, Slade; Jelinek, Herbert F

2012-01-01

There is evidence that heart rate variability (HRV) is reduced in major depressive disorder (MDD), although there is debate about whether this effect is caused by medication or the disorder per se. MDD is associated with a two to fourfold increase in the risk of cardiac mortality, and HRV is a robust predictor of cardiac mortality; determining a direct link between HRV and not only MDD, but common comorbid anxiety disorders, will point to psychiatric indicators for cardiovascular risk reduction. To determine in physically healthy, unmedicated patients whether (1) HRV is reduced in MDD relative to controls, and (2) HRV reductions are driven by MDD alone, comorbid generalized anxiety disorder (GAD, characterized by anxious anticipation), or comorbid panic and posttraumatic stress disorders (PD/PTSD, characterized by anxious arousal). A case-control study in 2006 and 2007 on 73 MDD patients, including 24 without anxiety comorbidity, 24 with GAD, and 14 with PD/PTSD. Seventy-three MDD and 94 healthy age- and sex-matched control participants were recruited from the general community. Participants had no history of drug addiction, alcoholism, brain injury, loss of consciousness, stroke, neurological disorder, or serious medical conditions. There were no significant differences between the four groups in age, gender, BMI, or alcohol use. HRV was calculated from electrocardiography under a standardized short-term resting state condition. HRV was reduced in MDD relative to controls, an effect associated with a medium effect size. MDD participants with comorbid generalized anxiety disorder displayed the greatest reductions in HRV relative to controls, an effect associated with a large effect size. Unmedicated, physically healthy MDD patients with and without comorbid anxiety had reduced HRV. Those with comorbid GAD showed the greatest reductions. Implications for cardiovascular risk reduction strategies in otherwise healthy patients with psychiatric illness are discussed.

Neurogenetic interactions and aberrant behavioral co-morbidity of attention deficit hyperactivity disorder (ADHD): dispelling myths

PubMed Central

Comings, David E; Chen, Thomas JH; Blum, Kenneth; Mengucci, Julie F; Blum, Seth H; Meshkin, Brian

2005-01-01

Background Attention Deficit Hyperactivity Disorder, commonly referred to as ADHD, is a common, complex, predominately genetic but highly treatable disorder, which in its more severe form has such a profound effect on brain function that every aspect of the life of an affected individual may be permanently compromised. Despite the broad base of scientific investigation over the past 50 years supporting this statement, there are still many misconceptions about ADHD. These include believing the disorder does not exist, that all children have symptoms of ADHD, that if it does exist it is grossly over-diagnosed and over-treated, and that the treatment is dangerous and leads to a propensity to drug addiction. Since most misconceptions contain elements of truth, where does the reality lie? Results We have reviewed the literature to evaluate some of the claims and counter-claims. The evidence suggests that ADHD is primarily a polygenic disorder involving at least 50 genes, including those encoding enzymes of neurotransmitter metabolism, neurotransmitter transporters and receptors. Because of its polygenic nature, ADHD is often accompanied by other behavioral abnormalities. It is present in adults as well as children, but in itself it does not necessarily impair function in adult life; associated disorders, however, may do so. A range of treatment options is reviewed and the mechanisms responsible for the efficacy of standard drug treatments are considered. Conclusion The genes so far implicated in ADHD account for only part of the total picture. Identification of the remaining genes and characterization of their interactions is likely to establish ADHD firmly as a biological disorder and to lead to better methods of diagnosis and treatment. PMID:16375770

Eating disorders in children: is avoidant-restrictive food intake disorder a feeding disorder or an eating disorder and what are the implications for treatment?

PubMed

Kennedy, Grace A; Wick, Madeline R; Keel, Pamela K

2018-01-01

Avoidant-restrictive food intake disorder (ARFID) is a current diagnosis in the "Feeding and Eating Disorders" section of the Diagnostic and Statistical Manual of Mental Disorders (fifth edition) and captures a heterogeneous presentation of eating disturbances. In recent years, ARFID has been studied primarily within the context of eating disorders despite having historical roots as a feeding disorder. The following review examines ARFID's similarities with and differences from feeding disorders and eating disorders, focusing on research published within the last three years. Implications of this differentiation for treatment are discussed.

The Australian Defence Force Mental Health Prevalence and Wellbeing Study: design and methods

PubMed Central

Hooff, Miranda Van; McFarlane, Alexander C.; Davies, Christopher E.; Searle, Amelia K.; Fairweather-Schmidt, A. Kate; Verhagen, Alan; Benassi, Helen; Hodson, Stephanie E.

2014-01-01

Background The Australian Defence Force (ADF) Mental Health Prevalence and Wellbeing Study (MHPWS) is the first study of mental disorder prevalence in an entire military population. Objective The MHPWS aims to establish mental disorder prevalence, refine current ADF mental health screening methods, and identify specific occupational factors that influence mental health. This paper describes the design, sampling strategies, and methodology used in this study. Method At Phase 1, approximately half of all regular Navy, Army, and Air Force personnel (n=24,481) completed self-report questionnaires. At Phase 2, a stratified sub-sample (n=1,798) completed a structured diagnostic interview to detect mental disorder. Based on data from non-responders, data were weighted to represent the entire ADF population (n=50,049). Results One in five ADF members met criteria for a 12-month mental disorder (22%). The most common disorder category was anxiety disorders (14.8%), followed by affective (9.5%) and alcohol disorders (5.2%). At risk ADF sub-groups were Army personnel, and those in the lower ranks. Deployment status did not have an impact on mental disorder rates. Conclusion This study has important implications for mental health service delivery for Australian and international military personnel as well as contemporary veterans. PMID:25206944

Clinical applications and implications of common and founder mutations in Indian subpopulations.

PubMed

Ankala, Arunkanth; Tamhankar, Parag M; Valencia, C Alexander; Rayam, Krishna K; Kumar, Manisha M; Hegde, Madhuri R

2015-01-01

South Asian Indians represent a sixth of the world's population and are a racially, geographically, and genetically diverse people. Their unique anthropological structure, prevailing caste system, and ancient religious practices have all impacted the genetic composition of most of the current-day Indian population. With the evolving socio-religious and economic activities of the subsects and castes, endogamous and consanguineous marriages became a commonplace. Consequently, the frequency of founder mutations and the burden of heritable genetic disorders rose significantly. Specifically, the incidence of certain autosomal-recessive disorders is relatively high in select Indian subpopulations and communities that share common recent ancestry. Although today clinical genetics and molecular diagnostic services are making inroads in India, the high costs associated with the technology and the tests often keep patients from an exact molecular diagnosis, making more customized and tailored tests, such as those interrogating the most common and founder mutations or those that cater to select sects within the population, highly attractive. These tests offer a quick first-hand affordable diagnostic and carrier screening tool. Here, we provide a comprehensive catalog of known common mutations and founder mutations in the Indian population and discuss them from a molecular, clinical, and historical perspective. © 2014 WILEY PERIODICALS, INC.

Physical Activity Modulates Common Neuroplasticity Substrates in Major Depressive and Bipolar Disorder.

PubMed

Phillips, Cristy

2017-01-01

Mood disorders (MDs) are chronic, recurrent mental diseases that affect millions of individuals worldwide. Although the biogenic amine model has provided some clinical utility, a need remains to better understand the interrelated mechanisms that contribute to neuroplasticity deficits in MDs and the means by which various therapeutics mitigate them. Of those therapeutics being investigated, physical activity (PA) has shown clear and consistent promise. Accordingly, the aims of this review are to (1) explicate key modulators, processes, and interactions that impinge upon multiple susceptibility points to effectuate neuroplasticity deficits in MDs; (2) explore the putative mechanisms by which PA mitigates these features; (3) review protocols used to induce the positive effects of PA in MDs; and (4) highlight implications for clinicians and researchers.

Integrating feminist and psychodynamic principles in the treatment of an eating disorder patient: implications for using countertransference responses.

PubMed

Zerbe, K J

1995-01-01

Patients who struggle with a tenacious eating disorder commonly stir strong countertransference feelings in therapists. The author describes a patient who for a number of years had been unresponsive to traditional treatment interventions for anorexia nervosa and bulimic tendencies. By combining principles derived from psychodynamic treatment and contemporary feminist thought, the therapist was gradually able to help the patient engage in the treatment process. Managing a variety of strong countertransference feelings was instrumental to the process. The author underscores the need for patients to take greater personal responsibility, develop self-critical and self-analytical capacities, learn to embrace contradictions in the self, and disavow the tendency to harbor fantasies of utopia, perfection, and "cure."

The effect of parent involvement in the treatment of anxiety disorders in children: a meta-analysis.

PubMed

Thulin, Ulrika; Svirsky, Liv; Serlachius, Eva; Andersson, Gerhard; Ost, Lars-Göran

2014-01-01

Among clinicians, it is common practice to include parents in treatment, and it has been taken for granted that parents' involvement in their children's treatment is beneficial for therapy outcome, although research on this issue is far from clear. A meta-analysis was carried out in order to investigate whether parent involvement potentiates the outcome for children with anxiety disorders when treated with cognitive-behavior therapy. Sixteen studies, which directly compared parent-involved treatments with child-only treatments, were included in the meta-analysis. The results showed a small, nonsignificant effect size of - 0.10 in favor of the child-only treatments. There was no indication of publication bias in the analysis. Implications of the results are discussed.

Treatment implications of high-resolution manometry findings: options for patients with esophageal dysmotility.

PubMed

Bolkhir, Ahmed; Gyawali, C Prakash

2014-03-01

High-resolution manometry (HRM) has significantly impacted diagnosis and management of achalasia in particular, and has improved characterization of other motor disorders. Achalasia, the most profound esophageal motor disorder, is characterized by esophageal outflow obstruction from abnormal relaxation of the lower esophageal sphincter (LES) during swallowing, and presents with transit symptoms (dysphagia, regurgitation). Esophageal body motor disorders include both inhibitory nerve dysfunction associated with hypermotility or spasm, and hypomotility disorders with poor contraction. The implications of hypermotility disorders are both perceptive and obstructive. On the other hand, hypomotility disorders have reflux implications because of abnormal barrier function at the LES, and abnormal bolus clearance. Esophageal outflow obstruction in achalasia responds favorably to disruption of the LES, and outcome may be predicted by HRM subtyping of achalasia. Identification of dominant (perceptive vs. obstructive) mechanisms of symptom generation help direct therapy of hypermotility disorders, while hypomotility disorders typically require management of concurrent reflux disease.

Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

PubMed

Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura

2017-12-01

Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct diagnosis and appropriate management.

Adenosine signaling in striatal circuits and alcohol use disorders.

PubMed

Nam, Hyung Wook; Bruner, Robert C; Choi, Doo-Sup

2013-09-01

Adenosine signaling has been implicated in the pathophysiology of alcohol use disorders and other psychiatric disorders such as anxiety and depression. Numerous studies have indicated a role for A1 receptors (A1R) in acute ethanol-induced motor incoordination, while A2A receptors (A2AR) mainly regulate the rewarding effect of ethanol in mice. Recent findings have demonstrated that dampened A2AR-mediated signaling in the dorsomedial striatum (DMS) promotes ethanol-seeking behaviors. Moreover, decreased A2AR function is associated with decreased CREB activity in the DMS, which enhances goal-oriented behaviors and contributes to excessive ethanol drinking in mice. Interestingly, caffeine, the most commonly used psychoactive substance, is known to inhibit both the A1R and A2AR. This dampened adenosine receptor function may mask some of the acute intoxicating effects of ethanol. Furthermore, based on the fact that A2AR activity plays a role in goal-directed behavior, caffeine may also promote ethanol-seeking behavior. The A2AR is enriched in the striatum and exclusively expressed in striatopallidal neurons, which may be responsible for the regulation of inhibitory behavioral control over drug rewarding processes through the indirect pathway of the basal ganglia circuit. Furthermore, the antagonistic interactions between adenosine and dopamine receptors in the striatum also play an integral role in alcoholism and addiction-related disorders. This review focuses on regulation of adenosine signaling in striatal circuits and the possible implication of caffeine in goal-directed behaviors and addiction.

Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder.

PubMed

Mosconi, Matthew W; Mohanty, Suman; Greene, Rachel K; Cook, Edwin H; Vaillancourt, David E; Sweeney, John A

2015-02-04

Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and among the earliest manifestations of the disorder. They have been studied far less than the social-communication and cognitive deficits that define ASD, but a mechanistic understanding of sensorimotor abnormalities in ASD may provide key insights into the neural underpinnings of the disorder. In this human study, we examined rapid, precision grip force contractions to determine whether feedforward mechanisms supporting initial motor output before sensory feedback can be processed are disrupted in ASD. Sustained force contractions also were examined to determine whether reactive adjustments to ongoing motor behavior based on visual feedback are altered. Sustained force was studied across multiple force levels and visual gains to assess motor and visuomotor mechanisms, respectively. Primary force contractions of individuals with ASD showed greater peak rate of force increases and large transient overshoots. Individuals with ASD also showed increased sustained force variability that scaled with force level and was more severe when visual gain was highly amplified or highly degraded. When sustaining a constant force level, their reactive adjustments were more periodic than controls, and they showed increased reliance on slower feedback mechanisms. Feedforward and feedback mechanism alterations each were associated with more severe social-communication impairments in ASD. These findings implicate anterior cerebellar circuits involved in feedforward motor control and posterior cerebellar circuits involved in transforming visual feedback into precise motor adjustments in ASD. Copyright © 2015 the authors 0270-6474/15/352015-11$15.00/0.

Role of Altered mGluR Activity in Cognitive Impairments in TSC: Implications for a Novel Method of Treatment

DTIC Science & Technology

2012-04-01

defining factor. The most common clinical features are mental retardation, epilepsy, autism , anxiety and mood disorders. Fragile X syndrome (FXS...another form of inherited mental retardation and autism , shares many of the same molecular and clinical features as TSC. Much of the pathophysiology in FXS...modulation of mGluR activity with PAMs may serve as a therapeutic intervention for the treatment of TSC. 15. SUBJECT TERMS autism , Tuberous Sclerosis

Exploring Symmetry to Assist Alzheimer's Disease Diagnosis

NASA Astrophysics Data System (ADS)

Illán, I. A.; Górriz, J. M.; Ramírez, J.; Salas-Gonzalez, D.; López, M.; Padilla, P.; Chaves, R.; Segovia, F.; Puntonet, C. G.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder first affecting memory functions and then gradually affecting all cognitive functions with behavioral impairments and eventually causing death. Functional brain imaging as Single-Photon Emission Computed Tomography (SPECT) is commonly used to guide the clinician's diagnosis. The essential left-right symmetry of human brains is shown to play a key role in coding and recognition. In the present work we explore the implications of this symmetry in AD diagnosis, showing that recognition may be enhanced when considering this latent symmetry.

Antarctica Meta-Analysis: Psychosocial Factors Related to Long Duration Isolation and Confinement

NASA Technical Reports Server (NTRS)

Leveton, Lauren; Shea, Camille; Slack, Kelley J.; Keeton, Kathryn E.; Palinkas, Lawrence A.

2009-01-01

This meta-analysis is examining the psychological effects of wintering-over in Antarctica. As an isolated, confined, and extreme (ICE) environment, Antarctica provides invaluable opportunities to experience stressors more common to spaceflight than to the average person s everyday life. Increased prevalence of psychological symptoms, syndromes, and psychiatric disorders, as well as positive effects, are expected to be associated with various demographic and environmental factors. Implications for spaceflight are discussed. Findings from statistical review of the Antarctic articles will be shared.

Eating disorders in children: is avoidant-restrictive food intake disorder a feeding disorder or an eating disorder and what are the implications for treatment?

PubMed Central

Kennedy, Grace A.; Wick, Madeline R.; Keel, Pamela K.

2018-01-01

Avoidant-restrictive food intake disorder (ARFID) is a current diagnosis in the “Feeding and Eating Disorders” section of the Diagnostic and Statistical Manual of Mental Disorders (fifth edition) and captures a heterogeneous presentation of eating disturbances. In recent years, ARFID has been studied primarily within the context of eating disorders despite having historical roots as a feeding disorder. The following review examines ARFID’s similarities with and differences from feeding disorders and eating disorders, focusing on research published within the last three years. Implications of this differentiation for treatment are discussed. PMID:29399331

Mechanisms of Stress-Induced Visceral Pain: Implications in Irritable Bowel Syndrome.

PubMed

Greenwood-Van Meerveld, B; Moloney, R D; Johnson, A C; Vicario, M

2016-08-01

Visceral pain is a term describing pain originating from the internal organs of the body and is a common feature of many disorders, including irritable bowel syndrome (IBS). Stress is implicated in the development and exacerbation of many visceral pain disorders. Recent evidence suggests that stress and the gut microbiota can interact through complementary or opposing factors to influence visceral nociceptive behaviours. The Young Investigator Forum at the International Society of Psychoneuroendocrinology (ISPNE) annual meeting reported experimental evidence suggesting the gut microbiota can affect the stress response to affect visceral pain. Building upon human imaging data showing abnormalities in the central processing of visceral stimuli in patients with IBS and knowledge that the amygdala plays a pivotal role in facilitating the stress axis, the latest experimental evidence supporting amygdala-mediated mechanisms in stress-induced visceral pain was reviewed. The final part of the session at ISPNE reviewed experimental evidence suggesting that visceral pain in IBS may be a result, at least in part, of afferent nerve sensitisation following increases in epithelial permeability and mucosal immune activation. © 2016 British Society for Neuroendocrinology.

The influence of mood on memories of parental rearing practices.

PubMed

Gerlsma, C; Kramer, J J; Scholing, A; Emmelkamp, P M

1994-05-01

Parental rearing styles are often found to be related to adult psychological disorders. In general, conclusions are based on the data of retrospective studies, in which patients' memories of their parents' behaviour are investigated. However, it has been widely recognized that memories may be sensitive to current mood states. The possible mood sensitivity of autobiographic memories is a powerful alternative explanation of the relationship commonly found between parental rearing styles and psychopathology, with implications for the hypothesis of early parenting as a vulnerability factor in the aetiology of such disorders. The present study examined whether memories of parental rearing styles are influenced by present mood. To this aim, both mood and memories of parental rearing styles were assessed on two occasions in a sample of 315 healthy subjects from the general community (Study 1) and in a group of 46 socially phobic patients (Study 2). Results showed that memories of early parenting remained quite stable, even in the face of significant and considerable changes in anxiety, depression, and hostility. The theoretical and practical implications of these findings are discussed.

The established and emerging roles of astrocytes and microglia in amyotrophic lateral sclerosis and frontotemporal dementia.

PubMed

Radford, Rowan A; Morsch, Marco; Rayner, Stephanie L; Cole, Nicholas J; Pountney, Dean L; Chung, Roger S

2015-01-01

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two progressive, fatal neurodegenerative syndromes with considerable clinical, genetic and pathological overlap. Clinical symptoms of FTD can be seen in ALS patients and vice versa. Recent genetic discoveries conclusively link the two diseases, and several common molecular players have been identified (TDP-43, FUS, C9ORF72). The definitive etiologies of ALS and FTD are currently unknown and both disorders lack a cure. Glia, specifically astrocytes and microglia are heavily implicated in the onset and progression of neurodegeneration witnessed in ALS and FTD. In this review, we summarize the current understanding of the role of microglia and astrocytes involved in ALS and FTD, highlighting their recent implications in neuroinflammation, alterations in waste clearance involving phagocytosis and the newly described glymphatic system, and vascular abnormalities. Elucidating the precise mechanisms of how astrocytes and microglia are involved in ALS and FTD will be crucial in characterizing these two disorders and may represent more effective interventions for disease progression and treatment options in the future.

Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.

PubMed

Nolan, Danielle; Carlson, Martha

2016-06-01

Genetic heterogeneity in neurologic disorders has been an obstacle to phenotype-based diagnostic testing. The authors hypothesized that information compiled via whole exome sequencing will improve clinical diagnosis and management of pediatric neurology patients. The authors performed a retrospective chart review of patients evaluated in the University of Michigan Pediatric Neurology clinic between 6/2011 and 6/2015. The authors recorded previous diagnostic testing, indications for whole exome sequencing, and whole exome sequencing results. Whole exome sequencing was recommended for 135 patients and obtained in 53 patients. Insurance barriers often precluded whole exome sequencing. The most common indication for whole exome sequencing was neurodevelopmental disorders. Whole exome sequencing improved the presumptive diagnostic rate in the patient cohort from 25% to 48%. Clinical implications included family planning, medication selection, and systemic investigation. Compared to current second tier testing, whole exome sequencing can result in lower long-term charges and more timely diagnosis. Overcoming barriers related to whole exome sequencing insurance authorization could allow for more efficient and fruitful diagnostic neurological evaluations. © The Author(s) 2016.

The established and emerging roles of astrocytes and microglia in amyotrophic lateral sclerosis and frontotemporal dementia

PubMed Central

Radford, Rowan A.; Morsch, Marco; Rayner, Stephanie L.; Cole, Nicholas J.; Pountney, Dean L.; Chung, Roger S.

2015-01-01

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two progressive, fatal neurodegenerative syndromes with considerable clinical, genetic and pathological overlap. Clinical symptoms of FTD can be seen in ALS patients and vice versa. Recent genetic discoveries conclusively link the two diseases, and several common molecular players have been identified (TDP-43, FUS, C9ORF72). The definitive etiologies of ALS and FTD are currently unknown and both disorders lack a cure. Glia, specifically astrocytes and microglia are heavily implicated in the onset and progression of neurodegeneration witnessed in ALS and FTD. In this review, we summarize the current understanding of the role of microglia and astrocytes involved in ALS and FTD, highlighting their recent implications in neuroinflammation, alterations in waste clearance involving phagocytosis and the newly described glymphatic system, and vascular abnormalities. Elucidating the precise mechanisms of how astrocytes and microglia are involved in ALS and FTD will be crucial in characterizing these two disorders and may represent more effective interventions for disease progression and treatment options in the future. PMID:26578880

Adult bone marrow-derived stem cells for the lung: implications for pediatric lung diseases.

PubMed

van Haaften, Timothy; Thébaud, Bernard

2006-04-01

Bronchopulmonary dysplasia (BPD) and cystic fibrosis (CF) are two common serious chronic respiratory disorders without specific treatments affecting children. BPD is characterized by an arrest in alveolar growth in premature infants requiring respiratory support. CF is the most common fatal inherited genetic disorder characterized by abnormally thick mucus secretions, recurrent infection and ultimately lung destruction. One commonality between these two diseases is the promise of utilizing stem cells therapeutically. Indeed, the use of exogenous cells to supplement the natural repair mechanisms or the possibility of genetic manipulation in vitro before administration are appealing therapeutic options for these diseases. Increasing attention has been focused on the use of adult bone marrow-derived stem cells (BMSC) to regenerate damaged organs such as the heart, the brain, and the liver. However, due to the lung's complexity as well as the low rate of cellular turnover within the lung, progress has been slower in this area compared with the skin or liver. Initial work suggests that BMSC can engraft and differentiate into a variety of lung cells, but these findings have been challenged recently. This article critically reviews the current advances on the therapeutic use of stem cells for lung regeneration.

Nicotine Modulation of Fear Memories and Anxiety: Implications for Learning and Anxiety Disorders

PubMed Central

Kutlu, Munir Gunes; Gould, Thomas J.

2015-01-01

Anxiety disorders are a group of crippling mental diseases affecting millions of Americans with a 30% lifetime prevalence and costs associated with healthcare of $42.3 billion. While anxiety disorders show high levels of co-morbidity with smoking (45.3% vs. 22.5% in healthy individuals), anxiety disorders are also more common among the smoking population (22% vs. 11.1% in the non-smoking population). Moreover, there is clear evidence that smoking modulates symptom severity in patients with anxiety disorders. In order to better understand this relationship, several animal paradigms are used to model several key symptoms of anxiety disorders; these include fear conditioning and measures of anxiety. Studies clearly demonstrate that nicotine mediates acquisition and extinction of fear as well as anxiety through the modulation of specific subtypes of nicotinic acetylcholine receptors (nAChRs) in brain regions involved in emotion processing such as the hippocampus. However, the direction of nicotine’s effects on these behaviors is determined by several factors that include the length of administration, hippocampus-dependency of the fear learning task, and source of anxiety (novelty-driven vs. social anxiety). Overall, the studies reviewed here suggest that nicotine alters behaviors related to fear and anxiety and that nicotine contributes to the development, maintenance, and reoccurrence of anxiety disorders. PMID:26231942

Relationships between Premonitory Urge and Anxiety in Youth with Chronic Tic Disorders.

PubMed

Rozenman, Michelle; Johnson, Olivia E; Chang, Susanna W; Woods, Douglas W; Walkup, John T; Wilhelm, Sabine; Peterson, Alan; Scahill, Lawrence; Piacentini, John

2015-07-01

Tourette's Disorder and other chronic tic disorders are common neurodevelopmental conditions. One characteristic of tic disorders is the premonitory urge, an aversive or unpleasant sensory phenomenon that may precede tics. Initial examination of premonitory urge in pediatric tic disorders suggests that awareness and experience of sensations preceding tics may be related to anxiety and OCD. However, it may be possible that specific anxiety-related symptoms, such as anxious physiologic arousal, are particularly relevant to the experience of premonitory urge. The current study examines relationships between tic-related premonitory urge and anxiety-related symptom clusters in treatment-seeking youths with a primary diagnoses of Tourette's or other chronic tic disorder. The sample consisted of 124 youth, ages 9 to 17, who participated in the multi-site Comprehensive Behavioral Intervention for Tics randomized controlled trial (CBIT; Piacentini et al., 2010). Specific anxiety-related subtypes, including generalized worry, separation, social, and panic/somatic symptoms, as well as severity of obsessions and compulsions, were assessed as potential correlates of premonitory urge. Findings indicated that age, global tic-related impairment, and specific panic/somatic symptoms accounted for a substantial proportion of variance in youth report of premonitory urge. These findings provide information about the characteristics of premonitory urge in pediatric tic disorders, and have implications for the treatment of pediatric tic syndromes.

Occurrence of selected lower urinary tract symptoms in patientsof a day hospital for neurotic disorders.

PubMed

Sobański, Jerzy A; Skalski, Michał; Gołąbek, Tomasz; Świerkosz, Agata; Przydacz, Mikołaj; Klasa, Katarzyna; Rutkowski, Krzysztof; Dembińska, Edyta; Mielimąka, Michał; Cyranka, Katarzyna; Chłosta, Piotr L; Dudek, Dominika

2016-12-23

To assess the occurrence of selected lower urinary tract symptoms in the population of patients with neurotic and personality disorders. This was a retrospective analysis of occurrence, co-existence and severity of two selected lower urinary tract symptoms in 3,929 patients in a day hospital for neurotic disorders. The KO "O" symptom checklist was used to measure the study variables. Although the symptoms associated with micturition are not the most prevalent symptoms of neurotic disorders, neither are they the most typical ones, the prevalence of urinary frequency referring to the last week before psychotherapy evaluated among the patients of a day hospital, was approximately 50%. Involuntary micturition, a symptom with a significant implication on the self-esteem and social functioning was much less common; it was reported by approximately 5% relatively healthy and young group of patients. Major bother from urinary frequency was reported by 9-14% of patients, whereas from involuntary micturition by only 0.6%-1% of the surveyed patients. Selected urological symptoms seem to be prevalent among the patients with neurotic and personality disorders, and are independent of the specific diagnosis or patients' gender. Their co-existence with other symptoms of neurotic disorders reported by the patients indicates their strongest relationship with the somatoform, dissociative, sexual and agoraphobic disorders.

Raising attention to attention deficit hyperactivity disorder in schizophrenia

PubMed Central

Pallanti, Stefano; Salerno, Luana

2015-01-01

Schizophrenia and attention deficit hyperactivity disorder (ADHD) are two psychiatric disorders with a negative impact on quality of life of individuals affected. Although they are classified into distinct disorders categories, attentional dysfunction is considered as a core feature in both conditions, either at the clinical then pathophysiological level. Beyond the obvious clinical overlap between these disorders, the Research Domain Criteria approach might offer an interesting perspective for disentangling common circuits underpinning both disorders. Hence, we review evidences regarding the overlap between schizophrenia and ADHD, at the clinical level, and at the level of underlying brain mechanisms. The evidence regarding the influence of environmental risk factors in the emergence of both disorders, and their developmental trajectories is also reviewed. Among these, we will try to elucidate the complex relationship between stimulants use and psychotic symptoms, discussing the potential role of ADHD medication in inducing psychosis or in exacerbating it. We aim that, taken together, these findings may promote further investigation with important implications both for clinicians and research. In fact, considering the amounting evidence on the overlap between schizophrenia and ADHD, the delineation of their boundaries might help in the decision for diagnosis and treatment. Moreover, it may help to promote interventions focused on the prevention of both schizophrenia and ADHD, by the reduction of recognized environmental risk factors. PMID:25815254

New diagnostic perspectives on obsessive-compulsive personality disorder and its links with other conditions.

PubMed

Starcevic, Vladan; Brakoulias, Vlasios

2014-01-01

This review examines the conceptualization of obsessive-compulsive personality disorder (OCPD), its epidemiology and efforts to better understand the relationships between OCPD and other conditions. The alternative Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders conceptualization of OCPD is radically different in that it combines categorical and dimensional diagnostic approaches and introduces a hierarchy of diagnostic criteria. OCPD is one of the most common personality disorders in the general population. The relationship between OCPD and obsessive-compulsive disorder (OCD) is important, but to a large extent obfuscated by the overlap between their diagnostic criteria. Frequent changes in the OCPD diagnostic criteria make it difficult to ascertain the 'true' relationship between OCPD and OCD. It is not uncommon for OCPD to occur with anorexia nervosa, depression, hypochondriasis, certain other personality disorders and Parkinson's disease, but further research is necessary to understand the implications of these links. OCPD is yet to be conceptualized consistently and in the manner that would make a clear and well supported distinction between its core and peripheral features. Future studies need to separate a genuine from overlap-driven co-occurrence of OCPD and other conditions, as that would give a better insight into the way in which OCPD relates to other disorders.

Mathematical learning disorder in school-age children with attention-deficit hyperactivity disorder.

PubMed

Capano, Lucia; Minden, Debbie; Chen, Shirley X; Schacher, Russell J; Ickowicz, Abel

2008-06-01

To explore the prevalence of mathematics disorder (MD) relative to reading disorders (RD) in school-age children with attention-deficit hyperactivity disorder (ADHD) and examine the effects of age, sex, cooccurring conduct disorder (CD), and ADHD subtype on this comorbidity. Participants were school-age children (n = 476) with confirmed DSM-IV diagnosis of ADHD. The assessment included semistructured parent and teacher interviews and standardized measures of intelligence, academic attainment, and language abilities. Based on the presence or absence of concurrent learning disorders, we compared the emerging 4 groups: ADHD-only, ADHD + MD, ADHD + RD, and ADHD + MD + RD. Overall prevalence of comorbid ADHD + MD was 18.1%. Age, sex, ADHD subtypes, or comorbid CD did not affect the frequency of MD. Children with concurrent ADHD and either MD or RD attained lower IQ, language, and academic scores than those with ADHD alone. Children with ADHD + MD + RD were more seriously impaired and demonstrated distinct deficits in receptive and expressive language. MDs are relatively common in school-age children with ADHD and are frequently associated with RDs. Children with ADHD + MD + RD are more severely impaired. These deficits simply cannot be explained as consequences of ADHD and might have unique biological underpinnings, with implications for diagnostic classification and therapeutic interventions.

Kant on mental disorder. Part 2: philosophical implications of Kant's account.

PubMed

Frierson, Patrick

2009-09-01

This paper considers various philosophical problems arising from Kant's account of mental disorder. Starting with the reasons why Kant considered his theory of mental disorder important, I then turn to the implications of this theory of Kant's metaphysics, epistemology and ethics. Given Kant's account of insanity as 'a totally different standpoint... from which one sees all objects differently' (7: 216), the Critique of Pure Reason should be read as offering a more social epistemology than typically recognized. Also, mental disorders that seem to undermine human freedom and rationality raise problems for Kant's moral philosophy that his pragmatic anthropology helps to mitigate. Finally, I propose some implications of Kant's account of mental disorder for contemporary work on mental illness.

The epidemiology of the comorbidity of epilepsy in the general population.

PubMed

Gaitatzis, Athanasios; Carroll, Kevin; Majeed, Azeem; W Sander, Josemir

2004-12-01

To describe the epidemiology of somatic and psychiatric conditions in adults with epilepsy in the community and compare it to that of people without epilepsy. A cross-sectional population-based study extracting data from the UK General Practice Research Database for the period 1995-1998. Age- and sex-standardized prevalence rates were estimated for selected conditions and groups of conditions (categorized by ICD-9 chapters) in adults with epilepsy registered with primary care physicians. Results were compared with those in adults without epilepsy in the cohort, and prevalence ratios were calculated according to two broad age groups (16-64 and older than 64 years). Conditions common in the general population also were common in adults with epilepsy. Psychiatric disorders occurred twice as often, and the risk of somatic disorders was increased in people with epilepsy, with the exception of musculoskeletal and connective tissue disorders in older adults. The prevalence ratio of neoplasia, excluding intracranial tumors, was not increased in epilepsy. The prevalence ratio of brain tumors was particularly increased in young adults [prevalence ratio (PR), 70.7] and of meningiomas in older adults (PR, 91.9). Neurodegenerative conditions, particularly dementias and Alzheimer' disease (PR, 6.3 and 8, respectively) and Parkinson' disease (PR, 3.2), appeared more frequently in people with epilepsy. Upper gastrointestinal bleed occurred more frequently in epilepsy (PR, 4.3), as did cardio- and cerebrovascular disorders, fractures, pneumonia and chronic lung diseases, and diabetes. Eczema, osteoarthritis, and rheumatoid arthritis did not occur more frequently in epilepsy. The prevalence ratio of many common psychiatric and somatic conditions is increased in adults with epilepsy who consult a primary care physician in the U.K. These findings may have implications in the diagnosis and management of epilepsy and coexisting conditions, as well as in health care provision.

A Commonly Carried Genetic Variant in the Delta Opioid Receptor Gene, OPRD1, is Associated with Smaller Regional Brain Volumes: Replication in Elderly and Young Populations

PubMed Central

Roussotte, Florence F.; Jahanshad, Neda; Hibar, Derrek P.; Sowell, Elizabeth R.; Kohannim, Omid; Barysheva, Marina; Hansell, Narelle K.; McMahon, Katie L.; de Zubicaray, Greig I.; Montgomery, Grant W.; Martin, Nicholas G.; Wright, Margaret J.; Toga, Arthur W.; Jack, Clifford R.; Weiner, Michael W.; Thompson, Paul M.

2014-01-01

Delta opioid receptors are implicated in a variety of psychiatric and neurological disorders. These receptors play a key role in the reinforcing properties of drugs of abuse, and polymorphisms in OPRD1 (the gene encoding delta opioid receptors) are associated with drug addiction. Delta opioid receptors are also involved in protecting neurons against hypoxic and ischemic stress. Here, we first examined a large sample of 738 elderly participants with neuroimaging and genetic data from the Alzheimer’s Disease Neuroimaging Initiative. We hypothesized that common variants in OPRD1 would be associated with differences in brain structure, particularly in regions relevant to addictive and neurodegenerative disorders. One very common variant (rs678849) predicted differences in regional brain volumes. We replicated the association of this single-nucleotide polymorphism with regional tissue volumes in a large sample of young participants in the Queensland Twin Imaging study. Although the same allele was associated with reduced volumes in both cohorts, the brain regions affected differed between the two samples. In healthy elderly, exploratory analyses suggested that the genotype associated with reduced brain volumes in both cohorts may also predict cerebrospinal fluid levels of neurodegenerative biomarkers, but this requires confirmation. If opiate receptor genetic variants are related to individual differences in brain structure, genotyping of these variants may be helpful when designing clinical trials targeting delta opioid receptors to treat neurological disorders. PMID:23427138

Stigma, social anxiety, and illness severity in bipolar disorder: Implications for treatment.

PubMed

Levy, Boaz; Tsoy, Elena; Brodt, Madeline; Petrosyan, Karen; Malloy, Mary

2015-02-01

Studies indicate that comorbid anxiety disorders predict a more severe course of illness in bipolar disorder (BD). The relatively high prevalence of social anxiety in BD points to the potential role that socio-cultural factors, such as stigma, play in exacerbating the progression of this disorder. Stigma creates social anxiety in affected individuals because it essentially forces them into a vulnerable social status that is marked by public disgrace. Although the etiology of debilitating social anxiety in BD may involve multiple factors, stigma deserves particular clinical attention because research in this area indicates that it is common and its internalization is associated with poor outcome. We conducted a literature review using search terms related to stigma, social anxiety, bipolar disorder, illness severity, and outcomes. The electronic databases searched included PsychINFO, PubMed, JSTOR, and EBSCOhost Academic Search Complete with limits set to include articles published in English. The literature indicates that internalized stigma often triggers the core psychological experiences of social anxiety and is highly correlated with clinical and functional outcome in BD. On a psychological level, internalized stigma and social anxiety can create distress that triggers symptoms of BD. From a biological perspective, stigma constitutes a chronic psychosocial stressor that may interact with the pathophysiology of BD in inflammatory ways. The connection between stigma and social anxiety, and their combined effects on people with BD, carries important implications for psychiatric care. To obtain an accurate clinical formulation, initial evaluations may seek to examine stigma-related experiences and determine their relationship to anxiety symptoms and psychosocial functioning. In addition, direct interventions for reducing the ill effects of stigma in BD deserve clinical attention, because they may carry the potential to enhance outcomes.

An informatics approach to integrating genetic and neurological data in speech and language neuroscience.

PubMed

Bohland, Jason W; Myers, Emma M; Kim, Esther

2014-01-01

A number of heritable disorders impair the normal development of speech and language processes and occur in large numbers within the general population. While candidate genes and loci have been identified, the gap between genotype and phenotype is vast, limiting current understanding of the biology of normal and disordered processes. This gap exists not only in our scientific knowledge, but also in our research communities, where genetics researchers and speech, language, and cognitive scientists tend to operate independently. Here we describe a web-based, domain-specific, curated database that represents information about genotype-phenotype relations specific to speech and language disorders, as well as neuroimaging results demonstrating focal brain differences in relevant patients versus controls. Bringing these two distinct data types into a common database ( http://neurospeech.org/sldb ) is a first step toward bringing molecular level information into cognitive and computational theories of speech and language function. One bridge between these data types is provided by densely sampled profiles of gene expression in the brain, such as those provided by the Allen Brain Atlases. Here we present results from exploratory analyses of human brain gene expression profiles for genes implicated in speech and language disorders, which are annotated in our database. We then discuss how such datasets can be useful in the development of computational models that bridge levels of analysis, necessary to provide a mechanistic understanding of heritable language disorders. We further describe our general approach to information integration, discuss important caveats and considerations, and offer a specific but speculative example based on genes implicated in stuttering and basal ganglia function in speech motor control.

Understanding the associations between psychosocial factors and severity of crime in juvenile delinquency: a cross-sectional study.

PubMed

Taşkıran, Sarper; Mutluer, Tuba; Tufan, Ali Evren; Semerci, Bengi

2017-01-01

Juvenile delinquency is a serious and common problem. To date, several studies have focused on possible psychosocial risk factors for delinquency among youths and on the implications of childhood mental illness on child criminality. However, the literature on prevalence of psychopathology and predictors of crime severity among delinquent youths in Turkey is sparse. Therefore, the aim of this study was to show the associations between crime severity and psychosocial factors such as gender, age, criminal history, concomitant attention deficit hyperactivity disorder (ADHD) and other comorbid psychiatric conditions, along with behavioral problem domains of Child Behavior Checklist (CBCL). This analytical cross-sectional study sample consisted of 52 individuals (30 females and 22 males) who were sent to a pilot detention facility in Istanbul, Turkey. The participants' age ranged from 8 to 18 years ( M =13.4; SD =2.9). Self-rating scales were administered in an interview format, and the crime severity information was provided by participants' admission documents. No differences were found in terms of gender, age, children's past history of crime and substance abuse. However, family crime history was significantly higher in the high severity crime group ( P =0.026). Having one or more comorbid psychiatric disorder was associated with high crime severity ( P =0.018). The most common psychiatric disorders were found to be ADHD, oppositional defiant disorder, conduct disorder (CD) and anxiety disorder. Findings suggest that a family history of crime comes across as a very strong predictor of severity of crime. Among psychiatric factors, ADHD and CD were associated with commitment of more severe crimes in delinquent youths in our sample. Anxious/depressed traits as depicted by CBCL are found to be associated with less severe crimes.

Understanding the associations between psychosocial factors and severity of crime in juvenile delinquency: a cross-sectional study

PubMed Central

Taşkıran, Sarper; Mutluer, Tuba; Tufan, Ali Evren; Semerci, Bengi

2017-01-01

Purpose Juvenile delinquency is a serious and common problem. To date, several studies have focused on possible psychosocial risk factors for delinquency among youths and on the implications of childhood mental illness on child criminality. However, the literature on prevalence of psychopathology and predictors of crime severity among delinquent youths in Turkey is sparse. Therefore, the aim of this study was to show the associations between crime severity and psychosocial factors such as gender, age, criminal history, concomitant attention deficit hyperactivity disorder (ADHD) and other comorbid psychiatric conditions, along with behavioral problem domains of Child Behavior Checklist (CBCL). Participants and methods This analytical cross-sectional study sample consisted of 52 individuals (30 females and 22 males) who were sent to a pilot detention facility in Istanbul, Turkey. The participants’ age ranged from 8 to 18 years (M =13.4; SD =2.9). Self-rating scales were administered in an interview format, and the crime severity information was provided by participants’ admission documents. Results No differences were found in terms of gender, age, children’s past history of crime and substance abuse. However, family crime history was significantly higher in the high severity crime group (P=0.026). Having one or more comorbid psychiatric disorder was associated with high crime severity (P=0.018). The most common psychiatric disorders were found to be ADHD, oppositional defiant disorder, conduct disorder (CD) and anxiety disorder. Conclusion Findings suggest that a family history of crime comes across as a very strong predictor of severity of crime. Among psychiatric factors, ADHD and CD were associated with commitment of more severe crimes in delinquent youths in our sample. Anxious/depressed traits as depicted by CBCL are found to be associated with less severe crimes. PMID:28572731

Sociodemographic and Psychopathologic Predictors of First Incidence of DSM-IV Substance Use, Mood, and Anxiety Disorders: Results from the Wave 2 National Epidemiologic Survey on Alcohol and Related Conditions

PubMed Central

Grant, Bridget F.; Goldstein, Rise B.; Chou, S. Patricia; Huang, Boji; Stinson, Frederick S.; Dawson, Deborah A.; Saha, Tulshi D.; Smith, Sharon M.; Pulay, Attila J.; Pickering, Roger P.; Ruan, W. June; Compton, Wilson M.

2009-01-01

The objective of this study was to present nationally representative findings on sociodemographic and psychopathologic predictors of first incidence of DSM-IV substance, mood and anxiety disorders using the Wave 2 National Epidemiologic Survey on Alcohol and Related Conditions. One-year incidence rates of DSM-IV substance, mood and anxiety disorders were highest for alcohol abuse (1.02) alcohol dependence (1.70), major depressive disorder (MDD: 1.51) and generalized anxiety disorder (GAD: 1.12). Incidence rates were significantly greater (p < 0.01) among men for substance use disorders and greater among women for mood and anxiety disorders except bipolar disorder and social phobia. Age was inversely related to all disorders. Black individuals were at decreased risk of incident alcohol abuse and Hispanic individuals were at decreased risk of GAD. Anxiety disorders at baseline more often predicted incidence of other anxiety disorders than mood disorders. Reciprocal temporal relationships were found between alcohol abuse and dependence, MDD and GAD, and GAD and panic disorder. Borderline and schizotypal personality disorders predicted most incident disorders. Incidence rates of substance, mood and anxiety disorders were comparable to or greater than rates of lung cancer, stroke, and cardiovascular disease. The greater incidence of all disorders in the youngest cohort underscores the need for increased vigilance in identifying and treating these disorders among young adults. Strong common factors and unique factors appear to underlie associations between alcohol abuse and dependence, MDD and GAD, and GAD and panic disorder. The major results of this study are discussed with regard to prevention and treatment implications. PMID:18427559

Brain Imaging in Pediatric Obsessive-Compulsive Disorder

ERIC Educational Resources Information Center

MacMaster, Frank P.; O'Neill, Joseph; Rosenberg, David R.

2008-01-01

Neuroimaging findings support the frontal-striatal-thalamic model of pediatric obsessive-compulsive disorder. Glutamate is also implicated in the pathological finding of the disease. Implications for pediatric OCD treatments are discussed.

Adult attention deficit hyperactivity disorder in an anxiety disorders population.

PubMed

Van Ameringen, Michael; Mancini, Catherine; Simpson, William; Patterson, Beth

2011-08-01

Adult Attention Deficit Hyperactivity Disorder (ADHD) is a life-long, chronic disorder, which has its onset in childhood and is associated with significant functional impairment. ADHD appears to be highly comorbid with other psychiatric disorders, however, literature is lacking concerning ADHD/anxiety comorbidity. To that end, we examined the prevalence of ADHD in an anxiety disorder sample. Consecutive patients referred to an anxiety disorders clinic completed a variety of anxiety disorder self-report measures as well as the Adult ADHD self-report scale and were clinically assessed using the Structured Clinical Interview for DSM-IV, and the ADHD module of the Mini International Neuropsychiatric Interview. Of the 129 patients assessed, the rate of adult ADHD was 27.9%. The mean age of the sample was 33.1 ± 12.5 years, and the mean baseline CGI-S was 4.6 ± 1.1 (moderate to marked severity). The majority of the sample was female (63.6%) and single (49.5%). The most common comorbid disorders associated with ADHD were major depressive disorder (53.8%), social phobia (38.5%), generalized anxiety disorder (23.1%), and impulse control disorders (30.8%). Individuals with ADHD had higher symptom severity scores for obsessive-compulsive disorder, (P≤ 0.05) and for GAD (P≤ 0.05) and reported a significantly earlier age of onset for depression as compared to those without (P≤ 0.05). The prevalence of adult ADHD was higher in our anxiety disorders clinic sample than found in the general population. Clinical implications of these findings are discussed. © 2010 Blackwell Publishing Ltd.

Epigenetics and memory: causes, consequences and treatments for post-traumatic stress disorder and addiction.

PubMed

Pizzimenti, C L; Lattal, K M

2015-01-01

Understanding the interaction between fear and reward at the circuit and molecular levels has implications for basic scientific approaches to memory and for understanding the etiology of psychiatric disorders. Both stress and exposure to drugs of abuse induce epigenetic changes that result in persistent behavioral changes, some of which may contribute to the formation of a drug addiction or a stress-related psychiatric disorder. Converging evidence suggests that similar behavioral, neurobiological and molecular mechanisms control the extinction of learned fear and drug-seeking responses. This may, in part, account for the fact that individuals with post-traumatic stress disorder have a significantly elevated risk of developing a substance use disorder and have high rates of relapse to drugs of abuse, even after long periods of abstinence. At the behavioral level, a major challenge in treatments is that extinguished behavior is often not persistent, returning with changes in context, the passage of time or exposure to mild stressors. A common goal of treatments is therefore to weaken the ability of stressors to induce relapse. With the discovery of epigenetic mechanisms that create persistent molecular signals, recent work on extinction has focused on how modulating these epigenetic targets can create lasting extinction of fear or drug-seeking behavior. Here, we review recent evidence pointing to common behavioral, systems and epigenetic mechanisms in the regulation of fear and drug seeking. We suggest that targeting these mechanisms in combination with behavioral therapy may promote treatment and weaken stress-induced relapse. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Expressive morphosyntax in boys with Fragile X syndrome with and without autism spectrum disorder

PubMed Central

Estigarribia, Bruno; Roberts, Joanne Erwick; Sideris, John; Price, Johanna

2010-01-01

Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, and the most common single gene disorder associated with autism. Language impairments in this disorder are well documented, but the nature and extent of syntactic impairments are still unclear. Aims To compare the performance of boys with FXS with and without autism spectrum disorder on measures of verb (VM) and noun (NM) morphosyntax with that of typically developing boys of similar non-verbal mental ages. Methods & Procedures Conversational samples were obtained from 33 boys with FXS with autism spectrum disorder (FXS-ASD), 35 boys with FXS and no ASD (FXS-O), and 46 typically developing boys (TD). Production of verbal and nominal morphosyntax was assessed separately in these two subdomains. A hierarchical linear model compared morphosyntactic scores in all groups after adjusting for non-verbal cognition, articulatory skill, and caregiver education. The model also tested interactions between group and morphosyntactic subdomain. Outcomes & Results Boys with FXS in both groups scored lower than the TD boys on both measures. The FXS-O and the FXS-ASD groups did not differ on either composite measure. All covariates were significantly related to morphosyntactic scores. Conclusions & Implications Part of the morphosyntactic impairment in FXS may be attributable to cognitive, environmental, and speech factors. However, it is clear that boys with FXS perform at levels lower than expected from differences in these extra-linguistic factors alone, across both the verb and the noun domains. Clinical interventions should therefore seek to address specific syntactic targets. PMID:21401819

Resveratrol, tryptophanum, glycine and vitamin E: a nutraceutical approach to sleep disturbance and irritability in peri- and post-menopause.

PubMed

Parazzini, F

2015-02-01

The climacteric syndrome is characterized by several symptoms: hot flashes are the most common and reported by about 70% of peri- post-menopausal women. Sleep disorders, particularly decreased sleep quality, and irritability are also commonly reported. There is a clinical and epidemiological relationship between these symptoms. Common biological mechanisms may explain in part the relationship between hot flushes, sleep disorders and irritability. For example, withdrawal of hormones causes change in the serotonin levels. Tryptophan is an essential amino acid. it is the precursor for the serotonin synthesis and is naturally found in food such as turkey, cheese, and nuts. The serotonergic system is implicated in sleep, mood, and hot flashes. Glycine is an amino acid found mainly in protein-rich food such as meat, fish, dairy products, cheese and vegetables. It is an inhibitory neurotransmitter in the central nervous system. Studies have shown that glycine can promote a deeper level of sleep. Resveratrol has a similar chemical structure to the diethylstilbestrol and 17-beta estradiol and acts as a phytoestrogen. Resveratrol at doses of 3-10 micromoles inhibited the estradiol-estrogen receptor binding and showed an estrogen-like activity. Vitamin E is found naturally in some food and available as a dietary supplement. It has an antioxidant activity. It has been suggested that the oxidative stress may also play a role in sleep disorders. Some studies have shown protective effect of vitamins E on sleep quality. In conclusion, hot flashes, sleep disturbances and mood disorders may represent a continuum in the climacteric syndrome, which recognize in the hormonal changes and the neurotrasmettitors level alteration a potential common pathway. The nutraceutical approach may be useful in a preventive perspective. Among the large choice of functional food available, the combination of resveratrol, tryptophanum, glycine and vitamin E may represent an interesting opportunity in the routine clinical practice.

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.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

PubMed

Timberlake, Andrew T; Furey, Charuta G; Choi, Jungmin; Nelson-Williams, Carol; Loring, Erin; Galm, Amy; Kahle, Kristopher T; Steinbacher, Derek M; Larysz, Dawid; Persing, John A; Lifton, Richard P

2017-08-29

Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10.9-fold enrichment, P = 2.4 × 10 -11 ). SMAD6 had 4 de novo and 14 transmitted mutations; no other gene had more than 1. Four familial NSC kindreds had mutations in genes previously implicated in syndromic disease. Collectively, these mutations contribute to 10% of probands. Mutations are predominantly loss-of-function, implicating haploinsufficiency as a frequent mechanism. A common risk variant near BMP2 increased the penetrance of SMAD6 mutations and was overtransmitted to patients with de novo mutations in other genes in these pathways, supporting a frequent two-locus pathogenesis. These findings implicate new genes in NSC and demonstrate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses. These findings have implications for diagnosis, risk of recurrence, and risk of adverse neurodevelopmental outcomes. Finally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understanding other congenital disorders featuring high locus heterogeneity.

Social phobia: further evidence of dimensional structure.

PubMed

Crome, Erica; Baillie, Andrew; Slade, Tim; Ruscio, Ayelet Meron

2010-11-01

Social phobia is a common mental disorder associated with significant impairment. Current research and treatment models of social phobia rely on categorical diagnostic conceptualizations lacking empirical support. This study aims to further research exploring whether social phobia is best conceptualized as a dimension or a discrete categorical disorder. This study used three distinct taxometric techniques (mean above minus below a cut, maximum Eigen value and latent mode) to explore the latent structure of social phobia in two large epidemiological samples, using indicators derived from diagnostic criteria and associated avoidant personality traits. Overall, outcomes from multiple taxometric analyses supported dimensional structure. This is consistent with conceptualizations of social phobia as lying on a continuum with avoidant personality traits. Support for the dimensionality of social phobia has important implications for future research, assessment, treatment, and public policy.

Medical Management of Melasma: A Review with Consensus Recommendations by Indian Pigmentary Expert Group.

PubMed

Sarkar, Rashmi; Gokhale, Narendra; Godse, Kiran; Ailawadi, Pallavi; Arya, Latika; Sarma, Nilendu; Torsekar, R G; Somani, V K; Arora, Pooja; Majid, Imran; Ravichandran, G; Singh, Mohan; Aurangabadkar, Sanjeev; Arsiwala, Shehnaz; Sonthalia, Sidharth; Salim, T; Shah, Swapnil

2017-01-01

Melasma is one of the most common hyperpigmentary disorders found mainly in women and dark-skinned patients. Sunlight, hormones, pregnancy, and genetics remain the most implicated in the causation of melasma. Although rather recalcitrant to treatment, topical agents such as hydroquinone, modified Kligman's Regime, azelaic acid, kojic acid, Vitamin C, and arbutin still remain the mainstay of therapy with sun protection being a cornerstone of therapy. There are several new botanical and non botanical agents and upcoming oral therapies for the future. There is a lack of therapeutic guidelines, more so in the Indian setup. The article discusses available evidence and brings forward a suggested treatment algorithm by experts from Pigmentary Disorders Society (PDS) in a collaborative discussion called South Asian Pigmentary Forum (SPF).

Physical Activity Modulates Common Neuroplasticity Substrates in Major Depressive and Bipolar Disorder

PubMed Central

2017-01-01

Mood disorders (MDs) are chronic, recurrent mental diseases that affect millions of individuals worldwide. Although the biogenic amine model has provided some clinical utility, a need remains to better understand the interrelated mechanisms that contribute to neuroplasticity deficits in MDs and the means by which various therapeutics mitigate them. Of those therapeutics being investigated, physical activity (PA) has shown clear and consistent promise. Accordingly, the aims of this review are to (1) explicate key modulators, processes, and interactions that impinge upon multiple susceptibility points to effectuate neuroplasticity deficits in MDs; (2) explore the putative mechanisms by which PA mitigates these features; (3) review protocols used to induce the positive effects of PA in MDs; and (4) highlight implications for clinicians and researchers. PMID:28529805

Examining the uniqueness of frequency and intensity symptom ratings in posttraumatic stress disorder assessment.

PubMed

Elhai, Jon D; Lindsay, Brenda M; Gray, Matt J; Grubaugh, Anouk L; North, Terry C; Frueh, B Christopher

2006-12-01

Data from two studies are presented, investigating the relative effectiveness of posttraumatic stress disorder (PTSD) symptom frequency and intensity rating dimensions, in assessing overall PTSD severity and diagnosis. We assessed frequency and intensity ratings using 1) the Modified PTSD Symptom Scale with 298 trauma-exposed college students, and 2) the Clinician-Administered PTSD Scale with 130 combat-exposed military veterans. Results demonstrated little empirical justification for separating frequency and intensity ratings when measuring PTSD. Large overlaps in variance were evidenced between the dimensions (suggesting construct redundancy), with little meaningful contribution to diagnosing PTSD using one dimension over the other. Implications for future PTSD clinical and research assessment are discussed, including the potential to decrease administration time for these commonly used PTSD measures, given their time-consuming nature.

The Molecular Genetics of Autism Spectrum Disorders: Genomic Mechanisms, Neuroimmunopathology, and Clinical Implications

PubMed Central

Guerra, Daniel J.

2011-01-01

Autism spectrum disorders (ASDs) have become increasingly common in recent years. The discovery of single-nucleotide polymorphisms and accompanying copy number variations within the genome has increased our understanding of the architecture of the disease. These genetic and genomic alterations coupled with epigenetic phenomena have pointed to a neuroimmunopathological mechanism for ASD. Model animal studies, developmental biology, and affective neuroscience laid a foundation for dissecting the neural pathways impacted by these disease-generating mechanisms. The goal of current autism research is directed toward a systems biological approach to find the most basic genetic and environmental causes to this severe developmental disease. It is hoped that future genomic and neuroimmunological research will be directed toward finding the road toward prevention, treatment, and cure of ASD. PMID:22937247

Medical Management of Melasma: A Review with Consensus Recommendations by Indian Pigmentary Expert Group

PubMed Central

Sarkar, Rashmi; Gokhale, Narendra; Godse, Kiran; Ailawadi, Pallavi; Arya, Latika; Sarma, Nilendu; Torsekar, R G; Somani, V K; Arora, Pooja; Majid, Imran; Ravichandran, G; Singh, Mohan; Aurangabadkar, Sanjeev; Arsiwala, Shehnaz; Sonthalia, Sidharth; Salim, T; Shah, Swapnil

2017-01-01

Melasma is one of the most common hyperpigmentary disorders found mainly in women and dark-skinned patients. Sunlight, hormones, pregnancy, and genetics remain the most implicated in the causation of melasma. Although rather recalcitrant to treatment, topical agents such as hydroquinone, modified Kligman's Regime, azelaic acid, kojic acid, Vitamin C, and arbutin still remain the mainstay of therapy with sun protection being a cornerstone of therapy. There are several new botanical and non botanical agents and upcoming oral therapies for the future. There is a lack of therapeutic guidelines, more so in the Indian setup. The article discusses available evidence and brings forward a suggested treatment algorithm by experts from Pigmentary Disorders Society (PDS) in a collaborative discussion called South Asian Pigmentary Forum (SPF). PMID:29263529

Atropa belladonna neurotoxicity: Implications to neurological disorders.

PubMed

Kwakye, Gunnar F; Jiménez, Jennifer; Jiménez, Jessica A; Aschner, Michael

2018-06-01

Atropa belladonna, commonly known as belladonna or deadly nightshade, ranks among one of the most poisonous plants in Europe and other parts of the world. The plant contains tropane alkaloids including atropine, scopolamine, and hyoscyamine, which are used as anticholinergics in Food and Drug Administration (FDA) approved drugs and homeopathic remedies. These alkaloids can be very toxic at high dose. The FDA has recently reported that Hyland's baby teething tablets contain inconsistent amounts of Atropa belladonna that may have adverse effects on the nervous system and cause death in children, thus recalled the product in 2017. A greater understanding of the neurotoxicity of Atropa belladonna and its modification of genetic polymorphisms in the nervous system is critical in order to develop better treatment strategies, therapies, regulations, education of at-risk populations, and a more cohesive paradigm for future research. This review offers an integrated view of the homeopathy and neurotoxicity of Atropa belladonna in children, adults, and animal models as well as its implications to neurological disorders. Particular attention is dedicated to the pharmaco/toxicodynamics, pharmaco/toxicokinetics, pathophysiology, epidemiological cases, and animal studies associated with the effects of Atropa belladonna on the nervous system. Additionally, we discuss the influence of active tropane alkaloids in Atropa belladonna and other similar plants on FDA-approved therapeutic drugs for treatment of neurological disorders. Copyright © 2018. Published by Elsevier Ltd.

Genetic architecture for human aggression: A study of gene-phenotype relationship in OMIM.

PubMed

Zhang-James, Yanli; Faraone, Stephen V

2016-07-01

Genetic studies of human aggression have mainly focused on known candidate genes and pathways regulating serotonin and dopamine signaling and hormonal functions. These studies have taught us much about the genetics of human aggression, but no genetic locus has yet achieved genome-significance. We here present a review based on a paradoxical hypothesis that studies of rare, functional genetic variations can lead to a better understanding of the molecular mechanisms underlying complex multifactorial disorders such as aggression. We examined all aggression phenotypes catalogued in Online Mendelian Inheritance in Man (OMIM), an Online Catalog of Human Genes and Genetic Disorders. We identified 95 human disorders that have documented aggressive symptoms in at least one individual with a well-defined genetic variant. Altogether, we retrieved 86 causal genes. Although most of these genes had not been implicated in human aggression by previous studies, the most significantly enriched canonical pathways had been previously implicated in aggression (e.g., serotonin and dopamine signaling). Our findings provide strong evidence to support the causal role of these pathways in the pathogenesis of aggression. In addition, the novel genes and pathways we identified suggest additional mechanisms underlying the origins of human aggression. Genome-wide association studies with very large samples will be needed to determine if common variants in these genes are risk factors for aggression. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

PubMed

Tey, S; Ahmad-Annuar, A; Drew, A P; Shahrizaila, N; Nicholson, G A; Kennerson, M L

2016-08-01

The cytoplasmic dynein-dynactin genes are attractive candidates for neurodegenerative disorders given their functional role in retrograde transport along neurons. The cytoplasmic dynein heavy chain (DYNC1H1) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (DCTN1) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia. However, the involvement of other dynactin genes with inherited peripheral neuropathies (IPN) namely, hereditary sensory neuropathy, hereditary motor neuropathy and Charcot-Marie-Tooth disease is under reported. We screened eight genes; DCTN1-6 and ACTR1A and ACTR1B in 136 IPN patients using whole-exome sequencing and high-resolution melt (HRM) analysis. Eight non-synonymous variants (including one novel variant) and three synonymous variants were identified. Four variants have been reported previously in other studies, however segregation analysis within family members excluded them from causing IPN in these families. No variants of disease significance were identified in this study suggesting the dynactin genes are unlikely to be a common cause of IPNs. However, with the ease of querying gene variants from exome data, these genes remain worthwhile candidates to assess unsolved IPN families for variants that may affect the function of the proteins. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Excitotoxicity in the pathogenesis of neurological and psychiatric disorders: Therapeutic implications.

PubMed

Olloquequi, Jordi; Cornejo-Córdova, Elizabeth; Verdaguer, Ester; Soriano, Francesc X; Binvignat, Octavio; Auladell, Carme; Camins, Antoni

2018-03-01

Neurological and psychiatric disorders are leading contributors to the global disease burden, having a serious impact on the quality of life of both patients and their relatives. Although the molecular events underlying these heterogeneous diseases remain poorly understood, some studies have raised the idea of common mechanisms involved. In excitotoxicity, there is an excessive activation of glutamate receptors by excitatory amino acids, leading to neuronal damage. Thus, the excessive release of glutamate can lead to a dysregulation of Ca 2+ homeostasis, triggering the production of free radicals and oxidative stress, mitochondrial dysfunction and eventually cell death. Although there is a consensus in considering excitotoxicity as a hallmark in most neurodegenerative diseases, increasing evidence points to the relevant role of this pathological mechanism in other illnesses affecting the central nervous system. Consequently, antagonists of glutamate receptors are used in current treatments or in clinical trials in both neurological and psychiatric disorders. However, drugs modulating other aspects of the excitotoxic mechanism could be more beneficial. This review discusses how excitotoxicity is involved in the pathogenesis of different neurological and psychiatric disorders and the promising strategies targeting the excitotoxic insult.

Neural correlates of apathy in patients with neurodegenerative disorders, acquired brain injury, and psychiatric disorders.

PubMed

Kos, Claire; van Tol, Marie-José; Marsman, Jan-Bernard C; Knegtering, Henderikus; Aleman, André

2016-10-01

Apathy can be described as a loss of goal-directed purposeful behavior and is common in a variety of neurological and psychiatric disorders. Although previous studies investigated associations between abnormal brain functioning and apathy, it is unclear whether the neural basis of apathy is similar across different pathological conditions. The purpose of this systematic review was to provide an extensive overview of the neuroimaging literature on apathy including studies of various patient populations, and evaluate whether the current state of affairs suggest disorder specific or shared neural correlates of apathy. Results suggest that abnormalities within fronto-striatal circuits are most consistently associated with apathy across the different pathological conditions. Of note, abnormalities within the inferior parietal cortex were also linked to apathy, a region previously not included in neuroanatomical models of apathy. The variance in brain regions implicated in apathy may suggest that different routes towards apathy are possible. Future research should investigate possible alterations in different processes underlying goal-directed behavior, ranging from intention and goal-selection to action planning and execution. Copyright © 2016. Published by Elsevier Ltd.

At the core of eating disorders: Overvaluation, social rank, self-criticism and shame in anorexia, bulimia and binge eating disorder.

PubMed

Duarte, Cristiana; Ferreira, Cláudia; Pinto-Gouveia, José

2016-04-01

This study examined the similarities and differences in eating psychopathology symptoms, overvaluation of body shape, weight and eating, general psychopathology, social comparison, self-criticism and shame, between AN, BN and BED patients. Also, the mediator effect of self-criticism and social comparison on the association between overvaluation and shame, was tested. Participants were 119 patients (34 AN, 34 BN and 51 BED) diagnosed through the Eating Disorder Examination. Results indicated that BED patients are older and present higher BMI. The groups differed regarding eating disorders' symptomatology, but no significant differences were observed in overvaluation, self-criticism, shame and overall psychopathology symptoms. The path model confirmed that overvaluation has a significant indirect association with shame, which is mediated by severe self-criticism and negative social comparisons. The model was fond to be invariant between the clinical groups. These findings contribute for the understanding of the common processes that feed the perpetual cycle of eating psychopathology. Thus, these data have potential implications for transdiagnostic approaches to treatment. Copyright © 2016 Elsevier Inc. All rights reserved.

Developmental dyscalculia.

PubMed

Shalev, Ruth S

2004-10-01

Developmental dyscalculia is a specific learning disability affecting the normal acquisition of arithmetic skills. Genetic, neurobiologic, and epidemiologic evidence indicates that dyscalculia, like other learning disabilities, is a brain-based disorder. However, poor teaching and environmental deprivation have also been implicated in its etiology. Because the neural network of both hemispheres comprises the substrate of normal arithmetic skills, dyscalculia can result from dysfunction of either hemisphere, although the left parietotemporal area is of particular significance. The prevalence of developmental dyscalculia is 5 to 6% in the school-aged population and is as common in girls as in boys. Dyscalculia can occur as a consequence of prematurity and low birthweight and is frequently encountered in a variety of neurologic disorders, such as attention-deficit hyperactivity disorder (ADHD), developmental language disorder, epilepsy, and fragile X syndrome. Developmental dyscalculia has proven to be a persisting learning disability, at least for the short term, in about half of affected preteen pupils. Educational interventions for dyscalculia range from rote learning of arithmetic facts to developing strategies for solving arithmetic exercises. The long-term prognosis of dyscalculia and the role of remediation in its outcome are yet to be determined.

Child and setting characteristics affecting the adult talk directed at preschoolers with autism spectrum disorder in the inclusive classroom.

PubMed

Irvin, Dwight W; Boyd, Brian A; Odom, Samuel L

2015-02-01

Difficulty with social competence is a core deficit of autism spectrum disorder. Research on typically developing children and children with disabilities, in general, suggests the adult talk received in the classroom is related to their social development. The aims of this study were to examine (1) the types and amounts of adult talk children with autism spectrum disorder are exposed to in the preschool classroom and (2) the associations between child characteristics (e.g. language), activity area, and adult talk. Kontos' Teacher Talk classification was used to code videos approximately 30 min in length of 73 children with autism spectrum disorder (ages 3-5) in inclusive classrooms (n = 33) during center time. The results indicated practical/personal assistance was the most common type of adult talk coded, and behavior management talk least often coded. Child characteristics (i.e. age and autism severity) and activity area were found to be related to specific types of adult talk. Given the findings, implications for future research are discussed. © The Author(s) 2014.

Shift work and its association with metabolic disorders.

PubMed

Brum, Maria Carlota Borba; Filho, Fábio Fernandes Dantas; Schnorr, Claudia Carolina; Bottega, Gustavo Borchardt; Rodrigues, Ticiana C

2015-01-01

Although the health burden of shift work has not been extensively studied, evidence suggests that it may affect the metabolic balance and cause obesity and other metabolic disorders. Sleep deprivation, circadian desynchronization and behavioral changes in diet and physical activity are among the most commonly mentioned factors in studies of the association between night work and metabolic disorders. Individual adaptation to night work depends greatly on personal factors such as family and social life, but occupational interventions may also make a positive contribution to the transition to shift work, such as exposure to bright lights during the night shift, melatonin use, shift regularity and clockwise rotation, and dietary adaptations for the metabolic needs of night workers. The evaluation of the impact of night work on health and of the mechanisms underlying this relationship can serve as a basis for intervention strategies to minimize the health burden of shift work. This review aimed to identify highlights regarding therapeutic implications following the association between night and shift work and metabolic disorders, as well as the mechanisms and pathways responsible for these relationships.

Hoarding in Youth with Autism Spectrum Disorders and Anxiety: Incidence, Clinical Correlates, and Behavioral Treatment Response.

PubMed

Storch, Eric A; Nadeau, Joshua M; Johnco, Carly; Timpano, Kiara; McBride, Nicole; Jane Mutch, P; Lewin, Adam B; Murphy, Tanya K

2016-05-01

This study examined the nature and correlates of hoarding among youth with autism spectrum disorders (ASD). Forty children with ASD and a comorbid anxiety disorder were administered a battery of clinician-administered measures assessing presence of psychiatric disorders and anxiety severity. Parents completed questionnaires related to child hoarding behaviors, social responsiveness, internalizing and externalizing behaviors, and functional impairment. We examined the impact of hoarding behaviors on treatment response in a subsample of twenty-six youth who completed a course of personalized cognitive-behavioral therapy targeting anxiety symptoms. Hoarding symptoms were common and occurred in a clinically significant manner in approximately 25 % of cases. Overall hoarding severity was associated with increased internalizing and anxiety/depressive symptoms, externalizing behavior, and attention problems. Discarding items was associated with internalizing and anxious/depressive symptoms, but acquisition was not. Hoarding decreased following cognitive-behavioral therapy but did not differ between treatment responders and non-responders. These data are among the first to examine hoarding among youth with ASD; implications of study findings and future directions are highlighted.

Women's Auto/Biography and Dissociative Identity Disorder: Implications for Mental Health Practice.

PubMed

Tomlinson, Kendal; Baker, Charley

2017-09-06

Dissociative Identity Disorder (DID) is an uncommon disorder that has long been associated with exposure to traumatic stressors exceeding manageable levels commonly encompassing physical, psychological and sexual abuse in childhood that is prolonged and severe in nature. In DID, dissociation continues after the traumatic experience and produces a disruption in identity where distinct personality states develop. These personalities are accompanied by variations in behaviour, emotions, memory, perception and cognition. The use of literature in psychiatry can enrich comprehension over the subjective experience of a disorder, and the utilisation of 'illness narratives' in nursing research have been considered a way of improving knowledge about nursing care and theory development. This research explores experiences of DID through close textual reading and thematic analysis of five biographical and autobiographical texts, discussing the lived experience of the disorder. This narrative approach aims to inform empathetic understanding and support the facilitation of therapeutic alliances in mental healthcare for those experiencing the potentially debilitating and distressing symptoms of DID. Although controversies surrounding the biomedical diagnosis of DID are important to consider, the lived experiences of those who mental health nurses encounter should be priority.

Targeting the endocannabinoid system to treat anxiety-related disorders.

PubMed

Korem, Nachshon; Zer-Aviv, Tomer Mizrachi; Ganon-Elazar, Eti; Abush, Hila; Akirav, Irit

2016-05-01

The endocannabinoid system plays an important role in the control of emotions, and its dysregulation has been implicated in several psychiatric disorders. The most common self-reported reason for using cannabis is rooted in its ability to reduce feelings of stress, tension, and anxiety. Nevertheless, there are only few studies in controlled clinical settings that confirm that administration of cannabinoids can benefit patients with a post-traumatic stress disorder (PTSD). There are considerable encouraging preclinical data to suggest that endocannabinoid-targeted therapeutics for anxiety disorders should continue. In this review, we will describe data supporting a role for the endocannabinoid system in preventing and treating anxiety-like behavior in animal models and PTSD patients. Cannabinoids have shown beneficial outcomes in rat and mouse models of anxiety and PTSD, but they also may have untoward effects that discourage their chronic usage, including anxiogenic effects. Hence, clinical and preclinical research on the endocannabinoid system should further study the effects of cannabinoids on anxiety and help determine whether the benefits of using exogenous cannabinoids outweigh the risks. In general, this review suggests that targeting the endocannabinoid system represents an attractive and novel approach to the treatment of anxiety-related disorders and, in particular, PTSD.

Differences in resting corticolimbic functional connectivity in bipolar I euthymia

PubMed Central

Torrisi, Salvatore; Moody, Teena D; Vizueta, Nathalie; Thomason, Moriah E; Monti, Martin M; Townsend, Jennifer D; Bookheimer, Susan Y; Altshuler, Lori L

2012-01-01

Objective We examined resting state functional connectivity in the brain between key emotion regulation regions in bipolar I disorder to delineate differences in coupling from healthy subjects. Methods Euthymic subjects with bipolar I disorder (n = 20) and matched healthy subjects (n = 20) participated in a resting state functional magnetic resonance imaging scan. Low frequency fluctuations in blood oxygen level-dependent (BOLD) signal were correlated in the six connections between four anatomically-defined nodes: left and right amygdala and left and right ventrolateral prefrontal cortex (vlPFC). Seed-to-voxel connectivity results were probed for commonly coupled regions. Following this, an identified region was included in a mediation analysis to determine the potential of mediation. Results The bipolar I disorder group exhibited significant hyperconnectivity between right amygdala and right vlPFC relative to healthy subjects. The connectivity between these regions in the bipolar I disorder group was partially mediated by activity in the anterior cingulate cortex (ACC). Conclusions Greater coupling between right amygdala and right vlPFC and their partial mediation by the ACC were found in bipolar I disorder subjects in remission and in the absence of a psychological task. These findings have implications for a trait-related and clinically-important imaging biomarker. PMID:23347587

The Role of Ionotropic Glutamate Receptors in Childhood Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X Syndrome

PubMed Central

Uzunova, Genoveva; Hollander, Eric; Shepherd, Jason

2014-01-01

Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS. PMID:24533017

Self-regulated compliance in preschoolers with autism spectrum disorder: The role of temperament and parental disciplinary style.

PubMed

Ostfeld-Etzion, Sharon; Feldman, Ruth; Hirschler-Guttenberg, Yael; Laor, Nathaniel; Golan, Ofer

2016-10-01

Regulatory difficulties are common in children with autism spectrum disorder. This study focused on an important aspect of self-regulation-the ability to willingly comply with frustrating demands of socialization agents, termed "self-regulated compliance." We studied compliance to parental demands in 40 preschoolers with autism spectrum disorder and 40 matched typically developing preschoolers, during separate interactions with mother and father, while engaging in two paradigms: toy pick-up and delayed gratification, which tap the "do" and "don't" aspects of self-regulated socialization at this age. Parents' disciplinary style was micro-coded from the two paradigms and child temperament was parent reported. Compared to their typically developing peers, children with autism spectrum disorder showed more noncompliance and less self-regulated compliance to parental demands and prohibitions and greater temperamental difficulties across several domains. No group differences were found in parental disciplinary style. Child self-regulated compliance was associated with parental supportive disciplinary style and with child attention focusing. Findings highlight the importance of parental supportive presence in structuring the development of socialization in children with autism spectrum disorder. Implications for parent-child emotion regulation interventions are discussed. © The Author(s) 2015.

Role of macrophage migration inhibitory factor in age-related lung disease

PubMed Central

Sauler, Maor; Bucala, Richard

2015-01-01

The prevalence of many common respiratory disorders, including pneumonia, chronic obstructive lung disease, pulmonary fibrosis, and lung cancer, increases with age. Little is known of the host factors that may predispose individuals to such diseases. Macrophage migration inhibitory factor (MIF) is a potent upstream regulator of the immune system. MIF is encoded by variant alleles that occur commonly in the population. In addition to its role as a proinflammatory cytokine, a growing body of literature demonstrates that MIF influences diverse molecular processes important for the maintenance of cellular homeostasis and may influence the incidence or clinical manifestations of a variety of chronic lung diseases. This review highlights the biological properties of MIF and its implication in age-related lung disease. PMID:25957294

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome

PubMed Central

Young, Andrea S.; Shashi, Vandana; Schoch, Kelly; Kwapil, Thomas; Hooper, Stephen R.

2011-01-01

This study examines the rate of utilization of mental health services in children and adolescents with 22q11DS relative to their remarkably high rate of psychiatric disorders and behavior problems. Seventy-two children and adolescents with 22q11DS were participants; their parents completed the Diagnostic Interview Schedule for Children (DISC) and the Child Behavior Checklist (CBCL). The results indicated that 22q11DS children and adolescents have higher rates of psychopathology than the general pediatric population, with ADHD and anxiety disorders being the most common. However, among youth with 22q11DS, those with psychopathology are often no more likely to receive either pharmacological or non-pharmacological mental health care than those without a given psychiatric diagnosis. Thus, although psychopathology is fairly common in this sample, many children with 22q11DS may not be receiving needed psychiatric care. These results have significant implications for these children and their families, as well as for the health care providers who treat them. In particular, the results may suggest a need for careful screening of psychiatric disorders that are likely to affect this population as well, as making appropriate treatment recommendations to remedy childhood mental health problems. Since these children face an extraordinarily high risk of psychoses in late adolescence/adulthood, treatment of childhood psychopathology could be crucial in mitigating the risk/consequences of major psychiatric illnesses in later life. PMID:21743818

Antisocial personality disorder and psychopathy in women: a literature review on the reliability and validity of assessment instruments.

PubMed

Dolan, Mairead; Völlm, Birgit

2009-01-01

Crime rates are low in women compared to men. The two disorders most commonly associated with offending behaviour, antisocial personality disorder (ASPD) and psychopathy, are also less prevalent in female samples. However, developments in forensic psychiatry have often ignored gender, and the utility of constructs such as psychopathy and their assessment instruments in female samples remains unclear. This article presents a review of studies looking at rates of ASPD and psychopathy and on the reliability and validity of assessment instruments of these disorders in women. Gender differences in symptom patterns will be considered. The literature seems to suggest that DSM-IV criteria for ASPD may lead to an underestimation of the prevalence of the disorder in women due to the requirement of childhood conduct disorder symptoms. The Psychopathy Checklist-Revised (PCL-R) is a valid and reliable instrument to identify psychopathy in women but there are gender differences in the factor structure and item loadings on this measure. Research to date seems to suggest a three-factor model may be most strongly supported in females. Preliminary evidence suggests the PCL-R may have some value in predicting future offending while the PCL:SV may be useful in predicting institutional violence. Clinical implications are discussed.

Acute dyskinetic reaction in a healthy toddler following methylphenidate ingestion.

PubMed

Waugh, Jeff L

2013-07-01

Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can also trigger acute dyskinesias. This has been previously reported only in patients also taking dopamine antagonists or, less commonly, in children with developmental abnormalities. The present report describes a previously healthy toddler who developed transient torticollis and orolingual dyskinesias following accidental exposure to methylphenidate. He had no preexisting movement disorder, central nervous system injury, or developmental abnormalities--in short, none of the previously reported risk factors for this side effect. The unique features of this case led to the hypothesis that developmental shifts in dopamine signaling were the basis for his particular sensitivity to methylphenidate. If confirmed, this hypothesis has implications for the treatment of common childhood attentional and behavioral disorders. The article includes a literature review of dyskinetic/dystonic reactions in children and the developmental regulation of dopamine metabolism. Copyright © 2013 Elsevier Inc. All rights reserved.

Rosacea, Reactive Oxygen Species, and Azelaic Acid

PubMed Central

2009-01-01

Rosacea is a common skin condition thought to be primarily an inflammatory disorder. Neutrophils, in particular, have been implicated in the inflammation associated with rosacea and mediate many of their effects through the release of reactive oxygen species. Recently, the role of reactive oxygen species in the pathophysiology of rosacea has been recognized. Many effective agents for rosacea, including topical azelaic acid and topical metronidazole, have anti-inflammatory properties. in-vitro models have demonstrated the potent antioxidant effects of azelaic acid, providing a potential mechanistic explanation for its efficacy in the treatment of rosacea. PMID:20967185

Rosacea, reactive oxygen species, and azelaic Acid.

PubMed

Jones, David A

2009-01-01

Rosacea is a common skin condition thought to be primarily an inflammatory disorder. Neutrophils, in particular, have been implicated in the inflammation associated with rosacea and mediate many of their effects through the release of reactive oxygen species. Recently, the role of reactive oxygen species in the pathophysiology of rosacea has been recognized. Many effective agents for rosacea, including topical azelaic acid and topical metronidazole, have anti-inflammatory properties. in-vitro models have demonstrated the potent antioxidant effects of azelaic acid, providing a potential mechanistic explanation for its efficacy in the treatment of rosacea.

Functional dyspepsia and nonerosive reflux disease: clinical interactions and their implications.

PubMed

Keohane, John; Quigley, Eamonn M M

2007-08-08

Functional dyspepsia or nonulcer dyspepsia, and nonerosive reflux disease (NERD) or endoscopy-negative reflux disease, are common reasons for referral to a gastroenterologist. Although there is much confusion with regard to definition, recent research would suggest that these 2 conditions are linked and may represent components in the spectrum of the same disease entity, in terms of both symptoms and pathophysiology. Several theories have been proposed regarding the etiology of these disorders, including acid exposure, visceral hypersensitivity, impaired fundal accommodation, delayed gastric emptying, and Helicobacter pylori infection.

Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population

PubMed Central

McInnes, L. Alison; Service, Susan K.; Reus, Victor I.; Barnes, Glenn; Charlat, Olga; Jawahar, Satya; Lewitzky, Steve; Yang, Qing; Duong, Quyen; Spesny, Mitzi; Araya, Carmen; Araya, Xinia; Gallegos, Alvaro; Meza, Luis; Molina, Julio; Ramirez, Rolando; Mendez, Roxana; Silva, Sandra; Fournier, Eduardo; Batki, Steven L.; Mathews, Carol A.; Neylan, Thomas; Glatt, Charles E.; Escamilla, Michael A.; Luo, David; Gajiwala, Paresh; Song, Terry; Crook, Stephen; Nguyen, Jasmine B.; Roche, Erin; Meyer, Joanne M.; Leon, Pedro; Sandkuijl, Lodewijk A.; Freimer, Nelson B.; Chen, Hong

2001-01-01

We have searched for genes predisposing to bipolar disorder (BP) by studying individuals with the most extreme form of the affected phenotype, BP-I, ascertained from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The results of a previous linkage analysis on two extended CVCR BP-I pedigrees, CR001 and CR004, and of linkage disequilibrium (LD) analyses of a CVCR population sample of BP-I patients implicated a candidate region on 18p11.3. We further investigated this region by creating a physical map and developing 4 new microsatellite and 26 single-nucleotide polymorphism markers for typing in the pedigree and population samples. We report the results of fine-scale association analyses in the population sample, as well as evaluation of haplotypes in pedigree CR001. Our results suggest a candidate region containing six genes but also highlight the complexities of LD mapping of common disorders. PMID:11572994

BIPOLAR DISORDER AND SUBSTANCE ABUSE: PATHOLOGICAL AND THERAPEUTIC IMPLICATIONS OF THEIR COMORBIDITY AND CROSS SENSITIZATION

PubMed Central

Post, Robert M.; Kalivas, Peter

2015-01-01

Background Bipolar disorder has a high co-occurrence with substance abuse disorders, but the pathophysiological mechanisms have not been adequately explored. Aims Review the role of stress in the onset and recurrence of affective episodes and substance abuse. Method We review the mechanisms involved in sensitization (increased responsivity) to recurrence of stressors, mood episodes, and cocaine use. Results Evidence suggests that intermittent stressors, mood episodes, and bouts of cocaine use not only show sensitization to themselves, but cross sensitization to the others contributing to illness progression. However, common mechanisms of sensitization, (such as regionally selective alterations in brain derived neurotrophic factor (BDNF) and hyperactivity of striatally-based habit memories), could also result in single therapies (such as N-acetylcysteine) having positive effects in all 3 domains. Conclusions These interacting sensitization processes suggest the importance of early intervention in attempting to prevent increasingly severe manifestations of bipolar illness and substance abuse progression. PMID:23457180

Occlusal changes secondary to temporomandibular joint conditions: a critical review and implications for clinical practice

PubMed Central

CALDAS, Waleska; CONTI, Ana Cláudia de Castro Ferreira; JANSON, Guilherme; Paulo César Rodrigues, CONTI

2016-01-01

ABSTRACT The relationship between Temporomandibular Disorders (TMD) and malocclusion is an extremely critical issue in dentistry. Contrary to the old concept that malocclusion causes TMD, occlusal changes, especially those observed as sudden, may be secondary and reflect joint or muscle disorders due to the obvious connection between these structures and the dental occlusion. Objectives The aim of this article is to present the most commonly occlusal changes secondary to TMD. Methods The clinical presentation of these conditions is discussed. Details regarding diagnosis, treatment, and follow-up of patients presenting TMD prior or during treatment are also presented. Conclusions All plans for irreversible therapy should be preceded by a meticulous analysis of TMD signs and symptoms in such a way that patients are not submitted to irreversible treatment, based on an untrue occlusal relationship, secondary to articular and/or muscular disorders. When present, TMD symptoms must always be controlled to reestablish a “normal” occlusion and allow proper treatment strategy. PMID:27556214

Abnormal brain activation in excoriation (skin-picking) disorder: evidence from an executive planning fMRI study

PubMed Central

Odlaug, Brian L.; Hampshire, Adam; Chamberlain, Samuel R.; Grant, Jon E.

2016-01-01

Background Excoriation (skin-picking) disorder (SPD) is a relatively common psychiatric condition whose neurobiological basis is unknown. Aims To probe the function of fronto-striatal circuitry in SPD. Method Eighteen participants with SPD and 15 matched healthy controls undertook an executive planning task (Tower of London) during functional magnetic resonance imaging (fMRI). Activation during planning was compared between groups using region of interest and whole-brain permutation cluster approaches. Results The SPD group exhibited significant functional underactivation in a cluster encompassing bilateral dorsal striatum (maximal in right caudate), bilateral anterior cingulate and right medial frontal regions. These abnormalities were, for the most part, outside the dorsal planning network typically activated by executive planning tasks. Conclusions Abnormalities of neural regions involved in habit formation, action monitoring and inhibition appear involved in the pathophysiology of SPD. Implications exist for understanding the basis of excessive grooming and the relationship of SPD with putative obsessive–compulsive spectrum disorders. PMID:26159604

Binge-Eating Disorder and Comorbid Conditions: Differential Diagnosis and Implications for Treatment.

PubMed

Citrome, Leslie

2017-01-01

Many patients with symptoms of binge-eating disorder (BED) are not diagnosed. Perhaps the biggest obstacles are the failure of physicians to recognize BED as a distinct disorder and the lack of awareness among patients that binge-eating is a well-studied abnormal behavior that is amenable to treatment. In addition, patients may avoid seeking treatment because they feel a general sense of shame over their eating habits and do not want to bring up these symptoms during visits with their physicians. In general, negative attitudes and biases regarding overweight and obesity are common. The presence of medical and psychiatric comorbidities also contributes to the challenge of diagnosis, as many doctors focus on treating those comorbidities, thereby delaying treatment for the BED and leading to suboptimal care. Once BED is diagnosed along with any comorbid conditions, medications for the treatment of the comorbidities must be carefully considered so that BED symptoms are not exacerbated. © Copyright 2017 Physicians Postgraduate Press, Inc.

Alternatives to lithium and divalproex in the maintenance treatment of bipolar disorder.

PubMed

Gnanadesikan, Mukund; Freeman, Marlene P; Gelenberg, Alan J

2003-06-01

The role of lithium carbonate in the maintenance treatment of bipolar disorder is well established. Unfortunately, many patients fail to respond adequately to this agent or are unable to tolerate its adverse effects. Divalproex has become a commonly used alternative to lithium, but it also is ineffective or poorly tolerated in many patients. This article attempts to review the available data on maintenance therapy in bipolar disorder with a variety of anticonvulsants and antipsychotics (both conventional and novel), with reference to relevant studies in acute mania and bipolar depression as well. Evidence on maintenance therapy and relevant acute-phase data were collected using MEDLINE database searches. Data on maintenance therapy with agents other than lithium and divalproex are sparse, and often derived from open, uncontrolled studies. Implications and flaws of available data are discussed. Other than lithium, there are few robust double-blind data to support the use of a variety of agents in the maintenance phase. However, uncontrolled data suggest that a number of agents merit further study.

Fear of Vaginal Penetration in the Absence of Pain as a Separate Category of Female Sexual Dysfunction: A Conceptual Overview

PubMed Central

Rabinowitz, David; Lowenstein, Lior; Gruenwald, Ilan

2017-01-01

Functional sexual pain disorders in women are a particular challenge to the gynecologist, inasmuch as phobic avoidance and guarding on the part of the patient lead to difficulties in the gynecological examination and diagnosis. In some such cases examination may even be impossible. Vaginismus is the commonly diagnosed etiology of such cases. This article offers an overview of vaginismus and approaches to its treatment but also examines a subset of penetration-avoidant patients who do not appear to have a pain component. We have reviewed this separate category conceptually and clinically, and propose that this case subset be separated from the diagnosis of vaginismus and designated as vaginal penetration phobia (VPP). We further propose that this category be diagnosed as one of several possible presentations of phobic disorder, under the rubric of mental health disorder, and thus be separated from gynecology. The nosological implications are raised. PMID:28467769

Game Theory Paradigm: A New Tool for Investigating Social Dysfunction in Major Depressive Disorders

PubMed Central

Wang, Yun; Yang, Liu-Qing; Li, Shu; Zhou, Yuan

2015-01-01

Social dysfunction is a prominent source of distress and disability in patients with major depressive disorder (MDD) but is commonly omitted from current clinical studies, although some researchers propose an evolutionary strategy to understand these negative outcomes. Limited knowledge about the neural basis of social dysfunction in MDD results from traditional paradigms, which lack insights into social interactions. Game theoretical modeling offers a new tool for investigating social-interaction impairments in neuropsychiatric disorders. This review first introduces three widely used games from game theory and the major behavioral and neuroimaging findings obtained using these games in healthy populations. We also address the factors that modulate behaviors in games and their neural bases. We then summarize the current findings obtained by using these games in depressed patients and discuss the clinical implications of these abnormal game behaviors. Finally, we briefly discuss future prospects that may further elucidate the clinical use of a game theory paradigm in MDD. PMID:26441689

Game Theory Paradigm: A New Tool for Investigating Social Dysfunction in Major Depressive Disorders.

PubMed

Wang, Yun; Yang, Liu-Qing; Li, Shu; Zhou, Yuan

2015-01-01

Social dysfunction is a prominent source of distress and disability in patients with major depressive disorder (MDD) but is commonly omitted from current clinical studies, although some researchers propose an evolutionary strategy to understand these negative outcomes. Limited knowledge about the neural basis of social dysfunction in MDD results from traditional paradigms, which lack insights into social interactions. Game theoretical modeling offers a new tool for investigating social-interaction impairments in neuropsychiatric disorders. This review first introduces three widely used games from game theory and the major behavioral and neuroimaging findings obtained using these games in healthy populations. We also address the factors that modulate behaviors in games and their neural bases. We then summarize the current findings obtained by using these games in depressed patients and discuss the clinical implications of these abnormal game behaviors. Finally, we briefly discuss future prospects that may further elucidate the clinical use of a game theory paradigm in MDD.

Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

PubMed Central

Arloth, Janine; Bogdan, Ryan; Weber, Peter; Frishman, Goar; Menke, Andreas; Wagner, Klaus V.; Balsevich, Georgia; Schmidt, Mathias V.; Karbalai, Nazanin; Czamara, Darina; Altmann, Andre; Trümbach, Dietrich; Wurst, Wolfgang; Mehta, Divya; Uhr, Manfred; Klengel, Torsten; Erhardt, Angelika; Carey, Caitlin E.; Conley, Emily Drabant; Ripke, Stephan; Wray, Naomi R.; Lewis, Cathryn M.; Hamilton, Steven P.; Weissman, Myrna M.; Breen, Gerome; Byrne, Enda M.; Blackwood, Douglas H.R.; Boomsma, Dorret I.; Cichon, Sven; Heath, Andrew C.; Holsboer, Florian; Lucae, Susanne; Madden, Pamela A.F.; Martin, Nicholas G.; McGuffin, Peter; Muglia, Pierandrea; Noethen, Markus M.; Penninx, Brenda P.; Pergadia, Michele L.; Potash, James B.; Rietschel, Marcella; Lin, Danyu; Müller-Myhsok, Bertram; Shi, Jianxin; Steinberg, Stacy; Grabe, Hans J.; Lichtenstein, Paul; Magnusson, Patrik; Perlis, Roy H.; Preisig, Martin; Smoller, Jordan W.; Stefansson, Kari; Uher, Rudolf; Kutalik, Zoltan; Tansey, Katherine E.; Teumer, Alexander; Viktorin, Alexander; Barnes, Michael R.; Bettecken, Thomas; Binder, Elisabeth B.; Breuer, René; Castro, Victor M.; Churchill, Susanne E.; Coryell, William H.; Craddock, Nick; Craig, Ian W.; Czamara, Darina; De Geus, Eco J.; Degenhardt, Franziska; Farmer, Anne E.; Fava, Maurizio; Frank, Josef; Gainer, Vivian S.; Gallagher, Patience J.; Gordon, Scott D.; Goryachev, Sergey; Gross, Magdalena; Guipponi, Michel; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hoefels, Susanne; Hoogendijk, Witte; Hottenga, Jouke Jan; Iosifescu, Dan V.; Ising, Marcus; Jones, Ian; Jones, Lisa; Jung-Ying, Tzeng; Knowles, James A.; Kohane, Isaac S.; Kohli, Martin A.; Korszun, Ania; Landen, Mikael; Lawson, William B.; Lewis, Glyn; MacIntyre, Donald; Maier, Wolfgang; Mattheisen, Manuel; McGrath, Patrick J.; McIntosh, Andrew; McLean, Alan; Middeldorp, Christel M.; Middleton, Lefkos; Montgomery, Grant M.; Murphy, Shawn N.; Nauck, Matthias; Nolen, Willem A.; Nyholt, Dale R.; O’Donovan, Michael; Oskarsson, Högni; Pedersen, Nancy; Scheftner, William A.; Schulz, Andrea; Schulze, Thomas G.; Shyn, Stanley I.; Sigurdsson, Engilbert; Slager, Susan L.; Smit, Johannes H.; Stefansson, Hreinn; Steffens, Michael; Thorgeirsson, Thorgeir; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; van den Oord, Edwin J.C.G.; Van Grootheest, Gerard; Völzke, Henry; Weilburg, Jeffrey B.; Willemsen, Gonneke; Zitman, Frans G.; Neale, Benjamin; Daly, Mark; Levinson, Douglas F.; Sullivan, Patrick F.; Ruepp, Andreas; Müller-Myhsok, Bertram; Hariri, Ahmad R.; Binder, Elisabeth B.

2015-01-01

Summary Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation may mediate the risk for depression and other psychiatric disorders by altering a network of functionally related stress-sensitive genes in blood and brain. Video Abstract PMID:26050039

Proteomic pathway analysis of the hippocampus in schizophrenia and bipolar affective disorder implicates 14-3-3 signaling, aryl hydrocarbon receptor signaling, and glucose metabolism: potential roles in GABAergic interneuron pathology.

PubMed

Schubert, Klaus Oliver; Föcking, Melanie; Cotter, David R

2015-09-01

Neuropathological changes of the hippocampus have been associated with psychotic disorders such as schizophrenia and bipolar disorder. Recent work has particularly implicated hippocampal GABAergic interneurons in the pathophysiology of these diseases. However, the molecular mechanisms underlying structural and cellular hippocampal pathology remain poorly understood. We used data from comprehensive difference-in-gel electrophoresis (2-D DIGE) investigations of postmortem human hippocampus of people with schizophrenia and bipolar disorder, covering the acidic (isoelectric point (pI) between pH4 and 7) and, separately, the basic (pI between pH6 and 11) sub-proteome, for Ingenuity Pathway Analysis (IPA) of implicated protein networks and pathways. Comparing disease and control cases, we identified 58 unique differentially expressed proteins in schizophrenia, and 70 differentially expressed proteins in bipolar disorder, using mass spectrometry. IPA implicated, most prominently, 14-3-3 and aryl hydrocarbon receptor signaling in schizophrenia, and gluconeogenesis/glycolysis in bipolar disorder. Both disorders were characterized by alterations of proteins involved in the oxidative stress response, mitochondrial function, and protein-endocytosis, -trafficking, -degradation, and -ubiquitination. These findings are interpreted with a focus on GABAergic interneuron pathology in the hippocampus. Copyright © 2015 Elsevier B.V. All rights reserved.

How people evaluate others with social anxiety disorder: A comparison to depression and general mental illness stigma.

PubMed

Anderson, Kristin N; Jeon, Andrew B; Blenner, Jordan A; Wiener, Richard L; Hope, Debra A

2015-03-01

Despite the availability of effective interventions, most individuals with social anxiety disorder do not seek treatment. Given their fear of negative evaluation, socially anxious individuals might be especially susceptible to stigma concerns, a recognized barrier for mental health treatment. However, very little is known about the stigma specific to social anxiety disorder. In a design similar to Feldman and Crandall (2007), university undergraduate students read vignettes about target individuals with a generic mental illness label, major depressive disorder, and social anxiety disorder. Subjects rated each of 3 people in the vignettes on social distance and 17 dimensions including dangerousness, heritability and prevalence of the disorder, and gender ratio. Results indicated that being male and not having experience with mental health treatment was associated with somewhat greater preferred social distance. Multiple regression analyses revealed that being embarrassed by the disorder and dangerousness predicted social distance across all 3 vignettes. The vignette for social anxiety disorder had the most complex model and included work impairment, more common among women, and more avoidable. These results have implications for understanding the specific aspects of the stigma associated with social anxiety disorder. Public service messages to reduce stigma should focus on more accurate information about dangerousness and mental illness, given this is an established aspect of mental illness stigma. More nuanced messages about social anxiety might be best incorporated into the treatment referral process and as part of treatment. (c) 2015 APA, all rights reserved).

Neurological and Psychiatric Diseases and Their Unique Cognitive Profiles: Implications for Nursing Practice and Research

PubMed Central

Vance, David E.; Dodson, Joan E.; Watkins, Jason; Kennedy, Bridgett H.; Keltner, Norman L.

2013-01-01

To successfully negotiate and interact with one’s environment, optimal cognitive functioning is needed. Unfortunately, many neurological and psychiatric diseases impede certain cognitive abilities such as executive functioning or speed of processing; this can produce a poor fit between the patient and the cognitive demands of his or her environment. Such non-dementia diseases include bipolar disorder, schizophrenia, post-traumatic stress syndrome, depression, and anxiety disorders, just to name a few. Each of these diseases negatively affects particular areas of the brain, resulting in distinct cognitive profiles (e.g., deficits in executive functioning but normal speed of processing as seen in schizophrenia). In fact, it is from these cognitive deficits in which such behavioral and emotional symptoms may manifest (e.g., delusions, paranoia). This article highlights the distinct cognitive profiles of such common neurological and psychiatric diseases. An understanding of such disease-specific cognitive profiles can assist nurses in providing care to patients by knowing what cognitive deficits are associated with each disease and how these cognitive deficits impact everyday functioning and social interactions. Implications for nursing practice and research are posited within the framework of cognitive reserve and neuroplasticity. PMID:23422693

Practitioner Review: Multilingualism and neurodevelopmental disorders - an overview of recent research and discussion of clinical implications.

PubMed

Uljarević, Mirko; Katsos, Napoleon; Hudry, Kristelle; Gibson, Jenny L

2016-11-01

Language and communication skills are essential aspects of child development, which are often disrupted in children with neurodevelopmental disorders. Cutting edge research in psycholinguistics suggests that multilingualism has potential to influence social, linguistic and cognitive development. Thus, multilingualism has implications for clinical assessment, diagnostic formulation, intervention and support offered to families. We present a systematic review and synthesis of the effects of multilingualism for children with neurodevelopmental disorders and discuss clinical implications. We conducted systematic searches for studies on multilingualism in neurodevelopmental disorders. Keywords for neurodevelopmental disorders were based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition categories as follows; Intellectual Disabilities, Communication Disorders, Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder, Specific Learning Disorder, Motor Disorders, Other Neurodevelopmental Disorders. We included only studies based on empirical research and published in peer-reviewed journals. Fifty studies met inclusion criteria. Thirty-eight studies explored multilingualism in Communication Disorders, 10 in ASD and two in Intellectual Disability. No studies on multilingualism in Specific Learning Disorder or Motor Disorders were identified. Studies which found a disadvantage for multilingual children with neurodevelopmental disorders were rare, and there appears little reason to assume that multilingualism has negative effects on various aspects of functioning across a range of conditions. In fact, when considering only those studies which have compared a multilingual group with developmental disorders to a monolingual group with similar disorders, the findings consistently show no adverse effects on language development or other aspects of functioning. In the case of ASD, a positive effect on communication and social functioning has been observed. There is little evidence to support the widely held view that multilingual exposure is detrimental to the linguistic or social development of individuals with neurodevelopmental disorders. However, we also note that the available pool of studies is small and the number of methodologically high quality studies is relatively low. We discuss implications of multilingualism for clinical management of neurodevelopmental disorders, and discuss possible directions for future research. © 2016 Association for Child and Adolescent Mental Health.

A meta-analysis of the relation of intolerance of uncertainty to symptoms of generalized anxiety disorder, major depressive disorder, and obsessive-compulsive disorder.

PubMed

Gentes, Emily L; Ruscio, Ayelet Meron

2011-08-01

Intolerance of uncertainty (IU) has been suggested to reflect a specific risk factor for generalized anxiety disorder (GAD), but there have been no systematic attempts to evaluate the specificity of IU to GAD. This meta-analysis examined the cross-sectional association of IU with symptoms of GAD, major depressive disorder (MDD), and obsessive-compulsive disorder (OCD). Random effects analyses were conducted for two common definitions of IU, one that has predominated in studies of GAD (56 effect sizes) and another that has been favored in studies of OCD (29 effect sizes). Using the definition of IU developed for GAD, IU shared a mean correlation of .57 with GAD, .53 with MDD, and .50 with OCD. Using the alternate definition developed for OCD, IU shared a mean correlation of .46 with MDD and .42 with OCD, with no studies available for GAD. Post-hoc significance tests revealed that IU was more strongly related to GAD than to OCD when the GAD-specific definition of IU was used. No other differences were found in the magnitude of associations between IU and the three syndromes. We discuss implications of these findings for models of shared and specific features of emotional disorders and for future research efforts. Copyright © 2011 Elsevier Ltd. All rights reserved.

Common variants on chromosome 6p22.1 are associated with schizophrenia

PubMed Central

Shi, Jianxin; Levinson, Douglas F.; Duan, Jubao; Sanders, Alan R.; Zheng, Yonglan; Pe'er, Itsik; Dudbridge, Frank; Holmans, Peter A.; Whittemore, Alice S.; Mowry, Bryan J.; Olincy, Ann; Amin, Farooq; Cloninger, C. Robert; Silverman, Jeremy M.; Buccola, Nancy G.; Byerley, William F.; Black, Donald W.; Crowe, Raymond R.; Oksenberg, Jorge R.; Mirel, Daniel B.; Kendler, Kenneth S.; Freedman, Robert; Gejman, Pablo V.

2009-01-01

Schizophrenia, a devastating psychiatric disorder, has a prevalence of 0.5–1%, with high heritability (80–85%) and complex transmission.1 Recent studies implicate rare, large, high-penetrance copy number variants (CNVs) in some cases2, but it is not known what genes or biological mechanisms underlie susceptibility. Here we show that schizophrenia is significantly associated with single nucleotide polymorphisms (SNPs) in the extended Major Histocompatibility Complex (MHC) region on chromosome 6. We carried out a genome-wide association study (GWAS) of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample, and then a meta-analysis of data from the MGS, International Schizophrenia Consortium (ISC) and SGENE datasets. No MGS finding achieved genome-wide statistical significance. In the meta-analysis of European-ancestry subjects (8,008 cases, 19,077 controls), significant association with schizophrenia was observed in a region of linkage disequilibrium on chromosome 6p22.1 (P = 9.54 × 10−9). This region includes a histone gene cluster and several immunity-related genes, possibly implicating etiologic mechanisms involving chromatin modification, transcriptional regulation, auto-immunity and/or infection. These results demonstrate that common schizophrenia susceptibility alleles can be detected. The characterization of these signals will suggest important directions for research on susceptibility mechanisms. PMID:19571809

Treatment course and its predictors in patients with somatoform disorders: A routine outcome monitoring study in secondary psychiatric care.

PubMed

Carlier, I V E; Andree Wiltens, D H; van Rood, Y R; van Veen, T; Dekker, J; van Hemert, A M

2018-03-23

Somatoform disorders are common and often chronic. It would be helpful to distinguish those patients who are likely to have a positive treatment course from those who are likely to follow a negative course. Such studies of different somatoform disorders are scarce, especially in secondary psychiatric care. This study examined the 6-month treatment course of psychological, physical symptoms, and functioning, and its predictors in a naturalistic sample of secondary psychiatric care outpatients with somatoform disorders. The present study used routine outcome monitoring data of patients with somatoform disorders regarding their 6-month treatment course of psychological and physical symptoms as well as functioning. The following patient groups were included: total group of somatoform disorders (N = 435), and undifferentiated somatoform disorder (N = 242), pain disorder (N = 102), body dysmorphic disorder (N = 51), and hypochondriasis (N = 40). Measures were Mini-International Neuropsychiatric Interview plus, Brief Symptom Inventory, Montgomery-Ǻsberg Depression Rating Scale, Brief Anxiety Scale, Short Form Health Survey 36, and Physical Symptom Checklist (PSC). The study population generally showed high co-morbidity, especially with anxiety and mood disorders. The PSC total score, body dysmorphic disorder, and hypochondriasis were significant predictors for the treatment course of symptoms (Brief Symptom Inventory), whereas the PSC total score was the only significant predictor for the course of functioning (Short Form Health Survey 36). Secondary psychiatric care outpatients with somatoform disorders showed high co-morbidity with anxiety and mood disorders, and an unfavourable 6-month course of both symptoms and functioning. Clinical implications are discussed, such as additional treatment of co-morbidity in somatoform disorders. Copyright © 2018 John Wiley & Sons, Ltd.

The Happy Older Latinos are Active (HOLA) health promotion and prevention study: study protocol for a pilot randomized controlled trial.

PubMed

Jimenez, Daniel E; Reynolds, Charles F; Alegría, Margarita; Harvey, Philip; Bartels, Stephen J

2015-12-18

Results of previous studies attest to the greater illness burden of common mental disorders (anxiety and depression) in older Latinos and the need for developing preventive interventions that are effective, acceptable, and scalable. Happy Older Latinos are Active (HOLA) is a newly developed intervention that uses a community health worker (CHW) to lead a health promotion program in order to prevent common mental disorders among at-risk older Latinos. This pilot study tests the feasibility and acceptability of delivering HOLA to older, at-risk Latinos. HOLA is a multi-component, health promotion intervention funded by the National Institute of Mental Health (NIMH). This prevention approach will be tested against a fotonovela, an enhanced psychoeducation control condition, in a sample of Latino elderly with minor or subthreshold depression or anxiety. A total of 60 older Latinos (aged 60+) will be randomized to receive HOLA or the fotonovela. The primary outcomes of interest are recruitment, adherence, retention, and acceptability. Data will also be collected on: preemption of incident and recurrent major depression, generalized anxiety, and social phobia; reduction in depression and anxiety symptom severity; physical functioning; sedentary behaviors; social engagement; and self-efficacy. The results of this study could have implications for other high-risk, highly disadvantaged populations. The development of a health promotion intervention designed to prevent common mental disorders could be a means of addressing multiple disparities (for example, mental health outcomes, mental health service use, stigma) among racial/ethnic minority elderly. CLINICALTRIALS. NCT02371954 . Date of registration: 21 January 2015.

Understanding Bipolar Disorder: Implications for Mental Health Counselors.

ERIC Educational Resources Information Center

Withrow, J. Steve; Hinkle, J. Scott

1990-01-01

Provides an overview of bipolar disorder, including a discussion of diagnostic indicators, etiological theories, and psychopharmacological treatment. Examines treatment implications for mental health counselors, including role in psychiatric liaison, individual counseling, marriage and family therapy, and vocational counseling. (Author/ABL)

To tame a volcano: patients with borderline personality disorder and their perceptions of suffering.

PubMed

Perseius, Kent-Inge; Ekdahl, Susanne; Asberg, Marie; Samuelsson, Mats

2005-08-01

The aim of the study was to investigate life situations, suffering, and perceptions of encounter with psychiatric care among 10 patients with borderline personality disorder. The results are based on a hermeneutic interpretation of narrative interviews in addition to biographical material (diary excerpts and poems). The interpretation revealed three comprehensive theme areas: life on the edge , the struggle for health and dignity-a balance act on a slack wire over a volcano , and the good and the bad act of psychiatric care in the drama of suffering . These theme areas form a movement back and forth-from despair and unendurable suffering to struggle for health and dignity and a life worth living. Common beliefs regarding these patients among personnel and implications for psychiatric care are discussed in relation to the results.

Variety is not the spice of life for people with autism spectrum disorders: frequency ratings of central, variable and inappropriate aspects of common real-life events.

PubMed

Loth, Eva; Happé, Francesca; Gómez, Juan Carlos

2010-06-01

This study used a novel rating task to investigate whether high-functioning individuals with autism spectrum disorder (ASD) have difficulties distinguishing essential from variable aspects of familiar events. Participants read stories about everyday events and judged how often central, variable, and inappropriate event-components normally occur in this type of situation. The ASD boys made significantly more errors than the typically developing boys in rating the occurrences of variable aspects. In both groups, ratings of variable aspects were age-related, but in the ASD boys, they were also related to theory of mind and weak coherence test scores, and to severity of autistic symptoms. Implications for the understanding of some repetitive behaviours, such as the tendency to adhere to inflexible routines, are discussed.

Developmental neuroscience of time and number: implications for autism and other neurodevelopmental disabilities

PubMed Central

Allman, Melissa J.; Pelphrey, Kevin A.; Meck, Warren H.

2011-01-01

Estimations of time and number share many similarities in both non-humans and man. The primary focus of this review is on the development of time and number sense across infancy and childhood, and neuropsychological findings as they relate to time and number discrimination in infants and adults. Discussion of these findings is couched within a mode-control model of timing and counting which assumes time and number share a common magnitude representation system. A basic sense of time and number likely serves as the foundation for advanced numerical and temporal competence, and aspects of higher cognition—this will be discussed as it relates to typical childhood, and certain developmental disorders, including autism spectrum disorder. Directions for future research in the developmental neuroscience of time and number (NEUTIN) will also be highlighted. PMID:22408612

AMD and the alternative complement pathway: genetics and functional implications.

PubMed

Tan, Perciliz L; Bowes Rickman, Catherine; Katsanis, Nicholas

2016-06-21

Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized by the progressive breakdown of the macula (the central region of the retina), resulting in the loss of central vision including visual acuity. While its molecular etiology remains unclear, advances in genetics and genomics have illuminated the genetic architecture of the disease and have generated attractive pathomechanistic hypotheses. Here, we review the genetic architecture of AMD, considering the contribution of both common and rare alleles to susceptibility, and we explore the possible mechanistic links between photoreceptor degeneration and the alternative complement pathway, a cascade that has emerged as the most potent genetic driver of this disorder.

Further Studies on the Prevalence of Isolated Sleep Paralysis in Black Subjects

PubMed Central

Bell, Carl C.; Dixie-Bell, Dora D.; Thompson, Belinda

1986-01-01

In a previous study, one of the authors (C.C.B.) found isolated sleep paralysis was common in blacks. In this study, conducted by interviews, a recurrent pattern (one or more episodes per month) of isolated sleep paralysis episodes in blacks was described by at least 25 percent of the afflicted sample studied. Frequent episodes were associated with stress, and subjects with isolated sleep paralysis had an unusually high prevalence of panic disorder (15.5 percent). The genetic transmission of sleep paralysis was studied in a large black family, and in addition to stressful environmental factors being associated with the condition, there appears to be a dominant genetic factor associated with the predisposition for developing sleep paralysis. The implications of these findings for stress, anxiety, sleep, and psychophysiologic disorders are discussed. PMID:3746934

[Implications of the new etiophatogenic approach in the classification of constitutional and genetic bone diseases].

PubMed

Morales Piga, Antonio; Alonso Ferreira, Verónica; Villaverde-Hueso, Ana

2011-01-01

Recent years have seen an unprecedented increase in the knowledge and understanding of biochemical disturbances involved on constitutional bone disorders. Recognition of the genetic background as the common cause of these diseases prompted the substitution of the term «constitutional» by «genetic», in referring to them. Understanding physiopathological bases by finding out the altered metabolic pathways as well as their regulatory and control systems, favours an earlier and more accurate diagnosis based on interdisciplinary collaboration. Although clinical and radiological assessment remains crucial in the study of these disorders, ever more often the diagnosis is achieved by molecular and genetic analysis. Elucidation of the damaged underlying molecular mechanisms offers targets potentially useful for therapeutic research in these complex and often disabling diseases. 2010 Elsevier España, S.L. All rights reserved.

Pi-Pi contacts are an overlooked protein feature relevant to phase separation

PubMed Central

Vernon, Robert McCoy; Chong, Paul Andrew; Tsang, Brian; Kim, Tae Hun; Bah, Alaji; Farber, Patrick; Lin, Hong

2018-01-01

Protein phase separation is implicated in formation of membraneless organelles, signaling puncta and the nuclear pore. Multivalent interactions of modular binding domains and their target motifs can drive phase separation. However, forces promoting the more common phase separation of intrinsically disordered regions are less understood, with suggested roles for multivalent cation-pi, pi-pi, and charge interactions and the hydrophobic effect. Known phase-separating proteins are enriched in pi-orbital containing residues and thus we analyzed pi-interactions in folded proteins. We found that pi-pi interactions involving non-aromatic groups are widespread, underestimated by force-fields used in structure calculations and correlated with solvation and lack of regular secondary structure, properties associated with disordered regions. We present a phase separation predictive algorithm based on pi interaction frequency, highlighting proteins involved in biomaterials and RNA processing. PMID:29424691

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

PubMed

Gillentine, M A; Berry, L N; Goin-Kochel, R P; Ali, M A; Ge, J; Guffey, D; Rosenfeld, J A; Hannig, V; Bader, P; Proud, M; Shinawi, M; Graham, B H; Lin, A; Lalani, S R; Reynolds, J; Chen, M; Grebe, T; Minard, C G; Stankiewicz, P; Beaudet, A L; Schaaf, C P

2017-03-01

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.

Mimics and chameleons in motor neurone disease

PubMed Central

Turner, Martin R; Talbot, Kevin

2013-01-01

The progression of motor neurone disease (MND) is currently irreversible, and the grave implications of diagnosis naturally fuels concern among neurologists over missing a potential mimic disorder. There is no diagnostic test for MND but in reality there are few plausible mimics in routine clinical practice. In the presence of a progressive pure motor disorder, signs such as florid fasciculations, bilateral tongue wasting, the ‘split hand’, head drop, emotionality, and cognitive or behavioural impairment carry high positive predictive value. MND is clinically heterogeneous, however, with some important chameleon-like presentations and considerable variation in clinical course. Lack of confidence about the scope of such variation, or an approach to diagnosis emphasising investigations over clinical common sense, has the potential to exacerbate diagnostic delay in MND and impede timely planning of the care which is essential to maximising quality of life. PMID:23616620

Violence, mental health and violence risk factors among women in the general population: an0020epidemiology study based on two national household surveys in the UK

PubMed Central

2013-01-01

Background Females who perpetrated violence in the community have important mental health and public protection implications. There is a dearth of research in this area. This study investigated the prevalence of psychiatric morbidity, personality disorders as well as victim characteristics and violence risk factors of women in the community who self-reported violence against others. Methods The study sample consisted of 8,275 community women aged 16–74 years obtained from the 2000 and 2007 UK national psychiatric morbidity surveys. Self report incidences of violence, personality disorders and the presence of psychiatric symptoms were assessed by interviews and/or established structured psychiatric assessment protocols. Results Weighted prevalence of female violence, which primarily involved partners and friends, was 5.5% in 2000 and 5.1% in 2007. Violence-prone women also had significantly higher prevalence of common mental disorders and comorbidity (adjusted odds ratio 3.3 and 2.9 respectively) than non-violent women. Multivariate analyses identified eight significant risk factors that characterized violence prone women: young age, residing in social-assisted housing, presence of early conduct problems, victim of domestic violence, self-harming, excessive drinking and past criminal justice involvements. Conclusion A higher prevalence of common mental disorders and some types of personality disorder was found among violence prone women compared to their non-violence prone counterparts. The identified violence risk factors could be used to develop a quick and easily administered rating tool suitable for use by non-mental health trained frontline workers such as police and social support workers in the community to identify violence-prone women. Mental health and support services then can be provided to them for mental health care and violence prevention purposes. PMID:24165544

Skin Prick Test in Patients with Chronic Allergic Skin Disorders

PubMed Central

Bains, Pooja; Dogra, Alka

2015-01-01

Background: Chronic allergic skin disorders are the inflammatory and proliferative conditions in which both genetic and environmental factors play important roles. Chronic idiopathic urticaria (CIU) and atopic dermatitis (AD) are among the most common chronic allergic skin disorders. These can be provoked by various food and aeroallergens. Skin prick tests (SPTs) represent the cheapest and most effective method to diagnose type I hypersensitivity. Positive skin tests with a history suggestive of clinical sensitivity strongly incriminate the allergen as a contributor to the disease process. Aims and Objectives: To determine the incidence of positive SPT in patients with chronic allergic skin disorders and to identify the various allergens implicated in positive SPT. Methods: Fifty patients of chronic allergic disorders were recruited in this study. They were evaluated by SPT with both food and aeroallergens. Results: In our study, SPT positivity in patients of CIU was 63.41% and in AD was 77.78%. Out of the 41 patients of CIU, the most common allergen groups showing SPT positivity were dust and pollen, each comprising 26.83% patients. SPT reaction was positive with food items (21.6%), insects (17.07%), fungus (12.20%), and Dermatophagoides farinae, that is, house dust mite (HDM) (7.32%). The allergen which showed maximum positivity was grain dust wheat (19.51%). Among nine patients of AD, maximum SPT positivity was seen with Dermatophagoides farinae, pollen Amaranthus spinosus, grain dust wheat, and cotton mill dust; each comprising 22.22% of patients. Conclusion: Our study showed that a significant number of patients of CIU and AD showed sensitivity to dust, pollen, insects, Dermatophagoides farinae, and fungi on SPT. Thus, it is an important tool in the diagnosis of CIU and AD. PMID:25814704

Clinical Implications of DSM-IV Subtyping of Bipolar Disorders in Referred Children and Adolescents

ERIC Educational Resources Information Center

Masi, Gabriele; Perugi, Giulio; Millepiedi, Stefania; Mucci, Maria; Pari, Cinzia; Pfanner, Chiara; Berloffa, Stefano; Toni, Cristina

2007-01-01

Objective: According to DSM-IV, bipolar disorders (BDs) include four subtypes, BD I, BD II, cyclothymic disorder, and BD not otherwise specified (NOS). We explore the clinical implications of this subtyping in a naturalistic sample of referred youths with BD I, BD II, and BD-NOS. Method: The sample consisted of 217 patients, 135 males and 82…

Anxious Imagery in Children with and without Autism Spectrum Disorder: An Investigation into Occurrence, Content, Features and Implications for Therapy

ERIC Educational Resources Information Center

Ozsivadjian, Ann; Hollocks, Matthew J.; Southcott, Jess; Absoud, Michael; Holmes, Emily

2017-01-01

Mental imagery has been implicated in anxiety disorders in adults, but has not been investigated in child and adolescent populations. Anxiety is highly prevalent in autism spectrum disorder (ASD), and as people with ASD are often thought of as "visual thinkers," the potential role of distressing imagery in children with ASD merits…

Neuroimaging in Posttraumatic Stress Disorder and Other Stress-related Disorders

PubMed Central

Bremner, J. Douglas

2009-01-01

Synopsis Traumatic stress has a broad range of effects on the brain. Brain areas implicated in the stress response include the amygdala, hippocampus, and prefrontal cortex. Studies in patients with posttraumatic stress disorder (PTSD) and other psychiatric disorders related to stress have replicated findings in animal studies by finding alterations in these brain areas. Brain regions implicated in PTSD also play an important role in memory function, highlighting the important interplay between memory and the traumatic stress response. Abnormalities in these brain areas are hypothesized to underlie symptoms of PTSD and other stress-related psychiatric disorders. PMID:17983968

Chocolate craving and disordered eating. Beyond the gender divide?

PubMed

Hormes, Julia M; Orloff, Natalia C; Timko, C Alix

2014-12-01

Chocolate craving in women has previously been linked to disordered eating behaviors. A relatively higher prevalence of eating disorder pathology may account for the fact that chocolate craving is significantly more common in women in North America, compared to many other countries. While support for a causal role of disordered eating in the etiology of craving in women is growing, little is known about the extent to which food cravings are associated with disordered eating behaviors in men. This study was designed to systematically assess the impact of gender and chocolate craving on measures of attitudes to chocolate, responsiveness to food cues in the environment, body shape dissatisfaction, dietary restraint, and eating disorder and general pathology. Undergraduate men and women (n = 645, 37.2% male) were invited to complete self-report questionnaires assessing demographics, height and weight, food cravings, dietary attitudes and behaviors, along with eating disorder and general pathology. Data suggest that the relationship between chocolate craving and disordered eating behaviors in men is the opposite of what has previously been observed in women: compared to non-cravers, male chocolate cravers reported significantly more guilt related to craving, but were significantly less likely to diet and reported lower levels of dietary restraint, less frequent weight fluctuations, and fewer symptoms of eating disorders. Findings indicate that a positive relationship between disordered eating behaviors and chocolate craving may be unique to women (and potentially women in North America). Findings have important implications for our understanding of cultural and psychosocial factors involved in the etiology of food cravings. Copyright © 2014 Elsevier Ltd. All rights reserved.

Dimensional psychiatry: reward dysfunction and depressive mood across psychiatric disorders.

PubMed

Hägele, Claudia; Schlagenhauf, Florian; Rapp, Michael; Sterzer, Philipp; Beck, Anne; Bermpohl, Felix; Stoy, Meline; Ströhle, Andreas; Wittchen, Hans-Ulrich; Dolan, Raymond J; Heinz, Andreas

2015-01-01

A dimensional approach in psychiatry aims to identify core mechanisms of mental disorders across nosological boundaries. We compared anticipation of reward between major psychiatric disorders, and investigated whether reward anticipation is impaired in several mental disorders and whether there is a common psychopathological correlate (negative mood) of such an impairment. We used functional magnetic resonance imaging (fMRI) and a monetary incentive delay (MID) task to study the functional correlates of reward anticipation across major psychiatric disorders in 184 subjects, with the diagnoses of alcohol dependence (n = 26), schizophrenia (n = 44), major depressive disorder (MDD, n = 24), bipolar disorder (acute manic episode, n = 13), attention deficit/hyperactivity disorder (ADHD, n = 23), and healthy controls (n = 54). Subjects' individual Beck Depression Inventory-and State-Trait Anxiety Inventory-scores were correlated with clusters showing significant activation during reward anticipation. During reward anticipation, we observed significant group differences in ventral striatal (VS) activation: patients with schizophrenia, alcohol dependence, and major depression showed significantly less ventral striatal activation compared to healthy controls. Depressive symptoms correlated with dysfunction in reward anticipation regardless of diagnostic entity. There was no significant correlation between anxiety symptoms and VS functional activation. Our findings demonstrate a neurobiological dysfunction related to reward prediction that transcended disorder categories and was related to measures of depressed mood. The findings underline the potential of a dimensional approach in psychiatry and strengthen the hypothesis that neurobiological research in psychiatric disorders can be targeted at core mechanisms that are likely to be implicated in a range of clinical entities.

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.

The relationship between perfectionism, eating disorders and athletes: a review.

PubMed

Forsberg, S; Lock, J

2006-12-01

Perfectionism is a potentially maladaptive personality trait implicated in a number of psychopathologies. As our understanding of the construct perfectionism has shifted from more unidimensionally focused conceptualizations to multidimensional ones, our ability to assess its bearing on various disorders has grown. One particular area in which perfectionism appears to play an important role is among eating disorder patients. The personalities of both those with anorexia nervosa (AN) and bulimia nervosa (BN) are thought to be intrinsically perfectionistic, which suggests a need to understand the role perfectionism plays in the development, course and outcome of these disorders. There is also an increased focus on perfectionism among athletes and its relationship to the higher prevalence of eating disorders in this group. With the institution of Title IX in the United States (which prohibited sex discrimination in higher educational settings) the participation of women in various sports has increased exponentially and with it concerns about their well-being in a milieu where a risk for menstrual irregularities, osteoporosis and eating disorders (the female athlete triad) are common. However, conflicting data suggests that athletics may be a protective factor in the development of eating disorders on the one hand, or it may be a risk factor on the other. Thus, it has become important to examine other variables, such as perfectionism, that may influence the outcome, one way or another. This review examines the current evidence about the relations between perfectionism, athletics and eating disorders.

Genetics and Common Disorders: Implications for Primary Care and Public Health Providers

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

McInerney, Joseph D.; Greendale, Karen; Peay, Holly L.

We developed this program for primary care providers (PCPs) and public health professionals (PHPs) who are interested in increasing their understanding of the genetics of common chronic diseases and of the implications of genetics and genomics for their fields. The program differs from virtually all previous educational efforts in genetics for health professionals in that it focuses on the genetics of common chronic disease and on the broad principles that emerge when one views disease from the perspectives of variation and individuality, which are at the heart of thinking genetically. The CD-ROM introduces users to content that will improve theirmore » understanding of topics such as: • A framework for genetics and common disease; • Basic information on genetics, genomics, genetic medicine, and public health genetics, all in the context of common chronic disease; • The status of research on genetic contributions to specific common diseases, including a review of research methods; • Genetic/environmental interaction as the new “central dogma” of public health genetics; • The importance of taking and analyzing a family history; • The likely impact of potential gene discovery and genetic testing on genetic counseling and risk assessment and on the practices of PCPs and PHPs; • Stratification of populations into low-, moderate-, and high-risk categories; • The potential role of PCPs and PHPs in identifying high-risk individuals and families, in providing limited genetics services, and in referring to clinical genetics specialists; the potential for standard referral algorithms; • Implications of genetic insights for diagnosis and treatment; • Ethical, legal, and social issues that arise from genetic testing for common chronic diseases; and • Specific prevention strategies based on understanding of genetics and genetic/ environmental interactions. The interactive content – developed by experts in genetics, primary care, and public health – is organized around two case studies designed to appeal to primary care providers (thrombophilia) and public health professionals (development of a screening grogram for colorectal cancer). NCHPEG has distributed more than 0000 copies of the CD-ROM to NCHPEG member organizations and to other organizations and individuals in response to requests. The program also is available at www.nchpeg.org.« less

Drug and Alcohol Exposed Children: Implications for Special Education for Students Identified as Behaviorally Disordered.

ERIC Educational Resources Information Center

Bauer, Anne M.

1991-01-01

This article reviews the literature on children prenatally exposed to drugs and alcohol, the potential impact on the educational and social services systems, and implications for programing for children identified as behaviorally disordered. (Author/JDD)

The effect of Korean-group cognitive behavioural therapy among patients with panic disorder in clinic settings.

PubMed

Choi, Y S; Lee, E J; Cho, Y

2017-02-01

WHAT IS KNOWN ON THE SUBJECT?: Panic disorder patients display various panic-related physical symptoms and catastrophic misinterpretation of bodily sensations, which lower their quality of life by interfering with daily activities. Cognitive behavioural therapy (CBT) is a useful strategy for panic disorder patients to manage symptoms associated with inaccurate cognitive interpretation of situations resulting from the patient's cognitive vulnerability. In South Korea, however, despite the increasing prevalence of panic disorder, CBT is not a common element of nursing care plans for panic disorder patients. Moreover, few Korean researchers have attempted to assess the effects of CBT on such patients. WHAT THIS PAPER ADD TO EXISTING KNOWLEDGE?: In a strategy combining CBT and routine treatments, patients with panic disorder can experience greater positive effects in the acute treatment phase than those they experience when receiving only routine treatment. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Mental health professionals, especially psychiatric nurses in local clinics who operate most special mental health programmes for panic disorder patients, should apply a panic disorder management programme that integrates CBT and routine treatments. The integrated approach is more effective for reducing the number of panic attacks and cognitive misinterpretation in patients than providing routine treatment alone. For patients with panic disorder, the objective of CBT is to understand the relationship between psychological panic disorder sensations, emotions, thoughts and behaviours. Therefore, nurses can help patients address and improve biological, social and psychological aspects of physical health problems as well as help them improve their coping skills in general. Introduction In panic disorder, sensitivity to bodily sensations increases due to the patient's cognitive vulnerability. Cognitive behavioural therapy (CBT) can help to decrease sensitivity to bodily sensations by correcting these cognitive distortions by controlling negative thoughts and panic attacks. Aims This study verified whether group CBT is more effective than treatment as usual (TAU) in South Korean patients with panic disorder. Methods The study participants consisted of 76 panic disorder patients. Patients in the therapy condition attended sessions once a week for a total of 12 sessions in addition to drug treatment. Results In the therapy condition, there were significant decreases in panic-related bodily sensations and ranking and belief scores for catastrophic misinterpretation of external events. Discussion Group CBT, in comparison to TAU, decreases panic and agoraphobia symptom severity in South Korean patients with panic disorder. Our study provides evidence for the effectiveness of a panic disorder management programme that integrates group CBT and traditional pharmacotherapeutic treatment for patients with panic disorder. Implications for Practice The cognitive behavioural approach is needed to reduce panic and agoraphobia symptoms for hospitalized patients with panic disorder more than activity therapies, medications and supportive counselling by doctors and nurses. © 2016 John Wiley & Sons Ltd.

Common mental disorder and obesity: insight from four repeat measures over 19 years: prospective Whitehall II cohort study.

PubMed

Kivimäki, Mika; Lawlor, Debbie A; Singh-Manoux, Archana; Batty, G David; Ferrie, Jane E; Shipley, Martin J; Nabi, Hermann; Sabia, Séverine; Marmot, Michael G; Jokela, Markus

2009-10-06

To examine potential reciprocal associations between common mental disorders and obesity, and to assess whether dose-response relations exist. Prospective cohort study with four measures of common mental disorders and obesity over 19 years (Whitehall II study). Civil service departments in London. 4363 adults (28% female, mean age 44 years at baseline). Common mental disorder defined as general health questionnaire "caseness;" overweight and obesity based on Word Health Organization definitions. In models adjusted for age, sex, and body mass index at baseline, odds ratios for obesity at the fourth screening were 1.33 (95% confidence interval 1.00 to 1.77), 1.64 (1.13 to 2.36), and 2.01 (1.21 to 3.34) for participants with common mental disorder at one, two, or three preceding screenings compared with people free from common mental disorder (P for trend<0.001). The corresponding mean differences in body mass index at the most recent screening were 0.20, 0.31, and 0.50 (P for trend<0.001). These associations remained after adjustment for baseline characteristics related to mental health and exclusion of participants who were obese at baseline. In addition, obesity predicted future risk of common mental disorder, again with evidence of a dose-response relation (P for trend=0.02, multivariable model). However, this association was lost when people with common mental disorder at baseline were excluded (P for trend=0.33). These findings suggest that in British adults the direction of association between common mental disorders and obesity is from common mental disorder to increased future risk of obesity. This association is cumulative such that people with chronic or repeat episodes of common mental disorder are particularly at risk of weight gain.

Iodide transport: implications for health and disease

PubMed Central

2014-01-01

Disorders of the thyroid gland are among the most common conditions diagnosed and managed by pediatric endocrinologists. Thyroid hormone synthesis depends on normal iodide transport and knowledge of its regulation is fundamental to understand the etiology and management of congenital and acquired thyroid conditions such as hypothyroidism and hyperthyroidism. The ability of the thyroid to concentrate iodine is also widely used as a tool for the diagnosis of thyroid diseases and in the management and follow up of the most common type of endocrine cancers: papillary and follicular thyroid cancer. More recently, the regulation of iodide transport has also been the center of attention to improve the management of poorly differentiated thyroid cancer. Iodine deficiency disorders (goiter, impaired mental development) due to insufficient nutritional intake remain a universal public health problem. Thyroid function can also be influenced by medications that contain iodide or interfere with iodide metabolism such as iodinated contrast agents, povidone, lithium and amiodarone. In addition, some environmental pollutants such as perchlorate, thiocyanate and nitrates may affect iodide transport. Furthermore, nuclear accidents increase the risk of developing thyroid cancer and the therapy used to prevent exposure to these isotopes relies on the ability of the thyroid to concentrate iodine. The array of disorders involving iodide transport affect individuals during the whole life span and, if undiagnosed or improperly managed, they can have a profound impact on growth, metabolism, cognitive development and quality of life. PMID:25009573

Prevalence of Body Dysmorphic Disorder Among Patients Seeking Breast Reconstruction.

PubMed

Metcalfe, Drew B; Duggal, Claire S; Gabriel, Allen; Nahabedian, Maurice Y; Carlson, Grant W; Losken, Albert

2014-07-01

Body dysmorphic disorder (BDD) is characterized by a preoccupation with a slight or imagined defect in physical appearance. It has significant implications for patients who desire breast reconstruction, because patient satisfaction with the aesthetic outcome is a substantial contributor to the success of the procedure. The authors estimated the prevalence of BDD among women seeking breast reconstruction by surveying patients with the previously validated Dysmorphic Concerns Questionnaire (DCQ). One hundred eighty-eight women who presented for immediate or delayed breast reconstruction completed the DCQ anonymously, during initial consultation with a plastic surgeon. Two groups of respondents were identified: those who desired immediate reconstruction and those who planned to undergo delayed reconstruction. The prevalence of BDD among breast reconstruction patients was compared between the 2 groups, and the overall prevalence was compared with published rates for the general public. Body dysmorphic disorder was significantly more prevalent in breast reconstruction patients than in the general population (17% vs 2%; P < .001). It also was much more common among patients who planned to undergo delayed (vs immediate) reconstruction (34% vs 13%; P = .004). Relative to the general public, significantly more women who sought breast reconstruction were diagnosed as having BDD. Awareness of the potential for BDD will enable clinicians to better understand their patients' perspectives and discuss realistic expectations at the initial consultation. Future studies are warranted to examine the implications of BDD on patient satisfaction with reconstructive surgery. 3. © 2014 The American Society for Aesthetic Plastic Surgery, Inc.

Respiratory manifestations of panic disorder: causes, consequences and therapeutic implications.

PubMed

Sardinha, Aline; Freire, Rafael Christophe da Rocha; Zin, Walter Araújo; Nardi, Antonio Egidio

2009-07-01

Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD). Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship.

MULTIPLE PERSONALITY DISORDER FOLLOWING CONVERSION AND DISSOCIATIVE DISORDER NOS : A CASE REPORT

PubMed Central

Jhingan, Harsh Prem; Aggarwal, Neeruj; Saxena, Shekhar; Gupta, Dhanesh K.

2000-01-01

A case progressing from symptoms of conversion disorder to dissociative disorder and then to multiple personality disorder as per DSM-III-R criteria is being reported. The clinical implications are discussed. PMID:21407917

Prevalence of spinal disorders and their relationships with age and gender

PubMed Central

Alshami, Ali M.

2015-01-01

Objectives: To establish the period prevalence of spinal disorders referred to physical therapy in a university hospital over a 3-year period, and to determine the relationships of common spinal disorders with patients’ age and gender. Methods: This retrospective study was conducted in the Physical Therapy Department, King Fahd Hospital of the University, Dammam, Saudi Arabia. Computer data of all new electronic referrals from January 2011 to December 2013 were retrieved and reviewed. The computer data included demographic information, referring facility, and diagnosis/disorder. Results: One thousand six hundred and sixty-nine (28.1%) of all referred patients (5929) had spinal disorders. The most common disorders affected the lumbar spine (53.1%) and cervical spine (27.1%), and pain was the most common disorder. Neck pain (60.5%) was more common in patients <30 years old (p<0.001). Cervical spondylosis was common (~30%) in the >30 age groups. Spondylosis and low back pain were more prevalent in women (7.8% and 76.2%) than in men (73.9% and 3.3%). Conclusion: Spinal disorders were common compared with other disorders. Low back pain and neck pain were the most common spinal disorders. Age and gender were weakly related to some of the disorders that affected the lumbar and cervical spine. PMID:25987116

Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities.

PubMed

Ehlinger, Daniel G; Commons, Kathryn G

2017-10-01

Polymorphism in the gene CACNA1C, encoding the pore-forming subunit of Cav1.2 L-type calcium channels, has one of the strongest genetic linkages to schizophrenia, bipolar disorder and major depressive disorder: psychopathologies in which serotonin signaling has been implicated. Additionally, a gain-of-function mutation in CACNA1C is responsible for the neurodevelopmental disorder Timothy syndrome that presents with prominent behavioral features on the autism spectrum. Given an emerging role for serotonin in the etiology of autism spectrum disorders (ASD), we investigate the relationship between Cav1.2 and the ascending serotonin system in the Timothy syndrome type 2 (TS2-neo) mouse, which displays behavioral features consistent with the core triad of ASD. We find that TS2-neo mice exhibit enhanced serotonin tissue content and axon innervation of the dorsal striatum, as well as decreased serotonin turnover in the amygdala. These regionally specific alterations are accompanied by an enhanced active coping response during acute stress (forced swim), serotonin neuron Fos activity in the caudal dorsal raphe, and serotonin type 1A receptor-dependent feedback inhibition of the rostral dorsal raphe nuclei. Collectively, these results suggest that the global gain-of-function Cav1.2 mutation associated with Timothy syndrome has pleiotropic effects on the ascending serotonin system including neuroanatomical changes, regional differences in forebrain serotonin metabolism and feedback regulatory control mechanisms within the dorsal raphe. Altered activity of the ascending serotonin system continues to emerge as a common neural signature across several ASD mouse models, and the capacity for Cav1.2 L-type calcium channels to impact both serotonin structure and function has important implications for several neuropsychiatric conditions. © 2017 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

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.

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

PubMed

Kim, Daniel Seung; Burt, Amber A; Ranchalis, Jane E; Wilmot, Beth; Smith, Joshua D; Patterson, Karynne E; Coe, Bradley P; Li, Yatong K; Bamshad, Michael J; Nikolas, Molly; Eichler, Evan E; Swanson, James M; Nigg, Joel T; Nickerson, Deborah A; Jarvik, Gail P

2017-06-01

Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83. Separately, in 117 unrelated probands with sporadic ADHD, we sequenced a panel of 26 genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD) to evaluate whether variation in ASD/ID-associated genes were also present in participants with ADHD. Only one putative deleterious variant (Gln600STOP) in CHD1L was identified; this was found in a single proband. Notably, no other nonsense, splice, frameshift, or highly conserved missense variants in the 26 gene panel were identified and validated. These data suggest that de novo variant analysis in families with independently adjudicated sporadic ADHD diagnosis can identify novel genes implicated in ADHD pathogenesis. Moreover, that only one of the 128 cases (0.8%, 11 exome, and 117 MIP sequenced participants) had putative deleterious variants within our data in 26 genes related to ID and ASD suggests significant independence in the genetic pathogenesis of ADHD as compared to ASD and ID phenotypes. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Comprehensive gene- and pathway-based analysis of depressive symptoms in older adults.

PubMed

Nho, Kwangsik; Ramanan, Vijay K; Horgusluoglu, Emrin; Kim, Sungeun; Inlow, Mark H; Risacher, Shannon L; McDonald, Brenna C; Farlow, Martin R; Foroud, Tatiana M; Gao, Sujuan; Callahan, Christopher M; Hendrie, Hugh C; Niculescu, Alexander B; Saykin, Andrew J

2015-01-01

Depressive symptoms are common in older adults and are particularly prevalent in those with or at elevated risk for dementia. Although the heritability of depression is estimated to be substantial, single nucleotide polymorphism-based genome-wide association studies of depressive symptoms have had limited success. In this study, we performed genome-wide gene- and pathway-based analyses of depressive symptom burden. Study participants included non-Hispanic Caucasian subjects (n = 6,884) from three independent cohorts, the Alzheimer's Disease Neuroimaging Initiative (ADNI), the Health and Retirement Study (HRS), and the Indiana Memory and Aging Study (IMAS). Gene-based meta-analysis identified genome-wide significant associations (ANGPT4 and FAM110A, q-value = 0.026; GRM7-AS3 and LRFN5, q-value = 0.042). Pathway analysis revealed enrichment of association in 105 pathways, including multiple pathways related to ERK/MAPK signaling, GSK3 signaling in bipolar disorder, cell development, and immune activation and inflammation. GRM7, ANGPT4, and LRFN5 have been previously implicated in psychiatric disorders, including the GRM7 region displaying association with major depressive disorder. The ERK/MAPK signaling pathway is a known target of antidepressant drugs and has important roles in neuronal plasticity, and GSK3 signaling has been previously implicated in Alzheimer's disease and as a promising therapeutic target for depression. Our results warrant further investigation in independent and larger cohorts and add to the growing understanding of the genetics and pathobiology of depressive symptoms in aging and neurodegenerative disorders. In particular, the genes and pathways demonstrating association with depressive symptoms may be potential therapeutic targets for these symptoms in older adults.

The meanings of recovery from addiction: evolution and promises.

PubMed

El-Guebaly, Nady

2012-03-01

To review the evolution of the paradigm of recovery in addiction and its implications. A systematic literature review was conducted using the MEDLINE and PsychInfo databases over the past 10 years and key references from the retrieved literature. The historical evolution of the concept of recovery has been shaped by several driving forces, including consumer experience, the need to better define our treatment outcome and parallel elaboration of the concepts of health, quality of life, and chronic disorders. Similarities and differences with the concept of "recovery" in mental health and other biomedical fields are identified.The empirical basis is growing in support of various proposed attributions and features of recovery along with the temporal benchmarks involved. The various forms of recovery, such as "natural," "transformational," or "medication-assisted," describe a choice of pathways to a common goal.The management implications are far-reaching and call for system shifts from acute stabilization to sustained recovery, including the growth of alternative institutions, and roles complementary to mutual help. Tools for the sustenance of recovery, including educational kits, recovery workbooks, and e-recovery initiatives, are developing. Although first-person accounts of recovery abound, a more systematic empirical investigation of the concept has just begun, including demographic and cultural differences. Management implications are derived from the experience with other "mainstream" chronic disorders with treatment providing stabilization and initiation of recovery and a range of long-term resources becoming available to sustain it.

Stress and the Microbiota-Gut-Brain Axis in Visceral Pain: Relevance to Irritable Bowel Syndrome.

PubMed

Moloney, Rachel D; Johnson, Anthony C; O'Mahony, Siobhain M; Dinan, Timothy G; Greenwood-Van Meerveld, Beverley; Cryan, John F

2016-02-01

Visceral pain is a global term used to describe pain originating from the internal organs of the body, which affects a significant proportion of the population and is a common feature of functional gastrointestinal disorders (FGIDs) such as irritable bowel syndrome (IBS). While IBS is multifactorial, with no single etiology to completely explain the disorder, many patients also experience comorbid behavioral disorders, such as anxiety or depression; thus, IBS is described as a disorder of the gut-brain axis. Stress is implicated in the development and exacerbation of visceral pain disorders. Chronic stress can modify central pain circuitry, as well as change motility and permeability throughout the gastrointestinal (GI) tract. More recently, the role of the gut microbiota in the bidirectional communication along the gut-brain axis, and subsequent changes in behavior, has emerged. Thus, stress and the gut microbiota can interact through complementary or opposing factors to influence visceral nociceptive behaviors. This review will highlight the evidence by which stress and the gut microbiota interact in the regulation of visceral nociception. We will focus on the influence of stress on the microbiota and the mechanisms by which microbiota can affect the stress response and behavioral outcomes with an emphasis on visceral pain. © 2015 John Wiley & Sons Ltd.

Understanding the Molecular Mechanisms Underpinning Gene by Environment Interactions in Psychiatric Disorders: The FKBP5 Model.

PubMed

Matosin, Natalie; Halldorsdottir, Thorhildur; Binder, Elisabeth B

2018-05-15

Epidemiologic and genetic studies suggest common environmental and genetic risk factors for a number of psychiatric disorders, including depression, bipolar disorder, and schizophrenia. Genetic and environmental factors, especially adverse life events, not only have main effects on disease development but also may interact to shape risk and resilience. Such gene by adversity interactions have been described for FKBP5, an endogenous regulator of the stress-neuroendocrine system, conferring risk for a number of psychiatric disorders. In this review, we present a molecular and cellular model of the consequences of FKBP5 by early adversity interactions. We illustrate how altered genetic and epigenetic regulation of FKBP5 may contribute to disease risk by covering evidence from clinical and preclinical studies of FKBP5 dysregulation, known cell-type and tissue-type expression patterns of FKBP5 in humans and animals, and the role of FKBP5 as a stress-responsive molecular hub modulating many cellular pathways. FKBP5 presents the possibility to better understand the molecular and cellular factors contributing to a disease-relevant gene by environment interaction, with implications for the development of biomarkers and interventions for psychiatric disorders. Copyright © 2018 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Distinctive and common neural underpinnings of major depression, social anxiety, and their comorbidity

PubMed Central

Chen, Michael C.; Waugh, Christian E.; Joormann, Jutta; Gotlib, Ian H.

2015-01-01

Assessing neural commonalities and differences among depression, anxiety and their comorbidity is critical in developing a more integrative clinical neuroscience and in evaluating currently debated categorical vs dimensional approaches to psychiatric classification. Therefore, in this study, we sought to identify patterns of anomalous neural responding to criticism and praise that are specific to and common among major depressive disorder (MDD), social anxiety disorder (SAD) and comorbid MDD-SAD. Adult females who met formal diagnostic criteria for MDD, SAD or MDD-SAD and psychiatrically healthy participants underwent functional magnetic resonance imaging as they listened to statements directing praise or criticism at them or at another person. MDD groups showed reduced responding to praise across a distributed cortical network, an effect potentially mediated by thalamic nuclei undergirding arousal-mediated attention. SAD groups showed heightened anterior insula and decreased default-mode network response to criticism. The MDD-SAD group uniquely showed reduced responding to praise in the dorsal anterior cingulate cortex. Finally, all groups with psychopathology showed heightened response to criticism in a region of the superior frontal gyrus implicated in attentional gating. The present results suggest novel neural models of anhedonia in MDD, vigilance-withdrawal behaviors in SAD, and poorer outcome in MDD-SAD. Importantly, in identifying unique and common neural substrates of MDD and SAD, these results support a formulation in which common neural components represent general risk factors for psychopathology that, due to factors that are present at illness onset, lead to distinct forms of psychopathology with unique neural signatures. PMID:25038225

Auditory verbal hallucinations in schizophrenia and post-traumatic stress disorder: common phenomenology, common cause, common interventions?

PubMed

McCarthy-Jones, Simon; Longden, Eleanor

2015-01-01

Auditory verbal hallucinations (AVH: 'hearing voices') are found in both schizophrenia and post-traumatic stress disorder (PTSD). In this paper we first demonstrate that AVH in these two diagnoses share a qualitatively similar phenomenology. We then show that the presence of AVH in schizophrenia is often associated with earlier exposure to traumatic/emotionally overwhelming events, as it is by definition in PTSD. We next argue that the content of AVH relates to earlier traumatic events in a similar way in both PTSD and schizophrenia, most commonly having direct or indirect thematic links to emotionally overwhelming events, rather than being direct re-experiencing. We then propose, following cognitive models of PTSD, that the reconstructive nature of memory may be able to account for the nature of these associations between trauma and AVH content, as may threat-hypervigilance and the individual's personal goals. We conclude that a notable subset of people diagnosed with schizophrenia with AVH are having phenomenologically and aetiologically identical experiences to PTSD patients who hear voices. As such we propose that the iron curtain between AVH in PTSD (often termed 'dissociative AVH') and AVH in schizophrenia (so-called 'psychotic AVH') needs to be torn down, as these are often the same experience. One implication of this is that these trauma-related AVH require a common trans-diagnostic treatment strategy. Whilst antipsychotics are already increasingly being used to treat AVH in PTSD, we argue for the centrality of trauma-based interventions for trauma-based AVH in both PTSD and in people diagnosed with schizophrenia.

Auditory verbal hallucinations in schizophrenia and post-traumatic stress disorder: common phenomenology, common cause, common interventions?

PubMed Central

McCarthy-Jones, Simon; Longden, Eleanor

2015-01-01

Auditory verbal hallucinations (AVH: ‘hearing voices’) are found in both schizophrenia and post-traumatic stress disorder (PTSD). In this paper we first demonstrate that AVH in these two diagnoses share a qualitatively similar phenomenology. We then show that the presence of AVH in schizophrenia is often associated with earlier exposure to traumatic/emotionally overwhelming events, as it is by definition in PTSD. We next argue that the content of AVH relates to earlier traumatic events in a similar way in both PTSD and schizophrenia, most commonly having direct or indirect thematic links to emotionally overwhelming events, rather than being direct re-experiencing. We then propose, following cognitive models of PTSD, that the reconstructive nature of memory may be able to account for the nature of these associations between trauma and AVH content, as may threat-hypervigilance and the individual’s personal goals. We conclude that a notable subset of people diagnosed with schizophrenia with AVH are having phenomenologically and aetiologically identical experiences to PTSD patients who hear voices. As such we propose that the iron curtain between AVH in PTSD (often termed ‘dissociative AVH’) and AVH in schizophrenia (so-called ‘psychotic AVH’) needs to be torn down, as these are often the same experience. One implication of this is that these trauma-related AVH require a common trans-diagnostic treatment strategy. Whilst antipsychotics are already increasingly being used to treat AVH in PTSD, we argue for the centrality of trauma-based interventions for trauma-based AVH in both PTSD and in people diagnosed with schizophrenia. PMID:26283997

State-dependent and reflex drives to the upper airway: basic physiology with clinical implications

PubMed Central

Hughes, Stuart W.; Malhotra, Atul

2013-01-01

The root cause of the most common and serious of the sleep disorders is impairment of breathing, and a number of factors predispose a particular individual to hypoventilation during sleep. In turn, obstructive hypopneas and apneas are the most common of the sleep-related respiratory problems and are caused by dysfunction of the upper airway as a conduit for airflow. The overarching principle that underpins the full spectrum of clinical sleep-related breathing disorders is that the sleeping brain modifies respiratory muscle activity and control mechanisms and diminishes the ability to respond to respiratory distress. Depression of upper airway muscle activity and reflex responses, and suppression of arousal (i.e., “waking-up”) responses to respiratory disturbance, can also occur with commonly used sedating agents (e.g., hypnotics and anesthetics). Growing evidence indicates that the sometimes critical problems of sleep and sedation-induced depression of breathing and arousal responses may be working through common brain pathways acting on common cellular mechanisms. To identify these state-dependent pathways and reflex mechanisms, as they affect the upper airway, is the focus of this paper. Major emphasis is on the synthesis of established and recent findings. In particular, we specifically focus on 1) the recently defined mechanism of genioglossus muscle inhibition in rapid-eye-movement sleep; 2) convergence of diverse neurotransmitters and signaling pathways onto one root mechanism that may explain pharyngeal motor suppression in sleep and drug-induced brain sedation; 3) the lateral reticular formation as a key hub of respiratory and reflex drives to the upper airway. PMID:23970535

When Does Premature Treatment Termination Occur? Examining Session-by-Session Dropout Among Clients with Gambling Disorder.

PubMed

Pfund, Rory A; Peter, Samuel C; Whelan, James P; Meyers, Andrew W

2018-06-01

Premature termination challenges the successful outcomes of psychological treatments for gambling disorder. To date, research has primarily identified clients who are at particular risk for dropping out of treatment. A smaller but growing body of literature has investigated when dropout occurs. Typically, those studies have not considered improvement in psychological distress within their operationalizations of dropout and therefore may have misrepresented when dropout occurs. The current study examined when dropout occurs using an operationalization based on the criteria of attaining reliable change in a naturalistic sample of clients with gambling disorder, and the classification rates yielded from that operationalization were compared to the rates from a more common operationalization. Participants (n = 334) were clients meeting diagnostic criteria for gambling disorder at an outpatient private practice who completed a measure of psychological distress at baseline and prior to each subsequent treatment session. A survival analysis was conducted to determine temporal patterns of treatment dropout (i.e., clients who discontinued treatment before realizing reliable changes in psychological distress) and completion (i.e., clients who discontinued treatment after realizing reliable changes in distress) at each treatment session. Forty-nine percent of clients were classified as dropouts, and the majority of those clients did so in the first few sessions. The more common operationalization of dropout classified clients as dropouts when they had improved in their distress and clients as completers when they had not improved in their distress. Discussion centers on the implications of dropout occurring at various stages of treatment and future directions.

Comparative analysis of fracture characteristics of the developing mandible: the Mayo Clinic experience.

PubMed

Siwani, Rizwan; Tombers, Nicole M; Rieck, Kevin L; Cofer, Shelagh A

2014-07-01

To review and compare the epidemiology and treatment of mandibular fractures in subgroups of a pediatric population. We conducted a retrospective review of pediatric patients (age, ≤18 years) with mandibular fractures treated at our institution from January 1996 through November 2011. We identified 122 patients (93 [76%] male) with 216 mandibular fractures. The prevalent mechanisms of injury were motor vehicle accidents (n=52 [43%]), sports injuries (n=24 [20%]), and assault (n=13 [11%]). The most common fracture sites were subcondylar, parasymphyseal, angle, and body. Two patients (2%) were treated conservatively by observation only, 67 (55%) underwent maxillomandibular fixation alone, 41 (34%) underwent maxillomandibular fixation with plate fixation, and 7 (5.7%) underwent plate fixation only. The average duration of maxillomandibular fixation was 26 days (range, 7-49 days). Complications occurred in 11 patients (9.0%) over a mean follow-up of 92 days (range, 21-702 days). Fifty patients (41.0%) had comorbid conditions or a history of mental illness at the time of injury, including attention deficit hyperactivity disorder (n=11 [9%]), mental disorders other than attention deficit hyperactivity disorder (n=23 [19%]), and asthma (n=17 [14%]). Twenty-six patients (21%) had a history of substance use, the most common being tobacco (n=18 [15%]), alcohol (n=13 [11%]), and marijuana (n=11 [9%]). Treatment approach and outcomes were affected by age and fracture characteristics. In addition, a marked proportion of this cohort had preexisting mental disorders and history of substance use, which may have implications on treatment approach. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Distilling Common History and Practice Elements to Inform Dissemination: Hanf-Model BPT Programs as an Example

PubMed Central

Kaehler, Laura A.; Jacobs, Mary; Jones, Deborah J.

2016-01-01

There is a shift in evidence-based practice toward an understanding of the treatment elements that characterize empirically-supported interventions in general and the core components of specific approaches in particular. The evidence-base for Behavioral Parent Training (BPT), the standard of care for early-onset disruptive behavior disorders (Oppositional Defiant Disorder and Conduct Disorder), which frequently co-occur with Attention Deficit Hyperactivity Disorder, is well-established; yet, an ahistorical, program-specific lens tells little regarding how leaders, including Constance Hanf at the University of Oregon, shaped the common practice elements of contemporary evidence-based BPT. Accordingly, this review summarizes the formative work of Hanf, as well as the core elements, evolution, and extensions of her work, represented in Community Parent Education (COPE; Cunningham, Bremner, & Boyle, 1995; Cunningham, Bremner, Secord, & Harrison, 2009), Defiant Children (DC; Barkley 1987; Barkley, 2013), Helping the Noncompliant Child (HNC; Forehand & McMahon, 1981; McMahon & Forehand, 2003), Parent-Child Interaction Therapy (PCIT; Eyberg, & Robinson, 1982; Eyberg, 1988; Eyberg & Funderburk, 2011), and the Incredible Years (IY; Webster-Stratton, 1981; 1982; 2008). Our goal is not to provide an exhaustive review of the evidence-base for the Hanf-Model programs; rather, our intention is to provide a template of sorts from which agencies and clinicians can make informed choices about how and why they are using one program versus another, as well as how to make inform flexible use one program or combination of practice elements across programs, to best meet the needs of child clients and their families. Clinical implications and directions for future work are discussed. PMID:27389606

Comparison of the Morel Emotional Numbing Test for Posttraumatic Stress Disorder to the Word Memory Test in neuropsychological evaluations.

PubMed

Morel, Kenneth R

2008-03-01

The most commonly feigned cognitive and psychiatric disorders for survivors of traumatic injury are memory dysfunction and posttraumatic stress disorder (PTSD). The position of the National Academy of Neuropsychology is that symptom validity tests (SVTs) should be part of any comprehensive neuropsychological evaluation. In this article the Morel Emotional Numbing Test for Posttraumatic Stress Disorder (MENT), a SVT for PTSD, was compared to a SVT for memory, the Word Memory Test (WMT). Available archival data on 216 consecutive referrals for neuropsychological evaluations at the Veterans Affairs Tennessee Valley Healthcare System were reviewed. Of the total records reviewed 37 patients had been administered both the MENT and the WMT. The clinically recommended cutoff on the WMT was used as the main criterion to classify patients into two groups: simulating impairment or credible. The results indicated that the simulating impairment group had significantly more errors on the MENT than the credible group did (p <.0001). The criterion-related characteristics of the MENT in assessing response bias in relation to the WMT were confirmed Clinical and research implications of the utilization of the MENT are discussed in this study.

Quality of life and neurotic disorders in general healthcare.

PubMed

Herrman, Helen; Chopra, Prem

2009-01-01

To review recent findings on the relationship between neurotic disorders (specifically depression, anxiety and somatization) and function and quality of life (QoL) in patients with complex clinical presentations, and to consider the clinical and public health implications. The high prevalence of comorbid depression and anxiety among patients with general medical disorders is well known. The impact of the comorbidity on function in these patients is documented extensively. The study of their QoL is an emerging area of work, though its interpretation is controversial. The impact of somatization on function and QoL is less well studied. Recent findings emphasize the value of a common measure for QoL across health conditions. Depression, anxiety and somatization are a significant burden in the general population and failure to recognize and manage these problems in general healthcare contributes to delayed recovery. A holistic approach to symptom, disability and QoL assessment, done in awareness of possible measurement redundancy, is likely to assist better recognition and management of these conditions. Further research is needed on the effects on QoL of depression and anxiety in patients with general medical disorders and early detection and treatment of somatization.

The neurobiology of impulse control disorders in Parkinson's disease: from neurotransmitters to neural networks.

PubMed

Vriend, Chris

2018-01-30

Impulse control disorders (ICD) are common neuropsychiatric disorders that can arise in Parkinson's disease (PD) patients after commencing dopamine replacement therapy. Approximately 15% of all patients develop these disorders and many more exhibit subclinical symptoms of impulsivity. ICD is thought to develop due to an interaction between the use of dopaminergic medication and an as yet unknown neurobiological vulnerability that either pre-existed before PD onset (possibly genetic) or is associated with neural alterations due to the PD pathology. This review discusses genes, neurotransmitters and neural networks that have been implicated in the pathophysiology of ICD in PD. Although dopamine and the related reward system have been the main focus of research, recently, studies have started to look beyond those systems to find new clues to the neurobiological underpinnings of ICD and come up with possible new targets for treatment. Studies on the whole-brain connectome to investigate the global alterations due to ICD development are currently lacking. In addition, there is a dire need for longitudinal studies that are able to disentangle the contributions of individual (genetic) traits and secondary effects of the PD pathology and chronic dopamine replacement therapy to the development of ICD in PD.

Determinants of Erythrocyte Hydration In Current Opinion in Hematology

PubMed Central

Rinehart, Jesse; Gulcicek, Erol E.; Joiner, Clinton H.; Lifton, Richard P.; Gallagher, Patrick G.

2012-01-01

Purpose of Review Maintenance of cellular water and solute homeostasis is critical for survival of the erythrocyte. Inherited or acquired disorders that perturb this homeostasis jeopardize the erythrocyte, leading to its premature destruction. This report reviews recent progress in our understanding the determinants of erythrocyte hydration and its related disorders. Recent Findings The molecular and genetic bases of primary disorders of erythrocyte hydration are poorly understood. Recent studies have implicated roles for the anion transporter, SLC4A1, and the Rh-associated glycoprotein, RhAG. The most common secondary disorder associated with perturbed hydration of the erythrocyte is sickle cell disease, where dehydration contributes to disease pathology and clinical complications. Advances in understanding the mechanisms regulating erythrocyte solute and water content, particularly associated with KCl cotransport and Gardos channel activation, have revealed novel signaling mechanisms controlling erythrocyte hydration. These signaling pathways may provide innovative strategies to prevent erythrocyte dehydration in sickle cell disease. Summary Clinical, translational and biologic studies all contribute to our knowledge of erythrocyte hydration. Understanding the mechanisms controlling erythrocyte water and solute homeostasis will serve as a paradigm for other cells and may reveal new therapeutic targets for disease prevention and treatment. PMID:20182354

Joint Analysis of the DRD5 Marker Concludes Association with Attention-Deficit/Hyperactivity Disorder Confined to the Predominantly Inattentive and Combined Subtypes

PubMed Central

Lowe, Naomi; Kirley, Aiveen; Hawi, Ziarih; Sham, Pak; Wickham, Harvey; Kratochvil, Christopher J.; Smith, Shelley D.; Lee, Saretta Y.; Levy, Florence; Kent, Lindsey; Middle, Fiona; Rohde, Luis A.; Roman, Tatiana; Tahir, Eda; Yazgan, Yanke; Asherson, Philip; Mill, Jonathan; Thapar, Anita; Payton, Antony; Todd, Richard D.; Stephens, Timothy; Ebstein, Richard P.; Manor, Iris; Barr, Cathy L.; Wigg, Karen G.; Sinke, Richard J.; Buitelaar, Jan K.; Smalley, Susan L.; Nelson, Stan F.; Biederman, Joseph; Faraone, Stephen V.; Gill, Michael

2004-01-01

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable, heterogeneous disorder of early onset, consisting of a triad of symptoms: inattention, hyperactivity, and impulsivity. The disorder has a significant genetic component, and theories of etiology include abnormalities in the dopaminergic system, with DRD4, DAT1, SNAP25, and DRD5 being implicated as major susceptibility genes. An initial report of association between ADHD and the common 148-bp allele of a microsatellite marker located 18.5 kb from the DRD5 gene has been followed by several studies showing nonsignificant trends toward association with the same allele. To establish the postulated association of the (CA)n repeat with ADHD, we collected genotypic information from 14 independent samples of probands and their parents, analyzed them individually and, in the absence of heterogeneity, analyzed them as a joint sample. The joint analysis showed association with the DRD5 locus (P=.00005; odds ratio 1.24; 95% confidence interval 1.12–1.38). This association appears to be confined to the predominantly inattentive and combined clinical subtypes. PMID:14732906

Neurocognitive Deficits Associated with Antisocial Personality Disorder in Non-treatment-seeking Young Adults.

PubMed

Chamberlain, Samuel R; Derbyshire, Katie L; Leppink, Eric W; Grant, Jon E

2016-06-01

Antisocial personality disorder (ASPD) is a relatively common problem, but the neuropsychological profile of affected individuals has seldom been studied outside of criminal justice recruitment settings. Non-treatment-seeking young adults (18-29 years) were recruited from the general community by media advertisements. Participants with ASPD (n = 17), free from substance use disorders, were compared with matched controls (n = 229) using objective computerized neuropsychological tasks tapping a range of cognitive domains. Compared with controls, individuals with ASPD showed significantly elevated pathological gambling symptoms, previous illegal acts, unemployment, greater nicotine consumption, and relative impairments in response inhibition (Stop-Signal Task) and decision-making (less risk adjustment, Cambridge Gamble Task). General response speed, set-shifting, working memory, and executive planning were intact. ASPD was also associated with higher impulsivity and venturesomeness on the Eysenck Questionnaire. These findings implicate impaired inhibitory control and decision-making in the pathophysiology of ASPD, even in milder manifestations of the disorder. Future work should explore the neural correlates of these impairments and use longitudinal designs to examine the temporal relationship between these deficits, antisocial behavior, and functional impairment. © 2016 American Academy of Psychiatry and the Law.

Conduct Disorder and Comorbidity.

ERIC Educational Resources Information Center

Stahl, Nicole D.; Clarizio, Harvey F.

1999-01-01

Provides critical examination of research published during past ten years addressing Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder, Oppositional Defiant Disorder (ODD), and internalizing disorders. Concludes comorbidity varies with age, gender, informant, diagnostic criteria, and nature of the sample. Implications of comorbidity…

A cross-cultural exploration of the everyday social participation of individuals with autism spectrum disorders in Australia and Taiwan: An experience sampling study.

PubMed

Chen, Yu-Wei; Bundy, Anita C; Cordier, Reinie; Chien, Yi-Ling; Einfeld, Stewart L

2017-02-01

Individuals with an autism spectrum disorder commonly have limited social participation. This study aimed to examine the similarities and differences of everyday participation among males and females with autism spectrum disorder in Australia and Taiwan, using an experience sampling methodology. A total of 14 Australians (4 males, aged 16-43 years) and 16 Taiwanese (12 males, aged 19-45 years) with autism spectrum disorder who are cognitively able were asked to carry a device which prompted them seven times per day for 7 days, to record everyday participation: where they were, what they were doing, and who they were with. Multilevel analyses were used to identify the relationships between everyday participation and associated factors including gender, country of residence, clinical severity of autism spectrum disorder, and social anxiety. The results showed that Taiwanese participants were more likely to stay at home than Australian participants. However, female participants were more likely to engage in social situations than males. Furthermore, participants with fewer autism spectrum disorder symptoms and those with higher levels of social anxiety were less likely to engage in social interactions. This study sheds light on ways that culture and gender affect social participation and highlights the relationship of social anxiety to social participation. The findings have implications for interventions for social participation.

Sleep and inflammatory markers in different psychiatric disorders.

PubMed

Krysta, Krzysztof; Krzystanek, Marek; Bratek, Agnieszka; Krupka-Matuszczyk, Irena

2017-02-01

Many psychiatric disorders, like schizophrenia, affective disorders, addictions and different forms of dementia are associated with sleep disturbances. In the etiology and course of those diseases inflammatory processes are regarded to be an increasingly important factor. They are also a frequently discussed element of the pathology of sleep. In this literature review reports on correlations between poor sleep and inflammatory responses in various psychiatric conditions are discussed. The link between schizophrenia, affective disorders and inflammatory cytokines is a complex phenomenon, which has been already confirmed in a number of studies. However, the presence of sleep deficits in those conditions, being a common symptom of depression and psychoses, can be an additional factor having a considerable impact on the immunological processes in mental illnesses. In the analyzed data, a number of studies are presented describing the role of inflammatory markers in sleep disturbances and psychopathological symptoms of affective, psychotic, neurogenerative and other disorders. Also attention is drawn to possible implications for their treatment. Efforts to use, e.g., anti-inflammatory agents in psychiatry in the context of their impact on sleep are reported. The aspect of inflammatory markers in the role of sleep deprivation as the treatment method in major depressive disorder is also discussed. A general conclusion is drawn that the improvement of sleep quality plays a crucial role in the care for psychiatric patients.

Annual Research Review: The nature and classification of reading disorders – a commentary on proposals for DSM-5

PubMed Central

Snowling, Margaret J; Hulme, Charles

2012-01-01

This article reviews our understanding of reading disorders in children and relates it to current proposals for their classification in DSM-5. There are two different, commonly occurring, forms of reading disorder in children which arise from different underlying language difficulties. Dyslexia (as defined in DSM-5), or decoding difficulty, refers to children who have difficulty in mastering the relationships between the spelling patterns of words and their pronunciations. These children typically read aloud inaccurately and slowly, and experience additional problems with spelling. Dyslexia appears to arise principally from a weakness in phonological (speech sound) skills, and there is good evidence that it can be ameliorated by systematic phonic teaching combined with phonological awareness training. The other major form of reading difficulty is reading comprehension impairment. These children read aloud accurately and fluently, but have difficulty understanding what they have read. Reading comprehension impairment appears to arise from weaknesses in a range of oral language skills including poor vocabulary knowledge, weak grammatical skills and difficulties in oral language comprehension. We suggest that the omission of reading comprehension impairment from DSM-5 is a serious one that should be remedied. Both dyslexia and reading comprehension impairment are dimensional in nature, and show strong continuities with other disorders of language. We argue that recognizing the continuities between reading and language disorders has important implications for assessment and treatment, and we note that the high rates of comorbidity between reading disorders and other seemingly disparate disorders (including ADHD and motor disorders) raises important challenges for understanding these disorders. PMID:22141434

Osteocytes and Mechano-Transduction (Osteo-4)

NASA Image and Video Library

2015-04-19

ISS043E122574 (04/19/2015) --- ESA (European Space Station) astronaut Samantha Cristoforetti, a flight engineer on the International Space Station, is seen here unpacking the recently arrived Osteo-4 experiment which was carried up on Spacex’s sixth Dragon resupply mission. Osteo-4 is performing research on how microgravity effects changes in the most common cell found in human bones to protect the health of future astronauts. This research could also have implications for patients on Earth in the treatment of bone disorders related to disuse or immobilization, as well as metabolic diseases such as osteoporosis.

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome.

PubMed

Dölen, Gül; Bear, Mark F

2008-03-15

Metabotropic glutamate receptors (mGluRs) have been implicated in a diverse variety of neuronal functions. Studies reviewed here indicate that exaggerated signalling through mGluR5 can account for multiple cognitive and syndromic features of fragile X syndrome, the most common inherited form of mental retardation and autism. Since a reduction of mGluR5 signalling can reverse fragile X phenotypes, these studies provide a compelling rationale for the use of mGluR5 antagonists for the treatment of fragile X and related disorders.

Instructional influences on analogue functional analysis outcomes.

PubMed Central

Northup, John; Kodak, Tiffany; Grow, Laura; Lee, Jennifer; Coyne, Amanda

2004-01-01

Analogue assessments were conducted with a common contingency (escape from tasks) that varied only by three different instructions describing the contingency. In one condition, the contingency was described as "taking a break," in another condition it was described as "time-out," and no description of the contingency was provided in a third condition. The participant was a typically developing 5-year-old child with a diagnosis of attention deficit hyperactivity disorder. Rates of inappropriate behavior varied substantially across the three conditions as an apparent effect of the prior instructions. Some implications for conducting functional analyses with verbal children are discussed. PMID:15669409

Common Mental Disorders among Occupational Groups: Contributions of the Latent Class Model

PubMed Central

Martins Carvalho, Fernando; de Araújo, Tânia Maria

2016-01-01

Background. The Self-Reporting Questionnaire (SRQ-20) is widely used for evaluating common mental disorders. However, few studies have evaluated the SRQ-20 measurements performance in occupational groups. This study aimed to describe manifestation patterns of common mental disorders symptoms among workers populations, by using latent class analysis. Methods. Data derived from 9,959 Brazilian workers, obtained from four cross-sectional studies that used similar methodology, among groups of informal workers, teachers, healthcare workers, and urban workers. Common mental disorders were measured by using SRQ-20. Latent class analysis was performed on each database separately. Results. Three classes of symptoms were confirmed in the occupational categories investigated. In all studies, class I met better criteria for suspicion of common mental disorders. Class II discriminated workers with intermediate probability of answers to the items belonging to anxiety, sadness, and energy decrease that configure common mental disorders. Class III was composed of subgroups of workers with low probability to respond positively to questions for screening common mental disorders. Conclusions. Three patterns of symptoms of common mental disorders were identified in the occupational groups investigated, ranging from distinctive features to low probabilities of occurrence. The SRQ-20 measurements showed stability in capturing nonpsychotic symptoms. PMID:27630999

Strategies to keep working among workers with common mental disorders - a grounded theory study.

PubMed

Danielsson, Louise; Elf, Mikael; Hensing, Gunnel

2017-11-28

Most people with common mental disorders (CMDs) are employed and working, but few studies have looked into how they manage their jobs while ill. This study explores workers' experiences of strategies to keep working while suffering from CMDs. In this grounded theory study, we interviewed 19 women and eight men with depression or anxiety disorders. They were 19-65 years old and had different occupations. Constant comparison method was used in the analysis. We identified a core pattern in the depressed and anxious workers' attempts to sustain their capacities, defined as Managing work space. The core pattern comprised four categories describing different cognitive, behavioral, and social strategies. The categories relate to a process of sustainability. Two categories reflected more reactive and temporary strategies, occurring mainly in the onset phase of illness: Forcing the work role and Warding off work strain. The third category, Recuperating from work, reflected strategies during both onset and recovery phases. The fourth category, Reflexive adaptation, was present mainly in the recovery phase and involved reflective strategies interpreted as more sustainable over time. The results can deepen understanding among rehabilitation professionals about different work-related strategies in depressed and anxious workers. Increased awareness of the meaning and characteristics of strategies can inform a person-oriented approach in rehabilitation. The knowledge can be used in clinical encounters to reflect together with the patient, exploring present options and introducing modifications to their particular work and life context. Implications for rehabilitation Self-managed work functioning in common mental disorders involves diverse strategies. Strategies interpreted as sustainable over time, seem to be reflective in the sense that the worker consciously applies and adapts the strategies. However, at the onset of illness, such reflection is difficult to develop as the worker might not want to realize their reduced functioning. Rehabilitation professionals' awareness of different strategies can facilitate a person-centered approach and understanding of the vocational rehabilitation process.

Coping with Musculoskeletal Pain: Implications for Office Workers

ERIC Educational Resources Information Center

Oztug, Ozhan; Cowie, Helen

2011-01-01

The aim of the present research was to understand how office workers cope with back, neck and upper limb musculoskeletal disorders at work (and their implications for work). A small (N = 120) questionnaire survey collected information about potential participants' background and history of musculoskeletal disorders. These data were used to inform…

Ventral Striatum Functional Connectivity as a Predictor of Adolescent Depressive Disorder in a Longitudinal Community-Based Sample.

PubMed

Pan, Pedro Mario; Sato, João R; Salum, Giovanni A; Rohde, Luis A; Gadelha, Ary; Zugman, Andre; Mari, Jair; Jackowski, Andrea; Picon, Felipe; Miguel, Eurípedes C; Pine, Daniel S; Leibenluft, Ellen; Bressan, Rodrigo A; Stringaris, Argyris

2017-11-01

Previous studies have implicated aberrant reward processing in the pathogenesis of adolescent depression. However, no study has used functional connectivity within a distributed reward network, assessed using resting-state functional MRI (fMRI), to predict the onset of depression in adolescents. This study used reward network-based functional connectivity at baseline to predict depressive disorder at follow-up in a community sample of adolescents. A total of 637 children 6-12 years old underwent resting-state fMRI. Discovery and replication analyses tested intrinsic functional connectivity (iFC) among nodes of a putative reward network. Logistic regression tested whether striatal node strength, a measure of reward-related iFC, predicted onset of a depressive disorder at 3-year follow-up. Further analyses investigated the specificity of this prediction. Increased left ventral striatum node strength predicted increased risk for future depressive disorder (odds ratio=1.54, 95% CI=1.09-2.18), even after excluding participants who had depressive disorders at baseline (odds ratio=1.52, 95% CI=1.05-2.20). Among 11 reward-network nodes, only the left ventral striatum significantly predicted depression. Striatal node strength did not predict other common adolescent psychopathology, such as anxiety, attention deficit hyperactivity disorder, and substance use. Aberrant ventral striatum functional connectivity specifically predicts future risk for depressive disorder. This finding further emphasizes the need to understand how brain reward networks contribute to youth depression.

A New Perspective on the Pathophysiology of Borderline Personality Disorder: A Model of the Role of Oxytocin.

PubMed

Herpertz, Sabine C; Bertsch, Katja

2015-09-01

Borderline personality disorder is characterized by three domains of dysfunction: affect dysregulation, behavioral dyscontrol, and interpersonal hypersensitivity. Interpersonal hypersensitivity is associated with a (pre)attentive bias toward negative social information and, on the level of the brain, enhanced bottom-up emotion generation, while affect dysregulation results from abnormal top-down processes. Additionally, the problems of patients with borderline personality disorder in interpersonal functioning appear to be related to alterations in the (social) reward and empathy networks. There is increasing evidence that the oxytocinergic system may be involved in these domains of dysfunction and may thus contribute to borderline psychopathology and even open new avenues for targeted pharmacotherapeutic approaches. From studies in healthy and clinical subjects (including first studies with borderline personality disorder patients), the authors provide a conceptual framework for future research in borderline personality disorder that is based on oxytocinergic modulation of the following biobehavioral mechanisms: 1) the brain salience network favoring adaptive social approach behavior, 2) the affect regulation circuit normalizing top-down processes, 3) the mesolimbic circuit improving social reward experiences, and 4) modulating brain regions involved in cognitive and emotional empathy. In addition, preliminary data point to interactions between the oxytocin and cannabinoid system, with implications for pain processing. These mechanisms, which the authors believe to be modulated by oxytocin, may not be specific for borderline personality disorder but rather may be common to a host of psychiatric disorders in which disturbed parent-infant attachment is a major etiological factor.

Do chronic medical conditions increase the risk of eating disorder? A cross-sectional investigation of eating pathology in adolescent females with scoliosis and diabetes.

PubMed

Smith, Fiona M; Latchford, Gary J; Hall, Richard M; Dickson, Robert A

2008-01-01

To investigate levels of eating pathology in female adolescents diagnosed with a chronic condition causing appearance change (adolescent-onset idiopathic scoliosis), a chronic condition affecting nutritional behavior (insulin-dependent diabetes mellitus), and healthy age-matched controls. Cross-sectional comparison of 192 females aged 11-19 years; 76 individuals diagnosed with scoliosis, 40 diagnosed with diabetes, and 76 control participants. Disordered eating behavior was quantified using the Eating Disorder Examination Questionnaire, and weight and body mass index (weight [kg]/height [m(2)]) measurements were taken for each participant. The scoliosis group weighed less and had lower BMI scores (p < .001) than control participants. Of the participants with scoliosis, 25% were severely underweight, but only two met the behavioral criteria for anorexia nervosa; in others no association with disordered eating behaviour was found. Eating disorders were significantly more common (p < .05) in the diabetes participants than in the control group, with 27.5% of the group classified as having bulimia or binge eating disorder. All those classified as overweight or obese in the diabetes group were classified as pathological in terms of eating behavior. The relationship between scoliosis and low body mass is a concern but is not a result of an eating disorder. Etiological mechanisms remain unclear and require further investigation. In the diabetes participants, bulimia and binge eating may prejudice effective condition management. Implications for successful adaptation, treatment intervention, and future research are discussed.

[Migraine and evolutionary theory: paths for a clinical approach].

PubMed

Alvaro-Gonzalez, L C

2016-10-01

Migraine is a very common disorder with a raising incidence. The theory of evolution allow us to explain the emergence of the disorder, due to the advantages that the overreactivity to stimulus provided to ancestral groups of Homo sapiens, and a greater presence of the disorder in modern societies, based in the interactions with external factors. Herein we analyze these points. Design of organisms and their responses to environmental factors emerge to improve survival. Thus pain and headache can be contemplated as homeostatic and adaptative responses. Below 10% of the population has no experience with headache and the migrainous phenotype is quite frequent in secondary headaches and in syndromic forms of migraine. These features can be understood under the next undergrounds: specific neurophysiological data (lack of habituation, sensibilization and low preactivation), genetic features (polygenic disorder with the implication of many gens with a low penetrance, that interact with the environment and are shared with comorbid disorders such as depression and anxiety); and environmental interactions in modern societies (increase in the number of estrogenic cycles and particularly overexposition to stress). A feature that was an evolutionary advantage has been transformed in a highly prevalent and disabling disorder in modern societies. It is the result of the interaction with internal (estrogenic cycles) and external (stress) stimuli. As a consequence, it becomes a mismatch disorder. The effects appear in childhood through epigenetics. Therefore, therapeutic interventions would yield greater benefits if whole populations were included in educative interventions incorporating these aspects.

The relationship between bipolar disorder and cannabis use in daily life: an experience sampling study.

PubMed

Tyler, Elizabeth; Jones, Steven; Black, Nancy; Carter, Lesley-Anne; Barrowclough, Christine

2015-01-01

Although cannabis use is common in bipolar disorder and may contribute to worse clinical outcomes, little is understood about the relationship between this drug and bipolar disorder over the course of daily life. The aim of study was to examine the effect of cannabis on affect and bipolar symptoms in a group of individuals with bipolar disorder. Twenty-four participants with bipolar disorder type I or type II completed diaries for 6 days using Experience Sampling Methodology to investigate the temporal associations between cannabis, affect and bipolar disorder symptoms. The results indicated that higher levels of positive affect increase the odds of using cannabis (OR:1.25 ,CI:1.06-1.47, P=0.008). However, neither negative affect, manic nor depressive symptoms predicted the use of cannabis. Cannabis use was associated with subsequent increases in positive affect (β=0.35, CI:0.20-0.51, P=0.000), manic symptoms (β=0.20,CI:0.05-0.34, P=0.009) and depressive symptoms (β= 0.17,CI:0.04-0.29, P=0.008). The findings indicate that cannabis use is associated with a number of subsequent psychological effects. However there was no evidence that individuals with BD were using cannabis to self-medicate minor fluctuations in negative affect or bipolar disorder symptoms over the course of daily life. The findings in relation to existing literature and clinical implications are discussed.

Neural Biomarkers for Dyslexia, ADHD, and ADD in the Auditory Cortex of Children.

PubMed

Serrallach, Bettina; Groß, Christine; Bernhofs, Valdis; Engelmann, Dorte; Benner, Jan; Gündert, Nadine; Blatow, Maria; Wengenroth, Martina; Seitz, Angelika; Brunner, Monika; Seither, Stefan; Parncutt, Richard; Schneider, Peter; Seither-Preisler, Annemarie

2016-01-01

Dyslexia, attention deficit hyperactivity disorder (ADHD), and attention deficit disorder (ADD) show distinct clinical profiles that may include auditory and language-related impairments. Currently, an objective brain-based diagnosis of these developmental disorders is still unavailable. We investigated the neuro-auditory systems of dyslexic, ADHD, ADD, and age-matched control children (N = 147) using neuroimaging, magnetencephalography and psychoacoustics. All disorder subgroups exhibited an oversized left planum temporale and an abnormal interhemispheric asynchrony (10-40 ms) of the primary auditory evoked P1-response. Considering right auditory cortex morphology, bilateral P1 source waveform shapes, and auditory performance, the three disorder subgroups could be reliably differentiated with outstanding accuracies of 89-98%. We therefore for the first time provide differential biomarkers for a brain-based diagnosis of dyslexia, ADHD, and ADD. The method allowed not only allowed for clear discrimination between two subtypes of attentional disorders (ADHD and ADD), a topic controversially discussed for decades in the scientific community, but also revealed the potential for objectively identifying comorbid cases. Noteworthy, in children playing a musical instrument, after three and a half years of training the observed interhemispheric asynchronies were reduced by about 2/3, thus suggesting a strong beneficial influence of music experience on brain development. These findings might have far-reaching implications for both research and practice and enable a profound understanding of the brain-related etiology, diagnosis, and musically based therapy of common auditory-related developmental disorders and learning disabilities.

Neural Biomarkers for Dyslexia, ADHD, and ADD in the Auditory Cortex of Children

PubMed Central

Serrallach, Bettina; Groß, Christine; Bernhofs, Valdis; Engelmann, Dorte; Benner, Jan; Gündert, Nadine; Blatow, Maria; Wengenroth, Martina; Seitz, Angelika; Brunner, Monika; Seither, Stefan; Parncutt, Richard; Schneider, Peter; Seither-Preisler, Annemarie

2016-01-01

Dyslexia, attention deficit hyperactivity disorder (ADHD), and attention deficit disorder (ADD) show distinct clinical profiles that may include auditory and language-related impairments. Currently, an objective brain-based diagnosis of these developmental disorders is still unavailable. We investigated the neuro-auditory systems of dyslexic, ADHD, ADD, and age-matched control children (N = 147) using neuroimaging, magnetencephalography and psychoacoustics. All disorder subgroups exhibited an oversized left planum temporale and an abnormal interhemispheric asynchrony (10–40 ms) of the primary auditory evoked P1-response. Considering right auditory cortex morphology, bilateral P1 source waveform shapes, and auditory performance, the three disorder subgroups could be reliably differentiated with outstanding accuracies of 89–98%. We therefore for the first time provide differential biomarkers for a brain-based diagnosis of dyslexia, ADHD, and ADD. The method allowed not only allowed for clear discrimination between two subtypes of attentional disorders (ADHD and ADD), a topic controversially discussed for decades in the scientific community, but also revealed the potential for objectively identifying comorbid cases. Noteworthy, in children playing a musical instrument, after three and a half years of training the observed interhemispheric asynchronies were reduced by about 2/3, thus suggesting a strong beneficial influence of music experience on brain development. These findings might have far-reaching implications for both research and practice and enable a profound understanding of the brain-related etiology, diagnosis, and musically based therapy of common auditory-related developmental disorders and learning disabilities. PMID:27471442

Anxiety Disorders: Recognizing the Symptoms of Six of the Most Common Anxiety Disorders

ERIC Educational Resources Information Center

Cancro, Robert

2007-01-01

This article describes six common types of anxiety disorders: (1) generalized anxiety disorder; (2) panic disorder; (3) obsessive-compulsive disorder; (4) post-traumatic stress disorder; (5) specific phobias; and (6) social phobia. Treatment of anxiety disorders have two components that can be offered separately or in combination. They are…

The enigma of nonarteritic anterior ischemic optic neuropathy: an update for the comprehensive ophthalmologist.

PubMed

Gaier, Eric D; Torun, Nurhan

2016-11-01

Nonarteritic anterior ischemic optic neuropathy (NAION) is the most common cause of acute optic nerve injury, and frequently presents to comprehensive ophthalmologists. We review the typical and atypical clinical features and current literature on various treatment modalities for NAION. The epidemiology and clinical presentation of this disease can be variable, making a definitive diagnosis difficult in many cases. In addition, the differential diagnoses for this disorder, although comprising much less prevalent entities, are quite broad and can have substantial systemic implications if these alternatives go unrecognized. NAION has many systemic associations and comorbidities that deserve inquiry when the diagnosis is made. There are currently no widely accepted, evidence-based treatments for NAION. All recommendations made to patients to reduce their risk of sequential eye involvement, including avoidance of potential nocturnal hypotension, erectile dysfunction medication, and treatment of obstructive sleep apnea, have theoretical bases. NAION is a common cause of acute vision loss in adult and older patients, and thus, comprehensive ophthalmologists need to be able to diagnose and appropriately manage this disorder. We anticipate fruitful results from current and future trials aimed at neuroprotection in the affected eye and prevention of sequential eye involvement.

Sleep disordered breathing in pregnancy: the maternal and fetal implications.

PubMed

Carnelio, Shanthi; Morton, Adam; McIntyre, H David

2017-02-01

Sleep disordered breathing (SDB) which includes obstructive sleep apnoea (OSA) and upper airway resistance syndrome (UARS), has emerged as a risk factor for adverse maternal-foetal outcomes in pregnancy. Physiological changes of pregnancy predispose a woman 'at risk' towards developing SDB. The increasing incidence of OSA in pregnancy closely correlates with the population trends of obesity. Common screening tools validated in non-pregnant subjects including Epworth Sleepiness Scale (ESS) and Berlin Questionnaire (BQ) are poor predictors of SDB in pregnancy. Preeclampsia, gestational hypertension and gestational diabetes mellitus (GDM) are linked with SDB. Preeclampsia and OSA share common pathological associations. It is unclear if one predisposes the other. Foetal morbidity includes intrauterine growth restriction (IUGR), preterm delivery, low birth weight, neonatal intensive care unit (NICU) admission and Apgar score of less than seven at one minute. Continuous positive airway pressure (CPAP) is a well-documented treatment of SDB in pregnancy and has been shown to reverse some of the adverse events. It becomes imperative to diagnose and manage this condition as OSA causes substantial morbidity in the untreated pregnant patient and foetus. Three short clinical cases and a literature review on SDB on pregnancy are presented.

Depression and dementias among military veterans.

PubMed

Byers, Amy L; Yaffe, Kristine

2014-06-01

Depression is very common throughout the course of veterans' lives, and dementia is common in late life. Previous studies suggest an association between depression and dementia in military veterans. The most likely biologic mechanisms that may link depression and dementia among military veterans include vascular disease, changes in glucocorticoid steroids and hippocampal atrophy, deposition of β-amyloid plaques, inflammatory changes, and alterations of nerve growth factors. In addition, military veterans often have depression comorbid with posttraumatic stress disorder or traumatic brain injury. Therefore, in military veterans, these hypothesized biologic pathways going from depression to dementia are more than likely influenced by trauma-related processes. Treatment strategies for depression, posttraumatic stress disorder, or traumatic brain injury could alter these pathways and as a result decrease the risk for dementia. Given the projected increase of dementia, as well as the projected increase in the older segment of the veteran population, in the future, it is critically important that we understand whether treatment for depression alone or combined with other regimens improves cognition. In this review, we summarize the principal mechanisms of this relationship and discuss treatment implications in military veterans. Copyright © 2014 The Alzheimer's Association. All rights reserved.

Perturbational Profiling of Metabolites in Patient Fibroblasts Implicates α-Aminoadipate as a Potential Biomarker for Bipolar Disorder

PubMed Central

Huang, Joanne H.; Berkovitch, Shaunna S.; Iaconelli, Jonathan; Watmuff, Bradley; Park, Hyoungjun; Chattopadhyay, Shrikanta; McPhie, Donna; Öngür, Dost; Cohen, Bruce M.; Clish, Clary B.; Karmacharya, Rakesh

2016-01-01

Many studies suggest the presence of aberrations in cellular metabolism in bipolar disorder. We studied the metabolome in bipolar disorder to gain insight into cellular pathways that may be dysregulated in bipolar disorder and to discover evidence of novel biomarkers. We measured polar and nonpolar metabolites in fibroblasts from subjects with bipolar I disorder and matched healthy control subjects, under normal conditions and with two physiologic perturbations: low-glucose media and exposure to the stress-mediating hormone dexamethasone. Metabolites that were significantly different between bipolar and control subjects showed distinct separation by principal components analysis methods. The most statistically significant findings were observed in the perturbation experiments. The metabolite with the lowest p value in both the low-glucose and dexamethasone experiments was α-aminoadipate, whose intracellular level was consistently lower in bipolar subjects. Our study implicates α-aminoadipate as a possible biomarker in bipolar disorder that manifests under cellular stress. This is an intriguing finding given the known role of α-aminoadipate in the modulation of kynurenic acid in the brain, especially as abnormal kynurenic acid levels have been implicated in bipolar disorder. PMID:27606323

[Clinical Implications of Changes in Child Psychiatry in the DSM-5. Strengths and Weaknesses of the Changes].

PubMed

Botero-Franco, Diana; Palacio-Ortíz, Juan David; Arroyave-Sierra, Pilar; Piñeros-Ortíz, Sandra

2016-01-01

The Diagnostic and Statistical Manual of Mental Disorders (DSM) and the International Statistical Classification of Diseases and related health problems (ICD) integrate the diagnostic criteria commonly used in psychiatric practice, but the DSM-IV-TR was insufficient for current clinical work. The DSM-5 was first made public in May at the Congress of the American Psychiatric Association, and it includes changes to some aspects of Child Psychiatry, as many of the conditions that were at the beginning in chapter of infancy, childhood and adolescence disorders have been transferred to other chapters and there are new diagnostic criteria or new terms are added. It is therefore important to provide it to Psychiatrists who attend children in order to assess the changes they will be facing in the nomenclature and classification in pursuit of a better classification of the childhood psychopathology. Copyright © 2016. Publicado por Elsevier España.

Psychological aspects of obesity.

PubMed

Fabricatore, Anthony N; Wadden, Thomas A

2004-01-01

Obesity is a complex condition associated with a host of medical disorders. A common assumption is that obesity must also be related to psychological and emotional complications. Research on the psychosocial aspects of obesity has grown more sophisticated over the years, from purely theoretical papers to cross-sectional comparisons of people with and without obesity to prospective investigations of the temporal sequence of obesity and mood disturbance. These studies have shown that obesity, by itself, does not appear to be systematically associated with psychopathological outcomes. Certain obese individuals, however, are at greater risk of psychiatric disorder, especially depression. The present paper reviews the research findings and presents their clinical implications. Chiefly, treatment providers should not assume that a depressed or otherwise disturbed obese person needs only to lose weight in order to return to psychological health. Significant mood disturbances should be treated equally aggressively, regardless of a patient's weight status.

Conceptualizing and Treating Social Anxiety in Autism Spectrum Disorder: A Focus Group Study with Multidisciplinary Professionals.

PubMed

Spain, Debbie; Rumball, Freya; O'Neill, Lucy; Sin, Jacqueline; Prunty, Jonathan; Happé, Francesca

2017-12-01

Individuals who have autism spectrum disorders (ASD) commonly experience social anxiety (SA). Disentangling SA symptoms from core ASD characteristics is complex, partly due to diagnostic overshadowing and co-occurring alexithymia. Causal and maintaining mechanisms for SA in ASD are underexplored, but it is feasible that there is an ASD specificity to the clinical presentation, with implications for the development of targeted treatments. Five focus groups were conducted with multidisciplinary professionals to investigate their perspectives about, and approaches to, working with individuals with ASD and SA. Data were analysed thematically. Data analysis revealed two overarching themes: conceptualizing SA in ASD and service provision. Our results suggest that adaptations to service provision are pertinent, so as to accommodate inherent impairments that can mediate assessment and intervention. Future studies should establish how aspects of the care pathway can be improved for individuals with ASD and SA. © 2016 John Wiley & Sons Ltd.

Dissecting the links between cerebellum and dystonia.

PubMed

Malone, Ailish; Manto, Mario; Hass, Chris

2014-12-01

Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

Ciliary dysfunction and obesity.

PubMed

Mok, C A; Héon, E; Zhen, M

2010-01-01

Obesity associates with increased health risks such as heart disease, stroke and diabetes. The steady rise in the obese population worldwide poses an increasing burden on health systems. Genetic factors contribute to the development of obesity, and the elucidation of their physiological functions helps to understand the cause, and improve the prevention, diagnosis and treatment for this disorder. Primary cilia are evolutionarily conserved organelles whose dysfunctions lead to human disorders now defined as ciliopathies. Human ciliopathies present pleiotropic and overlapping phenotypes that often include retinal degeneration, cystic renal anomalies and obesity. Increasing evidence implicates an intriguing involvement of cilia in lipid/energy homeostasis. Here we discuss recent studies in support of the key roles of ciliary genes in the development and pathology of obesity in various animal models. Genes affecting ciliary development and function may pose promising candidate underlying genetic factors that contribute to the development of common obesity.

Adult attachment style and childhood interpersonal trauma in non-epileptic attack disorder.

PubMed

Holman, Natalie; Kirkby, Antonia; Duncan, Susan; Brown, Richard J

2008-03-01

Non-epileptic attack disorder (NEAD) poses a significant clinical problem but is poorly understood. Attachment theory provides a framework for understanding the development and maintenance of NEAD and the contribution of childhood abuse and neglect to these processes. A cross-sectional design was used to study attachment style and early traumatic experiences in individuals with NEAD (N=17) compared to those with epilepsy (N=26). A significant difference in predominant attachment style between the two groups was found, with fearful attachment occurring more frequently in the NEAD group. Abuse and neglect were also significantly more common in the NEAD patients. Both early traumatic experiences and fearful attachment added significantly to the predictive power of a logistic regression equation after controlling for anxiety and dysthymia. The findings suggest a link between disturbed attachment and NEAD and have clinical implications for therapeutic intervention with this group.

Pi-Pi contacts are an overlooked protein feature relevant to phase separation.

PubMed

Vernon, Robert McCoy; Chong, Paul Andrew; Tsang, Brian; Kim, Tae Hun; Bah, Alaji; Farber, Patrick; Lin, Hong; Forman-Kay, Julie Deborah

2018-02-09

Protein phase separation is implicated in formation of membraneless organelles, signaling puncta and the nuclear pore. Multivalent interactions of modular binding domains and their target motifs can drive phase separation. However, forces promoting the more common phase separation of intrinsically disordered regions are less understood, with suggested roles for multivalent cation-pi, pi-pi, and charge interactions and the hydrophobic effect. Known phase-separating proteins are enriched in pi-orbital containing residues and thus we analyzed pi-interactions in folded proteins. We found that pi-pi interactions involving non-aromatic groups are widespread, underestimated by force-fields used in structure calculations and correlated with solvation and lack of regular secondary structure, properties associated with disordered regions. We present a phase separation predictive algorithm based on pi interaction frequency, highlighting proteins involved in biomaterials and RNA processing. © 2018, Vernon et al.

Psychiatric Symptoms in Teachers from Danwon High School after Exposure to the Sinking of the Motor Vessel Sewol

PubMed Central

Lee, Mi-Sun; Bhang, Soo-Young; Lee, Cheol-Soon; Chang, Hyoung Yoon; Kim, Ji-Youn; Lee, Ju-Hyun; Kim, Eunji; Bae, Seung-Min; Park, Jang-Ho; Kim, Hye-Jin

2017-01-01

Objective The goal of this study was to describe the psychiatric symptoms in the teachers from Danwon High School who were exposed to the sinking of the Motor Vessel Sewol. Methods Data were collected from 32 teachers who underwent psychiatric interventions by 16 volunteer psychiatrists for 3 months after the sinking of the Motor Vessel Sewol. Results The most commonly diagnosed clinical diagnosis in the teachers were normal reaction, acute stress disorder and adjustment disorder. Psychiatric symptoms including anxiety, depressed mood and sleep disturbances were also observed. Conclusion In the acute aftermath of the Sewol Ferry sinking on April 16, 2014, psychiatrists volunteered to provide professional psychiatric interventions to Danwon High School teachers. These results suggest the importance of crisis intervention focused on the teachers who are exposed to disasters. The implications for future research and interventions are discussed. PMID:29209399

Psychiatric Symptoms in Teachers from Danwon High School after Exposure to the Sinking of the Motor Vessel Sewol.

PubMed

Lee, Mi-Sun; Bhang, Soo-Young; Lee, Cheol-Soon; Chang, Hyoung Yoon; Kim, Ji-Youn; Lee, Ju-Hyun; Kim, Eunji; Bae, Seung-Min; Park, Jang-Ho; Kim, Hye-Jin; Hwang, Jun-Won

2017-11-01

The goal of this study was to describe the psychiatric symptoms in the teachers from Danwon High School who were exposed to the sinking of the Motor Vessel Sewol. Data were collected from 32 teachers who underwent psychiatric interventions by 16 volunteer psychiatrists for 3 months after the sinking of the Motor Vessel Sewol. The most commonly diagnosed clinical diagnosis in the teachers were normal reaction, acute stress disorder and adjustment disorder. Psychiatric symptoms including anxiety, depressed mood and sleep disturbances were also observed. In the acute aftermath of the Sewol Ferry sinking on April 16, 2014, psychiatrists volunteered to provide professional psychiatric interventions to Danwon High School teachers. These results suggest the importance of crisis intervention focused on the teachers who are exposed to disasters. The implications for future research and interventions are discussed.

Behavioral addictions: a novel challenge for psychopharmacology.

PubMed

Marazziti, Donatella; Presta, Silvio; Baroni, Stefano; Silvestri, Stefano; Dell'Osso, Liliana

2014-12-01

Although addictive syndromes have been traditionally related to substance-use disorders, during the last few decades a novel addictive group, including the so-called "behavioral or no-drug addictions," has been recognized and has attracted increasing attention for its relevant social impact. This group includes pathological gambling, compulsive shopping, TV/Internet/social network/videogame addictions, workaholism, sex and relationship addictions, orthorexia, and overtraining syndrome. Substance and behavioral addictions show similar phenomenological features, such as craving, dependence, tolerance, and abstinence, and perhaps they share a common possible pathophysiology. It is, however, controversial whether all or at least some of them should be considered real disorders or just normal, albeit extreme, behaviors. The aim of this article is to review current data on pharmacological treatment of behavioral addictions. As no specific and validated treatment algorithms are currently available, only an improved knowledge on their psychopathological, clinical, and neurobiological features may have relevant implications for more focused preventive and therapeutic strategies.

Physiological correlates of psychopathy, antisocial personality disorder, habitual aggression, and violence.

PubMed

Patrick, Christopher J

2014-01-01

This chapter reviews the existing literature on physiological correlates of psychopathy, antisocial personality disorder, and persistent violence/aggression. Coverage is provided of findings from studies utilizing peripheral, electrocortical, and neuroimaging measures. The review begins with a discussion of how psychopathy and antisocial personality are defined, and how these conditions relate to one another and to violent behavior. A case is made that the relationships psychopathy and ASPD show with violent and aggressive behavior, and similarities and differences in associations of each with physiological measures of various types can be understood in terms of symptomatic features these conditions have in common versus features that distinguish them. Following this, an overview is provided of major lines of evidence emerging from psychophysiological and neuroimaging studies conducted to date on these conditions. The final section of the chapter summarizes what has been learned from these existing studies and discusses implications and directions for future research.

Thrombocytosis: Diagnostic Evaluation, Thrombotic Risk Stratification, and Risk-Based Management Strategies

PubMed Central

Bleeker, Jonathan S.; Hogan, William J.

2011-01-01

Thrombocytosis is a commonly encountered clinical scenario, with a large proportion of cases discovered incidentally. The differential diagnosis for thrombocytosis is broad and the diagnostic process can be challenging. Thrombocytosis can be spurious, attributed to a reactive process or due to clonal disorder. This distinction is important as it carries implications for evaluation, prognosis, and treatment. Clonal thrombocytosis associated with the myeloproliferative neoplasms, especially essential thrombocythemia and polycythemia vera, carries a unique prognostic profile, with a markedly increased risk of thrombosis. This risk is the driving factor behind treatment strategies in these disorders. Clinical trials utilizing targeted therapies in thrombocytosis are ongoing with new therapeutic targets waiting to be explored. This paper will outline the mechanisms underlying thrombocytosis, the diagnostic evaluation of thrombocytosis, complications of thrombocytosis with a special focus on thrombotic risk as well as treatment options for clonal processes leading to thrombocytosis, including essential thrombocythemia and polycythemia vera. PMID:22084665

Sensory and Repetitive Behaviors among Children with Autism Spectrum Disorder at Home

PubMed Central

Kirby, Anne V.; Boyd, Brian A.; Williams, Kathryn; Faldowski, Richard A.; Baranek, Grace T.

2017-01-01

Atypical sensory and repetitive behaviors are defining features of autism spectrum disorder (ASD) and are thought to be influenced by environmental factors; however, there is a lack of naturalistic research exploring contexts surrounding these behaviors. The current study involved video recording observations of 32 children with ASD (2 – 12 years of age) engaging in sensory and repetitive behaviors during home activities. Behavioral coding was used to determine what activity contexts, sensory modalities, and stimulus characteristics were associated with specific behavior types: hyperresponsive, hyporesponsive, sensory seeking, and repetitive/stereotypic. Results indicated that hyperresponsive behaviors were most associated with activities of daily living and family-initiated stimuli, whereas sensory seeking behaviors were associated with free play activities and child-initiated stimuli. Behaviors associated with multiple sensory modalities simultaneously were common, emphasizing the multi-sensory nature of children’s behaviors in natural contexts. Implications for future research more explicitly considering context are discussed. PMID:27091950

Care Partnerships: Toward Technology to Support Teens’ Participation in Their Health Care

PubMed Central

Hong, Matthew K.; Wilcox, Lauren; Machado, Daniel; Olson, Thomas A.; Simoneaux, Stephen F.

2016-01-01

Adolescents with complex chronic illnesses, such as cancer and blood disorders, must partner with family and clinical caregivers to navigate risky procedures with life-altering implications, burdensome symptoms and lifelong treatments. Yet, there has been little investigation into how technology can support these partnerships. We conducted 38 in-depth interviews (15 with teenage adolescents with chronic forms of cancer and blood disorders, 15 with their parents, and eight with clinical caregivers) along with nine non-participant observations of clinical consultations to better understand common challenges and needs that could be supported through design. Participants faced challenges primarily concerning: 1) teens’ limited participation in their care, 2) communicating emotionally-sensitive information, and 3) managing physical and emotional responses. We draw on these findings to propose design goals for sociotechnical systems to support teens in partnering in their care, highlighting the need for design to support gradually evolving partnerships in care. PMID:28164178

Social Anhedonia Is Not Just Extreme Introversion: Empirical Evidence of Distinct Constructs.

PubMed

Martin, Elizabeth A; Cicero, David C; Bailey, Drew H; Karcher, Nicole R; Kerns, John G

2016-08-01

Social anhedonia and introversion, two closely related constructs associated with decreased positive emotions and decreased sociability, are common in schizophrenia-spectrum personality disorders. In light of a myriad of mixed findings regarding positive emotionality in anhedonia, there has been a call to reconceptualize "anhedonia." To clarify the nature of social anhedonia, we used confirmatory factor analysis to investigate the relationship between social anhedonia and introversion. Findings were consistent with the conceptualization of social anhedonia as a separate construct from introversion-the best fitting model was one in which social anhedonia and introversion measures loaded separately. Also consistent with the conceptualization of social anhedonia as separate, we found evidence that it was associated with aspects of alexithymia above and beyond any relationship with introversion. Overall, these results have implications for the understanding of social anhedonia and for the use of it as a discriminating factor between personality disorders characterized by introversion.

Recent Advances in the Study of Sleep in the Anxiety Disorders, Obsessive-Compulsive Disorder, and Posttraumatic Stress Disorder.

PubMed

Boland, Elaine M; Ross, Richard J

2015-12-01

Sleep disturbance is frequently associated with generalized anxiety disorder, panic disorder, obsessive-compulsive disorder, and posttraumatic stress disorder. This article reviews recent advances in understanding the mechanisms of the sleep disturbances in these disorders and discusses the implications for developing improved treatments. Published by Elsevier Inc.

Is the Relationship between Common Mental Disorder and Adiposity Bidirectional? Prospective Analyses of a UK General Population-Based Study.

PubMed

Fezeu, Léopold K; Batty, G David; Batty, David G; Gale, Catharine R; Kivimaki, Mika; Hercberg, Serge; Czernichow, Sebastien

2015-01-01

The direction of the association between mental health and adiposity is poorly understood. Our objective was to empirically examine this link in a UK study. This is a prospective cohort study of 3 388 people (men) aged ≥ 18 years at study induction who participated in both the UK Health and Lifestyle Survey at baseline (HALS-1, 1984/1985) and the re-survey (HALS-2, 1991/1992). At both survey examinations, body mass index, waist circumference and self-reported common mental disorder (the 30-item General Health Questionnaire, GHQ) were measured. Logistic regression models were used to compute odds ratios (OR) and accompanying 95% confidence intervals (CI) for the associations between (1) baseline common mental disorder (QHQ score > 4) and subsequent general and abdominal obesity and (2) baseline general and abdominal obesity and re-survey common mental disorders. After controlling for a range of covariates, participants with common mental disorder at baseline experienced greater odds of subsequently becoming overweight (women, OR: 1.30, 1.03 - 1.64; men, 1.05, 0.81 - 1.38) and obese (women, 1.26, 0.82 - 1.94; men, OR: 2.10, 1.23 - 3.55) than those who were free of common mental disorder. Similarly, having baseline common mental health disorder was also related to a greater risk of developing moderate (1.57, 1.21 - 2.04) and severe (1.48, 1.09 - 2.01) abdominal obesity (women only). Baseline general or abdominal obesity was not associated with the risk of future common mental disorder. These findings of the present study suggest that the direction of association between common mental disorders and adiposity is from common mental disorder to increased future risk of adiposity as opposed to the converse.

Synaptic, transcriptional and chromatin genes disrupted in autism.

PubMed

De Rubeis, Silvia; He, Xin; Goldberg, Arthur P; Poultney, Christopher S; Samocha, Kaitlin; Cicek, A Erucment; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarinder; Klei, Lambertus; Kosmicki, Jack; Shih-Chen, Fu; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Carracedo, Angel; Chahrour, Maria H; Chiocchetti, Andreas G; Coon, Hilary; Crawford, Emily L; Curran, Sarah R; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Gallagher, Louise; Geller, Evan; Guter, Stephen J; Hill, R Sean; Ionita-Laza, Juliana; Jimenz Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lee, Irene; Lei, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R; McInnes, Alison L; Neale, Benjamin; Owen, Michael J; Ozaki, Noriio; Parellada, Mara; Parr, Jeremy R; Purcell, Shaun; Puura, Kaija; Rajagopalan, Deepthi; Rehnström, Karola; Reichenberg, Abraham; Sabo, Aniko; Sachse, Michael; Sanders, Stephan J; Schafer, Chad; Schulte-Rüther, Martin; Skuse, David; Stevens, Christine; Szatmari, Peter; Tammimies, Kristiina; Valladares, Otto; Voran, Annette; Li-San, Wang; Weiss, Lauren A; Willsey, A Jeremy; Yu, Timothy W; Yuen, Ryan K C; Cook, Edwin H; Freitag, Christine M; Gill, Michael; Hultman, Christina M; Lehner, Thomas; Palotie, Aaarno; Schellenberg, Gerard D; Sklar, Pamela; State, Matthew W; Sutcliffe, James S; Walsh, Christiopher A; Scherer, Stephen W; Zwick, Michael E; Barett, Jeffrey C; Cutler, David J; Roeder, Kathryn; Devlin, Bernie; Daly, Mark J; Buxbaum, Joseph D

2014-11-13

The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.

Current Concepts of Hyperinflammation in Chronic Granulomatous Disease

PubMed Central

Rieber, Nikolaus; Hector, Andreas; Kuijpers, Taco; Roos, Dirk; Hartl, Dominik

2012-01-01

Chronic granulomatous disease (CGD) is the most common inherited disorder of phagocytic functions, caused by genetic defects in the leukocyte nicotinamide dinucleotide phosphate (NADPH) oxidase. Consequently, CGD phagocytes are impaired in destroying phagocytosed microorganisms, rendering the patients susceptible to bacterial and fungal infections. Besides this immunodeficiency, CGD patients suffer from various autoinflammatory symptoms, such as granuloma formation in the skin or urinary tract and Crohn-like colitis. Owing to improved antimicrobial treatment strategies, the majority of CGD patients reaches adulthood, yet the autoinflammatory manifestations become more prominent by lack of causative treatment options. The underlying pathomechanisms driving hyperinflammatory reactions in CGD are poorly understood, but recent studies implicate reduced neutrophil apoptosis and efferocytosis, dysbalanced innate immune receptors, altered T-cell surface redox levels, induction of Th17 cells, the enzyme indolamine-2,3-dioxygenase (IDO), impaired Nrf2 activity, and inflammasome activation. Here we discuss immunological mechanisms of hyperinflammation and their potential therapeutic implications in CGD. PMID:21808651

Role of tissue-type plasminogen activator and plasminogen activator inhibitor-1 in psychological stress and depression.

PubMed

Tsai, Shih-Jen

2017-12-22

Major depressive disorder is a common illness worldwide, but the pathogenesis of the disorder remains incompletely understood. The tissue-type plasminogen activator-plasminogen proteolytic cascade is highly expressed in the brain regions involved in mood regulation and neuroplasticity. Accumulating evidence from animal and human studies suggests that tissue-type plasminogen activator and its chief inhibitor, plasminogen activator inhibitor-1, are related to stress reaction and depression. Furthermore, the neurotrophic hypothesis of depression postulates that compromised neurotrophin brain-derived neurotrophic factor (BDNF) function is directly involved in the pathophysiology of depression. In the brain, the proteolytic cleavage of proBDNF, a BDNF precursor, to mature BDNF through plasmin represents one mechanism that can change the direction of BDNF action. We also discuss the implications of tissue-type plasminogen activator and plasminogen activator inhibitor-1 alterations as biomarkers for major depressive disorder. Using drugs that increase tissue-type plasminogen activator or decrease plasminogen activator inhibitor-1 levels may open new avenues to develop conceptually novel therapeutic strategies for depression treatment.

Recent developments in the genetics of ADHD.

PubMed

Grimm, Oliver; Kittel-Schneider, Sarah; Reif, Andreas

2018-05-02

Attention deficit hyperactivity disorder (ADHD) is a developmental psychiatric disorder which affects children and adults. ADHD is one of the psychiatric disorders with the strongest genetic basis according to familial, twin and SNP-based epidemiological studies. In this review, we provide an update of recent insights in the genetic basis of ADHD. We discuss recent progress from genome-wide association studies (GWAS) looking at common variants as well as rare copy number variations (CNVs). New analysis of gene groups, so-called functional ontologies, provide some insight into the gene networks afflicted, pointing to the role of neurodevelopmentally expressed gene-networks. Bioinformatic methods such as functional enrichment analysis and protein-protein network analysis are used to highlight biological processes of likely relevance to the aetiology of ADHD. Additionally, CNVs seem to map on important pathways implicated in synaptic signalling and neurodevelopment. While some candidate gene associations of e.g. neurotransmitter receptors and signalling have been replicated, they do not seem to explain significant variance in recent GWAS. We discuss insights from recent case-control SNP-GWAS which gave whole-genome significant SNPs in ADHD. This article is protected by copyright. All rights reserved.

Pathological classification of equine recurrent laryngeal neuropathy.

PubMed

Draper, Alexandra C E; Piercy, Richard J

2018-04-24

Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left-sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle paresis. The associated laryngeal dysfunction and exercise intolerance in athletic horses commonly leads to surgical intervention, retirement or euthanasia with associated financial and welfare implications. Despite speculation, there is a lack of consensus and conflicting evidence supporting the primary classification of RLN, as either a distal ("dying back") axonopathy or as a primary myelinopathy and as either a (bilateral) mononeuropathy or a polyneuropathy; this uncertainty hinders etiological and pathophysiological research. In this review, we discuss the neuropathological changes and electrophysiological deficits reported in the RLn of affected horses, and the evidence for correct classification of the disorder. In so doing, we summarize and reveal the limitations of much historical research on RLN and propose future directions that might best help identify the etiology and pathophysiology of this enigmatic disorder. Copyright © 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

The quartet theory: Implications for autism spectrum disorder. Comment on "The quartet theory of human emotions: An integrative and neurofunctional model" by S. Koelsch et al.

NASA Astrophysics Data System (ADS)

Pehrs, Corinna; Samson, Andrea C.; Gross, James J.

2015-06-01

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits as well as restricted and repetitive behaviors [1]. Specific deficits include failure to initiate reciprocal social interactions, verbal and non-verbal communication difficulties, decreased sensitivity to social and emotional cues, and limited perspective-taking abilities. Social withdrawal, avoidance or indifference to affection or physical contact, lack of eye contact, and decreased joint attention and facial responsiveness are also common [2]. In addition to these core features, there is a growing body of literature that describes problematic patterns of emotional reactivity (increased negative and decreased positive emotions) and emotion regulation (increased use of maladaptive and decreased use of adaptive emotion regulation strategies) [3-5]. The present comment seeks to link difficulties in socio-emotional domains to the Quartet Theory of Human Emotions by mapping characteristic ASD social deficits and emotion dysregulation onto two of the affect systems described in this theory: the hippocampal and orbitofrontal-centered systems.

Do schema processes mediate links between parenting and eating pathology?

PubMed

Sheffield, Alex; Waller, Glenn; Emanuelli, Francesca; Murray, James; Meyer, Caroline

2009-07-01

Adverse parenting experiences are commonly linked to eating pathology. A schema-based model of the development and maintenance of eating pathology proposes that one of the potential mediators of the link between parenting and eating pathology might be the development of schema maintenance processes--mechanisms that operate to help the individual avoid intolerable emotions. To test this hypothesis, 353 female students and 124 female eating-disordered clients were recruited. They completed a measure of perceived parenting experiences as related to schema development (Young Parenting Inventory-Revised (YPI-R)), two measures of schema processes (Young Compensatory Inventory; Young-Rygh Avoidance Inventory (YRAI)) and a measure of eating pathology (Eating Disorders Inventory (EDI)). In support of the hypothesis, certain schema processes did mediate the relationship between specific perceptions of parenting and particular forms of eating pathology, although these were different for the clinical and non-clinical samples. In those patients where parenting is implicated in the development of eating pathology, treatment might need to target the cognitive processes that can explain this link. 2009 John Wiley & Sons, Ltd and Eating Disorders Association

Androgens and polycystic ovary syndrome.

PubMed

Nisenblat, Vicki; Norman, Robert J

2009-06-01

Polycystic ovary syndrome (PCOS) is a common complex endocrine genetic disorder, which involves overproduction of androgens, leading to heterogeneous range of symptoms and associated with increased metabolic and cardiovascular morbidity. This review focuses on androgen biosynthesis, use, metabolism in PCOS and clinical consequences of hyperandrogenism. Controversial definition of the disorder and different phenotypic subgroups present a challenge for clinical and basic research. Further investigation of different phenotypes highlights the fact that PCOS probably represents a group of disorders with different etiologies. Prenatal androgen exposure and adolescent studies suggest early in life androgen excess as initiating factor of PCOS, but insufficient evidence available to confirm this hypothesis. Various intracellular signaling pathways implicated in PCOS steroidogenesis and in androgen action have been studied, however, PCOS pathogenesis remains obscure. Growing evidence links androgens with pathophysiology of PCOS and metabolic derangements. Despite intensive investigation, etiology and underlying mechanisms of PCOS remain unclear, warranting further investigation. Better understanding of molecular and genetic basis might lead to invention of novel therapeutic approaches. Long-term interventional studies that lower androgen levels in women with hyperandrogenism might protect against metabolic and cardiovascular comorbidities are needed.

A Comprehensive Review of Hypertension in Pregnancy

PubMed Central

Mustafa, Reem; Ahmed, Sana; Gupta, Anu; Venuto, Rocco C.

2012-01-01

Hypertension is the most common medical disorder encountered during pregnancy. Hypertensive disorders are one of the major causes of pregnancy-related maternal deaths in the United States. We will present a comprehensive update of the literature pertinent to hypertension in pregnancy. The paper begins by defining and classifying hypertensive disorders in pregnancy. The normal vascular and renal physiological changes which occur during pregnancy are detailed. We will summarize the intriguing aspects of pathophysiology of preeclampsia, emphasizing on recent advances in this field. The existing diagnostic tools and the tests which have been proposed for screening preeclampsia are comprehensively described. We also highlight the short- and long-term implications of preeclampsia. Finally, we review the current management guidelines, goals of treatment and describe the potential risks and benefits associated with various antihypertensive drug classes. Preeclampsia still remains an enigma, and the present management focuses on monitoring and treatment of its manifestations. We are hopeful that this in depth critique will stimulate the blossoming research in the field and assist practitioners to identify women at risk and more effectively treat affected individuals. PMID:22685661

Suicidal Behavior and Alcohol Abuse

PubMed Central

Pompili, Maurizio; Serafini, Gianluca; Innamorati, Marco; Dominici, Giovanni; Ferracuti, Stefano; Kotzalidis, Giorgio D.; Serra, Giulia; Girardi, Paolo; Janiri, Luigi; Tatarelli, Roberto; Sher, Leo; Lester, David

2010-01-01

Suicide is an escalating public health problem, and alcohol use has consistently been implicated in the precipitation of suicidal behavior. Alcohol abuse may lead to suicidality through disinhibition, impulsiveness and impaired judgment, but it may also be used as a means to ease the distress associated with committing an act of suicide. We reviewed evidence of the relationship between alcohol use and suicide through a search of MedLine and PsychInfo electronic databases. Multiple genetically-related intermediate phenotypes might influence the relationship between alcohol and suicide. Psychiatric disorders, including psychosis, mood disorders and anxiety disorders, as well as susceptibility to stress, might increase the risk of suicidal behavior, but may also have reciprocal influences with alcohol drinking patterns. Increased suicide risk may be heralded by social withdrawal, breakdown of social bonds, and social marginalization, which are common outcomes of untreated alcohol abuse and dependence. People with alcohol dependence or depression should be screened for other psychiatric symptoms and for suicidality. Programs for suicide prevention must take into account drinking habits and should reinforce healthy behavioral patterns. PMID:20617037

Melatonin in Children with Autism Spectrum Disorders: How Does the Evidence Fit Together?

PubMed

Veatch, Olivia J; Goldman, Suzanne E; Adkins, Karen W; Malow, Beth A

Autism spectrum disorders (ASD) are prevalent neurodevelopmental conditions, affecting 1 in 68 children in the United States alone. Sleep disturbance, particularly insomnia, is very common in children diagnosed with ASD, with evidence supporting overlapping neurobiological and genetic underpinnings. One of the most well studied mechanisms related to ASD and insomnia is dysregulation of the melatonin pathway, which has been observed in many individuals with ASD compared to typically developing controls. Furthermore, variation in genes whose products regulate endogenous melatonin modify sleep patterns in humans and have also been implicated in some cases of ASD. However, the relationship between comorbid insomnia, melatonin processing, and genes that regulate endogenous melatonin levels in ASD is complex and requires further study to fully elucidate. The aim of this review is to provide an overview of the current findings related to the effects of genetic variation in the melatonergic pathway on risk for expression of sleep disorders in children with ASD. In addition, functional findings related to endogenous levels of melatonin and pharmacokinetic profiles in this patient population are evaluated.

Suppressed acoustic startle response in traumatic brain injury masks post-traumatic stress disorder hyper-responsivity.

PubMed

Liska, Grant M; Lee, Jea-Young; Xu, Kaya; Sanberg, Paul R; Borlongan, Cesario V

2018-05-21

An exaggerated acoustic startle reflex (ASR) is a clinical indicator of anxiety disorders, such as post-traumatic stress disorder (PTSD). Given the prevalence of PTSD following traumatic brain injury (TBI), we studied the effects of TBI on ASR. Adult Sprague Dawley rats exposed to moderate controlled cortical impact injury model of TBI displayed suppression of ASR intensity and sensitivity. As patients with PTSD have been shown to display hyperactive startle responses, the present discrepant observation of TBI-induced suppression of ASR has clinical implications, in that the reduced, instead of elevated, startle response in patients with comorbid TBI/PTSD could be owing to a masking effect of TBI.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/.

Common and distinct neural targets of treatment: changing brain function in substance addiction.

PubMed

Konova, Anna B; Moeller, Scott J; Goldstein, Rita Z

2013-12-01

Neuroimaging offers an opportunity to examine the neurobiological effects of therapeutic interventions for human drug addiction. Using activation likelihood estimation, the aim of the current meta-analysis was to quantitatively summarize functional neuroimaging studies of pharmacological and cognitive-based interventions for drug addiction, with an emphasis on their common and distinct neural targets. More exploratory analyses also contrasted subgroups of studies based on specific study and sample characteristics. The ventral striatum, a region implicated in reward, motivation, and craving, and the inferior frontal gyrus and orbitofrontal cortex, regions involved in inhibitory control and goal-directed behavior, were identified as common targets of pharmacological and cognitive-based interventions; these regions were observed when the analysis was limited to only studies that used established or efficacious interventions, and across imaging paradigms and types of addictions. Consistent with theoretical models, cognitive-based interventions were additionally more likely to activate the anterior cingulate cortex, middle frontal gyrus, and precuneus, implicated in self-referential processing, cognitive control, and attention. These results suggest that therapeutic interventions for addiction may target the brain structures that are altered across addictions and identify potential neurobiological mechanisms by which the tandem use of pharmacological and cognitive-based interventions may yield synergistic or complementary effects. These findings could inform the selection of novel functional targets in future treatment development for this difficult-to-treat disorder. Copyright © 2013 Elsevier Ltd. All rights reserved.

Common and distinct neural targets of treatment: changing brain function in substance addiction

PubMed Central

Konova, Anna B.; Moeller, Scott J.; Goldstein, Rita Z.

2013-01-01

Neuroimaging offers an opportunity to examine the neurobiological effects of therapeutic interventions for human drug addiction. Using activation likelihood estimation, the aim of the current meta-analysis was to quantitatively summarize functional neuroimaging studies of pharmacological and cognitive-based interventions for drug addiction, with an emphasis on their common and distinct neural targets. More exploratory analyses also contrasted subgroups of studies based on specific study and sample characteristics. The ventral striatum, a region implicated in reward, motivation, and craving, and the inferior frontal gyrus and orbitofrontal cortex, regions involved in inhibitory control goal-directed behavior, were identified as common targets of pharmacological and cognitive-based interventions; these regions were observed when the analysis was limited to only studies that used established or efficacious interventions, and across imaging paradigms and types of addictions. Consistent with theoretical models, cognitive-based interventions were additionally more likely to activate the anterior cingulate cortex, middle frontal gyrus, and precuneus, implicated in self-referential processing, cognitive control, and attention. These results suggest that therapeutic interventions for addiction may target the brain structures that are altered across addictions and identify potential neurobiological mechanisms by which the tandem use of pharmacological and cognitive-based interventions may yield synergistic or complementary effects. These findings could inform the selection of novel functional targets in future treatment development for this difficult-to-treat disorder. PMID:24140399

Panic Disorder and Agoraphobia in OCD patients: clinical profile and possible treatment implications.

PubMed

Torres, Albina R; Ferrão, Ygor A; Shavitt, Roseli G; Diniz, Juliana B; Costa, Daniel L C; do Rosário, Maria Conceição; Miguel, Euripedes C; Fontenelle, Leonardo F

2014-04-01

Panic Disorder (PD) and agoraphobia (AG) are frequently comorbid with obsessive-compulsive disorder (OCD), but the correlates of these comorbidities in OCD are fairly unknown. The study aims were to: 1) estimate the prevalence of PD with or without AG (PD), AG without panic (AG) and PD and/or AG (PD/AG) in a large clinical sample of OCD patients and 2) compare the characteristics of individuals with and without these comorbid conditions. A cross-sectional study with 1001 patients of the Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders using several assessment instruments, including the Dimensional Yale-Brown Obsessive-Compulsive Scale and the Structured Clinical Interview for DSM-IV-TR Axis I Disorders. Bivariate analyses were followed by logistic regression models. The lifetime prevalence of PD was 15.3% (N=153), of AG 4.9% (N=49), and of PD/AG 20.2% (N=202). After logistic regression, hypochondriasis and specific phobia were common correlates of the three study groups. PD comorbidity was also associated with higher levels of anxiety, having children, major depression, bipolar I, generalized anxiety and posttraumatic stress disorders. Other independent correlates of AG were: dysthymia, bipolar II disorder, social phobia, impulsive-compulsive internet use, bulimia nervosa and binge eating disorder. Patients with PD/AG were also more likely to be married and to present high anxiety, separation anxiety disorder, major depression, impulsive-compulsive internet use, generalized anxiety, posttraumatic stress and binge eating disorders. Some distinct correlates were obtained for PD and AG in OCD patients, indicating the need for more specific and tailored treatment strategies for individuals with each of these clinical profiles. Copyright © 2014 Elsevier Inc. All rights reserved.

What Can Psychiatric Disorders Tell Us about Neural Processing of the Self?

PubMed

Zhao, Weihua; Luo, Lizhu; Li, Qin; Kendrick, Keith M

2013-01-01

Many psychiatric disorders are associated with abnormal self-processing. While these disorders also have a wide-range of complex, and often heterogeneous sets of symptoms involving different cognitive, emotional, and motor domains, an impaired sense of self can contribute to many of these. Research investigating self-processing in healthy subjects has facilitated identification of changes in specific neural circuits which may cause altered self-processing in psychiatric disorders. While there is evidence for altered self-processing in many psychiatric disorders, here we will focus on four of the most studied ones, schizophrenia, autism spectrum disorder (ASD), major depression, and borderline personality disorder (BPD). We review evidence for dysfunction in two different neural systems implicated in self-processing, namely the cortical midline system (CMS) and the mirror neuron system (MNS), as well as contributions from altered inter-hemispheric connectivity (IHC). We conclude that while abnormalities in frontal-parietal activity and/or connectivity in the CMS are common to all four disorders there is more disruption of integration between frontal and parietal regions resulting in a shift toward parietal control in schizophrenia and ASD which may contribute to the greater severity and delusional aspects of their symptoms. Abnormalities in the MNS and in IHC are also particularly evident in schizophrenia and ASD and may lead to disturbances in sense of agency and the physical self in these two disorders. A better future understanding of how changes in the neural systems sub-serving self-processing contribute to different aspects of symptom abnormality in psychiatric disorders will require that more studies carry out detailed individual assessments of altered self-processing in conjunction with measurements of neural functioning.

Chronic Unpredictable Stress (CUS)-Induced Anxiety and Related Mood Disorders in a Zebrafish Model: Altered Brain Proteome Profile Implicates Mitochondrial Dysfunction

PubMed Central

Chakravarty, Sumana; Reddy, Bommana R.; Sudhakar, Sreesha R.; Saxena, Sandeep; Das, Tapatee; Meghah, Vuppalapaty; Brahmendra Swamy, Cherukuvada V.; Kumar, Arvind; Idris, Mohammed M.

2013-01-01

Anxiety and depression are major chronic mood disorders, and the etiopathology for each appears to be repeated exposure to diverse unpredictable stress factors. Most of the studies on anxiety and related mood disorders are performed in rodents, and a good model is chronic unpredictable stress (CUS). In this study, we have attempted to understand the molecular basis of the neuroglial and behavioral changes underlying CUS-induced mood disorders in the simplest vertebrate model, the zebrafish, Danio rerio. Zebrafish were subjected to a CUS paradigm in which two different stressors were used daily for 15 days, and thorough behavioral analyses were performed to assess anxiety and related mood disorder phenotypes using the novel tank test, shoal cohesion and scototaxis. Fifteen days of exposure to chronic stressors appears to induce an anxiety and related mood disorder phenotype. Decreased neurogenesis, another hallmark of anxiety and related disorders in rodents, was also observed in this zebrafish model. The common molecular markers of rodent anxiety and related disorders, corticotropin-releasing factor (CRF), calcineurin (ppp3r1a) and phospho cyclic AMP response element binding protein (pCREB), were also replicated in the fish model. Finally, using 2DE FTMS/ITMSMS proteomics analyses, 18 proteins were found to be deregulated in zebrafish anxiety and related disorders. The most affected process was mitochondrial function, 4 of the 18 differentially regulated proteins were mitochondrial proteins: PHB2, SLC25A5, VDAC3 and IDH2, as reported in rodent and clinical samples. Thus, the zebrafish CUS model and proteomics can facilitate not only uncovering new molecular targets of anxiety and related mood disorders but also the routine screening of compounds for drug development. PMID:23691016

Prime and prejudice: The effect of priming context and prejudicial attitudes on post-traumatic stress disorder symptoms following immigrant violence.

PubMed

Hoffman, Yaakov; Shrira, Amit; Bodner, Ehud; Ben-Ezra, Menachem

2017-08-01

The recent arrival of immigrants into many western countries has become common. Clashes between immigrants and local residents may produce acts of violence. In two studies we assessed post-traumatic stress disorder (PTSD) symptoms in local residents exposed to immigrant violence, while addressing possible effects of priming context and prejudicial attitudes. In Study 1, context was either reminiscent/non-reminiscent of experiencing African immigrant violence (researcher with same/different ethnic origin to that of perpetrators). In Study 2, context was manipulated as a negative ("illegal-migrant") or neutral ("working-immigrant") framing for African immigrants. We also examined if effects of context on trauma symptoms are moderated by prejudicial attitudes towards African immigrants. As expected, higher PTSD symptom levels were evident in the presence of traumatic (Study 1) and negative (Study 2) context, yet only in residents with high prejudicial attitudes. Results suggest that both contexts and prejudice play a role in assessment of PTSD stemming from cultural conflicts. Theoretical implications of the data in terms of PTSD memory theories, are discussed including the notion of a PTSD context theory. Practical implications pertaining to the potential compatibility of researchers and therapists with trauma victims are also addressed. Copyright © 2017. Published by Elsevier B.V.

The role of dopamine in risk taking: a specific look at Parkinson’s disease and gambling

PubMed Central

Clark, Crystal A.; Dagher, Alain

2014-01-01

An influential model suggests that dopamine signals the difference between predicted and experienced reward. In this way, dopamine can act as a learning signal that can shape behaviors to maximize rewards and avoid punishments. Dopamine is also thought to invigorate reward seeking behavior. Loss of dopamine signaling is the major abnormality in Parkinson’s disease. Dopamine agonists have been implicated in the occurrence of impulse control disorders in Parkinson’s disease patients, the most common being pathological gambling, compulsive sexual behavior, and compulsive buying. Recently, a number of functional imaging studies investigating impulse control disorders in Parkinson’s disease have been published. Here we review this literature, and attempt to place it within a decision-making framework in which potential gains and losses are evaluated to arrive at optimum choices. We also provide a hypothetical but still incomplete model on the effect of dopamine agonist treatment on these value and risk assessments. Two of the main brain structures thought to be involved in computing aspects of reward and loss are the ventral striatum (VStr) and the insula, both dopamine projection sites. Both structures are consistently implicated in functional brain imaging studies of pathological gambling in Parkinson’s disease. PMID:24910600

Shaping the Future for Children with Foetal Alcohol Spectrum Disorders

ERIC Educational Resources Information Center

Blackburn, Carolyn; Carpenter, Barry; Egerton, Jo

2010-01-01

This article describes work undertaken in connection with an ongoing research project funded by the Training and Development Agency for Schools. It illustrates the educational implications of foetal alcohol spectrum disorders (FASD) and its implications for the educational workforce in seeking to meet the needs of those children who are affected.

[Acute lymphoblastic leukemia of T progenitors: from biology to clinics].

PubMed

Genescà, Eulàlia; Ribera, Jordi; Ribera, Josep-Maria

2015-03-09

Acute lymphoblastic leukemia (ALL) is the most common cancer in children and the main cause of morbidity among childhood blood disorders. There are 2 subtypes according to the affected lymphoid progenitor: B-ALL and T-ALL. The T-ALL is the less common and, although historically was associated with poor prognosis in both adults and children, at present, treatment outcomes do not differ significantly between the 2 types of ALL. The T-ALL subtype is the most complex and heterogeneous at the genetic level and currently the one with less new therapeutic alternatives available. This trend is changing thanks to the remarkable progress upon understanding its biology. This review summarizes the most recent and important biological findings in T-ALL and their possible therapeutic implications. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Direct and retrospective assessment of factors contributing to compulsive buying.

PubMed

Miltenberger, Raymond G; Redlin, Jennifer; Crosby, Ross; Stickney, Marcella; Mitchell, Jim; Wonderlich, Stephen; Faber, Ronald; Smyth, Joshua

2003-03-01

Compulsive buying is a disorder that has begun to receive attention from researchers in recent years. The results of a handful of studies suggest that compulsive buying occurs in response to negative emotions and results in a decrease in the intensity of the negative emotions. In this investigation, we used interview and self-monitoring methods to evaluate the antecedents and consequences of compulsive buying in a sample of women who met criteria for compulsive buying on the compulsive buying scale (J. Consumer Res. 19 (1992) 459). As a group, the participants reported negative emotions as the most common antecedents to compulsive buying, and euphoria or relief from the negative emotions as the most common consequence of compulsive buying. These findings were consistent across the interview and self-monitoring assessment methods. The implications for assessment and treatment are discussed.

A population-based survey in Australia of men's and women's perceptions of genetic risk and predictive genetic testing and implications for primary care.

PubMed

Taylor, S

2011-01-01

Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services. This article aims to report population-based attitudes and discuss their relevance to integrating genetic services in primary health contexts. Men's and women's attitudes were investigated via population-based omnibus telephone survey in Queensland, Australia. Randomly selected adults (n = 1,230) with a mean age of 48.8 years were interviewed regarding perceptions of genetic determinants of health; benefits of genetic testing that predict 'certain' versus 'probable' future illness; and concern, if any, regarding potential misuse of genetic test information. Most (75%) respondents believed genetic factors significantly influenced health status; 85% regarded genetic testing positively although attitudes varied with age. Risk-based information was less valued than certainty-based information, but women valued risk information significantly more highly than men. Respondents reported 'concern' (44%) and 'no concern' (47%) regarding potential misuse of genetic information. This study contributes important population-based data as most research has involved selected individuals closely impacted by genetic disorders. While community attitudes were positive regarding genetic testing, genetic literacy is important to establish. The nature of gender differences regarding risk perception merits further study and has policy and service implications. Community concern about potential genetic discrimination must be addressed if health benefits of testing are to be maximised. Larger questions remain in scientific, policy, service delivery, and professional practice domains before predictive testing for common disorders is efficacious in mainstream health care. Copyright © 2011 S. Karger AG, Basel.

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

PubMed Central

Trucks, Holger; Schulz, Herbert; de Kovel, Carolien G.; Kasteleijn-Nolst Trenité, Dorothée; Sonsma, Anja C. M.; Koeleman, Bobby P.; Lindhout, Dick; Weber, Yvonne G.; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Surges, Rainer; Elger, Christian E.; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M.; Rosenow, Felix; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Møller, Rikke S.; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nürnberg, Peter; Sander, Thomas

2015-01-01

Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (≥ 400 kb) and rare (< 1%) autosomal microdeletions with high calling confidence (≥ 200 markers) were assessed by the Affymetrix SNP 6.0 array in European case-control cohorts of 1,366 GGE patients and 5,234 ancestry-matched controls. We aimed to: 1) assess the microdeletion burden in common GGE syndromes, 2) estimate the relative contribution of recurrent microdeletions at genomic rearrangement hotspots and non-recurrent microdeletions, and 3) identify potential candidate genes for GGE. We found a significant excess of microdeletions in 7.3% of GGE patients compared to 4.0% in controls (P = 1.8 x 10-7; OR = 1.9). Recurrent microdeletions at seven known genomic hotspots accounted for 36.9% of all microdeletions identified in the GGE cohort and showed a 7.5-fold increased burden (P = 2.6 x 10-17) relative to controls. Microdeletions affecting either a gene previously implicated in neurodevelopmental disorders (P = 8.0 x 10-18, OR = 4.6) or an evolutionarily conserved brain-expressed gene related to autism spectrum disorder (P = 1.3 x 10-12, OR = 4.1) were significantly enriched in the GGE patients. Microdeletions found only in GGE patients harboured a high proportion of genes previously associated with epilepsy and neuropsychiatric disorders (NRXN1, RBFOX1, PCDH7, KCNA2, EPM2A, RORB, PLCB1). Our results demonstrate that the significantly increased burden of large and rare microdeletions in GGE patients is largely confined to recurrent hotspot microdeletions and microdeletions affecting neurodevelopmental genes, suggesting a strong impact of fundamental neurodevelopmental processes in the pathogenesis of common GGE syndromes. PMID:25950944

Children with Communication Disorders. ERIC Digest #E470 (Revised #419).

ERIC Educational Resources Information Center

Council for Exceptional Children, Reston, VA.

This digest defines the term "communication disorders," states prevalence rates for the condition, describes characteristics of children with communication disorders, and outlines educational implications. Thirteen publications on communication disorders and six organizational resources are listed. (JDD)

Risk factors for common mental disorders in women. Population-based longitudinal study.

PubMed

Patel, Vikram; Kirkwood, Betty R; Pednekar, Sulochana; Weiss, Helen; Mabey, David

2006-12-01

The determinants of common mental disorders in women have not been described in longitudinal studies from a low-income country. Population-based cohort study of 2494 women aged 18 to 50 years, in India. The Revised Clinical Interview Schedule was used for the detection of common mental disorders. There were 39 incident cases of common mental disorder in 2166 participants eligible for analysis (12-month rate 1.8%, 95% CI 1.3-2.4%). The following baseline factors were independently associated with the risk for common mental disorder: poverty (low income and having difficulty making ends meet); being married as compared with being single; use of tobacco; experiencing abnormal vaginal discharge; reporting a chronic physical illness; and having higher psychological symptom scores at baseline. Programmes to reduce the burden of common mental disorder in women should target poorer women, women with chronic physical illness and who have gynaecological symptoms, and women who use tobacco.

[Common mental disorders and self-esteem in pregnancy: prevalence and associated factors].

PubMed

Silva, Ricardo Azevedo da; Ores, Liliane da Costa; Mondin, Thaíse Campos; Rizzo, Raquel Nolasco; Moraes, Inácia Gomes da Silva; Jansen, Karen; Pinheiro, Ricardo Tavares

2010-09-01

The aim of this study was to assess the prevalence of common mental disorders and the association with self-esteem and other factors in pregnant women. A nested cross-sectional study was performed in a cohort of pregnant women treated in the public health system in Pelotas, Rio Grande do Sul State, Brazil. The Self-Reporting Questionnaire (SRQ-20) was used to screen for common mental disorders and the Rosenberg's Self-Esteem Scale for self-esteem. The sample consisted of 1,267 pregnant women with a mean age of 25 years (SD = 6.53). Mean self-esteem was 9.3 points (SD = 4.76), and prevalence of common mental disorders was 41.4%. Lower self-esteem was associated with higher odds of common mental disorders (p < 0.001). There was a significant association between higher prevalence of common mental disorders and low self-esteem.

A Deletion Variant of the α2b-Adrenoceptor Modulates the Stress-Induced Shift from "Cognitive" to "Habit" Memory.

PubMed

Wirz, Lisa; Wacker, Jan; Felten, Andrea; Reuter, Martin; Schwabe, Lars

2017-02-22

Stress induces a shift from hippocampus-based "cognitive" toward dorsal striatum-based "habitual" learning and memory. This shift is thought to have important implications for stress-related psychopathologies, including post-traumatic stress disorder (PTSD). However, there is large individual variability in the stress-induced bias toward habit memory, and the factors underlying this variability are completely unknown. Here we hypothesized that a functional deletion variant of the gene encoding the α2b-adrenoceptor ( ADRA2B ), which has been linked to emotional memory processes and increased PTSD risk, modulates the stress-induced shift from cognitive toward habit memory. In two independent experimental studies, healthy humans were genotyped for the ADRA2B deletion variant. After a stress or control manipulation, participants completed a dual-solution learning task while electroencephalographic (Study I) or fMRI measurements (Study II) were taken. Carriers compared with noncarriers of the ADRA2B deletion variant exhibited a significantly reduced bias toward habit memory after stress. fMRI results indicated that, whereas noncarriers of the ADRA2B deletion variant showed increased functional connectivity between amygdala and putamen after stress, this increase in connectivity was absent in carriers of the deletion variant, who instead showed overall enhanced connectivity between amygdala and entorhinal cortex. Our results indicate that a common genetic variation of the noradrenergic system modulates the impact of stress on the balance between cognitive and habitual memory systems, most likely via altered amygdala orchestration of these systems. SIGNIFICANCE STATEMENT Stressful events have a powerful effect on human learning and memory. Specifically, accumulating evidence suggests that stress favors more rigid dorsal striatum-dependent habit memory, at the expense of flexible hippocampus-dependent cognitive memory. Although this shift may have important implications for understanding mental disorders, such as post-traumatic stress disorder, little is known about the source of individual differences in the sensitivity for the stress-induced bias toward habit memory. We report here that a common genetic variation of the noradrenergic system, a known risk factor for post-traumatic stress disorder, modulates the stress-induced shift from cognitive to habit memory, most likely through altered crosstalk between the hippocampus and dorsal striatum with the amygdala, a key structure in emotional memory. Copyright © 2017 the authors 0270-6474/17/372149-12$15.00/0.

[Movement disorders is psychiatric diseases].

PubMed

Hidasi, Zoltan; Salacz, Pal; Csibri, Eva

2014-12-01

Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it, or can be the consequence of psychopharmacological therapy. Most common features include tic, stereotypy, compulsion, akathisia, dyskinesias, tremor, hypokinesia and disturbances of posture and gait. We discuss characteristics and clinical importance of these features. Movement disorders are frequently present in mood disorders, anxiety disorders, schizophrenia, catatonia, Tourette-disorder and psychogenic movement disorder, leading to differential-diagnostic and therapeutical difficulties in everyday practice. Movement disorders due to psychopharmacotherapy can be classified as early-onset, late-onset and tardive. Frequent psychiatric comorbidity is found in primary movement disorders, such as Parkinson's disease, Wilson's disease, Huntington's disease, diffuse Lewy-body disorder. Complex neuropsychiatric approach is effective concerning overlapping clinical features and spectrums of disorders in terms of movement disorders and psychiatric diseases.

Dementia with Lewy bodies: a comprehensive review for nurses.

PubMed

Ajon Gealogo, Gretchel

2013-12-01

Much of the current nursing literature on dementia focuses on Alzheimer disease (AD), the dementia subtype most commonly diagnosed in the older adults. There is a paucity of nursing literature on dementia with Lewy bodies (DLB), the second most common subtype of dementia, which is closely associated with Parkinson disease with dementia (PDD), considered the third most common dementia subtype. Both are aging-related disorders attributed to Lewy bodies, abnormal protein aggregates or "clumps" found to cause cumulative neurodegeneration over time. DLB is defined as dementia onset that is preceded by Parkinsonian symptoms for 1 year or less, whereas in PDD, 2 or more years of Parkinsonian symptoms precede dementia onset. Although basic science knowledge of DLB has increased exponentially, the lack of nursing research on DLB indicates that this knowledge excludes the nursing perspective and its implications for nursing practice. The purpose of this article is to provide nurses with a comprehensive overview of DLB as it compares with PDD and Alzheimer disease and to propose key nursing interventions for clinical practice.

Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

PubMed Central

Höglinger, Günter U.; Melhem, Nadine M.; Dickson, Dennis W.; Sleiman, Patrick M.A.; Wang, Li-San; Klei, Lambertus; Rademakers, Rosa; de Silva, Rohan; Litvan, Irene; Riley, David E.; van Swieten, John C.; Heutink, Peter; Wszolek, Zbigniew K.; Uitti, Ryan J.; Vandrovcova, Jana; Hurtig, Howard I.; Gross, Rachel G.; Maetzler, Walter; Goldwurm, Stefano; Tolosa, Eduardo; Borroni, Barbara; Pastor, Pau; Cantwell, Laura B.; Han, Mi Ryung; Dillman, Allissa; van der Brug, Marcel P.; Gibbs, J Raphael; Cookson, Mark R.; Hernandez, Dena G.; Singleton, Andrew B.; Farrer, Matthew J.; Yu, Chang-En; Golbe, Lawrence I.; Revesz, Tamas; Hardy, John; Lees, Andrew J.; Devlin, Bernie; Hakonarson, Hakon; Müller, Ulrich; Schellenberg, Gerard D.

2011-01-01

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common being Alzheimer’s disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 PSP cases and 3,247 controls (Stage 1) followed up by a second stage where 1,051 cases and 3,560 controls were genotyped for Stage 1 SNPs that yielded P ≤ 10−3. We found significant novel signals (P < 5 × 10−8) associated with PSP risk at STX6, EIF2AK3, and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response, and for a myelin structural component. PMID:21685912

Childhood adversities and first onset of psychiatric disorders in a national sample of adolescents

PubMed Central

McLaughlin, Katie A.; Green, Jennifer Greif; Gruber, Michael J.; Sampson, Nancy A.; Zaslavsky, Alan M.; Kessler, Ronald C.

2012-01-01

Context Although childhood adversities (CAs) are known to be highly co-occurring, most research examines their associations with mental disorders one at a time. Recent evidence from adult studies suggests, though, that the associations of multiple CAs with mental disorders are non-additive, arguing for the importance of multivariate analysis of multiple CAs. No attempt has yet been made to carry out a similar kind of analysis among children or adolescents. Objective To examine the multivariate associations of 12 CAs with first onset of mental disorders in a national sample of US adolescents. Design US national survey of adolescents (ages 13–17) assessing DSM-IV anxiety, mood, behavior, and substance disorders and CAs. The CAs include parental loss (death, divorce, other separations), maltreatment (physical, sexual, and emotional abuse, neglect), parental maladjustment (psychopathology, substance abuse, criminality, violence) and economic adversity. Setting Dual-frame household-school samples. Participants 6,483 adolescents-parent pairs. Main outcome measure Lifetime DSM-IV disorders assessed with the WHO Composite International Diagnostic Interview. Results 58.3% of adolescents reported at least one CA, among whom 59.7% reported multiple CAs. CAs reflecting maladaptive family functioning (MFF) were more strongly associated than other CAs with disorder onsets. The best-fitting model included terms for type and number of CAs and distinguished between MFF and Other CAs. CAs predicted behavior disorders most strongly and fear disorders least strongly. The joint associations of multiple CAs were sub-additive. The population-attributable risk proportions for disorder classes ranged from 15.7% for fear disorders to 40.7% for behavior disorders. CAs were associated with 28.2% of all onsets. Conclusions CAs are common, highly co-occurring, and strongly associated with onset of mental disorders among US adolescents. The sub-additive multivariate associations of CAs with disorder onsets have implications for targeting interventions to reduce exposure to CAs and to mitigate the harmful effects of CAs to improve population mental health. PMID:23117636

Workplace bullying and common mental disorders: a follow-up study.

PubMed

Lahelma, Eero; Lallukka, Tea; Laaksonen, Mikko; Saastamoinen, Peppiina; Rahkonen, Ossi

2012-06-01

Workplace bullying has been associated with mental health, but longitudinal studies confirming the association are lacking. This study examined the associations of workplace bullying with subsequent common mental disorders 5-7 years later, taking account of baseline common mental disorders and several covariates. Baseline questionnaire survey data were collected in 2000-2002 among municipal employees, aged 40-60 years (n=8960; 80% women; response rate 67%). Follow-up data were collected in 2007 (response rate 83%). The final data amounted to 6830 respondents. Workplace bullying was measured at baseline using an instructed question about being bullied currently, previously or never. Common mental disorders were measured at baseline and at follow-up using the 12-item version of the General Health Questionnaire. Those scoring 3-12 were classified as having common mental disorders. Covariates included bullying in childhood, occupational and employment position, work stress, obesity and limiting longstanding illness. Logistic regression analysis was used. After adjusting for age, being currently bullied at baseline was associated with common mental disorders at follow-up among women (OR 2.34, CI 1.81 to 3.02) and men (OR 3.64, CI 2.13 to 6.24). The association for the previously bullied was weaker. Adjusting for baseline common mental disorders, the association attenuated but remained. Adjusting for further covariates did not substantially alter the studied association. CONCLUSION The study confirms that workplace bullying is likely to contribute to subsequent common mental disorders. Measures against bullying are needed at workplaces to prevent mental disorders.

Changes in Neuropsychological Status during the Initial Phase of Abstinence in Alcohol Use Disorder: Neurocognitive Impairment and Implications for Clinical Care.

PubMed

Mulhauser, Kyler; Weinstock, Jeremiah; Ruppert, Phillip; Benware, Jeffrey

2018-05-12

Neuropsychological deficits are common in individuals with alcohol use disorder (AUD) and impact daily functioning and AUD treatment outcomes. Longitudinal studies demonstrate that extended abstinence improves neuropsychological functioning. The effects of short-term abstinence are less clear. This study examined changes in neuropsychological functioning after acute detoxification over a 10-day period at the beginning of residential AUD treatment. Notably, this study evaluated cognitive functioning according to diagnostic classifications for neurocognitive disorder according to DSM-5. Using a within-subjects design, neuropsychological functioning of participants (N = 28) undergoing a 14-day residential AUD treatment program was assessed at two time points over 10 days (i.e., treatment entry, prior to treatment discharge). Tests of immediate memory, visuospatial abilities, attention, language abilities, delayed memory, and executive functioning were administered. After completing acute detoxification, almost all participants (93%) were clinically impaired in at least one of the five cognitive domains at residential treatment entry, with one third of the sample impaired on ≥3 domains. Ten days later, 71% remained clinically impaired in at least one of five cognitive domains, with 29% of the sample impaired on ≥3 domains. Significant improvement over the 10-day period was observed for immediate memory, visuospatial abilities, and overall cognitive functioning. Clinical significance of these changes is also reported. Conclusions/Importance: The results from this study help to characterize cognitive functioning in terms of neurocognitive impairment. A brief period of abstinence begins to ameliorate neuropsychological deficits, but many individuals remain cognitively impaired throughout treatment. Implications for treatment are discussed.

Morphological Alterations in the Thalamus, Striatum, and Pallidum in Autism Spectrum Disorder

PubMed Central

Schuetze, Manuela; Park, Min Tae M; Cho, Ivy YK; MacMaster, Frank P; Chakravarty, M Mallar; Bray, Signe L

2016-01-01

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with cognitive, motor, and emotional symptoms. The thalamus and basal ganglia form circuits with the cortex supporting all three of these behavioral domains. Abnormalities in the structure of subcortical regions may suggest atypical development of these networks, with implications for understanding the neural basis of ASD symptoms. Findings from previous volumetric studies have been inconsistent. Here, using advanced surface-based methodology, we investigated localized differences in shape and surface area in the basal ganglia and thalamus in ASD, using T1-weighted anatomical images from the Autism Brain Imaging Data Exchange (373 male participants aged 7–35 years with ASD and 384 typically developing). We modeled effects of diagnosis, age, and their interaction on volume, shape, and surface area. In participants with ASD, we found expanded surface area in the right posterior thalamus corresponding to the pulvinar nucleus, and a more concave shape in the left mediodorsal nucleus. The shape of both caudal putamen and pallidum showed a relatively steeper increase in concavity with age in ASD. Within ASD participants, restricted, repetitive behaviors were positively associated with surface area in bilateral globus pallidus. We found no differences in overall volume, suggesting that surface-based approaches have greater sensitivity to detect localized differences in subcortical structure. This work adds to a growing body of literature implicating corticobasal ganglia-thalamic circuits in the pathophysiology of ASD. These circuits subserve a range of cognitive, emotional, and motor functions, and may have a broad role in the complex symptom profile in ASD. PMID:27125303

Yoga for generalized anxiety disorder: design of a randomized controlled clinical trial.

PubMed

Hofmann, Stefan G; Curtiss, Joshua; Khalsa, Sat Bir S; Hoge, Elizabeth; Rosenfield, David; Bui, Eric; Keshaviah, Aparna; Simon, Naomi

2015-09-01

Generalized anxiety disorder (GAD) is a common disorder associated with significant distress and interference. Although cognitive behavioral therapy (CBT) has been shown to be the most effective form of psychotherapy, few patients receive or have access to this intervention. Yoga therapy offers another promising, yet under-researched, intervention that is gaining increasing popularity in the general public, as an anxiety reduction intervention. The purpose of this innovative clinical trial protocol is to investigate the efficacy of a Kundalini Yoga intervention, relative to CBT and a control condition. Kundalini yoga and CBT are compared with each other in a noninferiority test and both treatments are compared to stress education training, an attention control intervention, in superiority tests. The sample will consist of 230 individuals with a primary DSM-5 diagnosis of GAD. This randomized controlled trial will compare yoga (N=95) to both CBT for GAD (N=95) and stress education (N=40), a commonly used control condition. All three treatments will be administered by two instructors in a group format over 12 weekly sessions with four to six patients per group. Groups will be randomized using permuted block randomization, which will be stratified by site. Treatment outcome will be evaluated bi-weekly and at 6month follow-up. Furthermore, potential mediators of treatment outcome will be investigated. Given the individual and economic burden associated with GAD, identifying accessible alternative behavioral treatments will have substantive public health implications. Copyright © 2015 Elsevier Inc. All rights reserved.

Yoga for Generalized Anxiety Disorder: Design of a Randomized Controlled Clinical Trial

PubMed Central

Hofmann, Stefan G.; Curtiss, Joshua; Khalsa, Sat Bir S.; Hoge, Elizabeth; Rosenfield, David; Bui, Eric; Keshaviah, Aparna; Simon, Naomi

2015-01-01

Generalized anxiety disorder (GAD) is a common disorder associated with significant distress and interference. Although cognitive behavioral therapy (CBT) has been shown to the most effective form of psychotherapy, few patients receive or have access to this intervention. Yoga therapy offers another promising, yet under-researched, intervention that is gaining increasing popularity in the general public, as an anxiety reduction intervention. The purpose of this innovative clinical trial protocol is to investigate the efficacy of a Kundalini Yoga intervention, relative to CBT and a control condition. Kundalini yoga and CBT are compared with each other in a noninferiority test and both treatments are compared to stress education training, an attention control intervention, in superiority tests. The sample will consist of 230 individuals with a primary DSM-5 diagnosis of GAD. This randomized controlled trial will compare yoga (N = 95) to both CBT for GAD (N=95) and stress education (N = 40), a commonly used control condition. All three treatments will be administered by two instructors in a group format over 12 weekly sessions with four to six patients per group. Groups will be randomized using permuted block randomization, which will be stratified by site. Treatment outcome will be evaluated bi-weekly and at 6 month follow-up. Furthermore, potential mediators of treatment outcome will be investigated. Given the individual and economic burden associated with GAD, identifying accessible alternative behavioral treatments will have substantive public health implications. PMID:26255236

Distinctive and common neural underpinnings of major depression, social anxiety, and their comorbidity.

PubMed

Hamilton, J Paul; Chen, Michael C; Waugh, Christian E; Joormann, Jutta; Gotlib, Ian H

2015-04-01

Assessing neural commonalities and differences among depression, anxiety and their comorbidity is critical in developing a more integrative clinical neuroscience and in evaluating currently debated categorical vs dimensional approaches to psychiatric classification. Therefore, in this study, we sought to identify patterns of anomalous neural responding to criticism and praise that are specific to and common among major depressive disorder (MDD), social anxiety disorder (SAD) and comorbid MDD-SAD. Adult females who met formal diagnostic criteria for MDD, SAD or MDD-SAD and psychiatrically healthy participants underwent functional magnetic resonance imaging as they listened to statements directing praise or criticism at them or at another person. MDD groups showed reduced responding to praise across a distributed cortical network, an effect potentially mediated by thalamic nuclei undergirding arousal-mediated attention. SAD groups showed heightened anterior insula and decreased default-mode network response to criticism. The MDD-SAD group uniquely showed reduced responding to praise in the dorsal anterior cingulate cortex. Finally, all groups with psychopathology showed heightened response to criticism in a region of the superior frontal gyrus implicated in attentional gating. The present results suggest novel neural models of anhedonia in MDD, vigilance-withdrawal behaviors in SAD, and poorer outcome in MDD-SAD. Importantly, in identifying unique and common neural substrates of MDD and SAD, these results support a formulation in which common neural components represent general risk factors for psychopathology that, due to factors that are present at illness onset, lead to distinct forms of psychopathology with unique neural signatures. © The Author (2014). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

Depression or Endocrine Disorder?: What Mental Health Counselors Need to Know about Hypothyroidism.

ERIC Educational Resources Information Center

Stanley, Paula Helen

1997-01-01

Describes hypothyroidism, an endocrine disorder characterized by symptoms that resemble those of depression. Discusses features of the disorder, types and grades of hypothyroidism, causes, valuative techniques for the disorder, and implications of hypothyroidism in counseling and in treating patients suffering from this disorder. (RJM)

Prevalence and early determinants of common mental disorders in the 1982 birth cohort, Pelotas, Southern Brazil

PubMed Central

Anselmi, Luciana; Barros, Fernando C; Minten, Gicele C; Gigante, Denise P; Horta, Bernardo L; Victora, Cesar G

2009-01-01

OBJECTIVE To estimate the prevalence of common mental disorders and assess its association with risk factors in a cohort of young adults. METHODS Cross-sectional study nested in a 1982 birth cohort study conducted in Pelotas, Southern Brazil. In 2004-5, 4,297 subjects were interviewed during home visits. Common mental disorders were assessed using the Self-Report Questionnaire. Risk factors included socioeconomic, demographic, perinatal, and environmental variables. The analysis was stratified by gender and crude and adjusted prevalence ratios were estimated by Poisson regression. RESULTS The overall prevalence of common mental disorders was 28.0%; 32.8% and 23.5% in women and men, respectively. Men and women who were poor in 2004-5, regardless of their poor status in 1982, had nearly 1.5-fold increased risk for common mental disorders (p≤0.001) when compared to those who have never been poor. Among women, being poor during childhood (p≤0.001) and black/mixed skin color (p=0.002) increased the risk for mental disorders. Low birth weight and duration of breastfeeding were not associated to the risk of these disorders. CONCLUSIONS Higher prevalence of common mental disorders among low-income groups and race-ethnic minorities suggests that social inequalities present at birth have a major impact on mental health, especially common mental disorders. PMID:19142342

Delusional versus nondelusional body dysmorphic disorder: recommendations for DSM-5

PubMed Central

Phillips, Katharine A.; Hart, Ashley S.; Simpson, Helen Blair; Stein, Dan J.

2016-01-01

The core feature of body dysmorphic disorder (BDD) is distressing or impairing preoccupation with nonexistent or slight defects in one’s physical appearance. BDD beliefs are characterized by varying degrees of insight, ranging from good (ie, recognition that one’s BDD beliefs are not true) through “absent insight/delusional” beliefs (ie, complete conviction that one’s BDD beliefs are true). The Diagnostic and Statistical Manual of Mental Disorders, 3rd ed., rev. (DSM-III-R) and The Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) classified BDD’s nondelusional form in the somatoform section of the manual and its delusional form in the psychosis section, as a type of delusional disorder, somatic type (although DSM-IV allowed double-coding of delusional BDD as both a psychotic disorder and BDD). However, little or no evidence on this issue was available when these editions were published. In this article, we review the classification of BDD’s delusional and nondelusional variants in earlier editions of DSM and the limitations of their approaches. We then review empirical evidence on this topic, which has become available since DSM-IV was developed. Available evidence indicates that across a range of validators, BDD’s delusional and nondelusional variants have many more similarities than differences, including response to pharmacotherapy. Based on these data, we propose that BDD’s delusional and nondelusional forms be classified as the same disorder and that BDD’s diagnostic criteria include an insight specifier that spans a range of insight, including absent insight/delusional BDD beliefs. We hope that this recommendation will improve care for patients with this common and often-severe disorder. This increased understanding of BDD may also have implications for other disorders that have an “absent insight/delusional” form. PMID:23659348

Annual research review: the nature and classification of reading disorders--a commentary on proposals for DSM-5.

PubMed

Snowling, Margaret J; Hulme, Charles

2012-05-01

This article reviews our understanding of reading disorders in children and relates it to current proposals for their classification in DSM-5. There are two different, commonly occurring, forms of reading disorder in children which arise from different underlying language difficulties. Dyslexia (as defined in DSM-5), or decoding difficulty, refers to children who have difficulty in mastering the relationships between the spelling patterns of words and their pronunciations. These children typically read aloud inaccurately and slowly, and experience additional problems with spelling. Dyslexia appears to arise principally from a weakness in phonological (speech sound) skills, and there is good evidence that it can be ameliorated by systematic phonic teaching combined with phonological awareness training. The other major form of reading difficulty is reading comprehension impairment. These children read aloud accurately and fluently, but have difficulty understanding what they have read. Reading comprehension impairment appears to arise from weaknesses in a range of oral language skills including poor vocabulary knowledge, weak grammatical skills and difficulties in oral language comprehension. We suggest that the omission of reading comprehension impairment from DSM-5 is a serious one that should be remedied. Both dyslexia and reading comprehension impairment are dimensional in nature, and show strong continuities with other disorders of language. We argue that recognizing the continuities between reading and language disorders has important implications for assessment and treatment, and we note that the high rates of comorbidity between reading disorders and other seemingly disparate disorders (including ADHD and motor disorders) raises important challenges for understanding these disorders. © 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and Adolescent Mental Health.

The presence, predictive utility, and clinical significance of body dysmorphic symptoms in women with eating disorders

PubMed Central

2013-01-01

Background Both eating disorders (EDs) and body dysmorphic disorder (BDD) are disorders of body image. This study aimed to assess the presence, predictive utility, and impact of clinical features commonly associated with BDD in women with EDs. Methods Participants recruited from two non-clinical cohorts of women, symptomatic and asymptomatic of EDs, completed a survey on ED (EDE-Q) and BDD (BDDE-SR) psychopathology, psychological distress (K-10), and quality of life (SF-12). Results A strong correlation was observed between the total BDDE-SR and the global EDE-Q scores (r = 0.79, p < 0.001). Multivariate analyses demonstrated that participants with probable EDs (n = 61) and BDD (n = 23) scored higher on 28 of the 30 BDDE-SR items compared to healthy controls (n = 173; all p < 0.05), indicating greater severity of BDD symptoms. BDD participants also scored higher than ED participants on 15 of the 30 BDDE-SR items (all p < 0.05). The remaining 15 items that ED and BDD participants scored similarly on (all p > 0.05) measured appearance checking, reassurance-seeking, camouflaging, comparison-making, and social avoidance. In addition to these behaviors, inspection of sensitivity (Se) and specificity (Sp) revealed that BDDE-SR items measuring preoccupation and dissatisfaction with appearance were most predictive of ED cases (Se and Sp > 0.60). Higher total BDDE-SR scores were associated with greater distress on the K-10 and poorer quality of life on the SF-12 (all p < 0.01). Conclusions Clinical features central to the model of BDD are common in, predictive of, and associated with impairment in women with EDs. Practice implications are that these features be included in the assessment and treatment of EDs. PMID:24999401

The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation

PubMed Central

Jurnak, Frances

2015-01-01

Autism spectrum disorder (ASD) is characterized by social and communication impairments as well as by restricted, repetitive patterns of behavior and interests. Genomic studies have not revealed dominant genetic errors common to all forms of ASD. So ASD is assumed to be a complex disorder due to mutations in hundreds of common variants. Other theories argue that spontaneous DNA mutations and/or environmental factors contribute to as much as 50% of ASD. In reviewing potential genetic linkages between autism and alcoholism, it became apparent that all theories of ASD are consistent with aldehyde toxicity, in which endogenous and exogenous aldehydes accumulate as a consequence of mutations in key enzymes. Aldehyde toxicity is characterized by cell-localized, micronutrient deficiencies in sulfur-containing antioxidants, thiamine (B1), pyridoxine (B6), folate, Zn2+, possibly Mg2+, and retinoic acid, causing oxidative stress and a cascade of metabolic disturbances. Aldehydes also react with selective cytosolic and membrane proteins in the cell of origin; then some types migrate to damage neighboring cells. Reactive aldehydes also form adducts with DNA, selectively mutating bases and inducing strand breakage. This article reviews the relevant genomic, biochemical, and nutritional literature, which supports the central hypothesis that most ASD symptoms are consistent with symptoms of aldehyde toxicity. The hypothesis represents a paradigm shift in thinking and has profound implications for clinical detection, treatment, and even prevention of ASD. Insight is offered as to which neurologically afflicted children might successfully be treated with micronutrients and which children are unlikely to be helped. The aldehyde toxicity hypothesis likely applies to other neurological disorders. PMID:27330305

Neurovisceral phenotypes in the expression of psychiatric symptoms

PubMed Central

Eccles, Jessica A.; Owens, Andrew P.; Mathias, Christopher J.; Umeda, Satoshi; Critchley, Hugo D.

2015-01-01

This review explores the proposal that vulnerability to psychological symptoms, particularly anxiety, originates in constitutional differences in the control of bodily state, exemplified by a set of conditions that include Joint Hypermobility, Postural Tachycardia Syndrome and Vasovagal Syncope. Research is revealing how brain-body mechanisms underlie individual differences in psychophysiological reactivity that can be important for predicting, stratifying and treating individuals with anxiety disorders and related conditions. One common constitutional difference is Joint Hypermobility, in which there is an increased range of joint movement as a result of a variant of collagen. Joint hypermobility is over-represented in people with anxiety, mood and neurodevelopmental disorders. It is also linked to stress-sensitive medical conditions such as irritable bowel syndrome, chronic fatigue syndrome and fibromyalgia. Structural differences in “emotional” brain regions are reported in hypermobile individuals, and many people with joint hypermobility manifest autonomic abnormalities, typically Postural Tachycardia Syndrome. Enhanced heart rate reactivity during postural change and as recently recognized factors causing vasodilatation (as noted post-prandially, post-exertion and with heat) is characteristic of Postural Tachycardia Syndrome, and there is a phenomenological overlap with anxiety disorders, which may be partially accounted for by exaggerated neural reactivity within ventromedial prefrontal cortex. People who experience Vasovagal Syncope, a heritable tendency to fainting induced by emotional challenges (and needle/blood phobia), are also more vulnerable to anxiety disorders. Neuroimaging implicates brainstem differences in vulnerability to faints, yet the structural integrity of the caudate nucleus appears important for the control of fainting frequency in relation to parasympathetic tone and anxiety. Together there is clinical and neuroanatomical evidence to show that common constitutional differences affecting autonomic responsivity are linked to psychiatric symptoms, notably anxiety. PMID:25713509

Current and novel insights into the neurophysiology of migraine and its implications for therapeutics.

PubMed

Akerman, Simon; Romero-Reyes, Marcela; Holland, Philip R

2017-04-01

Migraine headache and its associated symptoms have plagued humans for two millennia. It is manifest throughout the world, and affects more than 1/6 of the global population. It is the most common brain disorder, and is characterized by moderate to severe unilateral headache that is accompanied by vomiting, nausea, photophobia, phonophobia, and other hypersensitive symptoms of the senses. While there is still a clear lack of understanding of its neurophysiology, it is beginning to be understood, and it seems to suggest migraine is a disorder of brain sensory processing, characterized by a generalized neuronal hyperexcitability. The complex symptomatology of migraine indicates that multiple neuronal systems are involved, including brainstem and diencephalic systems, which function abnormally, resulting in premonitory symptoms, ultimately evolving to affect the dural trigeminovascular system, and the pain phase of migraine. The migraineur also seems to be particularly sensitive to fluctuations in homeostasis, such as sleep, feeding and stress, reflecting the abnormality of functioning in these brainstem and diencephalic systems. Implications for therapeutic development have grown out of our understanding of migraine neurophysiology, leading to major drug classes, such as triptans, calcitonin gene-related peptide receptor antagonists, and 5-HT 1F receptor agonists, as well as neuromodulatory approaches, with the promise of more to come. The present review will discuss the current understanding of the neurophysiology of migraine, particularly migraine headache, and novel insights into the complex neural networks responsible for associated neurological symptoms, and how interaction of these networks with migraine pain pathways has implications for the development of novel therapeutics. Copyright © 2016 Elsevier Inc. All rights reserved.

Implications of Psychiatric Comorbidity Among Combat Veterans

DTIC Science & Technology

2013-10-01

disorders , psychotic disorders , anxiety disorders , personality disorders , and "other" mental disorders (including, but not limited to, eating and sleep...of diagnoses spread across major diagnostic catego- ries. For example, participants with both an anxiety and personality disorder diagnosis were...other disorders (« = 751, 30,3%), and mood and personality disorders (n = 687, 27,7%). Pearson chi-square tests were used to compare the observed

Content specificity of attention bias to threat in anxiety disorders: a meta-analysis.

PubMed

Pergamin-Hight, Lee; Naim, Reut; Bakermans-Kranenburg, Marian J; van IJzendoorn, Marinus H; Bar-Haim, Yair

2015-02-01

Despite the established evidence for threat-related attention bias in anxiety, the mechanisms underlying this bias remain unclear. One important unresolved question is whether disorder-congruent threats capture attention to a greater extent than do more general or disorder-incongruent threat stimuli. Evidence for attention bias specificity in anxiety would implicate involvement of previous learning and memory processes in threat-related attention bias, whereas lack of content specificity would point to perturbations in more generic attention processes. Enhanced clarity of mechanism could have clinical implications for the stimuli types used in Attention Bias Modification Treatments (ABMT). Content specificity of threat-related attention bias in anxiety and potential moderators of this effect were investigated. A systematic search identified 37 samples from 29 articles (N=866). Relevant data were extracted based on specific coding rules, and Cohen's d effect size was used to estimate bias specificity effects. The results indicate greater attention bias toward disorder-congruent relative to disorder-incongruent threat stimuli (d=0.28, p<0.0001). This effect was not moderated by age, type of anxiety disorder, visual attention tasks, or type of disorder-incongruent stimuli. No evidence of publication bias was observed. Implications for threat bias in anxiety and ABMT are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

The neurobiology of dispositional negativity and attentional biases to threat: Implications for understanding anxiety disorders in adults and youth

PubMed Central

Shackman, Alexander J.; Stockbridge, Melissa D.; Tillman, Rachael M.; Kaplan, Claire M.; Tromp, Do P. M.; Fox, Andrew S.; Gamer, Matthias

2016-01-01

When extreme, anxiety can become debilitating. Anxiety disorders, which often first emerge early in development, are common and challenging to treat, yet the neurocognitive mechanisms that confer increased risk have only recently begun to come into focus. Here we review recent work highlighting the importance of neural circuits centered on the amygdala. We begin by describing dispositional negativity, a core dimension of childhood temperament and adult personality and an important risk factor for the development of anxiety disorders and other kinds of stress-sensitive psychopathology. Converging lines of epidemiological, neurophysiological, and mechanistic evidence indicate that the amygdala supports stable individual differences in dispositional negativity across the lifespan and contributes to the etiology of anxiety disorders in adults and youth. Hyper-vigilance and attentional biases to threat are prominent features of the anxious phenotype and there is growing evidence that they contribute to the development of psychopathology. Anatomical studies show that the amygdala is a hub, poised to govern attention to threat via projections to sensory cortex and ascending neuromodulatory systems. Imaging and lesion studies demonstrate that the amygdala plays a key role in selecting and prioritizing the processing of threat-related cues. Collectively, these observations provide a neurobiologically-grounded framework for understanding the development and maintenance of anxiety disorders in adults and youth and set the stage for developing improved intervention strategies. PMID:27917284

[Association between the characteristics of coordination development disorder and symptoms of attention deficit disorder with hyperactivity in children in the city of Manizales].

PubMed

Salamanca Duque, Luisa Matilde; Naranjo Aristizábal, María Mercedes; Castro Castro, Ángel Laban; Calle Jaramillo, Guillermo Andrés

2016-01-01

Developmental coordination disorder (DCD) in childhood is an important public health problem, which has important implications for different spheres of development: motor, cognitive, psychosocial and emotional. Therefore, the presence of comorbidity is common, along with other disorders in child development. This article presents a study that determines the association between DCD characteristics with attention deficit and hyperactivity disorder (ADHD) symptoms. To determine the association between DCD characteristics and ADHD symptoms in the city of Manizales, Colombia. Cross-sectional, descriptive and associative study, in a sample of 140 children aged 6-12, randomised in public and private institutions. A structured interview was conducted, along with the questionnaires MINIKID and Cuestionario para Trastorno del Desarrollo de la Coordinación (CTDC). A descriptive univariate analysis was performed on the the sociodemographic characteristics, as well as association tests with χ(2) test, and dependence level with φ coefficient. A statistically significant association was found between the CTDC characteristics with ADHD symptoms (φ=.452; P=.001). An association was found in the studied population between the CTDC characteristics and ADHD symptoms, indicating that children with difficulties in motor performance may also have attention difficulties and hyperactivity. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Functional significance of rare neuroligin 1 variants found in autism

PubMed Central

Nakanishi, Moe; Nomura, Jun; Ji, Xiao; Tamada, Kota; Arai, Takashi; Takahashi, Eiki; Bućan, Maja

2017-01-01

Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD. In humans, NLGNs consist of five family members, and neuroligin1 (NLGN1) is a major component forming a complex on excitatory glutamatergic synapses. However, the significance of NLGN1 in neuropsychiatric disorders remains unknown. Here, we systematically examine five missense variants of NLGN1 that were detected in ASD patients, and show molecular and cellular alterations caused by these variants. We show that a novel NLGN1 Pro89Leu (P89L) missense variant found in two ASD siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD. These results, for the first time, implicate rare variants in NLGN1 as functionally significant and support that the NLGN synaptic pathway is of importance in the etiology of neuropsychiatric disorders. PMID:28841651

Functional significance of rare neuroligin 1 variants found in autism.

PubMed

Nakanishi, Moe; Nomura, Jun; Ji, Xiao; Tamada, Kota; Arai, Takashi; Takahashi, Eiki; Bućan, Maja; Takumi, Toru

2017-08-01

Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD. In humans, NLGNs consist of five family members, and neuroligin1 (NLGN1) is a major component forming a complex on excitatory glutamatergic synapses. However, the significance of NLGN1 in neuropsychiatric disorders remains unknown. Here, we systematically examine five missense variants of NLGN1 that were detected in ASD patients, and show molecular and cellular alterations caused by these variants. We show that a novel NLGN1 Pro89Leu (P89L) missense variant found in two ASD siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD. These results, for the first time, implicate rare variants in NLGN1 as functionally significant and support that the NLGN synaptic pathway is of importance in the etiology of neuropsychiatric disorders.

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.

Manifestations of Parkinson disease differ in association with REM sleep behavior disorder.

PubMed

Postuma, Ronald B; Gagnon, Jean-Francois; Vendette, Melanie; Charland, Katia; Montplaisir, Jacques

2008-09-15

REM sleep behavior disorder (RBD) is commonly associated with Parkinson disease (PD), but it is unclear whether this association has implications for disease manifestations. We evaluated 36 PD patients for the presence of RBD by polysomnography. Patients underwent an extensive evaluation by a movement disorders specialist blinded to polysomnography results. Severity of motor manifestations, autonomic, visual, psychiatric, and olfactory dysfunctions and quality of life (QOL) were assessed, and compared using regression analysis that adjusted for disease duration, age and sex. Severity of motor manifestations did not differ between groups. However, the presence of RBD in PD was strongly associated with symptoms and signs of orthostatic hypotension (systolic blood pressure lying to standing = -25.7 +/- 13.0 mmHg vs. -4.9 +/-14.1, P < 0.001); and orthostatic symptom prevalence = 71% vs. 27%, P = 0.0076). There was no association between RBD and other autonomic symptoms. Color vision was worse in patients with RBD, but olfactory dysfunction did not differ between groups. The prevalence of depression, hallucinations, paranoia, and impulse disorders did not differ between groups. Emotional functioning and general health QOL measures were lower in those with RBD, but there were no differences between groups on disease-specific indices or on measures of overall physical QOL. These findings suggest that the pathophysiology of RBD and nonmotor manifestations of PD, particularly autonomic dysfunction, are linked. (c) 2007 Movement Disorder Society.

Disciplining the feminine: the reproduction of gender contradictions in the mental health care of women with eating disorders.

PubMed

Moulding, Nicole

2006-02-01

This paper provides insights into the way gendered assumptions operate within health care interventions for women with eating disorders. A multidisciplinary sample of Australian health care workers were interviewed about their approaches to treatment, and discourse analysis was used to uncover the discursive dynamics and power relations characterising their accounts of intervention. The paper demonstrates a contradictory positioning of anorexic patients in relation to autonomy and control within the two common psychiatric interventions of bed rest intervention and psychotherapy. The paper argues that this is based on gendered assumptions about selfhood and femininity in eating disorders that are reproduced in the therapeutic relationship through the operation of a gendered parent-child dynamic, with the health care worker as father or mother, and the anorexic patient as daughter. One of the main effects of this is to re-inscribe rather than challenge the discursive 'double bind' of femininity that has been widely implicated by post-structural feminists in producing eating disorders in the first place. The paper also considers the widely acknowledged problem of resistance to treatment in anorexia as a function of controlling treatments, and discusses psychiatrists' perspectives on addressing this dilemma. Finally, the paper examines the potential of feminist-informed understandings of eating disorders for overcoming the gendered dilemmas inherent within the dominant psycho-medical treatment paradigm.

Definitions and factors associated with subthreshold depressive conditions: a systematic review

PubMed Central

2012-01-01

Background Subthreshold depressive disorders (minor and subthrehold depression) have been defined in a wide range of forms, varying on the number of symptoms and duration required. Disability associated with these conditions has also been reported. Our aim was to review the different definitions and to determine factors associated with these conditions in order to clarify the nosological implications of these disorders. Methods A Medline search was conducted of the published literature between January 2001 and September 2011. Bibliographies of the retrieved papers were also analysed. Results There is a wide heterogeneity in the definition and diagnostic criteria of minor and subthreshold depression. Minor depression was defined according to DSM-IV criteria. Regarding subthreshold depression, also called subclinical depression or subsyndromal symptomatic depression, between 2 and 5 depressive symptoms were required for the diagnosis, and a minimum duration of 2 weeks. Significant impairment associated with subthreshold depressive conditions, as well as comorbidity with other mental disorders, has been described. Conclusions Depression as a disorder is better explained as a spectrum rather than as a collection of discrete categories. Minor and subthreshold depression are common conditions and patients falling below the diagnostic threshold experience significant difficulties in functioning and a negative impact on their quality of life. Current diagnostic systems need to reexamine the thresholds for depressive disorders and distinguish them from ordinary feelings of sadness. PMID:23110575

Stress Responsivity and the Structure of Common Mental Disorders: Transdiagnostic Internalizing and Externalizing Dimensions are Associated with Contrasting Stress Appraisal Biases

PubMed Central

Conway, Christopher C.; Starr, Lisa R.; Espejo, Emmanuel P.; Brennan, Patricia A.; Hammen, Constance

2016-01-01

Biased stress appraisals critically relate to the origins and temporal course of many—perhaps most—forms of psychopathology. We hypothesized that aberrant stress appraisals are linked directly to latent internalizing and externalizing traits that, in turn, predispose to multiple disorders. A high-risk community sample of 815 adolescents underwent semistructured interviews to assess clinical disorders and naturalistic stressors at ages 15 and 20. Participants and blind rating teams separately evaluated the threat associated with acute stressors occurring in the past year, and an appraisal bias index (i.e., discrepancy between subjective and team-rated threat) was generated. A two-factor (Internalizing and Externalizing) latent variable model provided an excellent fit to the diagnostic correlations. After adjusting for the covariation between the factors, adolescents’ threat overestimation prospectively predicted higher standing on Internalizing, whereas threat underestimation prospectively predicted elevations on Externalizing. Cross-sectional analyses replicated this pattern in early adulthood. Appraisals were not related to the residual portions of any diagnosis in the latent variable model, suggesting that the transdiagnostic dimensions mediated the connections between stress appraisal bias and disorder entities. We discuss implications for enhancing the efficiency of emerging research on the stress response and speculate how these findings, if replicated, might guide refinements to psychological treatments for stress-linked disorders. PMID:27819469

Differentiating Speech Sound Disorders from Phonological Dialect Differences: Implications for Assessment and Intervention

ERIC Educational Resources Information Center

Velleman, Shelley L.; Pearson, Barbara Zurer

2010-01-01

B. Z. Pearson, S. L. Velleman, T. J. Bryant, and T. Charko (2009) demonstrated phonological differences in typically developing children learning African American English as their first dialect vs. General American English only. Extending this research to children with speech sound disorders (SSD) has key implications for intervention. A total of…

Novel glutamatergic drugs for the treatment of mood disorders

PubMed Central

Lapidus, Kyle AB; Soleimani, Laili; Murrough, James W

2013-01-01

Mood disorders are common and debilitating, resulting in a significant public health burden. Current treatments are only partly effective and patients who have failed to respond to trials of existing antidepressant agents (eg, those who suffer from treatment-resistant depression [TRD]) require innovative therapeutics with novel mechanisms of action. Although neuroscience research has elucidated important aspects of the basic mechanisms of antidepressant action, most antidepressant drugs target monoaminergic mechanisms identified decades ago. Glutamate, the major excitatory neurotransmitter in the central nervous system, and glutamatergic dysfunction has been implicated in mood disorders. These data provide a rationale for the pursuit of glutamatergic agents as novel therapeutic agents. Here, we review preclinical and clinical investigations of glutamatergic agents in mood disorders with a focus on depression. We begin with discussion of evidence for the rapid antidepressant effects of ketamine, followed by studies of the antidepressant efficacy of the currently marketed drugs riluzole and lamotrigine. Promising novel agents currently in development, including N-methyl-D-aspartate (NMDA) receptor modulators, 2-amino-3-(3-hydroxy-5-methyl-isoxazol-4-yl) propanoic acid (AMPA) receptor modulators, and drugs with activity at the metabotropic glutamate (mGlu) receptors are then reviewed. Taken together, both preclinical and clinical evidence exists to support the pursuit of small molecule modulators of the glutamate system as novel therapeutic agents in mood disorders. It is hoped that by targeting neural systems outside of the monoamine system, more effective and perhaps faster acting therapeutics can be developed for patients suffering from these disabling disorders. PMID:23976856

Childhood obesity case statement.

PubMed

Esposito, Paul W; Caskey, Paul; Heaton, Lisa E; Otsuka, Norman

2013-04-01

The goal of this publication is to raise awareness of the impact of childhood obesity on the musculoskeletal health of children and its potential long-term implications. Relevant articles dealing with musculoskeletal disorders either caused by or worsened by childhood obesity were reviewed through a Pub Med search. Efforts to recognize and combat the childhood obesity epidemic were also identified through Internet search engines. This case statement was then reviewed by the members of the pediatric specialty group of the US Bone and Joint Initiative, which represents an extensive number of organizations dealing with musculoskeletal health. Multiple musculoskeletal disorders are clearly caused by or worsened by childhood obesity. The review of the literature clearly demonstrates the increased frequency and severity of many childhood musculoskeletal disorders. Concerns about the long-term implications of these childhood onset disorders such as pain and degenerative changes into adulthood are clearly recognized by all the member organizations of the US Bone and Joint Initiative. It is imperative to recognize the long-term implications of musculoskeletal disorders caused by or worsened by childhood obesity. It is also important to recognize that the ability to exercise comfortably is a key factor to developing a healthy lifestyle and maintaining a healthy body weight. Efforts to develop reasonable and acceptable programs to increase physical activity by all facets of society should be supported. Further research into the long-term implications of childhood musculoskeletal disorders related to childhood obesity is necessary. Copyright © 2013 Elsevier Inc. All rights reserved.