CBCL Pediatric Bipolar Disorder Profile and ADHD: Comorbidity and Quantitative Trait Loci Analysis

ERIC Educational Resources Information Center

McGough, James J.; Loo, Sandra K.; McCracken, James T.; Dang, Jeffery; Clark, Shaunna; Nelson, Stanley F.; Smalley, Susan L.

2008-01-01

The pediatric bipolar disorder profile of the Child Behavior checklist is used to differentiate patterns of comorbidity and to search for quantitative trait loci in multiple affected ADHD sibling pairs. The CBCL-PBD profiling identified 8 percent of individuals with severe psychopathology and increased rates of oppositional defiant, conduct and…

The Heart of the Matter: Cardiac Manifestations of Endocrine Disease

PubMed Central

Binu, Aditya John; Cherian, Kripa Elizabeth; Kapoor, Nitin; Chacko, Sujith Thomas; George, Oommen; Paul, Thomas Vizhalil

2017-01-01

Endocrine disorders manifest as a disturbance in the milieu of multiple organ systems. The cardiovascular system may be directly affected or alter its function to maintain the state of homeostasis. In this article, we aim to review the pathophysiology, diagnosis, clinical features and management of cardiac manifestations of various endocrine disorders. PMID:29285459

Childhood Multiple Sclerosis: A Review

ERIC Educational Resources Information Center

Waldman, Amy; O'Connor, Erin; Tennekoon, Gihan

2006-01-01

Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when…

The Unique Effects of Parental Alcohol and Affective Disorders, Parenting, and Parental Negative Affect on Adolescent Maladjustment

ERIC Educational Resources Information Center

Haller, Moira; Chassin, Laurie

2011-01-01

Using a high-risk community sample, multiple regression analyses were conducted separately for mothers (n = 416) and fathers (n = 346) to test the unique, prospective influence of parental negative affect on adolescent maladjustment (internalizing symptoms, externalizing symptoms, and negative emotionality) 2 years later over and above parental…

Sleep and Psychiatric Disorders in Persons With Mild Traumatic Brain Injury.

PubMed

Mollayeva, Tatyana; D'Souza, Andrea; Mollayeva, Shirin

2017-08-01

Mild traumatic brain injury (mTBI) frequently challenges the integrity of sleep function by affecting multiple brain areas implicated in controlling the switch between wakefulness and sleep and those involved in circadian and homeostatic processes; the malfunction of each causes a variety of disorders. In this review, we discuss recent data on the dynamics between disorders of sleep and mental/psychiatric disorders in persons with mTBI. This analysis sets the stage for understanding how a variety of physiological, emotional and environmental influences affect sleep and mental activities after injury to the brain. Consideration of the intricate links between sleep and mental functions in future research can increase understanding on the underlying mechanisms of sleep-related and psychiatric comorbidity in mTBI.

Is Depression Simply a Nonspecific Response to Brain Injury?

PubMed Central

Strakowski, Stephen M.; Adler, Caleb M.; DelBello, Melissa P.

2013-01-01

Depressive disorders are among the most common ailments affecting humankind and some of the world’s leading causes of medical disability. Despite being common, disabling and a major public health problem, the etiology of depression is unknown. Indeed, investigators have suggested that the causes of depression are multiple and multi-factorial. With these considerations in mind, in this article we examine the hypothesis that our inability to identify the causes of depressive disorders is because depression is a nonspecific epiphenomenon of brain injury or insult arising through multiple pathways. PMID:23943470

76 FR 66006 - Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems

Federal Register 2010, 2011, 2012, 2013, 2014

2011-10-25

... definitive test that documents your disorder (for example, genetic analysis or evidence of biochemical... testing, and We will not accept the fluorescence in situ hybridization (FISH) test--a screening test--and... results even if the person did have a test. Because we do not have definitive test results, we would...

Borderline Personality Disorder

MedlinePlus

... It can negatively affect intimate relationships, jobs, school, social activities and self-image, resulting in: Repeated job changes or losses Not completing an education Multiple legal issues, such as jail time Conflict-filled relationships, marital ...

Immunologic Endocrine Disorders

PubMed Central

Michels, Aaron W.; Eisenbarth, George S.

2010-01-01

Autoimmunity affects multiple glands in the endocrine system. Animal models and human studies highlight the importance of alleles in HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Disorders such as type 1A diabetes, Grave's disease, Hashimoto's thyroiditis, Addison's disease, and many others result from autoimmune mediated tissue destruction. Each of these disorders can be divided into stages beginning with genetic susceptibility, environmental triggers, active autoimmunity, and finally metabolic derangements with overt symptoms of disease. With an increased understanding of the immunogenetics and immunopathogenesis of endocrine autoimmune disorders, immunotherapies are becoming prevalent, especially in type 1A diabetes. Immunotherapies are being used more in multiple subspecialty fields to halt disease progression. While therapies for autoimmune disorders stop the progress of an immune response, immunomodulatory therapies for cancer and chronic infections can also provoke an unwanted immune response. As a result, there are now iatrogenic autoimmune disorders arising from the treatment of chronic viral infections and malignancies. PMID:20176260

Prolonged delirium misdiagnosed as a mood disorder.

PubMed

Cao, Fei; Salem, Haitham; Nagpal, Caesa; Teixeira, Antonio L

2017-01-01

Delirium can be conceptualized as an acute decline in cognitive function that typically lasts from hours to a few days. Prolonged delirium can also affect patients with multiple predisposing and/or precipitating factors. In clinical practice, prolonged delirium is often unrecognized, and can be misdiagnosed as other psychiatric disorders. We describe a case of a 59-year-old male presenting with behavioral and cognitive symptoms that was first misdiagnosed as a mood disorder in a general hospital setting. After prolonged delirium due to multiple factors was confirmed, the patient was treated accordingly with symptomatic management. He evolved with progressive improvement of his clinical status. Early diagnosis and management of prolonged delirium are important to improve patient prognosis and avoid iatrogenic measures.

The Role of Affect in the Maintenance of Anorexia Nervosa: Evidence from a Naturalistic Assessment of Momentary Behaviors and Emotion

PubMed Central

Engel, Scott G.; Wonderlich, Stephen A.; Crosby, Ross D.; Mitchell, James E.; Crow, Scott; Peterson, Carol B.; Le Grange, Daniel; Simonich, Heather K.; Cao, Li; Lavender, Jason M.; Gordon, Kathryn H.

2014-01-01

The current study examines the relationship of affect and eating disorder behavior in anorexia nervosa (AN) using ecological momentary assessment. Participants were 118 adult females recruited at three sites from eating disorder treatment centers and community advertisements. All participants met full DSM-IV criteria or sub-threshold criteria for AN. Participants were provided handheld computers and asked to report positive affect, negative affect, loss of control (LOC) eating, purging, exercise, drinking fluids to curb appetite, and weighing one's self multiple times per day as well as dietary restriction once daily over a two-week interval. Mixed-effects models were used to examine the extent to which affective states predict dietary restriction. Additionally, we used two analytic approaches to compare affect prior to and after other eating disorder behaviors. We found that higher daily ratings of negative affect were associated with a greater likelihood of dietary restriction on subsequent days. When examining the single rating immediately before and after behaviors, we found that negative affect increased significantly following LOC eating, purging, the combination of LOC and eating/purging, and weighing of one's self. Using this same analytic approach we also found negative affect to decrease significantly following the consumption of fluids to curb appetite and exercise. When examining the covariation of AN behaviors and negative affect assessed multiple times in the hours and minutes before the behaviors, we found negative affect significantly increased prior to LOC eating, purging, the combination of LOC eating/and purging, and weighing behavior. Negative affect also significantly decreased following the occurrence of these behaviors. These findings are consistent with the idea that that negative affect is potentially a critical maintenance mechanism of some AN symptoms, but that the analytic approach used to examine affect and behavior may have significant implications on the interpretation of findings. PMID:24016011

The Unique Effects of Parental Alcohol and Affective Disorders, Parenting, and Parental Negative Affect on Adolescent Maladjustment

PubMed Central

Haller, Moira; Chassin, Laurie

2010-01-01

Using a high-risk community sample, multiple regression analyses were conducted separately for mothers (N=416) and fathers (N= 346) to test the unique, prospective influence of parental negative affect on adolescent maladjustment (internalizing symptoms, externalizing symptoms, and negative emotionality) two years later over and above parental alcohol and affective disorders, major disruption in the family environment, and parenting. Adolescent sex was tested as a moderator. Results indicated that maternal (but not paternal) negative affect had a unique, prospective effect on adolescent internalizing symptoms in girls and negative emotionality in both sexes, but did not predict adolescent externalizing symptoms. Findings demonstrate that mothers’ negative affect may have unique effects on adolescent adjustment, separate from the effects of clinically significant parental psychopathology, parenting, and disruption in the family environment. PMID:23761947

The Unique Effects of Parental Alcohol and Affective Disorders, Parenting, and Parental Negative Affect on Adolescent Maladjustment.

PubMed

Haller, Moira; Chassin, Laurie

2011-07-01

Using a high-risk community sample, multiple regression analyses were conducted separately for mothers ( N =416) and fathers ( N = 346) to test the unique, prospective influence of parental negative affect on adolescent maladjustment (internalizing symptoms, externalizing symptoms, and negative emotionality) two years later over and above parental alcohol and affective disorders, major disruption in the family environment, and parenting. Adolescent sex was tested as a moderator. Results indicated that maternal (but not paternal) negative affect had a unique, prospective effect on adolescent internalizing symptoms in girls and negative emotionality in both sexes, but did not predict adolescent externalizing symptoms. Findings demonstrate that mothers' negative affect may have unique effects on adolescent adjustment, separate from the effects of clinically significant parental psychopathology, parenting, and disruption in the family environment.

Racial/ethnic variations in substance-related disorders among adolescents in the United States

PubMed Central

Wu, Li-Tzy; Woody, George E.; Yang, Chongming; Pan, Jeng-Jong; Blazer, Dan G.

2012-01-01

Context While young racial/ethnic groups are the fastest growing population in the United States, data on alcohol and drug use disorders among adolescents of various racial/ethnic backgrounds are lacking. Objective To examine the magnitude of past-year Diagnostic and Statistical Manual of Mental Disorders-IV substance use disorders (alcohol, marijuana, cocaine, inhalants, hallucinogens, heroin, analgesic opioids, stimulants, sedatives, tranquilizers) among whites, Hispanics, African Americans, Native Americans, Asians/Pacific Islanders, and multiple-race adolescents. Design 2005–2008 National Surveys of Drug Use and Health. Setting Non institutionalized, household adolescents aged 12–17 years. Main Measures Substance use disorders were assessed by standardized survey questions administered by the audio computer-assisted self-interviewing method. Results Of all adolescents aged 12–17 (N=72,561), 37% used alcohol or drugs in the past year; 8% met criteria for an alcohol or drug use disorder, with Native Americans having the highest prevalence of use (48%) and disorder (15%). Analgesic opioids were the second most commonly used illegal drugs in all racial/ethnic groups, following marijuana; opioid use was comparatively prevalent among Native Americans (10%) and multiple-race adolescents (9%). Among past-year alcohol or drug users (n=27,705), Native Americans (32%), multiple-race adolescents (25%), whites (23%), and Hispanics (21%) had the highest rates of alcohol or drug use disorders. Marijuana was used by adolescents more frequently than alcohol or other drugs, and 26% of marijuana users met criteria for marijuana abuse/dependence. Controlling for adolescents’ age, socioeconomic variables, population density of residence, self-rated health, and survey year, adjusted analyses of adolescent substance users indicated elevated odds of having alcohol and drug use disorders among Native Americans, multiple-race adolescents, whites, and Hispanics compared with African Americans; the latter group did not differ from Asians/Pacific Islanders. Conclusions Substance use is widespread among Native-American, multiple-race, white, and Hispanic adolescents. These groups also are disproportionately affected by alcohol and drug use disorders. PMID:22065533

Familial pseudoxanthoma elasticum associated with multiple comedones.

PubMed

Maarouf, Melody; Sharon, Victoria R; Sivamani, Raja K; Prakash, Neha; Bipin, T H; Davis, Tracy; Shi, Vivian Y

2017-09-15

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck. To our knowledge, this is the first report of numerous open comedones in familial PXE.

Sleep-wake profiles and circadian rhythms of core temperature and melatonin in young people with affective disorders.

PubMed

Carpenter, Joanne S; Robillard, Rébecca; Hermens, Daniel F; Naismith, Sharon L; Gordon, Christopher; Scott, Elizabeth M; Hickie, Ian B

2017-11-01

While disturbances of the sleep-wake cycle are common in people with affective disorders, the characteristics of these disturbances differ greatly between individuals. This heterogeneity is likely to reflect multiple underlying pathophysiologies, with different perturbations in circadian systems contributing to the variation in sleep-wake cycle disturbances. Such disturbances may be particularly relevant in adolescents and young adults with affective disorders as circadian rhythms undergo considerable change during this key developmental period. This study aimed to identify profiles of sleep-wake disturbance in young people with affective disorders and investigate associations with biological circadian rhythms. Fifty young people with affective disorders and 19 control participants (aged 16-31 years) underwent actigraphy monitoring for approximately two weeks to derive sleep-wake cycle parameters, and completed an in-laboratory assessment including evening dim-light saliva collection for melatonin assay and overnight continuous core body temperature measurement. Cluster analysis based on sleep-wake cycle parameters identified three distinct patient groups, characterised by 'delayed sleep-wake', 'disrupted sleep', and 'long sleep' respectively. The 'delayed sleep-wake' group had both delayed melatonin onset and core temperature nadir; whereas the other two cluster groups did not differ from controls on these circadian markers. The three groups did not differ on clinical characteristics. These results provide evidence that only some types of sleep-wake disturbance in young people with affective disorders are associated with fundamental circadian perturbations. Consequently, interventions targeting endogenous circadian rhythms to promote a phase shift may be particularly relevant in youth with affective disorders presenting with delayed sleep-wake cycles. Copyright © 2017 Elsevier Ltd. All rights reserved.

Multiple endocrine neoplasia (MEN) I

MedlinePlus

... at any age, and it affects men and women equally. A family history of this disorder raises your risk. ... interest Fatigue Headache Lack of menstrual periods (in women) Loss ... to the cold Unintentional weight loss Vision problems Weakness

Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 58, Number SS-10

ERIC Educational Resources Information Center

Rice, Catherine

2009-01-01

Problem/Condition: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by atypical development in socialization, communication, and behavior. ASDs typically are apparent before age 3 years, with associated impairments affecting multiple areas of a person's life. Because no biologic marker exists for ASDs,…

The diagnosis and management of dyscalculia.

PubMed

Kaufmann, Liane; von Aster, Michael

2012-11-01

Dyscalculia is defined as difficulty acquiring basic arithmetic skills that is not explained by low intelligence or inadequate schooling. About 5% of children in primary schools are affected. Dyscalculia does not improve without treatment. In this article, we selectively review publications on dyscalculia from multiple disciplines (medicine, psychology, neuroscience, education/special education). Many children and adolescents with dyscalculia have associated cognitive dysfunction (e.g., impairment of working memory and visuospatial skills), and 20% to 60% of those affected have comorbid disorders such as dyslexia or attention deficit disorder. The few interventional studies that have been published to date document the efficacy of pedagogic-therapeutic interventions directed toward specific problem areas. The treatment is tailored to the individual patient's cognitive functional profile and severity of manifestations. Psychotherapy and/or medication are sometimes necessary as well. The early identification and treatment of dyscalculia are very important in view of its frequent association with mental disorders. Sufferers need a thorough, neuropsychologically oriented diagnostic evaluation that takes account of the complexity of dyscalculia and its multiple phenotypes and can thus provide a basis for the planning of effective treatment.

Cognitive behavioral approach to understanding irritable bowel syndrome

PubMed Central

Hauser, Goran; Pletikosic, Sanda; Tkalcic, Mladenka

2014-01-01

Irritable bowel syndrome (IBS) is considered a biopsychosocial disorder, whose onset and precipitation are a consequence of interaction among multiple factors which include motility disturbances, abnormalities of gastrointestinal sensation, gut inflammation and infection, altered processing of afferent sensory information, psychological distress, and affective disturbances. Several models have been proposed in order to describe and explain IBS, each of them focusing on specific aspects or mechanisms of the disorder. This review attempts to present and discuss different determinants of IBS and its symptoms, from a cognitive behavioral therapy framework, distinguishing between the developmental predispositions and precipitants of the disorder, and its perpetuating cognitive, behavioral, affective and physiological factors. The main focus in understanding IBS will be placed on the numerous psychosocial factors, such as personality traits, early experiences, affective disturbances, altered attention and cognitions, avoidance behavior, stress, coping and social support. In conclusion, a symptom perpetuation model is proposed. PMID:24944466

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

PubMed

Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

2017-06-01

Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones were found among nonambulatory males compared to ambulatory males. Attention-deficit hyperactivity disorder (ADHD) was more common in ambulatory than nonambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

Contrast-enhanced ultrasound and computed tomography findings of granulomatosis with polyangiitis presenting with multiple intrarenal microaneurysms: A case report.

PubMed

Kim, Youe Ree; Lee, Young Hwan; Lee, Jong-Ho; Yoon, Kwon-Ha

Granulomatosis with polyangiitis (GPA) is a systemic disorder that affects small- and medium- sized vessels in many organs. Although the kidneys are the second most commonly involved organ in patients with GPA, its manifestation as multiple intrarenal aneurysms is rare. We report an unusual manifestation of GPA with multiple intrarenal microaneurysms, as demonstrated by contrast-enhanced ultrasound and computed tomography. Copyright © 2017 Elsevier Inc. All rights reserved.

Muscle-Bone Interactions in Pediatric Bone Diseases.

PubMed

Veilleux, Louis-Nicolas; Rauch, Frank

2017-10-01

Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur. Primary bone diseases can affect muscles through generic mechanisms, such as decreased physical activity or in disease-specific ways. For example, the collagen defect underlying the bone fragility of osteogenesis imperfecta may also affect muscle force generation or transmission. Transforming growth factor beta released from bone in Camurati Engelman disease may decrease muscle function. Considering muscle-bone interactions does not only contribute to the understanding of musculoskeletal disorders but also can identify new targets for therapeutic interventions.

"A Group of Me's": Adult Learning through Group Process: The Experiences of Participants in a Teleconference Delivered Multiple Sclerosis Fatigue Management Program

ERIC Educational Resources Information Center

Preissner, Katharine L.

2013-01-01

Multiple sclerosis (MS) is a chronic, progressive neurological disorder that affects approximately 2.1 million people worldwide. Fatigue is one of the most common and most disabling symptoms of MS. One well-established approach to address fatigue is fatigue management education provided by an occupational therapist. Fatigue management education is…

Clinical profile of depressive disorder in children.

PubMed

Krishnakumar, P; Geeta, M G

2006-06-01

The aim of this retrospective study was to evaluate the risk factors, clinical features and co-morbid disorders of depressive disorder in children below the age of 12 years. Children who attended the child guidance clinic between January 2000 and December 2003 formed the subjects for the study. The diagnosis of depressive disorder was based on DSMIV diagnostic criteria for Major Depressive Disorder, Single episode. There were 26 boys and 19 girls. Stress at school and in the family was significantly associated with depressive disorder. Children with depressive disorder had significantly more family members affected with mental illnesses. The clinical features included diminished interest in play and activities, excessive tiredness, low self- esteem, problems with concentration, multiple somatic complaints, behavior symptoms like anger and aggression, recent deterioration in school performance and suicidal behavior. Majority of children had other associated psychiatric disorders which included dysthymic disorder, anxiety disorders, conduct disorder and conversion disorder.

The affective dimension of pain as a risk factor for drug and alcohol addiction.

PubMed

LeBlanc, Dana M; McGinn, M Adrienne; Itoga, Christy A; Edwards, Scott

2015-12-01

Addiction, or substance use disorder (SUD), is a devastating psychiatric disease composed of multiple elemental features. As a biobehavioral disorder, escalation of drug and/or alcohol intake is both a cause and consequence of molecular neuroadaptations in central brain reinforcement circuitry. Multiple mesolimbic areas mediate a host of negative affective and motivational symptoms that appear to be central to the addiction process. Brain stress- and reinforcement-related regions such as the central amygdala (CeA), prefrontal cortex (PFC), and nucleus accumbens (NAc) also serve as central processors of ascending nociceptive input. We hypothesize that a sensitization of brain mechanisms underlying the processing of persistent and maladaptive pain contributes to a composite negative affective state to drive the enduring, relapsing nature of addiction, particularly in the case of alcohol and opioid use disorder. At the neurochemical level, pain activates central stress-related neuropeptide signaling, including the dynorphin and corticotropin-releasing factor (CRF) systems, and by this process may facilitate negative affect and escalated drug and alcohol use over time. Importantly, the widespread prevalence of unresolved pain and associated affective dysregulation in clinical populations highlights the need for more effective analgesic medications with reduced potential for tolerance and dependence. The burgeoning epidemic of prescription opioid abuse also demands a closer investigation into the neurobiological mechanisms of how pain treatment could potentially represent a significant risk factor for addiction in vulnerable populations. Finally, the continuing convergence of sensory and affective neuroscience fields is expected to generate insight into the critical balance between pain relief and addiction liability, as well as provide more effective therapeutic strategies for chronic pain and addiction. Copyright © 2015 Elsevier Inc. All rights reserved.

Affective brain areas and sleep disordered breathing

PubMed Central

Harper, Ronald M.; Kumar, Rajesh; Macey, Paul M.; Woo, Mary A.; Ogren, Jennifer A.

2014-01-01

The neural damage accompanying the hypoxia, reduced perfusion, and other consequences of sleep-disordered breathing found in obstructive sleep apnea, heart failure (HF), and congenital central hypoventilation syndrome (CCHS), appears in areas that serve multiple functions, including emotional drives to breathe, and involve systems that serve affective, cardiovascular, and breathing roles. The damage, assessed with structural magnetic resonance imaging (MRI) procedures, shows tissue loss or water content and diffusion changes indicative of injury, and impaired axonal integrity between structures; damage is preferentially unilateral. Functional MRI responses in affected areas also are time- or amplitude- distorted to ventilatory or autonomic challenges. Among the structures injured are the insular, cingulate, and ventral medial prefrontal cortices, as well as cerebellar deep nuclei and cortex, anterior hypothalamus, raphé, ventrolateral medulla, basal ganglia and, in CCHS, the locus coeruleus. Raphé and locus coeruleus injury may modify serotonergic and adrenergic modulation of upper airway and arousal characteristics. Since both axons and gray matter show injury, the consequences to function, especially to autonomic, cognitive, and mood regulation, are major. Several affected rostral sites, including the insular and cingulate cortices and hippocampus, mediate aspects of dyspnea, especially in CCHS, while others, including the anterior cingulate and thalamus, participate in initiation of inspiration after central breathing pauses, and the medullary injury can impair baroreflex and breathing control. The ancillary injury associated with sleep-disordered breathing to central structures can elicit multiple other distortions in cardiovascular, cognitive, and emotional functions in addition to effects on breathing regulation. PMID:24746053

Affective temperaments play an important role in the relationship between childhood abuse and depressive symptoms in major depressive disorder.

PubMed

Toda, Hiroyuki; Inoue, Takeshi; Tsunoda, Tomoya; Nakai, Yukiei; Tanichi, Masaaki; Tanaka, Teppei; Hashimoto, Naoki; Takaesu, Yoshikazu; Nakagawa, Shin; Kitaichi, Yuji; Boku, Shuken; Tanabe, Hajime; Nibuya, Masashi; Yoshino, Aihide; Kusumi, Ichiro

2016-02-28

Previous studies have shown that various factors, such as genetic and environmental factors, contribute to the development of major depressive disorder (MDD). The aim of this study is to clarify how multiple factors, including affective temperaments, childhood abuse and adult life events, are involved in the severity of depressive symptoms in MDD. A total of 98 participants with MDD were studied using the following self-administered questionnaire surveys: Patient Health Questionnaire-9 measuring the severity of depressive symptoms; Life Experiences Survey (LES) measuring negative and positive adult life events; Temperament Evaluation of the Memphis, Pisa, Paris, and San Diego auto-questionnaire (TEMPS-A) measuring affective temperaments; and the Child Abuse and Trauma Scale (CATS) measuring childhood abuse. The data were analyzed using single and multiple regression analyses and structural equation modeling (SEM). The neglect score reported by CATS indirectly predicted the severity of depressive symptoms through affective temperaments measured by TEMPS-A in SEM. Four temperaments (depressive, cyclothymic, irritable, and anxious) directly predicted the severity of depressive symptoms. The negative change in the LES score also directly predicted severity. This study suggests that childhood abuse, especially neglect, indirectly increases the severity of depressive symptoms through increased scores of affective temperaments in MDD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Perinatal Factors Affecting Expression of Obsessive Compulsive Disorder in Children and Adolescents

PubMed Central

Wieland, Natalie; Carey, Kathleen; Vivas, Fé; Petty, Carter R.; Johnson, Jessica; Reichert, Elizabeth; Pauls, David; Biederman, Joseph

2008-01-01

Abstract Objective To examine whether adverse perinatal experiences of children are associated with obsessive compulsive disorder (OCD) in youth. Methods Subjects were 130 children and adolescents with OCD recruited from a family genetic study of pediatric OCD and 49 matched controls from a contemporaneous family case-control study of attention-deficit/hyperactivity disorder (ADHD). Subjects were comprehensively assessed in multiple domains of function. A systematic history of pregnancy, delivery, and infancy complications was obtained. Results Compared to normal controls, children with OCD had mothers with significantly higher rates of illness during pregnancy requiring medical care (χ2 = 8.61, p = 0.003) and more birth difficulties (induced labor, forceps delivery, nuchal cord, or prolonged labor) (χ2 = 7.51, p = 0.006). Among the OCD-affected children, we found several significant associations between adverse perinatal experiences and earlier age at onset, increased OCD severity, and increased risk for comorbid ADHD, chronic tic disorder, anxiety disorder, and major depressive disorder. Conclusion Although exploratory, our analyses found that children with OCD had higher rates of several adverse perinatal experiences compared with controls. Among OCD-affected children, comorbid psychopathology was predicted by specific perinatal risk factors. Prospective studies of perinatal adverse events that minimize potential recall bias and type I errors are needed. PMID:18759647

Spectrum of PORCN mutations in Focal Dermal Hypoplasia

USDA-ARS?s Scientific Manuscript database

Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

CNS Diseases and Uveitis

PubMed Central

Allegri, Pia; Rissotto, Roberto; Herbort, Carl P.; Murialdo, Ugo

2011-01-01

A number of inflammatory, infectious, neoplastic and idiopathic disorders affect the eye and the central nervous system (CNS) concurrently or at different time frames. These conditions pose a diagnostic challenge to the clinician since they may present with similar ocular and neurological manifestations. The purpose of this review is to describe major neurological syndromes including multiple sclerosis, Vogt-Koyanagi-Harada disease, other autoimmune syndromes, and several infectious diseases which may affect the eye. This article may serve as a guide for the diagnosis and treatment of such disorders. It should be noted that these conditions have been viewed from a neurologist’s perspective thereby neurologic involvement is stressed. PMID:22454751

Myelodysplastic syndromes in older adults.

PubMed

Lindsey, Melissa; Beavers, Jill

2010-10-01

Myelodsyplastic syndromes are a collection of disorders that affect the hematopoietic development of myeloid cells in the bone marrow. Although this disorder is curable by way of allogeneic stem cell transplantation, advanced age, limited donor availability, and multiple comorbidities often exclude patients from curative treatment. Developments using the drugs lenalidomide, decitabine, and azacitidine have offered treatment options to patients ineligible for transplantation. Nurses remain instrumental in the administration, patient monitoring, and patient education associated with these new therapies.

Examining the relationships between posttraumatic stress disorder symptoms, positive smoking outcome expectancies, and cigarette smoking in people with substance use disorders: a multiple mediator model.

PubMed

Hruska, Bryce; Bernier, Jennifer; Kenner, Frank; Kenne, Deric R; Boros, Alec P; Richardson, Christopher J; Delahanty, Douglas L

2014-01-01

Cigarette smoking is highly prevalent in people with substance use disorders (SUDs) and is associated with significant physical health problems. Posttraumatic stress disorder (PTSD) is also highly associated with both SUDs and cigarette smoking and may serve as a barrier to smoking cessation efforts. In addition, people with PTSD are more likely to hold positive smoking outcome expectancies (i.e., beliefs that smoking cigarettes results in positive outcomes); these beliefs may contribute to cigarette smoking in people with SUDs experiencing PTSD symptoms. The present study examined the relationship between PTSD symptoms and typical daily cigarette smoking/cigarette dependence symptoms in a sample of 227 trauma-exposed current smokers with SUDs (59.9% male, 89.4% Caucasian) seeking detoxification treatment services. Additionally, the indirect effects of multiple types of positive smoking outcome expectancies on these relationships were examined. Participants completed questionnaires assessing PTSD symptoms, positive smoking outcome expectancies, cigarette consumption, and cigarette dependence symptoms. Results indicated that PTSD symptoms were not directly related to cigarette consumption or cigarette dependence symptoms. However, negative affect reduction outcome expectancies were shown to have a significant indirect effect between PTSD symptoms and cigarette consumption, while negative affect reduction, boredom reduction, and taste-sensorimotor manipulation outcome expectancies were all found to have significant indirect effects between PTSD symptoms and cigarette dependence symptoms. The indirect effect involving negative affect reduction outcome expectancies was statistically larger than that of taste sensorimotor manipulation outcome expectancies, while negative affect reduction and boredom reduction outcome expectancies were comparable in magnitude. These results suggest that expectancies that smoking can manage negative affective experiences are related to cigarette smoking in people with SUDs experiencing PTSD symptoms and suggest that effective smoking cessation treatments should take into account these expectancies. © 2013.

Clinical and cognitive factors affecting psychosocial functioning in remitted patients with bipolar disorder.

PubMed

Konstantakopoulos, G; Ioannidi, N; Typaldou, M; Sakkas, D; Oulis, P

2016-01-01

Impaired interpersonal, social, and occupational functioning is very often observed in patients with bipolar disorder, not only at the acute stages of the illness but in remission as well. This finding raises the question of multiple factors that might affect psychosocial functioning in bipolar patients, such as residual subsyndromal symptoms and neuropsychological deficits. Social cognition impairment, especially impaired Theory of Mind (ToM), might also play an important role in bipolar patients' every-day functioning, similarly to what was found in patients with schizophrenia. The present study aimed to investigate the potential effect of clinical and cognitive factors on the psychosocial functioning of patients with bipolar disorder during remission, assessing ToM along with a broad range of basic cognitive functions. Forty-nine patients with bipolar disorder type I in remission and 53 healthy participants were assessed in general intelligence, working memory, attention, speed processing, verbal learning and memory, and executive functions using a comprehensive battery of neuropsychological tests. The Faux Pas Recognition Test was used to assess ToM. The two groups were matched for gender, age and education level. The Hamilton Rating Scale for Depression (HDRS), the Young Mania Rating Scale (YMRS), and the Brief Psychiatric Rating Scale (BPRS) were also administered to the patients. Every-day functioning was assessed with the Global Assessment of Functioning (GAF). In order to examine the contribution of many factors in psychosocial functioning, we used hierarchical multiple regression analysis. Bipolar patients presented significant impairment compared to healthy participants in all the basic cognitive functions tested with the exception of verbal memory. Moreover, patients had significant poorer performance than healthy controls in overall psyand cognitive ToM but not in affective ToM as measured by Faux Pas. Psychosocial functioning in patient group was significantly correlated to symptom severity-especially depressive (p<0.001) and psychotic symptoms (p=0.001), history of psychotic episodes (p=0.031) and ToM, overall (p=0.001) as well as its cognitive (p=0.023) and affective (p=0.004) components. Only the contribution of ToM in psychosocial functioning remained significant in the final multiple regression model. The findings of the current study indicate that residual symptoms and cognitive dysfunctions, especially deficits in social cognition, negatively affect psychosocial functioning of remitted patients with bipolar disorder. Moreover, our results suggest that ToM may play a central role in these patients' functioning. ToM is a mediator of the relationship between other clinical or cognitive variables and functioning, while it has also significant effect on social skills independently of other factors. Therefore, specific therapeutic interventions targeting social cognitive dysfunction might improve functional outcome in bipolar disorder. Putative contribution of other clinical characteristics (comorbid personality disorders, substance abuse, anxiety) and psychosocial factors (stigma, self-stigma, lack of social network) in bipolar patients' functioning should be examined in future studies.

The aggressor at the mirror: Psychiatric correlates of deliberate self-harm in male prison inmates.

PubMed

Verdolini, N; Murru, A; Attademo, L; Garinella, R; Pacchiarotti, I; Bonnin, C Del Mar; Samalin, L; Pauselli, L; Piselli, M; Tamantini, A; Quartesan, R; Carvalho, A F; Vieta, E; Tortorella, A

2017-07-01

Deliberate self-harm (DSH) causes important concern in prison inmates as it worsens morbidity and increases the risk for suicide. The aim of the present study is to investigate the prevalence and correlates of DSH in a large sample of male prisoners. A cross-sectional study evaluated male prisoners aged 18+ years. Current and lifetime psychiatric diagnoses were assessed with the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders - DSM-IV Axis I and Axis II Disorders and with the Addiction Severity Index-Expanded Version. DSH was assessed with The Deliberate Self-Harm Inventory. Multivariable logistic regression models were used to identify independent correlates of lifetime DSH. Ninety-three of 526 inmates (17.7%) reported at least 1 lifetime DSH behavior, and 58/93 (62.4%) of those reported a DSH act while in prison. After multivariable adjustment (sensitivity 41.9%, specificity 96.1%, area under the curve=0.854, 95% confidence interval CI=0.811-0.897, P<0.001), DSH was significantly associated with lifetime psychotic disorders (adjusted Odds Ratio aOR=6.227, 95% CI=2.183-17.762, P=0.001), borderline personality disorder (aOR=6.004, 95% CI=3.305-10.907, P<0.001), affective disorders (aOR=2.856, 95% CI=1.350-6.039, P=0.006) and misuse of multiple substances (aOR=2.024, 95% CI=1.111-3.687, P=0.021). Borderline personality disorder and misuse of multiple substances are established risk factors of DSH, but psychotic and affective disorders were also associated with DSH in male prison inmates. This points to possible DSH-related clinical sub-groups, that bear specific treatment needs. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Pseudobulbar affect: prevalence and management

PubMed Central

Ahmed, Aiesha; Simmons, Zachary

2013-01-01

Pseudobulbar affect (PBA) may occur in association with a variety of neurological diseases, and so may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders, multiple sclerosis, traumatic brain injury, Alzheimer’s disease, stroke, and brain tumors. The psychological consequences and the impact on social interactions may be substantial. Although it is most commonly misidentified as a mood disorder, particularly depression or a bipolar disorder, there are characteristic features that can be recognized clinically or assessed by validated scales, resulting in accurate identification of PBA, and thus permitting proper management and treatment. Mechanistically, PBA is a disinhibition syndrome in which pathways involving serotonin and glutamate are disrupted. This knowledge has permitted effective treatment for many years with antidepressants, particularly tricyclic antidepressants and selective serotonin reuptake inhibitors. A recent therapeutic breakthrough occurred with the approval by the Food and Drug Administration of a dextromethorphan/quinidine combination as being safe and effective for treatment of PBA. Side effect profiles and contraindications differ for the various treatment options, and the clinician must be familiar with these when choosing the best therapy for an individual, particularly elderly patients and those with multiple comorbidities and concomitant medications. PMID:24348042

Pseudobulbar affect: prevalence and management.

PubMed

Ahmed, Aiesha; Simmons, Zachary

2013-01-01

Pseudobulbar affect (PBA) may occur in association with a variety of neurological diseases, and so may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders, multiple sclerosis, traumatic brain injury, Alzheimer's disease, stroke, and brain tumors. The psychological consequences and the impact on social interactions may be substantial. Although it is most commonly misidentified as a mood disorder, particularly depression or a bipolar disorder, there are characteristic features that can be recognized clinically or assessed by validated scales, resulting in accurate identification of PBA, and thus permitting proper management and treatment. Mechanistically, PBA is a disinhibition syndrome in which pathways involving serotonin and glutamate are disrupted. This knowledge has permitted effective treatment for many years with antidepressants, particularly tricyclic antidepressants and selective serotonin reuptake inhibitors. A recent therapeutic breakthrough occurred with the approval by the Food and Drug Administration of a dextromethorphan/quinidine combination as being safe and effective for treatment of PBA. Side effect profiles and contraindications differ for the various treatment options, and the clinician must be familiar with these when choosing the best therapy for an individual, particularly elderly patients and those with multiple comorbidities and concomitant medications.

Racial/ethnic variations in substance-related disorders among adolescents in the United States.

PubMed

Wu, Li-Tzy; Woody, George E; Yang, Chongming; Pan, Jeng-Jong; Blazer, Dan G

2011-11-01

While young racial/ethnic groups are the fastest growing population in the United States, data about substance-related disorders among adolescents of various racial/ethnic backgrounds are lacking. To examine the magnitude of past-year DSM-IV substance-related disorders (alcohol, marijuana, cocaine, inhalants, hallucinogens, heroin, analgesic opioids, stimulants, sedatives, and tranquilizers) among adolescents of white, Hispanic, African American, Native American, Asian or Pacific Islander, and multiple race/ethnicity. The 2005 to 2008 National Survey on Drug Use and Health. Academic research. Noninstitutionalized household adolescents aged 12 to 17 years. Substance-related disorders were assessed by standardized survey questions administered using the audio computer-assisted self-interviewing method. Of 72 561 adolescents aged 12 to 17 years, 37.0% used alcohol or drugs in the past year; 7.9% met criteria for a substance-related disorder, with Native Americans having the highest prevalence of use (47.5%) and disorder (15.0%). Analgesic opioids were the second most commonly used illegal drugs, following marijuana, in all racial/ethnic groups; analgesic opioid use was comparatively prevalent among adolescents of Native American (9.7%) and multiple race/ethnicity (8.8%). Among 27 705 past-year alcohol or drug users, Native Americans (31.5%), adolescents of multiple race/ethnicity (25.2%), adolescents of white race/ethnicity (22.9%), and Hispanics (21.0%) had the highest rates of substance-related disorders. Adolescents used marijuana more frequently than alcohol or other drugs, and 25.9% of marijuana users met criteria for marijuana abuse or dependence. After controlling for adolescents' age, socioeconomic variables, population density of residence, self-rated health, and survey year, adjusted analyses of adolescent substance users indicated elevated odds of substance-related disorders among Native Americans, adolescents of multiple race/ethnicity, adolescents of white race/ethnicity, and Hispanics compared with African Americans; African Americans did not differ from Asians or Pacific Islanders. Substance use is widespread among adolescents of Native American, white, Hispanic, and multiple race/ethnicity. These groups also are disproportionately affected by substance-related disorders.

Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case

PubMed Central

Garcia, Gwenalyn; Ying, Liu; Hurford, Matthew; Odaimi, Marcel

2016-01-01

Systemic mastocytosis (SM) is a disease characterized by a clonal infiltration of mast cells affecting various tissues of the body. It is grouped into six different subtypes according to the World Health Organization classification. It is called indolent systemic mastocytosis (ISM) when there is no evidence of end organ dysfunction, while the presence of end organ dysfunction defines aggressive systemic mastocytosis (ASM). When SM coexists with a clonal hematological disorder, it is classified as systemic mastocytosis with associated clonal hematological nonmast cell lineage disease (SM-AHNMD). Over 80% of SM-AHNMD cases involve disorders of the myeloid cell lines. To our knowledge, there are only 8 reported cases to date of SM associated with a plasma cell disorder. We report a patient with ISM who was found to have concomitant smoldering multiple myeloma. His disease later progressed to ASM. We discuss this rare association between SM and a plasma cell disorder, and potential common pathophysiologic mechanisms linking the two disorders will be reviewed. We also discuss prognostic factors in SM as well as the management options considered during the evolution of the patient's disease. PMID:27293930

Diagnostic shift in patients diagnosed with schizoaffective disorder: a systematic review and meta-analysis of rediagnosis studies.

PubMed

Santelmann, Hanno; Franklin, Jeremy; Bußhoff, Jana; Baethge, Christopher

2016-05-01

The diagnosis of schizoaffective disorder (SAD) is well established in clinical practice but is heavily disputed on theoretical grounds. We analyzed the extent and direction of diagnostic shift in SAD patients. We searched Medline, Embase, and PsycINFO systematically for all studies documenting two diagnostic assessments at different points in time (rediagnosis studies) and used meta-analytic methods to quantify diagnostic shift. Multiple prespecified and post-hoc subgroup analyses (e.g., rater blinding) and meta-regressions (e.g., year of publication) were carried out. We included 31 studies out of 4,415 articles screened: 27 studies on the shift from and 23 studies on the shift to SAD (median time span was two years). A total of 36% of patients with a diagnosis of SAD at first assessment switch, many to schizophrenia (19%), 14% to affective disorders, and 6% to other disorders. Among patients diagnosed with SAD at second assessment, 55% had received a different diagnosis at first assessment, a large portion of whom had been initially diagnosed with affective disorder (24%), schizophrenia (18%), and other disorders (12%). Diagnostic shift in SAD patients is substantial. Psychiatrists need to reassess the diagnosis during the course of the illness and to adjust treatment. Slightly more diagnoses of SAD are changed to schizophrenia than to affective disorders, and among patients rediagnosed with SAD, fewer have been diagnosed with schizophrenia than with affective disorders. Thus, at the diagnostic level, there seems to be a slight trend toward schizophrenia during the course of functional psychoses. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Early developmental characteristics and features of major depressive disorder among child psychiatric patients in Hungary.

PubMed

Kapornai, Krisztina; Gentzler, Amy L; Tepper, Ping; Kiss, Eniko; Mayer, László; Tamás, Zsuzsanna; Kovacs, Maria; Vetró, Agnes

2007-06-01

We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.

Associations among Major Psychiatric Diagnoses.

ERIC Educational Resources Information Center

Wolf, Abraham W.; And Others

1988-01-01

Examined the frequency and associations of multiple diagnoses in 205 psychiatric inpatients, assessing past and current episodes of illness. Over one-half of the sample received more than one diagnosis. Alcoholism, antisocial personality, and drug dependence formed one group; primary depression, primary mania, and secondary affective disorder,…

Secondary conditions among males with Duchenne or Becker muscular dystrophy

PubMed Central

Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

2017-01-01

Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred and nine caregivers of affected males (aged 3–31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The five most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones, were found among non-ambulatory males compared to ambulatory males. Attention deficit hyperactivity disorder was more common in ambulatory than non-ambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis. PMID:28393671

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

PubMed

Janecka, M; Mill, J; Basson, M A; Goriely, A; Spiers, H; Reichenberg, A; Schalkwyk, L; Fernandes, C

2017-01-31

Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders.

Defensive mobilization in specific phobia: Fear specificity, negative affectivity and diagnostic prominence

PubMed Central

McTeague, Lisa M.; Lang, Peter J.; Wangelin, Bethany C.; Laplante, Marie-Claude; Bradley, Margaret M.

2012-01-01

Background Understanding of exaggerated responsivity in specific phobia—its physiology and neural mediators—has advanced considerably. However, despite strong phenotypic evidence that prominence of specific phobia relative to co-occurring conditions (i.e., principal versus non-principal disorder) is associated with dramatic differences in subjective distress, there is yet no consideration of such comorbidity issues on objective defensive reactivity. Methods A community sample of specific phobia (N=74 principal phobia; N=86 non-principal phobia) and control (n=76) participants imagined threatening and neutral events while acoustic startle probes were presented and eye-blink responses (orbicularis occuli) recorded. Changes in heart rate, skin conductance level, and facial expressivity were also measured. Results Principal specific phobia patients far exceeded controls in startle reflex and autonomic reactivity during imagery of idiographic fear scenes. Distinguishing between single and multiple phobias within principal phobia and comparing these to non-principal phobia revealed a continuum of decreasing defensive mobilization: single phobia patients were strongly reactive, multiple phobia intermediate, and non-principal patients reliably attenuated—the inverse of measures of pervasive anxiety and dysphoria (i.e., negative affectivity). Further, as more disorders supplanted specific phobia from principal disorder, overall defensive mobilization was systematically more impaired. Conclusions The exaggerated responsivity considered characteristic of specific phobia is limited to those patients for whom circumscribed fear is the most impairing condition, and coincident with little additional affective psychopathology. As specific phobia is superseded in severity by broad and chronic negative affectivity, defensive reactivity progressively diminishes. Focal fears may still be clinically-significant, but not reflected in objective measures of defensive mobilization. PMID:22386377

Defensive mobilization in specific phobia: fear specificity, negative affectivity, and diagnostic prominence.

PubMed

McTeague, Lisa M; Lang, Peter J; Wangelin, Bethany C; Laplante, Marie-Claude; Bradley, Margaret M

2012-07-01

Understanding of exaggerated responsivity in specific phobia-its physiology and neural mediators-has advanced considerably. However, despite strong phenotypic evidence that prominence of specific phobia relative to co-occurring conditions (i.e., principal versus nonprincipal disorder) is associated with dramatic differences in subjective distress, there is yet no consideration of such comorbidity issues on objective defensive reactivity. A community sample of specific phobia (n = 74 principal; n = 86 nonprincipal) and control (n = 76) participants imagined threatening and neutral events while acoustic startle probes were presented and eyeblinks (orbicularis occuli) recorded. Changes in heart rate, skin conductance level, and facial expressivity were also measured. Principal specific phobia patients far exceeded control participants in startle reflex and autonomic reactivity during idiographic fear imagery. Distinguishing between single and multiple phobias within principal phobia and comparing these with nonprincipal phobia revealed a continuum of decreasing defensive mobilization: single patients were strongly reactive, multiple patients were intermediate, and nonprincipal patients were attenuated-the inverse of measures of pervasive anxiety and dysphoria (i.e., negative affectivity). Further, as more disorders supplanted specific phobia from principal disorder, overall defensive mobilization was systematically more impaired. The exaggerated responsivity characteristic of specific phobia is limited to those patients for whom circumscribed fear is the most impairing condition and coincident with little additional affective psychopathology. As specific phobia is superseded in severity by broad and chronic negative affectivity, defensive reactivity progressively diminishes. Focal fears may still be clinically significant but not reflected in objective defensive mobilization. Copyright © 2012 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

HLA typing in patients with multiple evanescent white dot syndrome (MEWDS).

PubMed

Borruat, F X; Herbort, C P; Spertini, F; Desarnaulds, A B

1998-03-01

Multiple evanescent white dot syndrome (MEWDS) is an acquired chorioretinal disorder of unknown etiology. We investigated the possibility that MEWDS might be related to a specific HLA subtyping. Blood was obtained from nine patients affected by MEWDS. HLA-B51 was found in four of these nine patients with MEWDS. There was a 3.7-fold increased frequency of HLA-B51 in patients affected by MEWDS (relative risk 5.86). MEWDS might then be related to the presence of a specific HLA subtype, HLA-B51. However, due to the small sample size, our results need to be confirmed by further testing.

Self-stigma and quality of life in patients with depressive disorder: a cross-sectional study.

PubMed

Holubova, Michaela; Prasko, Jan; Ociskova, Marie; Marackova, Marketa; Grambal, Ales; Slepecky, Milos

2016-01-01

Self-stigma is a maladaptive psychosocial phenomenon that can affect many areas of patients' lives and have a negative impact on their quality of life (QoL). This study explored the association between self-stigma, QoL, demographic data, and the severity of symptoms in patients with depressive disorder. Patients who met the International Classification of Diseases, 10th revision, research criteria for depressive disorder were enrolled in this cross-sectional study. All outpatients completed the following measurements: the Quality of Life Enjoyment and Satisfaction Questionnaire, the Internalized Stigma of Mental Illness Scale, demographic questionnaire, and the objective and subjective Clinical Global Impression-Severity scales that measure the severity of disorder. A total of 81 depressive disorder patients (with persistent affective disorder - dysthymia, major depressive disorder, or recurrent depressive disorder) and 43 healthy controls participated in this study. Compared with the healthy control group, a lower QoL was observed in patients with depressive disorder. The level of self-stigma correlated positively with total symptom severity score and negatively with QoL. Multiple regression analysis revealed that the overall rating of objective symptom severity and score of self-stigma were significantly associated with QoL. This study suggests a lower QoL in patients with depressive disorder in comparison with healthy controls and a negative impact of self-stigma level on QoL in patients suffering from depressive disorders.

Understanding developmental language disorder - the Helsinki longitudinal SLI study (HelSLI): a study protocol.

PubMed

Laasonen, Marja; Smolander, Sini; Lahti-Nuuttila, Pekka; Leminen, Miika; Lajunen, Hanna-Reetta; Heinonen, Kati; Pesonen, Anu-Katriina; Bailey, Todd M; Pothos, Emmanuel M; Kujala, Teija; Leppänen, Paavo H T; Bartlett, Christopher W; Geneid, Ahmed; Lauronen, Leena; Service, Elisabet; Kunnari, Sari; Arkkila, Eva

2018-05-21

Developmental language disorder (DLD, also called specific language impairment, SLI) is a common developmental disorder comprising the largest disability group in pre-school-aged children. Approximately 7% of the population is expected to have developmental language difficulties. However, the specific etiological factors leading to DLD are not yet known and even the typical linguistic features appear to vary by language. We present here a project that investigates DLD at multiple levels of analysis and aims to make the reliable prediction and early identification of the difficulties possible. Following the multiple deficit model of developmental disorders, we investigate the DLD phenomenon at the etiological, neural, cognitive, behavioral, and psychosocial levels, in a longitudinal study of preschool children. In January 2013, we launched the Helsinki Longitudinal SLI study (HelSLI) at the Helsinki University Hospital ( http://tiny.cc/HelSLI ). We will study 227 children aged 3-6 years with suspected DLD and their 160 typically developing peers. Five subprojects will determine how the child's psychological characteristics and environment correlate with DLD and how the child's well-being relates to DLD, the characteristics of DLD in monolingual versus bilingual children, nonlinguistic cognitive correlates of DLD, electrophysiological underpinnings of DLD, and the role of genetic risk factors. Methods include saliva samples, EEG, computerized cognitive tasks, neuropsychological and speech and language assessments, video-observations, and questionnaires. The project aims to increase our understanding of the multiple interactive risk and protective factors that affect the developing heterogeneous cognitive and behavioral profile of DLD, including factors affecting literacy development. This accumulated knowledge will form a heuristic basis for the development of new interventions targeting linguistic and non-linguistic aspects of DLD.

Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex.

PubMed

Pedersen, Niels C; Liu, Hongwei; Greenfield, Daniel L; Echols, Layle Griffioen

2012-01-15

A disorder manifested by multiple autoimmune disorders, and resembling autoimmune polyendocrine syndrome type 2 (APS-2) in humans, may exist in Italian Greyhounds. The incidence of this disorder is increasing and its potential impact on the health of the breed is becoming of great concern. The aims of the present study were to document the existence of this syndrome, conduct a preliminary assessment of genetic diversity across the breed and within affected and unaffected dogs, determine whether the disorder associates with the dog leukocyte antigen (DLA) complex, and demonstrate similarities to APS-2 of humans. To these ends, information on disease, pedigrees, and blood or buccal swab samples were collected from affected and healthy Italian Greyhounds and extracted DNA analyzed. Analysis of Y chromosome markers and mitochondrial DNA sequences showed that Italian Greyhounds evolved from a single patriline and two major and four minor matrilines. A panel of 24 highly polymorphic simple tandem repeat (STR) markers across 20 autosomes demonstrated that affected and unaffected dogs were not distinguishable from the population as a whole by heterozygosity, F-statistics, and principal component analysis (PCA). However, analysis of allele frequencies at each STR loci identified regions of increased or decreased disease risk on four chromosomes. A similar genetic analysis using 109 single nucleotide polymorphisms (SNPs) across the DLA region showed differences between affected and unaffected dogs. PCA and zygosity mapping of DLA SNPs from unrelated dogs demonstrated two distinct subpopulations among the affected individuals. One population was very homozygous and the other closely resembled unaffected dogs in its heterozygosity, suggesting the evolution of a disease prone bloodline as a result of non-random selection. Exon 2 sequencing of the DLA class II genes demonstrated 5-8 alleles at each locus and 14 three loci haplotypes. Two specific haplotypes containing DRB1*00203 or DRB1*02901 were associated with increased disease risk in about one-third of affected dogs. However, high density SNP association mapping across the DLA region and CFA12 did not corroborate the association. Copyright © 2011 Elsevier B.V. All rights reserved.

Psychopharmacology of topiramate: from epilepsy to bipolar disorder

PubMed Central

Mula, Marco; Cavanna, Andrea E; Monaco, Francesco

2006-01-01

Topiramate (TPM) is one of the novel antiepileptic drugs and exhibits a wide range of mechanisms of action. Efficacy of TPM has been demonstrated in partial-onset seizures and primary generalized seizures in adults and children, as both monotherapy and adjunctive therapy. More recently, TPM has been proposed as an add-on treatment for patients with lithium-resistant bipolar disorder, especially those displaying rapid-cycling and mixed states. This paper reviews the multiple mechanisms of action and the tolerability profile of TPM in the light of its therapeutic potential in affective disorders. Studies of TPM in bipolar disorder are evaluated, and the efficacy and tolerability issues as a mood stabilizing agent are discussed. PMID:19412496

[Occupation-specific illnesses in musicians].

PubMed

Schuppert, M; Altenmüller, E

1999-12-01

Performance-related disorders in musicians are most often caused by multiple risk factors. They are based on the chronic complex, rapid and forceful work that requires highest precision, as well as on poor ergonomic conditions and psychological strain. Predominantly, the musculo-skeletal system of the upper extremity and the spine is affected by acute or chronic pain syndromes and neurological disorders. Stage fright and psychological tension frequently generate somatoform disorders and may contribute to the chronification of physical disabilities in musicians. Depending on the individual characteristics, the actual professional activity and the specific instrument, the performance-related risk factors and disorders differ widely. Early and regular prevention clearly contributes to a reduction of medical problems in musicians.

Traumatic exposure and posttraumatic stress disorder among flood victims: Testing a multiple mediating model.

PubMed

Quan, Lijuan; Zhen, Rui; Yao, Benxian; Zhou, Xiao

2017-05-01

A total of 187 flood victims from Wuhu, a Chinese city affected most severely by a flood during July 2016, were selected to complete self-report measures of traumatic exposure, feelings of safety, fear, posttraumatic negative cognition, and posttraumatic stress disorder. The results found that traumatic exposure could directly predict posttraumatic stress disorder. Besides, traumatic exposure had indirect prediction on posttraumatic stress disorder through three ways, including a one-step path of negative self-cognition, a two-step path from feelings of safety to fear, and a three-step path from feelings of safety to negative self-cognition via fear. Implications and future directions are correspondingly discussed.

Dissociative Disorders: Between Neurosis and Psychosis

PubMed Central

Devillé, C.; Moeglin, C.; Sentissi, O.

2014-01-01

Dissociative disorders are a set of disorders defined by a disturbance affecting functions that are normally integrated with a prevalence of 2.4 percent in industrialised countries. These disorders are often poorly diagnosed or misdiagnosed because of sharing common clinical features with psychotic disorders, but requiring a very different trajectory of care. Repeated clinical situations in a crisis centre in Geneva provided us with a critical overview of current evidence of knowledge in clinical and etiopathological field about dissociative disorders. Because of their multiple expressions and the overlap with psychotic disorders, we focused on the clinical aspects using three different situations to better understand their specificity and to extend our thinking to the relevance of terms “neurosis” and “psychosis.” Finally, we hope that this work might help physicians and psychiatrists to become more aware of this complex set of disorders while making a diagnosis. PMID:25405051

Association of child maltreatment and psychiatric diagnosis in Brazilian children and adolescents

PubMed Central

Scomparini, Luciana Burim; dos Santos, Bernardo; Rosenheck, Robert Alan; Scivoletto, Sandra

2013-01-01

OBJECTIVES: The objective of this study was to evaluate the association between different types of child maltreatment and the presence of psychiatric disorders in highly vulnerable children and adolescents served by a multidisciplinary program. METHODS: In total, 351 patients with a mean age of 12.47, of whom 68.7% were male and 82.1% lived in shelters, underwent psychiatric evaluations based on the Kiddie-Sads-Present and Lifetime Version. Two different methods were used to evaluate maltreatment: medical records were reviewed to identify previous diagnoses related to socioeconomic and psychosocial circumstances, and the Childhood Trauma Questionnaire was used to obtain a structured history of trauma. Bivariate associations were evaluated between psychiatric disorders and evidence of each type and the frequency of abuse. RESULTS: The most frequent psychiatric diagnoses were substance use disorders, affective disorders and specific disorders of early childhood, whereas 13.67% of the sample had no psychiatric diagnosis. All patients suffered neglect, and 58.4% experienced physical or sexual abuse. The presence of a history of multiple traumas was only associated with a diagnosis of substance use disorder. Mental retardation showed a strong positive association with reported physical abuse and emotional neglect. However, a negative correlation was found when we analyzed the presence of a history of multiple traumas and mental retardation. CONCLUSION: All children living in adverse conditions deserve careful assistance, but we found that physical abuse and emotional neglect were most strongly associated with mental retardation and multiple traumas with substance abuse. PMID:24037004

Neuroanatomy of pseudobulbar affect : a quantitative MRI study in multiple sclerosis.

PubMed

Ghaffar, Omar; Chamelian, Laury; Feinstein, Anthony

2008-03-01

Pseudobulbar affect (PBA) is defined as episodes of involuntary crying, laughing, or both in the absence of a matching subjective mood state. This neuropsychiatric syndrome can be found in a number of neurological disorders including multiple sclerosis (MS). The aim of this study was to identify neuroanatomical correlates of PBA in multiple sclerosis (MS) using a case-control 1.5T MRI study. MS patients with (n = 14) and without (n = 14) PBA were matched on demographic, disease course, and disability variables. Comorbid psychiatric disorders including depressive and anxiety disorders were absent. Hypo- and hyperintense lesion volumes plus measurements of atrophy were obtained and localized anatomically according to parcellated brain regions. Between-group statistical comparisons were undertaken with alpha set at 0.01 for the primary analysis. Discrete differences in lesion volume were noted in six regions: Brainstem hypointense lesions, bilateral inferior parietal and medial inferior frontal hyperintense lesions, and right medial superior frontal hyperintense lesions were all significantly higher in the PBA group. A logistic regression model identified four of these variables (brainstem hypointense, left inferior parietal hyperintense, and left and right medial inferior frontal hyperintense lesion volumes) that accounted for 70% of the variance when it came to explaining the presence of PBA. In conclusion, MS patients with PBA have a distinct distribution of brain lesions when compared to a matched MS sample without PBA. The lesion data support a widely-dispersed neural network involving frontal, parietal, and brainstem regions in the pathophysiology of PBA.

[Tics and Gilles de la Tourette syndrome].

PubMed

Tijero-Merino, B; Gómez-Esteban, J C; Zarranz, J J

2009-01-23

Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or sounds (phonic tics). It is often associated with psychiatric comorbidities, mainly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. Given its diverse presentation, Tourette's syndrome can almost mimic many hyperkinetic disorders, making the diagnosis challenging at times. The etiology of this syndrome is thought to be related to basal ganglia dysfunction and many clues have been pursued, both genetic and environmental factors, but no compelling major contribution to the pathogenesis of the disease has yet emerged. Treatment can be behavioural, pharmacologic, or surgical, and is dictated by the most incapacitating symptoms. Alpha-2-adrenergic agonists are the first line of pharmacologic therapy, but dopamine-receptor-blocking drugs are required for multiple, complex tics. Dopamine-receptor-blocking drugs are associated with potential side effects. Appropriate diagnosis and treatment can substantially improve quality of life and psychosocial functioning in affected patients.

Psychiatric consequences of stress after a vehicle accident.

PubMed

Dickov, Aleksandra; Martinović-Mitrović, Sladjana; Vucković, Nikola; Siladji-Mladenović, Djendji; Mitrović, Dragan; Jovicević, Mirjana; Misić-Pavkov, Gordana

2009-12-01

Vehicle accidents are a common cause of disease and death among people over 30 years of age. Essentially, reaction to stress due to the vehicle accident does not differ from the reaction to other stress factors. There are still no uniform viewpoints about the kind of sequels and their percentage representation after vehicle accidents. The research was provided as a prospective study, included 150 subjects who had vehicle accident minimum 2 years prior to the examination. A questionnaire adjusted to the needs of the research and a battery of psychological tests was used. Affective disorders occurred in 35.33% of subjects, 65% of persons suffer from travel anxiety, 9% of the total number of examinees doesn't drive any more, 65% have somatisational dysfunctions of the vegetative nervous system, while the posttraumatic stress disorder is present in 36% of subjects. In 87.4% of persons psychiatric consequences last over two years. Long term consequences in 60% of subjects occur as a combination of multiple psychiatric disorders, so the posttraumatic stress disorder and affective disorders never occur one at a time.

Predictors of Broad Dimensions of Psychopathology among Patients with Panic Disorder after Cognitive-Behavioral Therapy

PubMed Central

Kondo, Masaki; Ino, Keiko; Imai, Risa; Ii, Toshitaka; Furukawa, Toshi A.; Akechi, Tatsuo

2018-01-01

Background Many patients with panic disorder meet criteria for at least one other diagnosis, most commonly other anxiety or mood disorders. Cognitive-behavioral therapy is the best empirically supported psychotherapy for panic disorder. There is now evidence indicating that cognitive-behavioral therapy for panic disorder yields positive benefits upon comorbid disorders. Objectives The present study aimed to examine the predictors of broad dimensions of psychopathology in panic disorder after cognitive-behavioral therapy. Methods Two hundred patients affected by panic disorder were treated with manualized group cognitive-behavioral therapy. We examined if the baseline personality dimensions of NEO Five Factor Index predicted the subscales of Symptom Checklist-90 Revised at endpoint using multiple regression analysis based on the intention-to-treat principle. Results Conscientiousness score of NEO Five Factor Index at baseline was a predictor of four Symptom Checklist-90 Revised subscales including obsessive-compulsive (β = −0.15, P < 0.01), depression (β = −0.13, P < 0.05), phobic anxiety (β = −0.15, P < 0.05), and Global Severity Index (β = −0.13, P < 0.05). Conclusion Conscientiousness at baseline may predict several dimensions of psychopathology in patients with panic disorder after cognitive-behavioral therapy. For the purpose of improving a wide range of psychiatric symptoms with patients affected by panic disorder, it may be useful to pay more attention to this personal trait at baseline. PMID:29721499

Predictors of Broad Dimensions of Psychopathology among Patients with Panic Disorder after Cognitive-Behavioral Therapy.

PubMed

Ogawa, Sei; Kondo, Masaki; Ino, Keiko; Imai, Risa; Ii, Toshitaka; Furukawa, Toshi A; Akechi, Tatsuo

2018-01-01

Many patients with panic disorder meet criteria for at least one other diagnosis, most commonly other anxiety or mood disorders. Cognitive-behavioral therapy is the best empirically supported psychotherapy for panic disorder. There is now evidence indicating that cognitive-behavioral therapy for panic disorder yields positive benefits upon comorbid disorders. The present study aimed to examine the predictors of broad dimensions of psychopathology in panic disorder after cognitive-behavioral therapy. Two hundred patients affected by panic disorder were treated with manualized group cognitive-behavioral therapy. We examined if the baseline personality dimensions of NEO Five Factor Index predicted the subscales of Symptom Checklist-90 Revised at endpoint using multiple regression analysis based on the intention-to-treat principle. Conscientiousness score of NEO Five Factor Index at baseline was a predictor of four Symptom Checklist-90 Revised subscales including obsessive-compulsive ( β = -0.15, P < 0.01), depression ( β = -0.13, P < 0.05), phobic anxiety ( β = -0.15, P < 0.05), and Global Severity Index ( β = -0.13, P < 0.05). Conscientiousness at baseline may predict several dimensions of psychopathology in patients with panic disorder after cognitive-behavioral therapy. For the purpose of improving a wide range of psychiatric symptoms with patients affected by panic disorder, it may be useful to pay more attention to this personal trait at baseline.

Proceedings of the 2017 annual meeting of the Fetal Alcohol Spectrum Disorders study group.

PubMed

Wozniak, Jeffrey R; Klintsova, Anna Y; Hamilton, Derek A; Mooney, Sandra M

2018-06-01

The 2017 Fetal Alcohol Spectrum Disorders Study Group (FASDSG) meeting was titled "Prenatal alcohol exposure in the context of multiple factors affecting brain development." The theme was reflected in the interactions between members of the Teratology Society and the FASDSG this year. The first keynote speaker, Elaine Faustman, Ph.D., was a liaison between the societies and spoke about systems biology and the multiple genetic and environmental influences on development. The second keynote speaker, Rebecca Knickmeyer, Ph.D., discussed population neuroscience and multiple influences on brain development. The conference presented updates from three government agencies and short presentations by junior and senior investigators showcasing late-breaking FASD research. The conference was capped by Dr. John Hannigan, Ph.D., the recipient of the 2017 Henry Rosett award for career-long contributions to the field. Copyright © 2017 Elsevier Inc. All rights reserved.

[SOX2 defect and anophthalmia and microphthalmia].

PubMed

Ye, Fu-xiang; Fan, Xian-qun

2012-11-01

As a severe congenital developmental disorder, anophthalmia and microphthalmia are usually accompanied with vision impairment and hypoevolutism of the orbit in the affected side. Many genes are involved in anophthalmia and microphthalmia, in which, SOX2 is an important one. The defect of SOX2 causes multiple system disorders, including anophthalmia and microphthalmia. We describe the relationship between the SOX2 defect and anophthalmia/microphthalmia, in order to offer some proposals for the differential diagnosis, treatment and research of anophthalmia and microphthalmia.

The DSM-IV nosology of chronic pain: a comparison of pain disorder and multiple somatization syndrome.

PubMed

Hiller, W; Heuser, J; Fichter, M M

2000-01-01

This study evaluates the classification of pain from the perspective of the DSM-IV system. Of 60 in-patients with long-standing and disabling pain syndromes, 29 with pain disorder (PD) and 31 with pain as part of a multiple somatization syndrome (MSS) were compared before and after a structured cognitive-behavioral treatment. It was hypothesized that MSS patients show more psychological distress, are more severely disabled, and respond less to the treatment. Both groups were similar with respect to sociodemographic status, history of pain symptomatology and comorbidity with DSM-IV mental disorders. The results show that MSS patients had higher levels of affective and sensoric pain sensations as well as more pain-related disabilities. They were also less successful during treatment to reduce their pain-related depression and anxiety. Psychosocial functioning was improved only by PD patients, but remained almost unchanged in the MSS group. However, there were no group differences concerning general depression and hypochondriasis, dysfunctional attitudes towards body and health, and use of pain coping strategies. It is concluded that the DSM-IV distinction between 'pure' pain disorder and syndromes involving pain plus multiple somatoform symptoms cannot generally be confirmed, but further studies of validation are needed. Copyright 2000 European Federation of Chapters of the International Association for the Study of Pain.

Association between environmental exposure to pesticides and neurodegenerative diseases

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

Parron, Tesifon; Andalusian Council of Health at Almeria province, Almeria; Requena, Mar

Preliminary studies have shown associations between chronic pesticide exposure in occupational settings and neurological disorders. However, data on the effects of long-term non-occupational exposures are too sparse to allow any conclusions. This study examines the influence of environmental pesticide exposure on a number of neuropsychiatric conditions and discusses their underlying pathologic mechanisms. An ecological study was conducted using averaged prevalence rates of Alzheimer's disease, Parkinson's disease, multiple sclerosis, cerebral degeneration, polyneuropathies, affective psychosis and suicide attempts in selected Andalusian health districts categorized into areas of high and low environmental pesticide exposure based on the number of hectares devoted to intensivemore » agriculture and pesticide sales per capita. A total of 17,429 cases were collected from computerized hospital records (minimum dataset) between 1998 and 2005. Prevalence rates and the risk of having Alzheimer's disease, Parkinson's disease, multiple sclerosis and suicide were significantly higher in districts with greater pesticide use as compared to those with lower pesticide use. The multivariate analyses showed that the population living in areas with high pesticide use had an increased risk for Alzheimer's disease and suicide attempts and that males living in these areas had increased risks for polyneuropathies, affective disorders and suicide attempts. In conclusion, this study supports and extends previous findings and provides an indication that environmental exposure to pesticides may affect the human health by increasing the incidence of certain neurological disorders at the level of the general population. -- Highlights: Black-Right-Pointing-Pointer Environmental exposure to pesticides and neurodegenerative-psychiatric disorders. Black-Right-Pointing-Pointer Increased risk for Alzheimer's disease and suicide attempts in high exposure areas. Black-Right-Pointing-Pointer Males from areas with high pesticide exposure had a higher risk of polyneuropathy. Black-Right-Pointing-Pointer Males from high exposure areas had a higher risk of affective psychosis and suicide. Black-Right-Pointing-Pointer Nerve tissue degeneration due to oxidative damage may underlie the pathomechanism.« less

Association between the dopamine D3 receptor gene locus (DRD3) and unipolar affective disorder.

PubMed

Dikeos, D G; Papadimitriou, G N; Avramopoulos, D; Karadima, G; Daskalopoulou, E G; Souery, D; Mendlewicz, J; Vassilopoulos, D; Stefanis, C N

1999-12-01

Dopamine neurotransmission has been implicated in the pathophysiology of schizophrenia and, more recently, affective disorders. Among the dopamine receptors, D3 can be considered as particularly related to affective disorders due to its neuroanatomical localization in the limbic region of the brain and its relation to the serotoninergic activity of the CNS. The possible involvement of dopamine receptor D3 in unipolar (UP) major depression was investigated by a genetic association study of the D3 receptor gene locus (DRD3) on 36 UP patients and 38 ethnically matched controls. An allelic association of DRD3 (Bal I polymorphism) and UP illness was observed, with the Gly-9 allele (allele '2', 206/98 base-pairs long) being more frequent in patients than in controls (49% vs 29%, P < 0.02). The genotypes containing this allele (1-2 and 2-2) were found in 75% of patients vs 50% of controls (P < 0.03, odds ratio = 3.00, 95% CI = 1.12-8.05). The effect of the genotype remained significant (P < 0.02) after sex and family history were controlled by a multiple linear regression analysis. These results further support the hypothesis that dopaminergic mechanisms may be implicated in the pathogenesis of affective disorder. More specifically, the '2' allele of the dopamine receptor D3 gene seems to be associated with unipolar depression and can be considered as a 'phenotypic modifier' for major psychiatric disorders.

The mechanisms of sirtuin 2-mediated exacerbation of alpha-synuclein toxicity in models of Parkinson disease

USDA-ARS?s Scientific Manuscript database

Sirtuin genes have been associated with aging and are known to affect multiple cellular pathways. Sirtuin 2 was previously shown to modulate proteotoxicity associated with age-associated neurodegenerative disorders such as Alzheimer and Parkinson disease (PD). However, the precise molecular mechanis...

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

PubMed Central

Elia, Josephine; Glessner, Joseph T; Wang, Kai; Takahashi, Nagahide; Shtir, Corina J; Hadley, Dexter; Sleiman, Patrick M A; Zhang, Haitao; Kim, Cecilia E; Robison, Reid; Lyon, Gholson J; Flory, James H; Bradfield, Jonathan P; Imielinski, Marcin; Hou, Cuiping; Frackelton, Edward C; Chiavacci, Rosetta M; Sakurai, Takeshi; Rabin, Cara; Middleton, Frank A; Thomas, Kelly A; Garris, Maria; Mentch, Frank; Freitag, Christine M; Steinhausen, Hans-Christoph; Todorov, Alexandre A; Reif, Andreas; Rothenberger, Aribert; Franke, Barbara; Mick, Eric O; Roeyers, Herbert; Buitelaar, Jan; Lesch, Klaus-Peter; Banaschewski, Tobias; Ebstein, Richard P; Mulas, Fernando; Oades, Robert D; Sergeant, Joseph; Sonuga-Barke, Edmund; Renner, Tobias J; Romanos, Marcel; Romanos, Jasmin; Warnke, Andreas; Walitza, Susanne; Meyer, Jobst; Pálmason, Haukur; Seitz, Christiane; Loo, Sandra K; Smalley, Susan L; Biederman, Joseph; Kent, Lindsey; Asherson, Philip; Anney, Richard J L; Gaynor, J William; Shaw, Philip; Devoto, Marcella; White, Peter S; Grant, Struan F A; Buxbaum, Joseph D; Rapoport, Judith L; Williams, Nigel M; Nelson, Stanley F; Faraone, Stephen V; Hakonarson, Hakon

2014-01-01

Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10−9). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10−6). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ~10% of the cases (P = 4.38 × 10−10) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts. PMID:22138692

Cannabidiol, neuroprotection and neuropsychiatric disorders.

PubMed

Campos, Alline C; Fogaça, Manoela V; Sonego, Andreza B; Guimarães, Francisco S

2016-10-01

Cannabidiol (CBD) is a non-psychotomimetic phytocannabinoid derived from Cannabis sativa. It has possible therapeutic effects over a broad range of neuropsychiatric disorders. CBD attenuates brain damage associated with neurodegenerative and/or ischemic conditions. It also has positive effects on attenuating psychotic-, anxiety- and depressive-like behaviors. Moreover, CBD affects synaptic plasticity and facilitates neurogenesis. The mechanisms of these effects are still not entirely clear but seem to involve multiple pharmacological targets. In the present review, we summarized the main biochemical and molecular mechanisms that have been associated with the therapeutic effects of CBD, focusing on their relevance to brain function, neuroprotection and neuropsychiatric disorders. Copyright © 2016. Published by Elsevier Ltd.

Endocannabinoid signalling and the deteriorating brain

PubMed Central

Di Marzo, Vincenzo; Stella, Nephi; Zimmer, Andreas

2015-01-01

Ageing is characterized by the progressive impairment of physiological functions and increased risk of developing debilitating disorders, including chronic inflammation and neurodegenerative diseases. These disorders have common molecular mechanisms that can be targeted therapeutically. In the wake of the approval of the first cannabinoid-based drug for the symptomatic treatment of multiple sclerosis, we examine how endocannabinoid (eCB) signalling controls — and is affected by — normal ageing and neuroinflammatory and neurodegenerative disorders. We propose a conceptual framework linking eCB signalling to the control of the cellular and molecular hallmarks of these processes, and categorize the key components of endocannabinoid signalling that may serve as targets for novel therapeutics. PMID:25524120

Psychosocial Intervention for Young Children With Chronic Tics

ClinicalTrials.gov

2018-06-18

Tourette's Syndrome; Tourette's Disorder; Tourette's Disease; Tourette Disorder; Tourette Disease; Tic Disorder, Combined Vocal and Multiple Motor; Multiple Motor and Vocal Tic Disorder, Combined; Gilles de La Tourette's Disease; Gilles de la Tourette Syndrome; Gilles De La Tourette's Syndrome; Combined Vocal and Multiple Motor Tic Disorder; Combined Multiple Motor and Vocal Tic Disorder; Chronic Motor and Vocal Tic Disorder

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. 

Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31.

PubMed

Bodea, Corneliu A; Middleton, Frank A; Melhem, Nadine M; Klei, Lambertus; Song, Youeun; Tiobech, Josepha; Marumoto, Pearl; Yano, Victor; Faraone, Stephen V; Roeder, Kathryn; Myles-Worsley, Marina; Devlin, Bernie; Byerley, William

2017-02-01

To localize genetic variation affecting risk for psychotic disorders in the population of Palau, we genotyped DNA samples from 203 Palauan individuals diagnosed with psychotic disorders, broadly defined, and 125 control subjects using a genome-wide single nucleotide polymorphism array. Palau has unique features advantageous for this study: due to its population history, Palauans are substantially interrelated; affected individuals often, but not always, cluster in families; and we have essentially complete ascertainment of affected individuals. To localize risk variants to genomic regions, we evaluated long-shared haplotypes, ≥10 Mb, identifying clusters of affected individuals who share such haplotypes. This extensive sharing, typically identical by descent, was significantly greater in cases than population controls, even after controlling for relatedness. Several regions of the genome exhibited substantial excess of shared haplotypes for affected individuals, including 3p21, 3p12, 4q28, and 5q23-q31. Two of these regions, 4q28 and 5q23-q31, showed significant linkage by traditional LOD score analysis and could harbor variants of more sizeable risk for psychosis or a multiplicity of risk variants. The pattern of haplotype sharing in 4q28 highlights PCDH10 , encoding a cadherin-related neuronal receptor, as possibly involved in risk.

Acquired pendular nystagmus

PubMed Central

Kang, Sarah; Shaikh, Aasef G.

2017-01-01

Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder. Here we review clinical features of neurological deficits that co-occur with acquired pendular nystagmus. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus. PMID:28320194

Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

PubMed Central

Dhawan, Naveen; Vohra, Shivani; Tu, Khin; Abdelmagid, Samir M.

2014-01-01

A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities. PMID:25530967

Evidence-based guideline: Assessment and management of psychiatric disorders in individuals with MS

PubMed Central

Minden, Sarah L.; Feinstein, Anthony; Kalb, Rosalind C.; Miller, Deborah; Mohr, David C.; Patten, Scott B.; Bever, Christopher; Schiffer, Randolph B.; Gronseth, Gary S.; Narayanaswami, Pushpa

2014-01-01

Objective: To make evidence-based recommendations for screening, diagnosing, and treating psychiatric disorders in individuals with multiple sclerosis (MS). Methods: We reviewed the literature (1950 to August 2011) and evaluated the available evidence. Results and recommendations: Clinicians may consider using the Center for Neurologic Study Emotional Lability Scale to screen for pseudobulbar affect (Level C). Clinicians may consider the Beck Depression Inventory and a 2-question tool to screen for depressive disorders and the General Health Questionnaire to screen for broadly defined emotional disturbances (Level C). Evidence is insufficient to support/refute the use of other screening tools, the possibility that somatic/neurovegetative symptoms affect these tools' accuracy, or the use of diagnostic instruments or clinical evaluation procedures for identifying psychiatric disorders in MS (Level U). Clinicians may consider a telephone-administered cognitive behavioral therapy program for treating depressive symptoms (Level C). Although pharmacologic and nonpharmacologic therapies are widely used to treat depressive and anxiety disorders in individuals with MS, evidence is insufficient to support/refute the use of the antidepressants and individual and group therapies reviewed herein (Level U). For pseudobulbar affect, a combination of dextromethorphan and quinidine may be considered (Level C). Evidence is insufficient to determine the psychiatric effects in individuals with MS of disease-modifying and symptomatic therapies and corticosteroids; risk factors for suicide; and treatment of psychotic disorders (Level U). Research is needed on the effectiveness in individuals with MS of pharmacologic and nonpharmacologic treatments frequently used in the non-MS population. PMID:24376275

Association Between Allergies and Psychiatric Disorders in Patients Undergoing Invasive Procedures.

PubMed

Aberle, Dwight; Wu, Stephanie E; Oklu, Rahmi; Erinjeri, Joseph; Deipolyi, Amy R

Associations between allergies and psychiatric disorders have been reported in the context of depression and suicide; psychiatric disorders may affect pain perception. To investigate the relationship of allergies with psychiatric disorders and pain perception in the context of invasive procedures, specifically during tunneled hemodialysis catheter placement. We identified 89 patients (51 men, 38 women), mean age 66 years (range: 23-96), who underwent tunneled hemodialysis catheter placement (1/2014-2/2015), recording numeric rating scale pain scores, medications, psychiatric history, allergies, and smoking status. Of 89 patients, 47 patients had no allergies, and 42 had ≥1 allergy. Patients with allergies were more likely to have a pre-existing psychiatric disorder compared to those without allergies, odds ratio 2.6 (95% CI: 1.0-6.8). Having allergies did not affect procedural sedation or postprocedural pain scores. Multiple logistic regression with age, sex, smoking, presence of allergies, psychiatric history, inpatient/outpatient status, procedure time, and procedural sedation administration as inputs and postprocedural pain as the outcome showed that the only independent predictor was receiving procedural sedation (P = 0.005). Findings corroborate anecdotal reports of allergies as a marker for psychiatric history. However, having allergies was not associated with increased pain or need for more sedation. Further studies could prospectively assess whether allergies and psychiatric disorders affect patient/doctor perceptions beyond pain during invasive procedures. Copyright © 2017 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Body image and eating disordered behavior in a community sample of Black and Hispanic women.

PubMed

Hrabosky, Joshua I; Grilo, Carlos M

2007-01-01

The current study examined body image concerns and eating disordered behaviors in a community sample of Black and Hispanic women. In addition, this study explored whether there are ethnic differences in the correlates or in the prediction of body image concerns. Participants were 120 (67 Black and 53 Hispanic) women who responded to advertisements to participate in a study of women and health. Participants completed a battery of established self-report measures to assess body image, eating disordered behaviors, and associated psychological domains. Black and Hispanic women did not differ significantly in their self-reports of body image, eating disordered behaviors, or associated psychological measures. Comparisons performed separately within both ethnic groups revealed significant differences by weight status, with a general graded patterning of greater concerns in obese than overweight than average weight groups. In terms of predicting body image, multiple regression analyses testing a number of variables, including BMI, performed separately for Black and Hispanic women revealed that eating concern and depressive affect were significant predictors of body image concern for both groups. Overall, Black and Hispanic women differed little in their self-reports of body image, eating-disordered features, and depressive affect. Higher weight was associated with a general pattern of increased body image concerns and features of eating disorders in both groups and with binge eating in Black women. Eating concerns and depressive affect emerged as significant independent predictors of body image for both ethnic groups.

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.

PubMed

Franić, Sanja; Groen-Blokhuis, Maria M; Dolan, Conor V; Kattenberg, Mathijs V; Pool, René; Xiao, Xiangjun; Scheet, Paul A; Ehli, Erik A; Davies, Gareth E; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K; Martin, Nicholas G; Hudziak, James J; van Beijsterveldt, Catherina E M; Swagerman, Suzanne C; Hulshoff Pol, Hilleke E; de Geus, Eco J C; Bartels, Meike; Ropers, H Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I

2015-10-01

Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits (eg, height). Extending the idea of a shared genetic basis between a Mendelian disorder and a classic polygenic trait, we performed an association study to examine the effect of 43 genes implicated in autosomal recessive cognitive disorders on intelligence in an unselected Dutch population (N=1316). Using both single-nucleotide polymorphism (SNP)- and gene-based association testing, we detected an association between intelligence and the genes of interest, with genes ELP2, TMEM135, PRMT10, and RGS7 showing the strongest associations. This is a demonstration of the relevance of genes implicated in monogenic disorders of intelligence to normal-range intelligence, and a corroboration of the utility of employing knowledge on monogenic disorders in identifying the genetic variability underlying complex traits.

Chronobiology of bipolar disorder: therapeutic implication.

PubMed

Dallaspezia, Sara; Benedetti, Francesco

2015-08-01

Multiple lines of evidence suggest that psychopathological symptoms of bipolar disorder arise in part from a malfunction of the circadian system, linking the disease with an abnormal internal timing. Alterations in circadian rhythms and sleep are core elements in the disorders, characterizing both mania and depression and having recently been shown during euthymia. Several human genetic studies have implicated specific genes that make up the genesis of circadian rhythms in the manifestation of mood disorders with polymorphisms in molecular clock genes not only showing an association with the disorder but having also been linked to its phenotypic particularities. Many medications used to treat the disorder, such as antidepressant and mood stabilizers, affect the circadian clock. Finally, circadian rhythms and sleep researches have been the starting point of the developing of chronobiological therapies. These interventions are safe, rapid and effective and they should be considered first-line strategies for bipolar depression.

IS GENERALIZED ANXIETY DISORDER AN ANXIETY OR MOOD DISORDER? CONSIDERING MULTIPLE FACTORS AS WE PONDER THE FATE OF GAD

PubMed Central

Mennin, Douglas S.; Heimberg, Richard G.; Fresco, David M.; Ritter, Michael R.

2016-01-01

Generalized anxiety disorder (GAD) and major depressive disorder (MDD) demonstrate a strong relationship to each other at both genotypic and phenotypic levels, and both demonstrate substantial loadings on a higher-order negative affectivity factor. On the basis of these findings, there have been a number of calls to reclassify GAD in the same category as MDD (the “distress disorders”). However, any consideration of the reclassification of GAD should also take into account a number of other factors not only related to GAD and MDD but also to the overlap of these disorders with other anxiety and mood disorders. First, GAD has established reliability and validity in its own right, and specific features (e.g., worry) may become obscured by attempts at reclassification. Second, examination of the nature of the overlap of GAD and MDD with each other and with other disorders suggests a more complex pattern of differences between these conditions than has been suggested (e.g., MDD has strong relationships with other anxiety disorders, and GAD may be more strongly related to fear than it may first appear). Third, although findings suggest that GAD and MDD may have overlapping heritable characteristics, other evidence suggests that the two disorders may be distinguished by both environmental factors and temporal presentations. Finally, although overlap between GAD and MDD is reflected in their relationships to negative affectivity, temporal relationships between these disorders may be demonstrated by functional changes in emotional responsivity. PMID:18412056

Orthodontic treatment for a patient with multiple sclerosis

PubMed Central

Bakathir, Manal A

2017-01-01

Multiple sclerosis (MS) is a chronic, autoimmune inflammatory disorder of the central nervous system (CNS) that affects myelinated axons, destroying the myelin and damaging axons to varying degrees. The course of MS is highly varied and unpredictable. Metals used during orthodontic treatment can negatively affect imaging techniques used to diagnose and monitor the progression of MS, while medications used to treat MS can negatively affect orthodontic tooth movement. The present case report highlights some of the challenges encountered during orthodontic treatment of a patient with MS and how to overcome them. The patient was a 20-year-old woman with complaints of diastema and spacing in the upper arch. Although closing the spaces was challenging due to some of the MS medications, she was treated successfully, without complications, within 20 months using closing loops. PMID:28717636

A Preliminary Efficacy and Feasibility of an Obstructive Sleep Apnea Educational Intervention in Oman

ERIC Educational Resources Information Center

Al Mezeini, Khamis Abdallah

2017-01-01

Background: Obstructive sleep apnea (OSA) is chronic disorder that contributes to multiple physiological and psychological conditions. Obstructive sleep apnea contributes to high rates of morbidity and mortality and has substantial impacts on both health care costs and the quality of life for affected individuals and their families. Healthcare…

Effects of Semantic Ambiguity Detection Training on Reading Comprehension Achievement of English Learners with Learning Difficulties

ERIC Educational Resources Information Center

Jozwik, Sara L.; Douglas, Karen H.

2016-01-01

This study examined how explicit instruction in semantic ambiguity detection affected the reading comprehension and metalinguistic awareness of five English learners (ELs) with learning difficulties (e.g., attention deficit/hyperactivity disorder, specific learning disability). A multiple probe across participants design (Gast & Ledford, 2010)…

Acute myelofibrosis and acute lymphoblastic leukemia in an elderly patient with previously treated multiple myeloma.

PubMed

Gonzalez, Maria M; Kidd, Laura; Quesada, Jorge; Nguyen, Nghia; Chen, Lei

2013-01-01

Multiple myeloma (MM) is a plasma cell neoplasm involving the bone marrow with organ damage and/or a monoclonal protein (M-spike in the serum and/or urine). This neoplasm typically affects adults over the age of 50. Acute lymphoblastic leukemia (ALL) is a hematological disorder involving at least 20% lymphoblasts in the bone marrow of the B-cell lineage. Acute lymphoblastic leukemia most commonly affects young children with 75% of cases occurring in children less than 6 years old. This case report describes a patient diagnosed with MM in 2000 who achieved a complete remission in 2006 after chemotherapy. Four years later, the patient presented with sudden pancytopenia. A bone marrow biopsy was obtained revealing a B lymphoblastic leukemia in an extensively fibrotic marrow without evidence of MM. A diagnosis of ALL with myelofibrosis is rare in the adult population, acute myelofibrosis (AMF) is more commonly associated with myeloproliferative disorders, and the development of acute leukemia in myeloma is rare. To the best of our knowledge, the presence of MM, ALL, and myelofibrosis in one patient has never been reported.

Pseudobulbar affect in multiple sclerosis: toward the development of innovative therapeutic strategies.

PubMed

Miller, Ariel

2006-06-15

Pseudobulbar affect (PBA), a condition involving involuntary and uncontrollable episodes of crying and/or laughing, occurs frequently in patients with a variety of neurological disorders, including amyotrophic lateral sclerosis (ALS), stroke, traumatic brain injury, dementia including Alzheimer's disease, and multiple sclerosis (MS). Although PBA results in considerable distress for patients and caretakers, it is underrecognized and undertreated. Agents used to treat psychiatric disorders--particularly tricyclic antidepressants and selective serotonin reuptake inhibitors--are useful in alleviating PBA, but act on diffuse neural networks rather than targeting those involved in emotional motor expression. As a result of their nonspecific activity, these agents are associated with a range of unwanted effects that preclude many patients from using them. Dextromethorphan, a common cough suppressant, specifically targets sigma(1) receptors concentrated in the brainstem and cerebellum, thus providing the possibility of targeting regions implicated in emotional expression. When administered in a fixed combination with quinidine, dextromethorphan is effective in treating PBA in patients with ALS, and preliminary results suggest that this therapy also is effective in treating MS-related PBA.

Neurocutaneous Disorders.

PubMed

Rosser, Tena

2018-02-01

This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Neurologists require a basic knowledge of and familiarity with a wide variety of neurocutaneous disorders because of the frequent involvement of the central and peripheral nervous systems. A simple routine skin examination can often open a broad differential diagnosis and lead to improved patient care.

Lifetime history of traumatic events in an American Indian community sample: heritability and relation to substance dependence, affective disorder, conduct disorder and PTSD.

PubMed

Ehlers, Cindy L; Gizer, Ian R; Gilder, David A; Yehuda, Rachael

2013-02-01

American Indians appear to experience a higher rate of traumatic events than what has been reported in general population surveys. American Indians also suffer higher alcohol related death rates than any other ethnic group in the U.S. population. Therefore efforts to delineate factors which may uniquely contribute to increased likelihood of trauma, post traumatic stress disorder (PTSD), and substance use disorders (SUD) over the lifetime in American Indians are important because of the high burden of morbidity and mortality that they pose to American Indian communities. Participants were American Indians recruited from reservations that were assessed with the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA), family history assessment and the stressful-life-events scale. Of the 309 participants, equivalent numbers of men and women (94%) reported experiencing traumas; however, a larger proportion of women received a PTSD diagnosis (38%) than men (29%). Having experienced multiple trauma and sexual abuse were most highly associated with PTSD. Having experienced assaultive trauma and having PTSD symptoms were both found to be moderately heritable (30-50%). Logistic regression revealed that having an anxiety and/or affective disorder and having a substance dependent diagnosis, but not having antisocial personality disorder/conduct disorder, were significantly correlated with having a diagnosis of PTSD. These studies suggest that trauma is highly prevalent in this American Indian community, it is heritable, is associated with PTSD, affective/anxiety disorders and substance dependence. Additionally, trauma, PTSD and substance dependence appear to all co-emerge in early adulthood in this high-risk population. Copyright © 2012 Elsevier Ltd. All rights reserved.

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

PubMed Central

Superti-Furga, A.; Neumann, L.; Riebel, T.; Eich, G.; Steinmann, B.; Spranger, J.; Kunze, J.

1999-01-01

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
  Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.


Keywords: multiple epiphyseal dysplasia; DTDST; double layered patella PMID:10465113

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

PubMed

Ali, Muhammad Umar; Rahman, Muhammad Saif Ur; Cao, Jiang; Yuan, Ping Xi

2017-08-01

Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner. To date 58 genes have been reported to associate with retinitis pigmentosa most of them are either expressed in photoreceptors or the retinal pigment epithelium. This review focuses on the disease mechanisms and genetics of retinitis pigmentosa. As retinitis pigmentosa is tremendously heterogeneous disorder expressing a multiplicity of mutations; different variations in the same gene might induce different disorders. In recent years, latest technologies including whole-exome sequencing contributing effectively to uncover the hidden genesis of retinitis pigmentosa by reporting new genetic mutations. In future, these advancements will help in better understanding the genotype-phenotype correlations of disease and likely to develop new therapies.

Comparative analysis of affective temperament in patients with difficult-to-treat and easy-to-treat major depression and bipolar disorder: Possible application in clinical settings.

PubMed

Takeshima, Minoru; Oka, Takashi

2016-04-01

Difficult-to-treat major depressive disorder (MDD-DT), which involves antidepressant refractoriness or antidepressant-related adverse psychiatric effects, is bipolar in nature; therefore, it may share common temperamental features with bipolar disorder. To examine this hypothesis, affective temperament was compared between MDD-DT, easy-to-treat major depressive disorder (MDD-ET), and bipolar disorder. Affective temperament was measured in 320 patients (69, 56, and 195 with MDD-ET, MDD-DT, and bipolar disorder, respectively) using the self-rated questionnaire version of the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego (TEMPS-A), with between-group differences examined using multiple logistic regression analysis controlling for confounders. Optimal cut-off points for TEMPS-A scores to discriminate between diagnostic groups were determined using receiver-operating characteristic analysis. Of the five temperamental domains, the mode for cyclothymic temperament score was highest, followed by those of bipolar disorder, MDD-DT, and MDD-ET. The cyclothymic temperament score discriminated significantly between bipolar disorder and MDD-DT (odds ratio [OR]: 1.12, 95% confidence interval [CI]: 1.04-1.20, p=0.0022), MDD-DT and MDD-ET (OR: 1.15, 95% CI: 1.01-1.31, p=0.0334), and bipolar and major depressive disorders (OR: 1.17, 95% CI: 1.07-1.28, p=0.0003). Optimal cut-off points for the cyclothymic temperament scores to discriminate between bipolar disorder and major depressive disorder and MDD-DT and MDD-ET were 9 (sensitivity: 64.6%, specificity: 76.0%) and 6 (66.1%, 62.3%), respectively. MDD-DT has a quantitatively stronger bipolar temperamental feature, cyclothymic temperament, relative to that of MDD-ET. Cut-off points determined in this study could be clinically helpful. Because of our study design, longitudinal changes in temperamental scores during treatment cannot be fully excluded. Copyright © 2016 Elsevier Inc. All rights reserved.

Acquired pendular nystagmus.

PubMed

Kang, Sarah; Shaikh, Aasef G

2017-04-15

Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder. Here we review clinical features of neurological deficits that co-occur with acquired pendular nystagmus. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus. Copyright © 2017 Elsevier B.V. All rights reserved.

Was it something I did wrong? A qualitative analysis of parental perspectives of their child's bipolar disorder.

PubMed

Crowe, M; Inder, M; Joyce, P; Luty, S; Moor, S; Carter, J

2011-05-01

The aims of this study were to examine parental views on the onset of symptoms, impact on functioning and meanings attributed to their child's bipolar disorder. Early onset bipolar disorder impacts on development and functioning across multiple domains. Psychosocial disability fluctuates in parallel with changes in affective symptoms and may significantly affect family members. This study utilized descriptive statistical data and qualitative data from parental self-reports of 85 participants in a trial of psychotherapy for young people (15-34 years) with bipolar disorder. A content analysis was conducted on the written self-reports. Most parents identified the onset of depressive symptoms in their child by early adolescence, but it was not until late adolescence, or later, that parents noted symptoms of mania. The onset of symptoms during a crucial period of development had a considerable impact on social and occupational functioning. Without prompting, the parents took the opportunity to attempt to make sense of the diagnosis by attributing its onset to childhood adversity, parenting or substance misuse. Parents often blame themselves for the development of bipolar disorder in their child. Nursing care for clients with bipolar disorder could include interventions for the family to help them understand and manage the disorder. Such interventions could include: psycho-education, communication enhancement and problem-solving skills training. © 2011 Blackwell Publishing.

The BTBR mouse model of idiopathic autism – current view on mechanisms

PubMed Central

Meyza, K. Z.; Blanchard, D. C.

2017-01-01

Autism spectrum disorder (ASD) is the most commonly diagnosed neurodevelopmental disorder, with current estimates of more than 1% of affected children across nations. The patients form a highly heterogeneous group with only the behavioral phenotype in common. The genetic heterogeneity is reflected in a plethora of animal models representing multiple mutations found in families of affected children. Despite many years of scientific effort, for the majority of cases the genetic cause remains elusive. It is therefore crucial to include well-validated models of idiopathic autism in studies searching for potential therapeutic agents. One of these models is the BTBR T+Itpr3tf/J mouse. The current review summarizes data gathered in recent research on potential molecular mechanisms responsible for the autism-like behavioral phenotype of this strain. PMID:28167097

Novel Variants in ZNF34 and Other Brain-Expressed Transcription Factors are Shared Among Early-Onset MDD Relatives

PubMed Central

Subaran, Ryan L.; Odgerel, Zagaa; Swaminathan, Rajeswari; Glatt, Charles E.; Weissman, Myrna M.

2018-01-01

There are no known genetic variants with large effects on susceptibility to major depressive disorder (MDD). Although one proposed study approach is to increase sensitivity by increasing sample sizes, another is to focus on families with multiple affected individuals to identify genes with rare or novel variants with strong effects. Choosing the family-based approach, we performed whole-exome analysis on affected individuals (n = 12) across five MDD families, each with at least five affected individuals, early onset, and prepubertal diagnoses. We identified 67 genes where novel deleterious variants were shared among affected relatives. Gene ontology analysis shows that of these 67 genes, 18 encode transcriptional regulators, eight of which are expressed in the human brain, including four KRAB-A box-containing Zn2+ finger repressors. One of these, ZNF34, has been reported as being associated with bipolar disorder and as differentially expressed in bipolar disorder patients compared to healthy controls. We found a novel variant—encoding a non-conservative P17R substitution in the conserved repressor domain of ZNF34 protein—segregating completely with MDD in all available individuals in the family in which it was discovered. Further analysis showed a common ZNF34 coding indel segregating with MDD in a separate family, possibly indicating the presence of an unobserved, linked, rare variant in that particular family. Our results indicate that genes encoding transcription factors expressed in the brain might be an important group of MDD candidate genes and that rare variants in ZNF34 might contribute to susceptibility to MDD and perhaps other affective disorders. PMID:26823146

[Genetic and neuroendocrine aspects in autism spectrum disorder].

PubMed

Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

The autism spectrum disorder (ASD) was described in 1943 and is defined as a developmental disorder that affects social interaction and communication. It is usually identified in early stages of development from 18 months of age. Currently, autism is considered a neurological disorder with a spectrum covering cases of different degrees, which is associated with genetic factors, not genetic and environmental. Among the genetic factors, various syndromes have been described that are associated with this disorder. Also, the neurobiology of autism has been studied at the genetic, neurophysiological, neurochemical and neuropathological levels. Neuroimaging techniques have shown multiple structural abnormalities in these patients. There have also been changes in the serotonergic, GABAergic, catecholaminergic and cholinergic systems related to this disorder. This paper presents an update of the information presented in the genetic and neuroendocrine aspects of autism spectrum disorder. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

The Cerebellum and Neurodevelopmental Disorders.

PubMed

Stoodley, Catherine J

2016-02-01

Cerebellar dysfunction is evident in several developmental disorders, including autism, attention deficit-hyperactivity disorder (ADHD), and developmental dyslexia, and damage to the cerebellum early in development can have long-term effects on movement, cognition, and affective regulation. Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. Differences in cerebellar development and/or early cerebellar damage could impact a wide range of behaviors via the closed-loop circuits connecting the cerebellum with multiple cerebral cortical regions. Based on these anatomical circuits, behavioral outcomes should depend on which cerebro-cerebellar circuits are affected. Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical outcomes following pediatric cerebellar damage. These data confirm the prediction that abnormalities in different cerebellar subregions produce behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. These circuits might also be crucial to structural brain development, as peri-natal cerebellar lesions have been associated with impaired growth of the contralateral cerebral cortex. The specific contribution of the cerebellum to typical development may therefore involve the optimization of both the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains; when this process is disrupted, particularly in early development, there could be long-term alterations of these neural circuits, with significant impacts on behavior.

The cerebellum and neurodevelopmental disorders

PubMed Central

Stoodley, Catherine J.

2015-01-01

Cerebellar dysfunction is evident in several developmental disorders, including autism, attention deficit hyperactivity disorder (ADHD), and developmental dyslexia, and damage to the cerebellum early in development can have long-term effects on movement, cognition, and affective regulation. Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. Differences in cerebellar development and/or early cerebellar damage could impact a wide range of behaviors via the closed-loop circuits connecting the cerebellum with multiple cerebral cortical regions. Based on these anatomical circuits, behavioral outcomes should depend on which cerebro-cerebellar circuits are affected. Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical outcomes following pediatric cerebellar damage. These data confirm the prediction that abnormalities in different cerebellar subregions produce behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. These circuits might also be crucial to structural brain development, as peri-natal cerebellar lesions have been associated with impaired growth of the contralateral cerebral cortex. The specific contribution of the cerebellum to typical development may therefore involve the optimization of both the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains; when this process is disrupted, particularly in early development, there could be long-term alterations of these neural circuits, with significant impacts on behavior. PMID:26298473

Basic pharmacology of NMDA receptors.

PubMed

Gonda, Xenia

2012-01-01

NMDA receptors are ionotropic receptors mediating glutamatergic neurotransmission and play a role in several basic functions in the central nervous system, from regulating neurodevelopment and synaptic plasticity, learning and memory formation, cognitive processes, rhythm generation necessary for locomotor activity and breathing, and excitotoxicity. Due to their complex involvement in the above processes, NMDA receptors have been established to play a role in the etiopathology of several neuropsychiatric disorders such as ischaemia and traumatic brain injury, neurodegenerative disorders, pain syndromes, addiction, affective disorders and such neurodevelopmental disorders as autism or schizophrenia. NMDA receptors contain multiple types of subunits with distinct functional and pharmacological properties making the picture more complex. These receptors also offer multiple binding sites to be targeted with pharmacons, however, early broad-spectrum NMDA receptor antagonists had limited clinical use due to their intolerable adverse effect profile. The discovery of several types of subunit selective NMDA receptor antagonists may offer valuable therapeutic possibilities for several disorders, with improved clinical efficacy and decreased side effects. However, in spite of our increasing knowledge concerning the involvement of NMDA receptors in pathological processes, molecules with a selective action, tolerable side effect profile and good clinical efficacy are still only in clinical development in the majority of cases. Nevertheless, NMDA receptors offer a novel opportunity in the treatment of various neuropsychiatric conditions.

Disorders of the lower cranial nerves

PubMed Central

Finsterer, Josef; Grisold, Wolfgang

2015-01-01

Lesions of the lower cranial nerves (LCN) are due to numerous causes, which need to be differentiated to optimize management and outcome. This review aims at summarizing and discussing diseases affecting LCN. Review of publications dealing with disorders of the LCN in humans. Affection of multiple LCN is much more frequent than the affection of a single LCN. LCN may be affected solely or together with more proximal cranial nerves, with central nervous system disease, or with nonneurological disorders. LCN lesions have to be suspected if there are typical symptoms or signs attributable to a LCN. Causes of LCN lesions can be classified as genetic, vascular, traumatic, iatrogenic, infectious, immunologic, metabolic, nutritional, degenerative, or neoplastic. Treatment of LCN lesions depends on the underlying cause. An effective treatment is available in the majority of the cases, but a prerequisite for complete recovery is the prompt and correct diagnosis. LCN lesions need to be considered in case of disturbed speech, swallowing, coughing, deglutition, sensory functions, taste, or autonomic functions, neuralgic pain, dysphagia, head, pharyngeal, or neck pain, cardiac or gastrointestinal compromise, or weakness of the trapezius, sternocleidomastoid, or the tongue muscles. To correctly assess manifestations of LCN lesions, precise knowledge of the anatomy and physiology of the area is required. PMID:26167022

A Review of Cardiac Autonomic Measures: Considerations for Examination of Physiological Response in Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Benevides, Teal W.; Lane, Shelly J.

2015-01-01

The autonomic nervous system (ANS) is responsible for multiple physiological responses, and dysfunction of this system is often hypothesized as contributing to cognitive, affective, and behavioral responses in children. Research suggests that examination of ANS activity may provide insight into behavioral dysregulation in children with autism…

Identification and Intervention for Students Who Are Visually Impaired and Who Have Autism Spectrum Disorders

ERIC Educational Resources Information Center

Li, Alicia

2009-01-01

At least 60% of children with disabilities have multiple disabilities including visual impairments (VI). Because the visual system is neurologically based, any problems of the neurological system will also likely affect vision. The estimated number of students with VI and additional disabilities has increased significantly over the years. Since…

The facial nerve: anatomy and associated disorders for oral health professionals.

PubMed

Takezawa, Kojiro; Townsend, Grant; Ghabriel, Mounir

2018-04-01

The facial nerve, the seventh cranial nerve, is of great clinical significance to oral health professionals. Most published literature either addresses the central connections of the nerve or its peripheral distribution but few integrate both of these components and also highlight the main disorders affecting the nerve that have clinical implications in dentistry. The aim of the current study is to provide a comprehensive description of the facial nerve. Multiple aspects of the facial nerve are discussed and integrated, including its neuroanatomy, functional anatomy, gross anatomy, clinical problems that may involve the nerve, and the use of detailed anatomical knowledge in the diagnosis of the site of facial nerve lesion in clinical neurology. Examples are provided of disorders that can affect the facial nerve during its intra-cranial, intra-temporal and extra-cranial pathways, and key aspects of clinical management are discussed. The current study is complemented by original detailed dissections and sketches that highlight key anatomical features and emphasise the extent and nature of anatomical variations displayed by the facial nerve.

Crying and suicidal, but not depressed. Pseudobulbar affect in multiple sclerosis successfully treated with valproic acid: Case report and literature review.

PubMed

Johnson, Bridgette; Nichols, Scott

2015-12-01

Pseudobulbar affect/emotional incontinence is a potentially disabling condition characterized by expressions of affect or emotions out of context from the normal emotional basis for those expressions. This condition can result in diagnostic confusion and unrelieved suffering when clinicians interpret the emotional expressions at face value. In addition, the nomenclature, etiology, and treatment for this condition remain unclear in the medical literature. We report the case of a 60-year-old woman with multiple sclerosis who was referred to an inpatient psychiatry unit with complaints of worsening depression along with hopelessness, characterized by unrelenting crying. Our investigation showed that her symptoms were caused by pseudobulbar affect/emotional incontinence stemming from multiple sclerosis. The patient's history of multiple sclerosis and the fact that she identified herself as depressed only because of her incessant crying suggested that her symptoms might be due to the multiple sclerosis rather than to a depressive disorder. Magnetic resonance imaging demonstrated a new plaque consistent with multiple sclerosis lateral to her corpus callosum. Her symptoms resolved completely within three days on valproic acid but returned after she was cross-tapered to dextromethorphan plus quinidine, which is the FDA-approved treatment for this condition. This case provides important additional information to the current literature on pseudobulbar affect/emotional incontinence. The existing literature suggests a selective serotonin reuptake inhibitor (SSRI) and dextromethorphan/quinidine (Nuedexta) as first-line treatments; however, our patient was taking an SSRI at the time of presentation without appreciable benefit, and her symptoms responded to valproic acid but not to the dextromethorphan/quinidine. In addition, the case and the literature review suggest that the current nomenclature for this constellation of symptoms can be misleading.

Components of self-esteem in affective patients and non-psychiatric controls.

PubMed

Serretti, Alessandro; Olgiati, Paolo; Colombo, Cristina

2005-09-01

Decrease in self-esteem (SE) is found in all mood disorders during inter-episode phases. This trait was associated with relapse and suicidality but its genetic basis is still undefined, probably because SE has multiple components. The aim of the current study was to ascertain which of those components were altered in a sample of affective patients. Three hundred and thirty-one outpatients with bipolar (N=199) and major depressive MD (N=132) disorders in remission for at least three months and one hundred controls completed the Rosenberg Self-esteem Scale (RSE; [Rosenberg, M., 1965. The measurement of self-esteem, Society and the Adolescent Self-Image. Princeton University Press, pp.16-36]). Principal component analysis was performed to identify RSE factor structure. Extracted factors were compared across case and control groups in the whole sample (N=431) and in a sub-sample (N=301) with low self-esteem (RSE <20). PCA yielded a two-factor solution with self-confidence (SC) and self-deprecation (SD) that was largely consistent with the existing literature. Such factors were both associated with lower scores in affective patients than controls (SC: F=52, p<0.01; SD: F=43, p<0.01). However in the low RSE group only self-confidence was found to be decreased in subjects with mood disorders (SC: F=13.8, p<0.01; SD: F=0.05, p=0.9). These findings suggest that self-esteem deficit in affective disorders might involve specific components. Implications for research and clinical practice are discussed.

Prospective predictors of adolescent suicidality: 6-month post-hospitalization follow-up

PubMed Central

Yen, S.; Weinstock, L. M.; Andover, M. S.; Sheets, E. S.; Selby, E. A.; Spirito, A.

2013-01-01

Background The aim of this study was to examine prospective predictors of suicide events, defined as suicide attempts or emergency interventions to reduce suicide risk, in 119 adolescents admitted to an in-patient psychiatric unit for suicidal behaviors and followed naturalistically for 6 months. Method Structured diagnostic interviews and self-report instruments were administered to adolescent participants and their parent(s) to assess demographic variables, history of suicidal behavior, psychiatric disorders, family environment and personality/temperament. Results Baseline variables that significantly predicted time to a suicide event during follow-up were Black race, high suicidal ideation in the past month, post-traumatic stress disorder (PTSD), childhood sexual abuse (CSA), borderline personality disorder (BPD), low scores on positive affectivity, and high scores on aggression. In a multivariate Cox regression analysis, only Black race, CSA, positive affect intensity and high aggression scores remained significant. Conclusions Our findings suggest the following for adolescent populations: (1) in a very high-risk population, risk factors for future attempts may be more difficult to ascertain and some established risk factors (e.g. past suicide attempt) may not distinguish as well; and (2) cross-cutting constructs (e.g. affective and behavioral dysregulation) that underlie multiple psychiatric disorders may be stronger predictors of recurrent suicide events than psychiatric diagnoses. Our finding with respect to positive affect intensity is novel and may have practical implications for the assessment and treatment of adolescent suicide attempters. PMID:22932393

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

PubMed Central

Leshinsky-Silver, Esther; Malinger, Gustavo; Ben-Sira, Liat; Kidron, Dvora; Cohen, Sarit; Inbar, Shani; Bezaleli, Tali; Levine, Arie; Vinkler, Chana; Lev, Dorit; Lerman-Sagie, Tally

2011-01-01

Aicardi–Goutiéres syndrome (AGS) is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Five causative genes have been described: three prime repair exonuclease1 (TREX1), ribonucleases H2A, B and C, and most recently SAM domain and HD domain 1 (SAMHD1). We performed a detailed clinical and molecular characterization of a family with autosomal recessive neurodegenerative disorder showing white matter destruction and calcifications, presenting in utero and associated with multiple mtDNA deletions. A muscle biopsy was normal and did not show any evidence of respiratory chain dysfunction. Southern blot analysis of tissue from a living child and affected fetuses demonstrated multiple mtDNA deletions. Molecular analysis of genes involved in mtDNA synthesis and maintenance (POLGα, POLGβ, Twinkle, ANT1, TK2, SUCLA1 and DGOUK) revealed normal sequences. Sequencing of TREX1 and ribonucleases H2A, B and C failed to reveal any mutations. Whole-genome homozygosity mapping revealed a candidate region containing the SAMHD1 gene. Sequencing of the gene in the affected child and two affected fetuses revealed a large deletion (9 kb), spanning the promoter, exon1 and intron 1. The parents were found to be heterozygous for this deletion. The identification of a homozygous large deletion in the SAMHD1 gene causing atypical AGS with multiple mtDNA deletions may add information regarding the involvement of mitochondria in self-activation of innate immunity by cell intrinsic components. PMID:21102625

Evidence-based guideline: assessment and management of psychiatric disorders in individuals with MS: report of the Guideline Development Subcommittee of the American Academy of Neurology.

PubMed

Minden, Sarah L; Feinstein, Anthony; Kalb, Rosalind C; Miller, Deborah; Mohr, David C; Patten, Scott B; Bever, Christopher; Schiffer, Randolph B; Gronseth, Gary S; Narayanaswami, Pushpa

2014-01-14

To make evidence-based recommendations for screening, diagnosing, and treating psychiatric disorders in individuals with multiple sclerosis (MS). We reviewed the literature (1950 to August 2011) and evaluated the available evidence. Clinicians may consider using the Center for Neurologic Study Emotional Lability Scale to screen for pseudobulbar affect (Level C). Clinicians may consider the Beck Depression Inventory and a 2-question tool to screen for depressive disorders and the General Health Questionnaire to screen for broadly defined emotional disturbances (Level C). Evidence is insufficient to support/refute the use of other screening tools, the possibility that somatic/neurovegetative symptoms affect these tools' accuracy, or the use of diagnostic instruments or clinical evaluation procedures for identifying psychiatric disorders in MS (Level U). Clinicians may consider a telephone-administered cognitive behavioral therapy program for treating depressive symptoms (Level C). Although pharmacologic and nonpharmacologic therapies are widely used to treat depressive and anxiety disorders in individuals with MS, evidence is insufficient to support/refute the use of the antidepressants and individual and group therapies reviewed herein (Level U). For pseudobulbar affect, a combination of dextromethorphan and quinidine may be considered (Level C). Evidence is insufficient to determine the psychiatric effects in individuals with MS of disease-modifying and symptomatic therapies and corticosteroids; risk factors for suicide; and treatment of psychotic disorders (Level U). Research is needed on the effectiveness in individuals with MS of pharmacologic and nonpharmacologic treatments frequently used in the non-MS population.

Differential diagnosis in hypersomnia.

PubMed

Dauvilliers, Yves

2006-03-01

Hypersomnia includes a group of disorders in which the primary complaint is excessive daytime sleepiness. Chronic hypersomnia is characterized by at least 3 months of excessive sleepiness prior to diagnosis and may affect 4% to 6% of the population. The severity of daytime sleepiness needs to be quantified by subjective scales (at least the Epworth sleepiness scale) and objective tests such as the multiple sleep latency test. Chronic hypersomnia does not correspond to an individual clinical entity but includes numerous different etiologies of hypersomnia as recently reported in the revised International Classification of Sleep Disorders. This review details most of those disorders, including narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time, recurrent hypersomnia, behaviorally induced insufficient sleep syndrome, hypersomnia due to medical condition, hypersomnia due to drug or substance, hypersomnia not due to a substance or known physiologic condition, and also sleep-related disordered breathing and periodic leg movement disorders.

How Does Difficulty Communicating Affect the Social Relationships of Older Adults? An Exploration Using Data from a National Survey

PubMed Central

Palmer, Andrew D.; Newsom, Jason T.; Rook, Karen S.

2016-01-01

Healthy social relationships are important for maintaining mental and physical health in later life. Less social support, smaller social networks, and more negative social interactions have been linked to depression, poorer immune functioning, lower self-rated health, increased incidence of disease, and higher mortality. Overwhelming evidence suggests that communication disorders adversely affect social relationships. Much less is known about whether some or all aspects of social relationships are negatively affected by a communication disorder. The relative impact of a communication disorder on social relationships, as compared to other kinds of disability, is also poorly understood. Data were analyzed from a representative national sample of community-dwelling adults aged 65 and older living in the continental United States (n = 742). Results from multiple regressions indicated that difficulty communicating was significantly associated with several parameters of social relationships even after controlling for age, gender, partnership status, health, functional limitations, and visual impairment. Communication difficulty was a significant predictor of smaller social network size, fewer positive social exchanges, less frequent participation in social activities, and higher levels of loneliness, but was not a significant predictor of negative social exchanges. These findings suggest that communication disorders may place older adults at increased risk for mental and physical health problems because of social isolation, reduced social participation, and higher rates of loneliness. In addition, it appears that communication disorders may have a greater impact on positive, rather than negative, aspects of social relationships. PMID:27420152

Association between quality of life and self-stigma, insight, and adverse effects of medication in patients with depressive disorders.

PubMed

Yen, Cheng-Fang; Chen, Cheng-Chung; Lee, Yu; Tang, Tze-Chun; Ko, Chih-Hung; Yen, Ju-Yu

2009-01-01

The aims of this study were to examine whether different domains of quality of life (QOL) are differently affected by depressive disorders by comparing QOL of subjects with and without depressive disorders, and to examine the association of QOL with self-stigma, insight and adverse effects of medication among subjects with depressive disorders. The QOL on the four domains of the WHOQOL-BREF Taiwan version were compared between the 229 subjects with depressive disorders and 106 control subjects. Among the depressive subjects, the association between the four QOL domains and subjects' self-stigma, insight, and adverse effects of medication were examined using multiple regression analyses by controlling for the influence of depression, socio-demographic and clinical characteristics and family function. Depressive subjects had poorer QOL on the physical, psychological and social relationship domains than the non-depressive control group. The depressive subjects who had more severe self-stigma had poorer QOL on all four domains. The depressive subjects who perceived more severe adverse effects from medication had poorer QOL on the physical, psychological and environmental domains. However, insight was not associated with any domain of QOL in patients with depressive disorders. The results of this study demonstrate that different domains of QOL are differently affected by depressive disorders, and that clinicians must consider the negative influences of self-stigma and adverse effects from medication on QOL of subjects with depressive disorders.

Post-traumatic stress disorder.

PubMed

Bisson, Jonathan I

2007-08-01

Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and psychiatric or personality factors. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent; and to treat PTSD? We searched: Medline, Embase, The Cochrane Library and other important databases up to December 2006 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 36 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management, antiepileptic drugs, antihypertensive drugs, benzodiazepines, brofaromine, carbamazepine, CBT, drama therapy, eye movement desensitisation and reprocessing, fluoxetine, group therapy, hydrocortisone, hypnotherapy, inpatient treatment programmes, internet-based psychotherapy, mirtazepine, multiple-session CBT, multiple-session collaborative trauma support, multiple-session education, nefazodone, olanzapine, paroxetine, phenelzine, propranolol, psychodynamic psychotherapy, risperidone, SSRIss, sertraline, single-session group debriefing, single-session individual debriefing, supportive psychotherapy, supportive counselling, temazepam, tricyclic antidepressants, venlafaxine.

Medication effects on sleep and breathing.

PubMed

Seda, Gilbert; Tsai, Sheila; Lee-Chiong, Teofilo

2014-09-01

Sleep respiration is regulated by circadian, endocrine, mechanical and chemical factors, and characterized by diminished ventilatory drive and changes in Pao2 and Paco2 thresholds. Hypoxemia and hypercapnia are more pronounced during rapid eye movement. Breathing is influenced by sleep stage and airway muscle tone. Patient factors include medical comorbidities and body habitus. Medications partially improve obstructive sleep apnea and stabilize periodic breathing at altitude. Potential adverse consequences of medications include precipitation or worsening of disorders. Risk factors for adverse medication effects include aging, medical disorders, and use of multiple medications that affect respiration. Published by Elsevier Inc.

Case report of a patient with 'one-and-a-half plus syndrome: nine syndrome'.

PubMed

Uthman, Muhammad; Kamran, Mehreen

2018-01-01

This case talks about 'One-and-a-half plus syndrome', a clinical syndrome affecting binocular vision and facial nerve. One-and-a-half plus syndrome is a less known clinical syndrome which constitutes of a conjugate horizontal gaze palsy in one direction and an internuclear ophthalmoplegia in the other direction. Despite the known association between ischemia, autoimmune disorders, multiple sclerosis, with mono neuritis multiplex resulting in extra ocular movement disorder, one-and-a-half plus syndrome is rarely considered in the differential diagnosis of eye ball movement disorders, as many clinicians are not able to diagnose such a case as ' the eyes don't see what the mind doesn't know'. Our report aims to raise awareness about connective tissue disorders presenting as neuro-ophthalmological syndrome, as early recognition can accelerate diagnosis and decrease the morbidity.

A multispecies approach for understanding neuroimmune mechanisms of stress

PubMed Central

Deak, Terrence; Kudinova, Anastacia; Lovelock, Dennis F.; Gibb, Brandon E.; Hennessy, Michael B.

2017-01-01

The relationship between stress challenges and adverse health outcomes, particularly for the development of affective disorders, is now well established. The highly conserved neuroimmune mechanisms through which responses to stressors are transcribed into effects on males and females have recently garnered much attention from researchers and clinicians alike. The use of animal models, from mice to guinea pigs to primates, has greatly increased our understanding of these mechanisms on the molecular, cellular, and behavioral levels, and research in humans has identified particular brain regions and connections of interest, as well as associations between stress-induced inflammation and psychiatric disorders. This review brings together findings from multiple species in order to better understand how the mechanisms of the neuroimmune response to stress contribute to stress-related psychopathologies, such as major depressive disorder, schizophrenia, and bipolar disorder. PMID:28566946

A multispecies approach for understanding neuroimmune mechanisms of stress.

PubMed

Deak, Terrence; Kudinova, Anastacia; Lovelock, Dennis F; Gibb, Brandon E; Hennessy, Michael B

2017-03-01

The relationship between stress challenges and adverse health outcomes, particularly for the development of affective disorders, is now well established. The highly conserved neuroimmune mechanisms through which responses to stressors are transcribed into effects on males and females have recently garnered much attention from researchers and clinicians alike. The use of animal models, from mice to guinea pigs to primates, has greatly increased our understanding of these mechanisms on the molecular, cellular, and behavioral levels, and research in humans has identified particular brain regions and connections of interest, as well as associations between stress-induced inflammation and psychiatric disorders. This review brings together findings from multiple species in order to better understand how the mechanisms of the neuroimmune response to stress contribute to stress-related psychopathologies, such as major depressive disorder, schizophrenia, and bipolar disorder.

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

PubMed Central

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

2016-01-01

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

Multiple personality disorder among female inpatients in a state hospital.

PubMed

Latz, T T; Kramer, S I; Hughes, D L

1995-09-01

Professional skepticism and concerns regarding diagnostic reliability hinder research in dissociative disorders and multiple personality disorder. The reported frequency of multiple personality disorder in different psychiatric settings ranges from 2.4% to 35%. The authors conducted a replication study of multiple personality disorder ascertainment in women admitted to a state hospital over a 5.5-month period. Responses to the Dissociative Experiences Scale and to the Dissociative Disorders Interview Schedule were obtained, along with data on length of stay, county of admission referral, admission commitment status, and discharge diagnoses, for 176 female inpatients in a state hospital. Of 421 women representing 483 consecutive admissions, 121 were discharged before they could be assessed for study, 64 were excluded, 60 declined to participate, 176 enrolled in the study, and 175 completed the research procedures. Twenty-one women (12%) met criteria for multiple personality disorder based on the Dissociative Disorders Interview Schedule; these women were significantly younger than the women without multiple personality disorder. Scores on the Dissociative Experiences Scale of the women with multiple personality disorder (mean = 59.5, SD = 19.6) were significantly higher than the scores of women without multiple personality disorder (mean = 22.5, SD = 20.1), but considerable overlap occurred. There was no significant difference between groups in length of stay or admission status. The authors conclude that 1) the wide variability in multiple personality disorder detection is partially due to site-specific ascertainment biases and 2) despite its apparent usefulness for screening purposes, the Dissociative Experiences Scale requires more comprehensive evaluation before it can be applied broadly.

Brief report: life history and neuropathology of a gifted man with Asperger syndrome.

PubMed

Weidenheim, Karen M; Escobar, Alfonso; Rapin, Isabelle

2012-03-01

Despite recent interest in the pathogenesis of the autism spectrum disorders (pervasive developmental disorders), neuropathological descriptions of brains of individuals with well documented clinical information and without potentially confounding symptomatology are exceptionally rare. Asperger syndrome differs from classic autism by lack of cognitive impairment or delay in expressive language acquisition. We examined the 1,570 g brain of a 63 year old otherwise healthy mathematician with an Autistic Spectrum Disorder of Asperger subtype. Except for an atypical gyral pattern and megalencephaly, we detected no specific neuropathologic abnormality. Taken together, the behavioral data and pathological findings in this case are compatible with an early neurodevelopmental process affecting multiple neuroanatomic networks, but without a convincing morphologic signature detectable with routine neuropathologic technology.

Subtyping cognitive profiles in Autism Spectrum Disorder using a Functional Random Forest algorithm.

PubMed

Feczko, E; Balba, N M; Miranda-Dominguez, O; Cordova, M; Karalunas, S L; Irwin, L; Demeter, D V; Hill, A P; Langhorst, B H; Grieser Painter, J; Van Santen, J; Fombonne, E J; Nigg, J T; Fair, D A

2018-05-15

DSM-5 Autism Spectrum Disorder (ASD) comprises a set of neurodevelopmental disorders characterized by deficits in social communication and interaction and repetitive behaviors or restricted interests, and may both affect and be affected by multiple cognitive mechanisms. This study attempts to identify and characterize cognitive subtypes within the ASD population using our Functional Random Forest (FRF) machine learning classification model. This model trained a traditional random forest model on measures from seven tasks that reflect multiple levels of information processing. 47 ASD diagnosed and 58 typically developing (TD) children between the ages of 9 and 13 participated in this study. Our RF model was 72.7% accurate, with 80.7% specificity and 63.1% sensitivity. Using the random forest model, the FRF then measures the proximity of each subject to every other subject, generating a distance matrix between participants. This matrix is then used in a community detection algorithm to identify subgroups within the ASD and TD groups, and revealed 3 ASD and 4 TD putative subgroups with unique behavioral profiles. We then examined differences in functional brain systems between diagnostic groups and putative subgroups using resting-state functional connectivity magnetic resonance imaging (rsfcMRI). Chi-square tests revealed a significantly greater number of between group differences (p < .05) within the cingulo-opercular, visual, and default systems as well as differences in inter-system connections in the somato-motor, dorsal attention, and subcortical systems. Many of these differences were primarily driven by specific subgroups suggesting that our method could potentially parse the variation in brain mechanisms affected by ASD. Copyright © 2017. Published by Elsevier Inc.

Affective disorders and Health-Related Quality of Life (HRQoL) in adolescents and young adults with Multiple Sclerosis (MS): the moderating role of resilience.

PubMed

Rainone, Nunzia; Chiodi, Alessandro; Lanzillo, Roberta; Magri, Valeria; Napolitano, Anna; Morra, Vincenzo Brescia; Valerio, Paolo; Freda, Maria Francesca

2017-03-01

To investigate the moderating role of resilience in the relationship between affective disorders and Health-Related Quality of Life (HRQoL) for adolescents and young adults with multiple sclerosis (MS). A quantitative methodology was adopted. Fifty-three adolescents and young adults were interviewed to assess resilience as a personality trait (Ego-Resiliency Scale) and resilience as an interactive competence (CYRM-28), Health-Related Quality of Life (PedsQL 4.0), depression and anxiety (BDI-II and STAI-Y). Affective disorders, both depression (β = -.38, p < .001) and anxiety (State β = -.35, p < .001; Trait β = -.41, p < .001), were negatively associated with HRQoL. Data also showed that the resilience competencies using Individual (β = .22, p < .001) and relational resources (β = .12, p < .05) are significantly associated HRQoL. According to the regression analyses, we tested the moderating role of resilience competence using individual resources on the relationship between the Depression Cognitive Factor and Emotional Functioning. Data show that in step 2 of the regression analysis, we obtained a variation of β = -.45 (p < .001) to β = -.30 (p < .001) in the dimension for the Depression Cognitive Factor. The Sobel test showed that the moderating effect of resilience was significant regarding the increase in R 2 (p < .01). Resilience competence using individual resources moderates the relationship between the Depression Cognitive Factor and Emotional Functioning in adolescents with MS. Our study suggests that to improve well-being for adolescents with MS resilience could play a key role.

Associations between Resilience and the Well-Being of Mothers of Children with Autism Spectrum Disorder and Other Developmental Disabilities

ERIC Educational Resources Information Center

Halstead, Elizabeth; Ekas, Naomi; Hastings, Richard P.; Griffith, Gemma M.

2018-01-01

There is variability in the extent to which mothers are affected by the behavior problems of their children with developmental disabilities (DD). We explore whether maternal resilience functions as a protective or compensatory factor. In Studies 1 and 2, using moderated multiple regression models, we found evidence that maternal resilience…

Not Just a Middle-Class Affliction: Crafting a Social Work Research Agenda on Postpartum Depression

ERIC Educational Resources Information Center

Abrams, Laura S.; Curran, Laura

2007-01-01

Postpartum depression (PPD) is a major mental health disorder that affects at least 13 percent of new mothers and has detrimental consequences for populations that are of concern to social workers, such as low-income women, women of color, young women, and single mothers. Despite the relevance of PPD to multiple social work problems and…

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

PubMed Central

2012-01-01

Background Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Case Presentation Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. Conclusion This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients. PMID:22226368

Psychopharmacologic treatment of borderline personality disorder

PubMed Central

Ripoll, Luis H.

2013-01-01

The best available evidence for psychopharmacologic treatment of borderline personality disorder (BPD) is outlined here. BPD is defined by disturbances in identity and interpersonal functioning, and patients report potential medication treatment targets such as impulsivity, aggression, transient psychotic and dissociative symptoms, and refractory affective instability Few randomized controlled trials of psychopharmacological treatments for BPD have been published recently, although multiple reviews have converged on the effectiveness of specific anticonvulsants, atypical antipsychotic agents, and omega-3 fatty acid supplementation. Stronger evidence exists for medication providing significant improvements in impulsive aggression than in affective or other interpersonal symptoms. Future research strategies will focus on the potential role of neuropeptide agents and medications with greater specificity for 2A serotonin receptors, as well as optimizing concomitant implementation of evidence-based psychotherapy and psychopharmacology, in order to improve BPD patients' overall functioning. PMID:24174895

Antecedents of Coping with the Disease in Patients with Multiple Sclerosis: A Qualitative Content Analysis

PubMed Central

Dehghani, Ali; Dehghan Nayeri, Nahid; Ebadi, Abbas

2017-01-01

ABSTRACT Background: Due to many physical and mental disorders that occur in multiple sclerosis patients, identifying the factors affecting coping based on the experiences of patients using qualitative study is essential to improve their quality of life. This study was conducted to explore the antecedents of coping with the disease in patients with multiple sclerosis. Methods: This is a qualitative study conducted on 11 patients with multiple sclerosis in 2015 in Tehran, Iran. These patients were selected based on purposive sampling. Data were collected using semi-structured and in-depth interviews and coded. These data were analyzed using the conventional content analysis. The rigor of qualitative data using the criteria proposed by Guba and Lincoln were assessed. Results: Five main categories were revealed: (1) social support, (2) lenience, (3) reliance on faith, (4) knowledge of multiple sclerosis and modeling, and (5) economic and environmental situation. Each category had several distinct sub-categories. Conclusions: The results of this study showed that coping with multiple sclerosis is a complex, multidimensional and contextual concept that is affected by various factors in relation to the context of Iran. The findings of the study can provide the healthcare professionals with deeper recognition and understanding of these antecedents to improve successful coping in Iranian patients suffering from multiple sclerosis. PMID:28097178

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

PubMed

Kloth, Katja; Denecke, Jonas; Hempel, Maja; Johannsen, Jessika; Strom, Tim M; Kubisch, Christian; Lessel, Davor

2017-09-01

Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced translocation disrupting all isoforms were documented. The latter four patients were affected by a variable degree of intellectual disability, attention deficit hyperactivity disorder and autism. Here, we report on a boy with speech impairment, intellectual disability, autistic features, macrocephaly, macrosomia, chronic hunger and an altered sleeping pattern. By trio-whole-exome sequencing, we identified the first de novo nonsense mutation affecting all ANK3 transcripts. Thus, our data expand the phenotype of ANK3-associated diseases and suggest an isoform-based, phenotypic continuum between dominant and recessive ANK3-associated pathologies. Copyright © 2017. Published by Elsevier Masson SAS.

Sleep Disorders, Restless Legs Syndrome, and Uremic Pruritus: Diagnosis and Treatment of Common Symptoms in Dialysis Patients

PubMed Central

Scherer, Jennifer S.; Combs, Sara A.; Brennan, Frank

2017-01-01

Maintenance dialysis patients experience a high burden of physical and emotional symptoms that directly affect their quality of life and health care utilization. In this review, we specifically highlight common troublesome symptoms affecting dialysis patients: insomnia, restless legs syndrome, and uremic pruritus. Epidemiology, pathophysiology, and evidence-based current treatment are reviewed with the goal of providing a guide for diagnosis and treatment. Finally, we identify multiple additional areas of further study needed to improve symptom management in dialysis patients. PMID:27693261

Affective temperaments play an important role in the relationship between child abuse and the diagnosis of bipolar disorder.

PubMed

Toda, Hiroyuki; Inoue, Takeshi; Tanichi, Masaaki; Saito, Taku; Nakagawa, Shin; Masuya, Jiro; Tanabe, Hajime; Yoshino, Aihide; Kusumi, Ichiro

2018-04-01

In previous studies, various components such as environmental and genetic factors have been shown to contribute to the development of bipolar disorder (BD). This study investigated how multiple factors, including child abuse, adult life events, and affective temperaments, are interrelated and how they affect the diagnosis of BD. A total of 170 healthy controls and 75 BD patients completed the following self-administered questionnaires: the Patient Health Questionnaire-9 evaluating the severity of depressive symptoms; the Child Abuse and Trauma Scale (CATS) evaluating child abuse; the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego autoquestionnaire (TEMPS-A) evaluating affective temperaments; and the Life Experiences Survey (LES) evaluating negative and positive adult life events. The data were subjected to univariate analysis, multivariable analysis, and structural equation modeling. The structural equation modeling showed that the diagnosis of BD was indirectly predicted by the neglect and sexual abuse scores of the CATS through four affective temperaments (depressive, cyclothymic, irritable, and anxious) of the TEMPS-A and directly predicted by these four affective temperaments. This study suggested that affective temperament plays an important role as a mediator in the influence of child abuse on BD diagnosis. Copyright © 2018 Elsevier B.V. All rights reserved.

Multiple forms of rhythmic movements in an adolescent boy with rhythmic movement disorder.

PubMed

Su, Changjun; Miao, Jianting; Liu, Yu; Liu, Rui; Lei, Gesheng; Zhang, Wei; Yang, Ting; Li, Zhuyi

2009-12-01

Rhythmic movement disorder (RMD) refers to a group of stereotyped, repetitive movements involving large muscles, usually occurring prior to the onset of sleep and persisting into sleep. RMD more commonly exhibits only one or two forms of rhythmic movements (RM) in most reported cases. However, multiple RM forms of RMD occurring in a patient in the same night have rarely been reported. In this report, we present the unique case of a 15-year-old boy with RMD affected by multiple forms of RM in the same night, including four known forms (i.e., body rocking, head banging, leg rolling, and rhythmic feet movements) and two new kinds of RM (bilateral rhythmic arm rocking and rhythmic hands movements). Two video-polysomnographic recordings were performed in this patient before starting pharmacologic treatment and after long-term oral clonazepam treatment (1.0mg nightly for 3 months). The characteristics of RMD with multiple RM forms and the effectiveness of clonazepam on the RM episodes and polysomnographic findings observed in our patient are discussed. This report raises the fact that a patient with RMD may present with multiple complex rhythmic movements disrupting sleep, which emphasizes that better understanding of the clinical features of complex rhythmic movements during sleep in primary care settings is essential for early clinical diagnosis and optimal management.

Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms

PubMed Central

Janecka, M; Mill, J; Basson, M A; Goriely, A; Spiers, H; Reichenberg, A; Schalkwyk, L; Fernandes, C

2017-01-01

Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders. PMID:28140401

The impact of drugs for multiple sclerosis on sleep.

PubMed

Lanza, Giuseppe; Ferri, Raffaele; Bella, Rita; Ferini-Strambi, Luigi

2017-01-01

Although there is a growing literature on the presence of sleep disorders in multiple sclerosis (MS), few studies have specifically addressed the impact of drugs on sleep of these patients. Moreover, even when sleep is considered, quantitative assessment by standardized questionnaires or polysomnography is lacking. The studies that have been done highlight that interferon-beta and some symptomatic medications may affect sleep, thus contributing to fatigue, depression, and poor quality of life; conversely, natalizumab and cannabinoids may improve sleep. Common limitations of the literature reviewed here are small sample size, selection bias, and often a lack of objective outcome measures. Clinicians need to remember to ask about sleep in all MS patients and intervene when appropriate. A systematic approach that takes sleep into account is recommended to enhance recognition and appropriate management of sleep disruption, including disorders related to medication. Consideration of the impact on sleep should also be part of the design of trials of new therapies.

Schizoaffective disorder--an ongoing challenge for psychiatric nosology.

PubMed

Jäger, M; Haack, S; Becker, T; Frasch, K

2011-04-01

Schizoaffective disorder is a common diagnosis in mental health services. The present article aims to provide an overview of diagnostic reliability, symptomatology, outcome, neurobiology and treatment of schizoaffective disorder. Literature was identified by searches in "Medline" and "Cochrane Library". The diagnosis of schizoaffective disorder has a low reliability. There are marked differences between the current diagnostic systems. With respect to psychopathological symptoms, no clear boundaries were found between schizophrenia, schizoaffective disorder and affective disorders. Common neurobiological factors were found across the traditional diagnostic categories. Schizoaffective disorder according to ICD-10 criteria, but not to DSM-IV criteria, shows a more favorable outcome than schizophrenia. With regard to treatment, only a small and heterogeneous database exists. Due to the low reliability and questionable validity there is a substantial need for revision and unification of the current diagnostic concepts of schizoaffective disorder. If future diagnostic systems return to Kraepelin's dichotomous classification of non-organic psychosis or adopt a dimensional diagnostic approach, schizoaffective disorder will disappear from the psychiatric nomenclature. A nosological model with multiple diagnostic entities, however, would be compatible with retaining the diagnostic category of schizoaffective disorder. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Pseudobulbar affect: prevalence and quality of life impact in movement disorders.

PubMed

Strowd, Roy E; Cartwright, Michael S; Okun, Michael S; Haq, Ihtsham; Siddiqui, Mustafa S

2010-08-01

Pseudobulbar affect (PBA) is an affective disinhibition syndrome characterized by sudden, involuntary outbursts of inappropriate crying or laughing. We have previously reported the prevalence of PBA in movement disorders using an interviewer-administered questionnaire that had not been validated. In the current study, a validated self-administered screening instrument, the Center for Neurologic Study-Lability Scale (CNS-LS), was used to study the prevalence of PBA, its association with mood symptoms, and the quality of life impact. Two hundred sixty-nine patients met inclusion criteria (consent, age > 18 years, formal diagnosis, and completion of the CNS-LS). The CNS-LS was used to assess PBA at a cutoff score of 17 (utilized from multiple sclerosis studies). The Beck Depression Inventory (BDI) scale and Parkinson's disease questionnaire (PDQ-39) were used to assess depressive symptoms and quality of life. Logistic regression analysis was used to predict associations with PBA. PBA was prevalent in 7.1% (n = 19) of movement disorder patients. No significant difference in prevalence was observed by patient diagnosis: 7.1% (12/168) in Parkinson's disease (PD), 11.4% (4/35) in essential tremor, 0% (0/13) in dystonia, 0% (0/16) in psychogenic movement disorders, and 10.7% (3/28) in patients with other movement disorders. Patients with PBA had higher BDI depression scores (p < 0.0001) and lower PDQ-39 emotional well-being subscores (p < 0.0001). Patients taking antidepressant medications had significantly higher rates of PBA (p = 0.0008). The prevalence of PBA symptoms was 7.1% in PD and all movement disorders patients. Patients with PBA tend to have more depressive symptoms and poorer quality of life.

Risk factors in autism: Thinking outside the brain

PubMed Central

Matelski, Lauren; Van de Water, Judy

2017-01-01

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions that have been rising markedly in prevalence for the past 30 years, now thought to affect 1 in 68 in the United States. This has prompted the search for possible explanations, and has even resulted in some controversy regarding the “true” prevalence of autism. ASD are influenced by a variety of genetic, environmental, and possibly immunological factors that act during critical periods to alter key developmental processes. This can affect multiple systems and manifests as the social and behavioral deficits that define these disorders. The interaction of environmental exposures in the context of an individual’s genetic susceptibilities manifests differently in each case, leading to heterogeneous phenotypes and varied comorbid symptoms within the disorder. This has also made it very difficult to elucidate underlying genes and exposure profiles, but progress is being made in this area. Some pharmaceutical drugs, toxicants, and metabolic and nutritional factors have been identified in epidemiological studies as increasing autism risk, especially during the prenatal period. Immunologic risk factors, including maternal infection during pregnancy, autoantibodies to fetal brain proteins, and familial autoimmune disease, have consistently been observed across multiple studies, as have immune abnormalities in individuals with ASD. Mechanistic research using animal models and patient-derived stem cells will help researchers to understand the complex etiology of these neurodevelopmental disorders, which will lead to more effective therapies and preventative strategies. Proposed therapies that need more investigation include special diets, probiotics, immune modulation, oxytocin, and personalized pharmacogenomic targets. The ongoing search for biomarkers and better treatments will result in earlier identification of ASD and provide much needed help and relief for afflicted families. PMID:26725748

Multimodal Investigation of Network Level Effects Using Intrinsic Functional Connectivity, Anatomical Covariance, and Structure-to-Function Correlations in Unmedicated Major Depressive Disorder

PubMed Central

Scheinost, Dustin; Holmes, Sophie E; DellaGioia, Nicole; Schleifer, Charlie; Matuskey, David; Abdallah, Chadi G; Hampson, Michelle; Krystal, John H; Anticevic, Alan; Esterlis, Irina

2018-01-01

Converging evidence suggests that major depressive disorder (MDD) affects multiple large-scale brain networks. Analyses of the correlation or covariance of regional brain structure and function applied to structural and functional MRI data may provide insights into systems-level organization and structure-to-function correlations in the brain in MDD. This study applied tensor-based morphometry and intrinsic connectivity distribution to identify regions of altered volume and intrinsic functional connectivity in data from unmedicated individuals with MDD (n=17) and healthy comparison participants (HC, n=20). These regions were then used as seeds for exploratory anatomical covariance and connectivity analyses. Reduction in volume in the anterior cingulate cortex (ACC) and lower structural covariance between the ACC and the cerebellum were observed in the MDD group. Additionally, individuals with MDD had significantly lower whole-brain intrinsic functional connectivity in the medial prefrontal cortex (mPFC). This mPFC region showed altered connectivity to the ventral lateral PFC (vlPFC) and local circuitry in MDD. Global connectivity in the ACC was negatively correlated with reported depressive symptomatology. The mPFC–vlPFC connectivity was positively correlated with depressive symptoms. Finally, we observed increased structure-to-function correlation in the PFC/ACC in the MDD group. Although across all analysis methods and modalities alterations in the PFC/ACC were a common finding, each modality and method detected alterations in subregions belonging to distinct large-scale brain networks. These exploratory results support the hypothesis that MDD is a systems level disorder affecting multiple brain networks located in the PFC and provide new insights into the pathophysiology of this disorder. PMID:28944772

Multimodal Investigation of Network Level Effects Using Intrinsic Functional Connectivity, Anatomical Covariance, and Structure-to-Function Correlations in Unmedicated Major Depressive Disorder.

PubMed

Scheinost, Dustin; Holmes, Sophie E; DellaGioia, Nicole; Schleifer, Charlie; Matuskey, David; Abdallah, Chadi G; Hampson, Michelle; Krystal, John H; Anticevic, Alan; Esterlis, Irina

2018-04-01

Converging evidence suggests that major depressive disorder (MDD) affects multiple large-scale brain networks. Analyses of the correlation or covariance of regional brain structure and function applied to structural and functional MRI data may provide insights into systems-level organization and structure-to-function correlations in the brain in MDD. This study applied tensor-based morphometry and intrinsic connectivity distribution to identify regions of altered volume and intrinsic functional connectivity in data from unmedicated individuals with MDD (n=17) and healthy comparison participants (HC, n=20). These regions were then used as seeds for exploratory anatomical covariance and connectivity analyses. Reduction in volume in the anterior cingulate cortex (ACC) and lower structural covariance between the ACC and the cerebellum were observed in the MDD group. Additionally, individuals with MDD had significantly lower whole-brain intrinsic functional connectivity in the medial prefrontal cortex (mPFC). This mPFC region showed altered connectivity to the ventral lateral PFC (vlPFC) and local circuitry in MDD. Global connectivity in the ACC was negatively correlated with reported depressive symptomatology. The mPFC-vlPFC connectivity was positively correlated with depressive symptoms. Finally, we observed increased structure-to-function correlation in the PFC/ACC in the MDD group. Although across all analysis methods and modalities alterations in the PFC/ACC were a common finding, each modality and method detected alterations in subregions belonging to distinct large-scale brain networks. These exploratory results support the hypothesis that MDD is a systems level disorder affecting multiple brain networks located in the PFC and provide new insights into the pathophysiology of this disorder.

Treatment model in children with speech disorders and its therapeutic efficiency.

PubMed

Barberena, Luciana; Keske-Soares, Márcia; Cervi, Taís; Brandão, Mariane

2014-07-01

Introduction Speech articulation disorders affect the intelligibility of speech. Studies on therapeutic models show the effectiveness of the communication treatment. Objective To analyze the progress achieved by treatment with the ABAB-Withdrawal and Multiple Probes Model in children with different degrees of phonological disorders. Methods The diagnosis of speech articulation disorder was determined by speech and hearing evaluation and complementary tests. The subjects of this research were eight children, with the average age of 5:5. The children were distributed into four groups according to the degrees of the phonological disorders, based on the percentage of correct consonants, as follows: severe, moderate to severe, mild to moderate, and mild. The phonological treatment applied was the ABAB-Withdrawal and Multiple Probes Model. The development of the therapy by generalization was observed through the comparison between the two analyses: contrastive and distinctive features at the moment of evaluation and reevaluation. Results The following types of generalization were found: to the items not used in the treatment (other words), to another position in the word, within a sound class, to other classes of sounds, and to another syllable structure. Conclusion The different types of generalization studied showed the expansion of production and proper use of therapy-trained targets in other contexts or untrained environments. Therefore, the analysis of the generalizations proved to be an important criterion to measure the therapeutic efficacy.

Cognitive and affective empathy in children with conduct problems: additive and interactive effects of callous-unemotional traits and autism spectrum disorders symptoms.

PubMed

Pasalich, Dave S; Dadds, Mark R; Hawes, David J

2014-11-30

Callous-unemotional (CU) traits and autism spectrum disorders (ASD) symptoms are characterized by problems in empathy; however, these behavioral features are rarely examined together in children with conduct problems. This study investigated additive and interactive effects of CU traits and ASD symptoms in relation to cognitive and affective empathy in a non-ASD clinic-referred sample. Participants were 134 children aged 3 to 9 years (M=5.60; 79% boys) with oppositional defiant/conduct disorder, and their parents. Clinicians, teachers, and parents reported on dimensions of child behavior, and parental reports of family dysfunction and direct observations of parental warmth/responsiveness assessed quality of family relationships. Results from multiple regression analysis showed that, over and above the effects of child conduct problem severity and quality of family relationships, both ASD symptoms and CU traits were uniquely associated with deficits in cognitive empathy. Moreover, CU traits demonstrated an independent association with affective empathy, and this relationship was moderated by ASD symptoms. That is, there was a stronger negative association between CU traits and affective empathy at higher versus lower levels of ASD symptoms. These findings suggest including both CU traits and ASD-related social impairments in models delineating the atypical development of empathy in children with conduct problems. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Progranulin gene variation affects serum progranulin levels differently in Danish bipolar individuals compared with healthy controls.

PubMed

Buttenschøn, Henriette N; Nielsen, Marit N; Thotakura, Gangadaar; Lee, Chris W; Nykjær, Anders; Mors, Ole; Glerup, Simon

2017-06-01

The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls. In a Danish cohort of individuals with bipolar disorder and controls, we analysed the serum progranulin level (nbipolar=80, ncontrols=76) and five SNPs located within GRN and two SNPs near the SORT1 gene encoding sortilin, a progranulin scavenger receptor known to affect circulating progranulin levels (nbipolar=166, ncontrols=186). We observed no significant difference in the serum progranulin level between cases and controls and none of the analysed SNPs located within GRN or close to SORT1 were associated with bipolar disorder. Crude and adjusted (adjusted for case-control status, sex and age) linear regression analyses showed no effect of any SNPs on the serum progranulin level. However, we observed that the mean serum progranulin level in cases and controls is affected differently depending on the genotypes of two SNPs within GRN (rs2879096 and rs4792938). The sample size is relatively small and detailed information on medication and polarity of the disorder is not available. No correction for multiple testing was performed. Our study suggests that the potential of progranulin as a biomarker for bipolar disorder is genotype dependent.

Multiple Levels of Family Factors and Oppositional Defiant Disorder Symptoms Among Chinese Children.

PubMed

Lin, Xiuyun; Li, Longfeng; Heath, Melissa A; Chi, Peilian; Xu, Shousen; Fang, Xiaoyi

2018-03-01

Family factors are closely associated with child developmental outcomes. This study examined the relationship of oppositional defiant disorder (ODD) symptoms and factors at whole family, dyadic, and individual levels in Chinese children. Participants, who were recruited from 14 primary schools in north, east, and south-west China, included 80 father-child dyads and 169 mother-child dyads. Children in the participating dyads were previously diagnosed with ODD. Results revealed that family cohesion/adaptability was indirectly associated with ODD symptoms via parent-child relationship and child emotion regulation. Parent-child relationship affected ODD symptoms directly and indirectly through child emotion regulation. In addition, the effects of family cohesion/adaptability on parent emotion regulation and child emotion regulation were mediated by the parent-child relationship. The tested model provides a comprehensive framework of how family factors at multiple levels are related to child ODD symptoms and highlights the importance of understanding child emotional and behavioral problems within the family context, more specifically within the multiple levels of family relationships. © 2016 Family Process Institute.

Randomized, controlled trial of dextromethorphan/quinidine for pseudobulbar affect in multiple sclerosis.

PubMed

Panitch, Hillel S; Thisted, Ronald A; Smith, Richard A; Wynn, Daniel R; Wymer, James P; Achiron, Anat; Vollmer, Timothy L; Mandler, Raul N; Dietrich, Dennis W; Fletcher, Malcolm; Pope, Laura E; Berg, James E; Miller, Ariel

2006-05-01

To evaluate the efficacy and safety of DM/Q (capsules containing dextromethorphan [DM] and quinidine [Q]) compared with placebo, taken twice daily, for the treatment of pseudobulbar affect over a 12-week period in multiple sclerosis patients. A total of 150 patients were randomized in a double-blind, placebo-controlled study to assess pseudobulbar affect with the validated Center for Neurologic Study-Lability Scale. Each patient also recorded the number of episodes experienced between visits, estimated quality of life and quality of relationships on visual analog scales, and completed a pain rating scale. Patients receiving DM/Q had greater reductions in Center for Neurologic Study-Lability Scale scores than those receiving placebo (p < 0.0001) at all clinic visits (days 15, 29, 57, and 85). All secondary end points also favored DM/Q, including the number of crying or laughing episodes (p

Prospectively-Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort

PubMed Central

Pathak, Anand; Adams, Charleen D.; Loud, Jennifer T.; Nichols, Kathryn; Stewart, Douglas R.; Greene, Mark H.

2015-01-01

Background Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly-penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. Methods We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Results Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR=11.9; 95% confidence interval [CI]=5.1–23.4; excess absolute risk=7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR=13.4; 95%CI=1.6–48.6). Conclusions Our data are the first indicating that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Impact Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. PMID:26265202

Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

PubMed

Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H

2015-10-01

Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.

Nutrition and Lifestyle Intervention on Mood and Neurological Disorders

PubMed Central

Null, Gary; Pennesi, Luanne; Feldman, Martin

2016-01-01

This group study explored how an intervention of diet and lifestyle, including a vegan diet, fruit and vegetable juicing, nutritional supplements, regular exercise, and destressing techniques, would affect 27 subjects with anxiety, depression, poor memory, dementia, Alzheimer’s disease, Parkinson’s disease, history of stroke, or multiple sclerosis. Several subjects had overlapping conditions. Videotaped testimonials were obtained describing subjective results. Testimonials stated multiple benefits across all conditions addressed by the study, with subjects often reporting substantial benefits. These results demonstrate that an intervention of diet, juicing, supplements, exercise, and lifestyle may provide considerable benefits for all conditions addressed. PMID:26976087

Childhood Maltreatment as Predictor of Pathological Personality Traits Using PSY-5 in an Adult Psychiatric Sample.

PubMed

Choi, Ji Young; Park, Soo Hyun

2018-02-01

Extant literature indicates that childhood maltreatment is significantly associated with personality disorders. With the recent call for a more dimensional approach to understanding personality and pathological personality traits, the aim of the present study was to examine whether the experience of childhood maltreatment is associated with pathological personality traits as measured by the Personality Psychopathology Five (PSY-5). We analyzed data from 557 adult psychiatric patients with diverse psychiatric diagnoses, including mood disorders, schizophrenia spectrum disorders, and anxiety disorders. Hierarchical multiple regression analyses were conducted to determine the degree to which childhood maltreatment explained the five trait dimensions after controlling for demographic variables, presence of psychotic symptoms, and degree of depressive symptoms. Childhood maltreatment significantly predicted all of the five trait dimensions of the PSY-5. This suggests that childhood maltreatment may negatively affect the development of an adaptive adjustment system, thereby potentially contributing to the emergence of pathological personality traits.

Priorities for autism spectrum disorder risk communication and ethics.

PubMed

Yudell, Michael; Tabor, Holly K; Dawson, Geraldine; Rossi, John; Newschaffer, Craig

2013-11-01

Autism spectrum disorders are an issue of increasing public health significance. The incidence of autism spectrum disorders has been increasing in recent years, and they are associated with significant personal and financial impacts for affected persons and their families. In recent years, a large number of scientific studies have been undertaken, which investigate genetic and environmental risk factors for autism, with more studies underway. At present, much remains unknown regarding autism spectrum disorder risk factors, but the emerging picture of causation is in many cases complex, with multiple genes and gene-environment interactions being at play. The complexity and uncertainty surrounding autism spectrum disorder risk factors raise a number of questions regarding the ethical considerations that should be taken into account when undertaking autism spectrum disorder risk communication. At present, however, little has been written regarding autism spectrum disorder risk communication and ethics. This article summarizes the findings of a recent conference investigating ethical considerations and policy recommendations in autism spectrum disorder risk communication, which to the authors' knowledge is the first of its kind. Here, the authors discuss a number of issues, including uncertainty; comprehension; inadvertent harm; justice; and the appropriate roles of clinicians, scientists, and the media in autism spectrum disorder risk communication.

Transcranial sonography in movement disorders: an interesting tool for diagnostic perspectives.

PubMed

Sanzaro, E; Iemolo, F

2016-03-01

Transcranial sonography has become an important tool for the diagnosis of various movement disorders. In most patients with idiopathic Parkinson disease, a markedly hyperechogenic substantia nigra (SN) was detected on at least one side. We have highlighted the sonographic features that might help the differential diagnosis of PD and other movement disorders. Our investigation involved 30 patients (age 45-85 years) with idiopathic Parkinson disease, 2 multiple system atrophy, 3 progressive supranuclear palsy and 2 patients with restless legs syndrome. In accordance with several previous studies, we detected hyperechogenicity of the SN by TCS in 90% of patients with idiopathic Parkinson disease. Subjects with a marked severity disease had a larger extent of the hyperechogenic SN signal. All progressive supranuclear palsy patients had an enlarged third ventricle and, in two cases, we observed the presence of hyperechoic areas in the lentiform nucleus. This last ultrasonographic feature was also seen in our patients with multiple system atrophy. TCS abnormalities of the SN, midbrain raphe and basal ganglia are characteristics of several movement and affective disorders. These features are less easily detected by other techniques, such as CT and MRI, which enable the exclusion of structural lesions, such as tumours and multi-infarct disease, because the physical principle differs from other imaging methods.

Panic Disorder - Multiple Languages

MedlinePlus

... Are Here: Home → Multiple Languages → All Health Topics → Panic Disorder URL of this page: https://medlineplus.gov/languages/ ... V W XYZ List of All Topics All Panic Disorder - Multiple Languages To use the sharing features on ...

Musculoskeletal disorders among Thai women in construction-related work.

PubMed

Hanklang, Suda; Kaewboonchoo, Orawan; Silpasuwan, Pimpan; Mungarndee, Suriyaphun S

2014-03-01

A cross-sectional study was conducted to determine the prevalence of musculoskeletal disorder symptoms and its risk factors among women rebar workers. A simple random sampling method was used and data were collected by face-to-face interview and ergonomic assessment from February to March 2011. A total of 272 women rebar workers with at least 6 months' job experience participated in this study. The findings revealed that 57.7% of workers reported musculoskeletal disorder symptoms with low back and shoulders as the most common body parts affected (46.0%). Multiple logistic regression analysis indicated 2 variables that are significantly associated with musculoskeletal disorders: prolonged working hours (adjusted odds ratio = 7.63; 95% confidence interval = 2.06-28.31) and awkward posture (adjusted odds ratio = 43.79; 95% confidence interval = 17.09-112.20). The high prevalence of musculoskeletal disorders among women rebar workers suggests that an appropriate ergonomic workstation design and ergonomic training for women rebar workers are necessary.

A model for dual disorder treatment in acute psychiatry in a VA population.

PubMed

Ahrens, M P

1998-01-01

One model for addressing the dual disorders of substance abuse and a concomitant mental disorder in an acute-psychiatry inpatient ward of a VA Medical Center utilized psychoeducation and ward policies to empower patients to make decisions affecting their recoveries. Existing staff shared responsibilities for implementing activities and creating ward milieu that supported psychiatric patients toward a life free of alcohol and drugs as they gained in acceptance of responsibility for the management of their mental disorders. Integrated programming assisted patients in constructing a meaningful path of recovery out of multiple treatment approaches and philosophies. Treatment principles, ward policies, and goals for an integrated acute-psychiatry model evolved over 4 years. Designed from a consumer-oriented "strengths perspective," patients responded to the new programming with satisfaction and gratitude. Recent adaptation of these policies, principles, and goals to a newly instituted continuous-care treatment program indicates the appropriateness of their application for outpatient dual disorder treatment and programming as well.

Immune System: An Emerging Player in Mediating Effects of Endocrine Disruptors on Metabolic Health.

PubMed

Bansal, Amita; Henao-Mejia, Jorge; Simmons, Rebecca A

2018-01-01

The incidence of metabolic disorders like type 2 diabetes and obesity continues to increase. In addition to the well-known contributors to these disorders, such as food intake and sedentary lifestyle, recent research in the exposure science discipline provides evidence that exposure to endocrine-disrupting chemicals like bisphenol A and phthalates via multiple routes (e.g., food, drink, skin contact) also contribute to the increased risk of metabolic disorders. Endocrine-disrupting chemicals (EDCs) can disrupt any aspect of hormone action. It is becoming increasingly clear that EDCs not only affect endocrine function but also adversely affect immune system function. In this review, we focus on human, animal, and in vitro studies that demonstrate EDC exposure induces dysfunction of the immune system, which, in turn, has detrimental effects on metabolic health. These findings highlight how the immune system is emerging as a novel player by which EDCs may mediate their effects on metabolic health. We also discuss studies highlighting mechanisms by which EDCs affect the immune system. Finally, we consider that a better understanding of the immunomodulatory roles of EDCs will provide clues to enhance metabolic function and contribute toward the long-term goal of reducing the burden of environmentally induced diabetes and obesity. Copyright © 2018 Endocrine Society.

[Channels: a new way to revisit pathology].

PubMed

Fournier, Emmanuel

2014-02-01

Many "essential" diseases that manifest themselves in the form of crises or fits (epilepsies, episodic ataxia, periodic paralyses, myotonia, heart rhythm disorders, etc.) are due to ionic channel dysfunction and are thus referred to as "channelopathies". Some of these disorders are congenital, due to mutations of genes encoding channel subunits, while others result from toxic, immune or hormonal disturbances affecting channelfunction. Channelopathies take on a wide variety of clinical forms, depending on the type of channel (sodium, potassium, calcium, chloride...) and the type of dysfunction (loss or gain of function). Some apparently unrelated diseases affecting distinct organs are due to a similar dysfunction of the same channel, revealing unsuspected relationships between organs and between medical specialties. In addition, a given syndrome can be caused by distinct channel dysfunctions. This provides new opportunities for diferential diagnosis and specific correction of the causal defects, although some treatments find applications across multiple medical specialties.

Early Identification and Treatment of Communication and Swallowing Deficits in Parkinson Disease

PubMed Central

Ciucci, Michelle R.; Grant, Laura M.; Paul Rajamanickam, Eunice S.; Hilby, Breanna L.; Blue, Katherine V.; Jones, Corinne A.; Kelm-Nelson, Cynthia A.

2015-01-01

Parkinson disease (PD) is a complex, progressive, neurodegenerative disorder that leads to a wide range of deficits including fine and gross sensorimotor impairment, autonomic dysfunction, mood disorders, and cognitive decline. Traditionally, the focus for diagnosis and treatment has been on sensorimotor impairment related to dopamine depletion. It is now widely recognized, however, that PD-related pathology affects multiple central nervous system neurotransmitters and pathways. Communication and swallowing functions can be impaired even in the early stages, significantly affecting health and quality of life. The purpose of this article is to review the literature on early intervention for communication and swallowing impairment in PD. Overarching themes were that (1) studies and interpretation of data from studies in early PD are limited; (2) best therapy practices have not been established, in part due to the heterogeneous nature of PD; and (3) as communication and swallowing problems are pervasive in PD, further treatment research is essential. PMID:24166192

Autism genetics: Methodological issues and experimental design.

PubMed

Sacco, Roberto; Lintas, Carla; Persico, Antonio M

2015-10-01

Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

Post-traumatic stress disorder.

PubMed

Bisson, Jonathan I

2010-02-03

Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and previous psychiatric history or personality factors. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent PTSD? What are the effects of interventions to treat PTSD? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management; antiepileptic drugs; antihypertensive drugs; benzodiazepines; brofaromine; CBT; drama therapy; eye movement desensitisation and reprocessing; fluoxetine; group therapy; hydrocortisone; hypnotherapy; inpatient treatment programmes; Internet-based psychotherapy; mirtazapine; multiple-session CBT; multiple-session collaborative trauma support; multiple-session education; nefazodone; olanzapine; paroxetine; phenelzine; psychodynamic psychotherapy; risperidone; SSRIs (versus other antidepressants); sertraline; single-session group debriefing; single-session individual debriefing; supportive psychotherapy; supportive counselling; temazepam; tricyclic antidepressants; and venlafaxine.

Post-traumatic stress disorder

PubMed Central

2010-01-01

Introduction Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and previous psychiatric history or personality factors. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent PTSD? What are the effects of interventions to treat PTSD? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management; antiepileptic drugs; antihypertensive drugs; benzodiazepines; brofaromine; CBT; drama therapy; eye movement desensitisation and reprocessing; fluoxetine; group therapy; hydrocortisone; hypnotherapy; inpatient treatment programmes; Internet-based psychotherapy; mirtazapine; multiple-session CBT; multiple-session collaborative trauma support; multiple-session education; nefazodone; olanzapine; paroxetine; phenelzine; psychodynamic psychotherapy; risperidone; SSRIs (versus other antidepressants); sertraline; single-session group debriefing; single-session individual debriefing; supportive psychotherapy; supportive counselling; temazepam; tricyclic antidepressants; and venlafaxine. PMID:21718580

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

Diagnostic Stability of ICD/DSM First Episode Psychosis Diagnoses: Meta-analysis

PubMed Central

Fusar-Poli, Paolo; Cappucciati, Marco; Rutigliano, Grazia; Heslin, Margaret; Stahl, Daniel; Brittenden, Zera; Caverzasi, Edgardo; McGuire, Philip; Carpenter, William T.

2016-01-01

Background: Validity of current International Classification of Disease/Diagnostic and Statistical Manual of Mental Disorders (ICD/DSM) first episode psychosis diagnoses is essential in clinical practice, research, training and public health. Method: We provide a meta-analytical estimate of prospective diagnostic stability and instability in ICD-10 or DSM-IV first episode diagnoses of functional psychoses. Independent extraction by multiple observers. Random effect meta-analysis conducted with the “metaprop,” “metaninf,” “metafunnel,” “metabias,” and “metareg” packages of STATA13.1. Moderators were tested with meta-regression analyses. Heterogeneity was assessed with the I 2 index. Sensitivity analyses tested robustness of results. Publication biases were assessed with funnel plots and Egger’s test. Findings: 42 studies and 45 samples were included, for a total of 14 484 first episode patients and an average follow-up of 4.5 years. Prospective diagnostic stability ranked: schizophrenia 0.90 (95% CI 0.85–0.95), affective spectrum psychoses 0.84 (95% CI 0.79–0.89), schizoaffective disorder 0.72 (95% CI 0.61–0.73), substance-induced psychotic disorder 0.66 (95% CI 0.51–0.81), delusional disorder 0.59 (95% CI 0.47–0.71), acute and transient psychotic disorder/brief psychotic disorder 0.56 (95% CI 0.62–0.60), psychosis not otherwise specified 0.36 (95% CI 0.27–0.45, schizophreniform disorder 0.29 (95% CI 0.22–0.38). Diagnostic stability within schizophrenia spectrum psychoses was 0.93 (95% CI 0.89–0.97); changes to affective spectrum psychoses were 0.05 (95% CI 0.01–0.08). About 0.10 (95% CI 0.05–0.15) of affective spectrum psychoses changed to schizophrenia spectrum psychosis. Across the other psychotic diagnoses there was high diagnostic instability, mostly to schizophrenia. Interpretation: There is meta-analytical evidence for high prospective diagnostic stability in schizophrenia spectrum and affective spectrum psychoses, with no significant ICD/DSM differences. These results may inform the development of new treatment guidelines for early psychosis and impact drug licensing from regulatory agencies. PMID:26980142

Stakeholders' perspective on issues and challenges associated with care and treatment of aging-related cognitive impairment disorders in Singapore.

PubMed

Setia, Monika; Islam, Amina M; Thompson, James P; Matchar, David B

2011-11-01

An expanding elderly population poses challenges for the provision of care and treatment for age-related physical and mental disorders. Cognitive impairment (CI)/dementia is one such mental disorder that is on the rise in Singapore and has concomitant implications for social and health systems. The objective of this study is to understand the perspectives of prominent stakeholders about current and future issues and challenges associated with CI/dementia among the elderly in Singapore. Using indepth interviews, this qualitative study obtained the views of multiple stakeholders on issues and challenges associated with CI/dementia in Singapore. The 30 individuals interviewed as part of the study included clinicians, policy-makers, researchers, community workers, administrators, and caregivers. Using a framework approach, interview texts were indexed into domains and issues by utilizing NVivo 9.0 software. The stakeholders expressed concerns related to multiple domains of the CI/dementia care system: attitude and awareness, economics, education, family caregiving, inputs to care system, living arrangements, prevention, screening and diagnosis, and treatment and management of care. Within each domain, multiple issues and challenges were identified by respondents. The study identifies a complex set of inter-related issues and challenges that are associated with the care and treatment of people with CI/dementia. The results suggest that CI and dementia profoundly affect patients, families, and communities and that the issues related to the two disorders are truly system-wide. These findings lay the foundation for utilization of a systems approach to studying CI/dementia and provide an analytic framework for future research on complex health care issues.

Epidemiology of preeclampsia: Impact of obesity

PubMed Central

Jeyabalan, Arun

2013-01-01

Preeclampsia is a pregnancy-specific disorder that affects 2 to 8% of all pregnancies and remains a leading cause of maternal and perinatal morbidity and mortality worldwide. Diagnosis is based on new onset of hypertension and proteinuria. Multiple organ systems can be affected with severe disease. The wide range of risk factors reflects the heterogeneity of preeclampsia. Obesity, which is increasing at an alarming rate, is also a risk factor for preeclampsia as well as for later life cardiovascular disease. Exploring common features may provide insight into the pathophysiologic mechanisms underlying preeclampsia among obese and overweight women. PMID:24147919

Introduction to pseudobulbar affect: setting the stage for recognition and familiarity with this challenging disorder.

PubMed

Demler, Tammie Lee

2017-12-01

Pseudobulbar affect (PBA), despite its prevalence and distinctive symptoms, is widely underrecognized and undertreated. It is characterized by uncontrollable laughing or crying that can occur in an exaggerated manner or inappropriately to a given situation or stimuli. PBA is thought to center around preexisting neurological conditions, which include Parkinson disease, multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer disease, traumatic brain injury, and stroke. The PBA Registry Series trial was created to measure the prevalence of PBA among patients with these underlying neurological conditions. Through greater awareness, recognition, and diagnosis, treatment for patients with PBA can be improved.

Anxiety Symptoms in Boys with Autism Spectrum Disorder, Attention-Deficit Hyperactivity Disorder, or Chronic Multiple Tic Disorder and Community Controls

ERIC Educational Resources Information Center

Guttmann-Steinmetz, Sarit; Gadow, Kenneth D.; DeVincent, Carla J.; Crowell, Judy

2010-01-01

We compared symptoms of generalized anxiety disorder (GAD) and separation anxiety disorder (SAD) in 5 groups of boys with neurobehavioral syndromes: attention-deficit/hyperactivity disorder (ADHD) plus autism spectrum disorder (ASD), ADHD plus chronic multiple tic disorder (CMTD), ASD only, ADHD only, and community Controls. Anxiety symptoms were…

Psychiatric disorders in single and multiple sexual murderers.

PubMed

Hill, Andreas; Habermann, Niels; Berner, Wolfgang; Briken, Peer

2007-01-01

Sexual homicides - and particularly offenders with multiple victims - receive much attention in the general public as well as among forensic experts. The aim of this study was to assess psychiatric disorders in a large sample of sexual murderers and to identify disorders related to multiple sexual homicides. Psychiatric court reports from 20 German forensic psychiatrists on 166 men who had committed a sexual homicide were evaluated for psychiatric disorders according to DSM-IV, including standardized instruments for personality disorders (criteria from the Structured Clinical Interview) and psychopathy (Psychopathy Checklist-Revised). Offenders with a single sexual homicide victim (n = 130) were compared to those with multiple victims (n = 36). High lifetime prevalence rates were found for substance abuse or dependence, paraphilias (especially sexual sadism), sexual dysfunctions and personality disorders (especially antisocial, borderline, sadistic and schizoid). In the multiple sexual murderer group sexual sadism, voyeurism, sadistic, antisocial and schizoid personality disorders were more frequent than in the single-victim group; none of the multiple offenders was diagnosed with a mood disorder. Multiple sexual murderers are characterized by disorders in three major psychopathological domains: sexual as well as 'character' sadism, antisociality and schizoid personality. A thorough diagnostic evaluation of Axis I as well as Axis II disorders should be part of risk assessments in sexual homicide perpetrators. Although the study was a retrospective investigation on psychiatric court reports, the size of the sample and consistency with results from previous studies give confidence that the identified group differences are unlikely to be due to methodological limitations.

[Effect of pharmacologic treatment of the nutritional status of neurologic patients].

PubMed

Piñeiro Corrales, Guadalupe; Vázquez López, Cristina; Álvarez Payero, Miriam

2014-01-01

Clinical manifestations accompanying neurological diseases are diverse and affect multiple organs. Nutritional status of patients with certain neurological diseases such as stroke, Alzheimer's disease, Parkinson's disease, Epilepsy and Multiple Sclerosis can be altered because of symptoms associated with disease course, including certain micronutrient deficiency (folic acid, zinc, vitamin B6 and B12, vitamin D, vitamin E and vitamin C), changes in energy expenditure, intake decreased, gastrointestinal disorders and dysfunction of the bone mass. Also, we have to take in account other factors as: advanced age, multiple co morbidities, polypharmacy, the use of herbal products, social habits, diet and pharmacological treatments effect. An assessment of the factors related to neurological treatment that cause alterations in metabolic and nutritional status was performed: side effects of anti-Parkinson drugs, antiepileptic drugs, and multiple sclerosis drugs; drug-nutrient interactions; and nutrient-drug interactions.

Characterization of the zinc-induced Shank3 interactome of mouse synaptosome.

PubMed

Lee, Yeunkum; Ryu, Jae Ryun; Kang, Hyojin; Kim, Yoonhee; Kim, Shinhyun; Zhang, Yinhua; Jin, Chunmei; Cho, Hyo Min; Kim, Won-Ki; Sun, Woong; Han, Kihoon

2017-12-16

Variants of the SHANK3 gene, which encodes a core scaffold protein of the postsynaptic density of excitatory synapses, have been causally associated with numerous brain disorders. Shank3 proteins directly bind zinc ions through their C-terminal sterile α motif domain, which enhances the multimerization and synaptic localization of Shank3, to regulate excitatory synaptic strength. However, no studies have explored whether zinc affects the protein interactions of Shank3, which might contribute to the synaptic changes observed after zinc application. To examine this, we first purified Shank3 protein complexes from mouse brain synaptosomal lysates that were incubated with different concentrations of ZnCl 2 , and analyzed them with mass spectrometry. We used strict criteria to identify 71 proteins that specifically interacted with Shank3 when extra ZnCl 2 was added to the lysate. To characterize the zinc-induced Shank3 interactome, we performed various bioinformatic analyses that revealed significant associations of the interactome with subcellular compartments, including mitochondria, and brain disorders, such as bipolar disorder and schizophrenia. Together, our results showing that zinc affected the Shank3 protein interactions of in vitro mouse synaptosomes provided an additional link between zinc and core synaptic proteins that have been implicated in multiple brain disorders. Copyright © 2017 Elsevier Inc. All rights reserved.

Arthroscopic Synovectomy of Wrist in Rheumatoid Arthritis.

PubMed

Shim, Jae Woo; Park, Min Jong

2017-11-01

Rheumatoid arthritis (RA) is a systemic inflammatory disorder affecting multiple joints. Wrist involvement is common. Patients with persistent symptoms despite medical management are candidates for surgery. Synovectomy can provide pain relief and functional improvement for rheumatoid wrist. Arthroscopic synovectomy is a safe and reliable method, with minimal postoperative morbidity. This article reviews the role, technique, and results of arthroscopic synovectomy in the rheumatoid wrist. Copyright © 2017 Elsevier Inc. All rights reserved.

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.

PubMed

Mathijssen, Inge B; Holtkamp, Kim C A; Ottenheim, Cecile P E; van Eeten-Nijman, Janneke M C; Lakeman, Phillis; Meijers-Heijboer, Hanne; van Maarle, Merel C; Henneman, Lidewij

2018-02-01

Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%). Familiarity with the genetic disorders was high. Knowledge after counseling increased (p < 0.001); however, still 9%, compared to 29% before counseling, wrongly mentioned an increased risk of having an affected child if both parents are carriers of different disorders. Most attendees (97%) recalled their test results correctly, but two couples reported being carrier of another disorder than reported. Overall, 63% felt worried while waiting for results but anxiety levels returned to normal afterwards. In all, 2/39 (5%) carriers felt less healthy. Screened individuals were very satisfied; they did not regret testing (97%) and would recommend testing to others (97%). The majority (94%) stated that couples should always have a pretest consultation, preferably by a genetic counselor rather than their general practitioner (83%). All carrier couples made reproductive decisions based on their results. Main reason for non-attendance was unawareness of the screening offer. With expanded carrier screening, adequately informing couples pretest and posttesting is of foremost importance. Close influencers (family/friends) can be used to raise awareness of a screening offer. Our findings provide lessons for the implementation of expanded carrier screening panels in other communities and other settings.

Downregulation of the psychiatric susceptibility gene Cacna1c promotes mitochondrial resilience to oxidative stress in neuronal cells.

PubMed

Michels, Susanne; Ganjam, Goutham K; Martins, Helena; Schratt, Gerhard M; Wöhr, Markus; Schwarting, Rainer K W; Culmsee, Carsten

2018-01-01

Affective disorders such as major depression and bipolar disorder are among the most prevalent forms of mental illness and their etiologies involve complex interactions between genetic and environmental risk factors. Over the past ten years, several genome wide association studies (GWAS) have identified CACNA1C as one of the strongest genetic risk factors for the development of affective disorders. However, its role in disease pathogenesis is still largely unknown. Vulnerability to affective disorders also involves diverse environmental risk factors such as perinatal insults, childhood maltreatment, and other adverse pathophysiological or psychosocial life events. At the cellular level, such environmental influences may activate oxidative stress pathways, thereby altering neuronal plasticity and function. Mitochondria are the key organelles of energy metabolism and, further, highly important for the adaptation to oxidative stress. Accordingly, multiple lines of evidence including post-mortem brain and neuro-imaging studies suggest that psychiatric disorders are accompanied by mitochondrial dysfunction. In this study, we investigated the effects of Cacna1c downregulation in combination with glutamate-induced oxidative stress on mitochondrial function, Ca 2+ homeostasis, and cell viability in mouse hippocampal HT22 cells. We found that the siRNA-mediated knockdown of Cacna1c preserved mitochondrial morphology, mitochondrial membrane potential, and ATP levels after glutamate treatment. Further, Cacna1c silencing inhibited excessive mitochondrial reactive oxygen species formation and calcium influx, and protected the HT22 cells from oxidative cell death. Overall, our findings suggest that the GWAS-confirmed psychiatric risk gene CACNA1C plays a major role in oxidative stress pathways with particular impact on mitochondrial integrity and function.

Neural correlates of deficits in pain-related affective meaning construction in patients with chronic pain disorder.

PubMed

Noll-Hussong, Michael; Otti, Alexander; Wohlschlaeger, Afra M; Zimmer, Claus; Henningsen, Peter; Lahmann, Claas; Ronel, Joram; Subic-Wrana, Claudia; Lane, Richard D; Decety, Jean; Guendel, Harald

2013-02-01

Psychological and neural mechanisms of the affective dimension of pain are known to be disturbed in patients with chronic pain disorder. The aim of this functional magnetic resonance imaging study was to assess the neurofunctional and behavioral measures underlying the ability to construct pain-related affective meaning in a painful situation by comparing 21 clinically and psychometrically well-characterized patients with persistent non-nociceptive somatoform pain with 19 healthy controls. The functional magnetic resonance imaging task involved viewing pictures depicting human hands and feet in different painful and nonpainful situations. Participants were asked to estimate the perceived pain intensity. These data were correlated with behavioral measures of depression, alexithymia, and general cognitive and emotional empathy. In a hypothesis-driven region-of-interest analysis, the healthy control group exhibited greater activation of the left perigenual anterior cingulate cortex than patients with pain (Montreal Neurological Institute coordinates (x y z)=-8 38 0; cluster extent=54 voxels; T=4.28; p=.006 corrected for multiple comparisons at cluster level). No group differences in the activation of the anterior insular cortex were found. Scores on self-assessment instruments (Beck Depression Inventory I, Interpersonal Reactivity Index, and 20-item Toronto Alexithymia Scale) did not influence neuroimaging results. Our results suggest that patients with chronic medically unexplained pain have an altered neural pain perception process owing to decreased activation of empathetic-affective networks, which we interpret as a deficit in pain-related affective meaning construction. These findings may lead to a more specific and detailed neurobiological understanding of the clinical impression of disturbed affect in patients with chronic pain disorder.

The importance of the function of exercise in the relationship between obligatory exercise and eating and body image concerns.

PubMed

De Young, Kyle P; Anderson, Drew A

2010-01-01

This study tested whether exercising in response to negative affect moderates the association between obligatory exercise and eating and body image psychopathology. Participants (n=226) completed the Eating Disorders Examination-Questionnaire (EDE-Q), Obligatory Exercise Questionnaire (OEQ), and a question assessing whether they ever exercise in response to negative affect. In total, 132 (58.4%) participants endorsed exercising in response to negative affect. Multiple regression analyses revealed significant main effects of negative affect motivated exercise, OEQ total scores, and gender on all four EDE-Q subscales and significant interactions of negative affect motivated exercise and OEQ scores on the Eating Concern, Shape Concern, and Weight Concern scales but not the Restraint scale of the EDE-Q. Obligatory exercisers may not demonstrate elevated eating and body image concerns in the absence of negative affect motivated exercise, providing further support of the importance of the function of exercise.

Blue rubber bleb nevus syndrome with simultaneous neurological and skeletal involvement.

PubMed

Tzoufi, Meropi S; Sixlimiri, Polyxeni; Nakou, Iliada; Argyropoulou, Maria I; Stefanidis, Constantinos J; Siamopoulou-Mavridou, Antigone

2008-08-01

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by venous malformations usually affecting the skin and the gastrointestinal tract. These skin haemangiomas are present at birth and deteriorate as the body grows, causing primarily cosmetic problems. The haemangiomas of the gastrointestinal tract may appear later in life and may bleed, causing chronic anaemia, or may present with severe complications such as rupture, intestinal torsion, and intussusception. Other organs may also be involved. This article describes a 13-year-old boy with multiple haemangiomas of the skin, the mucous membranes, and the gastrointestinal tract, which caused anaemia and ileoileic intussusception. In this patient, the nervous system was significantly affected with a haemangioma of the left occipital lobe, with complications of stroke. He also had multiple paravertebral heamangiomas, which caused pressure signs and symptoms. This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth. In the relevant literature, this is the first case of BRBNS with simultaneous neurological and skeletal involvement. Such cases should be recognized early, as they can lead to serious multiple health problems and handicaps.

REM sleep behavior disorder and narcoleptic features in anti-Ma2-associated encephalitis.

PubMed

Compta, Yaroslau; Iranzo, Alex; Santamaría, Joan; Casamitjana, Roser; Graus, Francesc

2007-06-01

A 69-year-old man with anti-Ma2 paraneoplastic encephalitis presented with subacute onset of severe hypersomnia, memory loss, parkinsonism, and gaze palsy. A brain magnetic resonance imaging study showed bilateral damage in the dorsolateral midbrain, amygdala, and paramedian thalami. Videopolysomnography disclosed rapid eye movement (REM) sleep behavior disorder, and a Multiple Sleep Latency Test showed a mean sleep latency of 7 minutes and 4 sleep-onset REM periods. The level of hypocretin-1 in the cerebrospinal fluid was low (49 pg/mL). This observation illustrates that REM sleep behavior disorder and narcoleptic features are 2 REM-sleep abnormalities that (1) may share the same autoimmune-mediated origin affecting the brainstem, limbic, and diencephalic structures and (2) may occur in the setting of the paraneoplastic anti-Ma2-associated encephalitis.

Autonomic and inflammatory consequences of posttraumatic stress disorder and the link to cardiovascular disease.

PubMed

Brudey, Chevelle; Park, Jeanie; Wiaderkiewicz, Jan; Kobayashi, Ihori; Mellman, Thomas A; Marvar, Paul J

2015-08-15

Stress- and anxiety-related disorders are on the rise in both military and general populations. Over the next decade, it is predicted that treatment of these conditions, in particular, posttraumatic stress disorder (PTSD), along with its associated long-term comorbidities, will challenge the health care system. Multiple organ systems are adversely affected by PTSD, and PTSD is linked to cancer, arthritis, digestive disease, and cardiovascular disease. Evidence for a strong link between PTSD and cardiovascular disease is compelling, and this review describes current clinical data linking PTSD to cardiovascular disease, via inflammation, autonomic dysfunction, and the renin-angiotensin system. Recent clinical and preclinical evidence regarding the role of the renin-angiotensin system in the extinction of fear memory and relevance in PTSD-related immune and autonomic dysfunction is also addressed. Copyright © 2015 the American Physiological Society.

Multiple DSM-5 substance use disorders: A national study of US adults.

PubMed

McCabe, Sean Esteban; West, Brady T; Jutkiewicz, Emily M; Boyd, Carol J

2017-09-01

Our aim is to determine the lifetime and past-year prevalence estimates of multiple Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-5) substance use disorders (SUDs) among U.S. adults. The 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions featured in-person interviews with a nationally representative sample of adults aged 18 and older. The majority of past-year nonalcohol DSM-5 SUDs had at least 1 other co-occurring past-year SUD, ranging from 56.8% (SE = 3.4) for past-year prescription opioid use disorder to 97.5% (SE = 2.7) for past-year hallucinogen use disorder. In contrast, only 15.0% (SE = 0.6) of past-year alcohol use disorders had a co-occurring past-year SUD. The odds of past-year multiple SUDs were greater among males, younger adults, African-Americans, and those with mood, personality, posttraumatic stress, or multiple psychiatric disorders. Assessment, diagnosis, and treatment often focus on individual substance-specific SUDs rather than multiple SUDs, despite evidence for substantial rates of polysubstance use in clinical and epidemiological studies. There are notable differences in the prevalence of multiple SUDs between alcohol use disorders and other nonalcohol SUDs that have important clinical implications; for example, multiple SUDs are more persistent than individual SUDs. These findings suggest that clinical assessment and diagnosis should screen for multiple SUDs, especially among adults with nonalcohol DSM-5 SUDs. Copyright © 2017 John Wiley & Sons, Ltd.

Neurocognitive Allied Phenotypes for Schizophrenia and Bipolar Disorder

PubMed Central

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

2008-01-01

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

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

PubMed Central

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Nguyen, Lam Son; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A.; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Géraldine; Shaffer, Lisa G.; Rosenfeld, Jill A.; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F.; Hennekam, Raoul; Wieacker, Peter; Hübner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frédéric; Kalscheuer, Vera M.

2013-01-01

Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID). We used haplotype analysis, next-generation sequencing, array comparative genomic hybridization, and chromosome breakpoint mapping to identify the pathogenic mutations in families and simplex cases. Suspected disease variants were verified by cosegregation analysis. We identified disease-causing mutations in the zinc-finger gene ZC4H2 in four families affected by X-linked AMC plus ID and one family affected by cerebral palsy. Several heterozygous females were also affected, but to a lesser degree. Furthermore, we found two ZC4H2 deletions and one rearrangement in two female and one male unrelated simplex cases, respectively. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density. In zebrafish, antisense-morpholino-mediated zc4h2 knockdown caused abnormal swimming and impaired α-motoneuron development. All missense mutations identified herein failed to rescue the swimming defect of zebrafish morphants. We conclude that ZC4H2 point mutations, rearrangements, and small deletions cause a clinically variable broad-spectrum neurodevelopmental disorder of the central and peripheral nervous systems in both familial and simplex cases of both sexes. Our results highlight the importance of ZC4H2 for genetic testing of individuals presenting with ID plus muscle weakness and minor or major forms of AMC. PMID:23623388

Serotonin transporter gene and childhood trauma--a G × E effect on anxiety sensitivity.

PubMed

Klauke, Benedikt; Deckert, Jürgen; Reif, Andreas; Pauli, Paul; Zwanzger, Peter; Baumann, Christian; Arolt, Volker; Glöckner-Rist, Angelika; Domschke, Katharina

2011-12-21

Genetic factors and environmental factors are assumed to interactively influence the pathogenesis of anxiety disorders. Thus, a gene-environment interaction (G × E) study was conducted with respect to anxiety sensitivity (AS) as a promising intermediate phenotype of anxiety disorders. Healthy subjects (N = 363) were assessed for AS, childhood maltreatment (Childhood Trauma Questionnaire), and genotyped for functional serotonin transporter gene variants (5-HTTLPR/5-HTT rs25531). The influence of genetic and environmental variables on AS and its subdimensions was determined by a step-wise hierarchical regression and a multiple indicator multiple cause (MIMIC) model. A significant G × E effect of the more active 5-HTT genotypes and childhood maltreatment on AS was observed. Furthermore, genotype (LL)-childhood trauma interaction particularly influenced somatic AS subdimensions, whereas cognitive subdimensions were affected by childhood maltreatment only. Results indicate a G × E effect of the more active 5-HTT genotypes and childhood maltreatment on AS, with particular impact on its somatic subcomponent. © 2011 Wiley Periodicals, Inc.

Prenatal and postpartum care of women with substance use disorders.

PubMed

Gopman, Sarah

2014-06-01

The incidence of substance abuse in pregnancy is substantial and affects pregnancy health and outcomes. Multiple challenges exist in the identification of women with substance abuse disorders in pregnancy and the provision of care. A multidisciplinary approach has been shown to be most successful in providing comprehensive and effective care. This article outlines key aspects of prenatal and postpartum care, with a brief overview provided of intrapartum care. Issues covered include screening, opioid replacement therapy, comorbid medical and psychiatric conditions, environmental stressors, parenting preparation, pain management in labor and postpartum, breastfeeding guidance, prevention of relapse, and assistance with postpartum transition to primary care. Copyright © 2014 Elsevier Inc. All rights reserved.

The interactive role of distress tolerance and eating expectancies in bulimic symptoms among substance abusers.

PubMed

Lavender, Jason M; Happel, Kate; Anestis, Michael D; Tull, Matthew T; Gratz, Kim L

2015-01-01

Difficulties tolerating distress and the expectancy that eating will relieve negative affect have been linked with bulimic symptoms, which commonly co-occur with other forms of psychopathology characterized by emotion dysregulation (e.g., substance abuse). Indeed, problems with emotional functioning may be of particular relevance to bulimic symptoms in at-risk populations with heightened emotion dysregulation (such as substance use disorder patients). This study examined the interactive role of two emotion-related constructs (distress tolerance and the expectancy that eating relieves negative affect) in relation to bulimic symptoms among patients (N=93) recruited from a residential substance abuse treatment facility. Participants completed the Bulimia Test-Revised, the Positive and Negative Affect Schedule, the Distress Tolerance Scale, and the Eating Expectancy Inventory. A hierarchical multiple regression analysis was conducted to examine the main effects and interaction of distress tolerance and negative affect eating expectancies in relation to bulimic symptoms, controlling for participant gender and overall negative affect. Significant main effects were found for both distress tolerance and negative affect eating expectancies, and these two constructs were found to significantly interact in the prediction of bulimic symptoms. Interventions that address these constructs may be useful in treating those with bulimic symptoms, as well as those with co-occurring bulimic symptoms and substance use disorders. Copyright © 2014 Elsevier Ltd. All rights reserved.

The need for a disease-specific prospective pregnancy registry for multiple sclerosis (MS).

PubMed

Alwan, Sura; Chambers, Christina D; Armenti, Vincent T; Sadovnick, A Dessa

2015-01-01

Multiple sclerosis (MS) is the most commonly acquired neurological disorder affecting young adults of reproductive age with an approximately 3:1 female to male ratio. Although pregnancy is not contraindicated in MS, data are limited regarding pregnancy outcome among MS patients, and the safety or risk to the fetus associated with most maternal MS treatments, such as disease modifying therapies (DMTs), during pregnancy is unknown. We review available epidemiological and registry data on MS and pregnancy and discuss the need to initiate a North American Multiple Sclerosis Pregnancy Registry that will prospectively identify pregnancies in women with MS, obtain information on the disease, and its treatment during gestation and lactation and follow the children to determine their health status. Copyright © 2014 Elsevier B.V. All rights reserved.

Pelvic Floor Disorders in Female Veterans: What a Difference an X Makes

DTIC Science & Technology

2011-07-22

vaginal support has weakened  Known risk factors:  Vaginal deliveries  Multiple deliveries  High birth weight deliveries  Chronic cough – increase...2010 Backup slides: UTI, Lowe Study Symptoms of vaginitis and urinary tract infections are miserable, distracting, and significantly affect women’s...had been deployed, vaginal infections were experienced by 30.1% and urinary tract infections by 18.4% of them during deployment. Vaginal symptoms were

ErbB4 in Laminated Brain Structures: A Neurodevelopmental Approach to Schizophrenia

PubMed Central

Perez-Garcia, Carlos G.

2015-01-01

The susceptibility genes for schizophrenia Neuregulin-1 (NRG1) and ErbB4 have critical functions during brain development and in the adult. Alterations in the ErbB4 signaling pathway cause a variety of neurodevelopmental defects including deficiencies in neuronal migration, synaptic plasticity, and myelination. I have used the ErbB4-/- HER4heart KO mice to study the neurodevelopmental insults associated to deficiencies in the NRG1-ErbB4 signaling pathway and their potential implication with brain disorders such as schizophrenia, a chronic psychiatric disease affecting 1% of the population worldwide. ErbB4 deletion results in an array of neurodevelopmental deficits that are consistent with a schizophrenic model. First, similar defects appear in multiple brain structures, from the cortex to the cerebellum. Second, these defects affect multiple aspects of brain development, from deficits in neuronal migration to impairments in excitatory/inhibitory systems, including reductions in brain volume, cortical and cerebellar heterotopias, alterations in number and distribution of specific subpopulations of interneurons, deficiencies in the astrocytic and oligodendrocytic lineages, and additional insults in major brain structures. This suggests that alterations in specific neurodevelopmental genes that play similar functions in multiple neuroanatomical structures might account for some of the symptomatology observed in schizophrenic patients, such as defects in cognition. ErbB4 mutation uncovers flaws in brain development that are compatible with a neurodevelopmental model of schizophrenia, and it establishes a comprehensive model to study the basis of the disorder before symptoms are detected in the adult. PMID:26733804

Cacna1c haploinsufficiency leads to pro-social 50-kHz ultrasonic communication deficits in rats.

PubMed

Kisko, Theresa M; Braun, Moria D; Michels, Susanne; Witt, Stephanie H; Rietschel, Marcella; Culmsee, Carsten; Schwarting, Rainer K W; Wöhr, Markus

2018-06-20

The cross-disorder risk gene CACNA1C is strongly implicated in multiple neuropsychiatric disorders, including autism spectrum disorder (ASD), bipolar disorder (BPD) and schizophrenia (SCZ), with deficits in social functioning being common for all major neuropsychiatric disorders. In the present study, we explored the role of Cacna1c in regulating disorder-relevant behavioral phenotypes, focusing on socio-affective communication after weaning during the critical developmental period of adolescence in rats. To this aim, we used a newly developed genetic Cacna1c rat model and applied a truly reciprocal approach for studying communication through ultrasonic vocalizations, including both sender and receiver. Our results show that a deletion of Cacna1c leads to deficits in social behavior and pro-social 50-kHz ultrasonic communication in rats. Reduced levels of 50-kHz ultrasonic vocalizations emitted during rough-and-tumble play may suggest that Cacna1c haploinsufficient rats derive less reward from playful social interactions. Besides the emission of fewer 50-kHz ultrasonic vocalizations in the sender, Cacna1c deletion reduced social approach behavior elicited by playback of 50-kHz ultrasonic vocalizations. This indicates that Cacna1c haploinsufficiency has detrimental effects on 50-kHz ultrasonic communication in both sender and receiver. Together, these data suggest that Cacna1c plays a prominent role in regulating socio-affective communication in rats with relevance for ASD, BPD and SCZ.This article has an associated First Person interview with the first author of the paper. © 2018. Published by The Company of Biologists Ltd.

Family functioning mediates the association between parental depression and low self-esteem in adolescents.

PubMed

Krug, Susann; Wittchen, Hans-Ulrich; Lieb, Roselind; Beesdo-Baum, Katja; Knappe, Susanne

2016-10-01

The negative impact of parental depression on offsprings' development has been repeatedly documented. There is however little research on the potential pathways contributing to this association. The present study examined the relationship between parental depressive disorders, family functioning and adolescents' self-esteem. A community-based sample of 1040 participants aged 14-17 years and their parents was assessed including direct and indirect information on parental psychopathology based on the Munich-Composite International Diagnostic Interview (M-CIDI). Family functioning and youth self-esteem were assessed by self-report questionnaires using the McMaster Family Assessment Device (FAD) in parents and the "Aussagen-Liste zum Selbstwertgefühl" in adolescents. Findings from multiple regression analyses indicated positive associations between parental depressive disorders and dimensions of dysfunctional family functioning as well as between dysfunctional familial affective involvement and youth's positive self-esteem. The relationship between parental depression and self-esteem was partly mediated by familial affective involvement. Associations may be underestimated, since incidence for depressive disorders spans to the third decade of life. Consensus diagnoses for parental depressive disorders were based on direct and indirect information for maximum use of available data, neglecting familial load, chronicity of parental depressive disorders or comorbid conditions. Thus, specificity of the findings for the family transmission of depressive disorders remains yet to be determined. Findings contribute to understanding of the pathways on how parental depression impairs offsprings' view of themselves, and to consider family functioning as a possible target for preventive interventions. Copyright © 2016 Elsevier B.V. All rights reserved.

Affect Regulation and Purging: An Ecological Momentary Assessment Study in Purging Disorder

PubMed Central

Haedt-Matt, Alissa A.; Keel, Pamela K.

2015-01-01

Research suggests that affect may play an important role in the propensity to purge among women with Purging Disorder (PD). However, prior work has been constrained to cross-sectional or laboratory designs which impact temporal interpretations and ecological validity. This study examined the role of negative affect (NA) and positive affect (PA) in triggering and maintaining purging in PD using ecological momentary assessment. Women with PD (N=24) made multiple daily ratings of affect and behavior for two weeks. Multilevel models examined associations between affect and purging at different levels of analysis, including a novel analytic approach to address the specificity of changes in affect relative to purging behavior by comparing trajectories of change on purge versus non-purge days. For trajectories of affect over time, NA increased before purging and decreased following purging on purge days; however, only the decrease in NA following purging was significantly different from the trajectory of NA on non-purge days. Conversely, PA failed to increase before purging on purge days compared to a matched time-point on non-purge days. These findings suggest unique roles of PA in triggering and NA in maintaining purging in PD and support models in which purging functions to regulate affect. For comparisons of ratings before and after purging, NA increased and PA decreased after purging, highlighting how different analytic strategies produce different findings requiring integration into affect regulation models. These data provide insight into why women with PD purge after consuming normal amounts of food, a crucial first step for developing effective interventions. PMID:25688426

Quadruple Burden of HIV/AIDS, Tuberculosis, Chronic Intestinal Parasitoses, and Multiple Micronutrient Deficiency in Ethiopia: A Summary of Available Findings

PubMed Central

Amare, Bemnet; Moges, Beyene; Mulu, Andargachew; Yifru, Sisay; Kassu, Afework

2015-01-01

Human immunodeficiency virus (HIV), tuberculosis (TB), and helminthic infections are among the commonest public health problems in the sub-Saharan African countries like Ethiopia. Multiple micronutrient deficiencies also known as the “hidden hunger” are common in people living in these countries either playing a role in their pathogenesis or as consequences. This results in a vicious cycle of multiple micronutrient deficiencies and infection/disease progression. As infection is profoundly associated with nutritional status resulting from decreased nutrient intake, decreased nutrient absorption, and nutrient losses, micronutrient deficiencies affect immune system and impact infection and diseases progression. As a result, micronutrients, immunity, and infection are interrelated. The goal of this review is therefore to provide a summary of available findings regarding the “quadruple burden trouble” of HIV, TB, intestinal parasitic infections, and multiple micronutrient deficiencies to describe immune-modulating effects related to disorders. PMID:25767808

Quadruple burden of HIV/AIDS, tuberculosis, chronic intestinal parasitoses, and multiple micronutrient deficiency in ethiopia: a summary of available findings.

PubMed

Amare, Bemnet; Moges, Beyene; Mulu, Andargachew; Yifru, Sisay; Kassu, Afework

2015-01-01

Human immunodeficiency virus (HIV), tuberculosis (TB), and helminthic infections are among the commonest public health problems in the sub-Saharan African countries like Ethiopia. Multiple micronutrient deficiencies also known as the "hidden hunger" are common in people living in these countries either playing a role in their pathogenesis or as consequences. This results in a vicious cycle of multiple micronutrient deficiencies and infection/disease progression. As infection is profoundly associated with nutritional status resulting from decreased nutrient intake, decreased nutrient absorption, and nutrient losses, micronutrient deficiencies affect immune system and impact infection and diseases progression. As a result, micronutrients, immunity, and infection are interrelated. The goal of this review is therefore to provide a summary of available findings regarding the "quadruple burden trouble" of HIV, TB, intestinal parasitic infections, and multiple micronutrient deficiencies to describe immune-modulating effects related to disorders.

Dextromethorphan/quinidine: in pseudobulbar affect.

PubMed

Garnock-Jones, Karly P

2011-05-01

Pseudobulbar affect is characterized by uncontrollable, inappropriate laughing and/or crying that is either unrelated or out of proportion to the emotions felt by the patient and occurs in patients with neurological disorders, such as amyotrophic lateral sclerosis (ALS), multiple sclerosis or traumatic brain injury. Dextromethorphan/quinidine is indicated in the US for the treatment of pseudobulbar affect. Dextromethorphan, when its metabolism is inhibited by the coadministration of quinidine, has been shown to have a positive effect on the symptoms of pseudobulbar affect. Dextromethorphan/quinidine 20 mg/10 mg twice daily was associated with a significantly greater decrease in the rate of pseudobulbar affect episodes per day (primary endpoint) than placebo in the 12-week, randomized, double-blind, placebo-controlled, multicentre STAR trial (Safety, Tolerability, And efficacy Results trial of AVP-923 in PBA [pseudobulbar affect]) involving patients with pseudobulbar affect and ALS or multiple sclerosis. Moreover, the mean change from baseline in Center for Neurologic Study-Lability Scale score at 12 weeks was significantly greater among recipients of dextromethorphan/quinidine 20 mg/10 mg twice daily than those receiving placebo. Dextromethorphan/quinidine 20 mg/10 mg twice daily was generally well tolerated. The drug has been shown to cause dosage-dependent corrected QT interval (QTc) prolongation; however, in the STAR trial, dextromethorphan/quinidine 20 mg/10 mg twice daily appeared to be well tolerated with regard to QTc prolongation.

DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder.

PubMed

Walker, Rosie May; Christoforou, Andrea Nikie; McCartney, Daniel L; Morris, Stewart W; Kennedy, Nicholas A; Morten, Peter; Anderson, Susan Maguire; Torrance, Helen Scott; Macdonald, Alix; Sussmann, Jessika Elizabeth; Whalley, Heather Clare; Blackwood, Douglas H R; McIntosh, Andrew Mark; Porteous, David John; Evans, Kathryn Louise

2016-01-01

Bipolar disorder (BD) is a severe, familial psychiatric condition. Progress in understanding the aetiology of BD has been hampered by substantial phenotypic and genetic heterogeneity. We sought to mitigate these confounders by studying a multi-generational family multiply affected by BD and major depressive disorder (MDD), who carry an illness-linked haplotype on chromosome 4p. Within a family, aetiological heterogeneity is likely to be reduced, thus conferring greater power to detect illness-related changes. As accumulating evidence suggests that altered DNA methylation confers risk for BD and MDD, we compared genome-wide methylation between (i) affected carriers of the linked haplotype (ALH) and married-in controls (MIs), (ii) well unaffected haplotype carriers (ULH) and MI, (iii) ALH and ULH and (iv) all haplotype carriers (LH) and MI. Nominally significant differences in DNA methylation were observed in all comparisons, with differences withstanding correction for multiple testing when the ALH or LH group was compared to the MIs. In both comparisons, we observed increased methylation at a locus in FANCI, which was accompanied by increased FANCI expression in the ALH group. FANCI is part of the Fanconi anaemia complementation (FANC) gene family, which are mutated in Fanconi anaemia and participate in DNA repair. Interestingly, several FANC genes have been implicated in psychiatric disorders. Regional analyses of methylation differences identified loci implicated in psychiatric illness by genome-wide association studies, including CACNB2 and the major histocompatibility complex. Gene ontology analysis revealed enrichment for methylation differences in neurologically relevant genes. Our results highlight altered DNA methylation as a potential mechanism by which the linked haplotype might confer risk for mood disorders. Differences in the phenotypic outcome of haplotype carriers might, in part, arise from additional changes in DNA methylation that converge on neurologically important pathways. Further work is required to investigate the underlying mechanisms and functional consequences of the observed differences in methylation.

REM Sleep Behavior Disorder and Narcoleptic Features in Anti–Ma2-associated Encephalitis

PubMed Central

Compta, Yaroslau; Iranzo, Alex; Santamaría, Joan; Casamitjana, Roser; Graus, Francesc

2007-01-01

A 69-year-old man with anti-Ma2 paraneoplastic encephalitis presented with subacute onset of severe hypersomnia, memory loss, parkinsonism, and gaze palsy. A brain magnetic resonance imaging study showed bilateral damage in the dorsolateral midbrain, amygdala, and paramedian thalami. Videopolysomnography disclosed rapid eye movement (REM) sleep behavior disorder, and a Multiple Sleep Latency Test showed a mean sleep latency of 7 minutes and 4 sleep-onset REM periods. The level of hypocretin-1 in the cerebrospinal fluid was low (49 pg/mL). This observation illustrates that REM sleep behavior disorder and narcoleptic features are 2 REM-sleep abnormalities that (1) may share the same autoimmune-mediated origin affecting the brainstem, limbic, and diencephalic structures and (2) may occur in the setting of the paraneoplastic anti–Ma2-associated encephalitis. Citation: Compta Y; Iranzo A; Santamaría J et al. REM Sleep Behavior Disorder and Narcoleptic Features in Anti–Ma2-associated Encephalitis. SLEEP 2007;30(6):767-769. PMID:17580598

Is the Gut Microbiota a New Factor Contributing to Obesity and Its Metabolic Disorders?

PubMed Central

Harris, Kristina; Kassis, Amira; Major, Geneviève; Chou, Chieh J.

2012-01-01

The gut microbiota refers to the trillions of microorganisms residing in the intestine and is integral in multiple physiological processes of the host. Recent research has shown that gut bacteria play a role in metabolic disorders such as obesity, diabetes, and cardiovascular diseases. The mechanisms by which the gut microbiota affects metabolic diseases are by two major routes: (1) the innate immune response to the structural components of bacteria (e.g., lipopolysaccharide) resulting in inflammation and (2) bacterial metabolites of dietary compounds (e.g., SCFA from fiber), which have biological activities that regulate host functions. Gut microbiota has evolved with humans as a mutualistic partner, but dysbiosis in a form of altered gut metagenome and collected microbial activities, in combination with classic genetic and environmental factors, may promote the development of metabolic disorders. This paper reviews the available literature about the gut microbiota and aforementioned metabolic disorders and reveals the gaps in knowledge for future study. PMID:22315672

Perceived Discrimination in Patients With Psychiatric Disorder and Turkish Migration Background in Germany.

PubMed

Müller, Matthias J; Koch, Eckhardt

2016-07-01

Perceived discrimination (PD) has a negative impact on the course of psychiatric disorders. We have investigated PD in inpatients with affective or anxiety disorder and Turkish migration background (TP) or native Germans (GP). Migration-related, clinical, and sociodemographic data of n = 62 TP and n = 62 GP, matched for age, sex, and psychiatric diagnoses, were retrospectively analyzed. PD was assessed as one of 10 questions related to migration and acculturation (yes/no, severity 0-10). PD prevalence rates were compared between TP and GP; relationships of PD with other variables were analyzed using bivariate correlations and multiple regression analyses. A PD prevalence of 26% in TP and 1% in GP was found (odds ratio, 21.2 [2.7-165.8]). Migration background was the strongest predictor of PD in the total group. Within the TP sample, asylum-seeking status and migration-related distress were significantly predictive of PD. In patients with psychiatric disorder in Germany, PD seems to be strongly related to migration-related distress.

Neuroeconomic measures of social decision-making across the lifespan.

PubMed

Zhu, Lusha; Walsh, Daniel; Hsu, Ming

2012-01-01

Social and decision-making deficits are often the first symptoms of a striking number of neurodegenerative disorders associated with aging. These includes not only disorders that directly impact dopamine and basal ganglia, such as Parkinson's disorder, but also degeneration in which multiple neural pathways are affected over the course of normal aging. The impact of such deficits can be dramatic, as in cases of financial fraud, which disproportionately affect the elderly. Unlike memory and motor impairments, however, which are readily recognized as symptoms of more serious underlying neurological conditions, social and decision-making deficits often do not elicit comparable concern in the elderly. Furthermore, few behavioral measures exist to quantify these deficits, due in part to our limited knowledge of the core cognitive components or their neurobiological substrates. Here we probe age-related differences in decision-making using a game theory paradigm previously shown to dissociate contributions of basal ganglia and prefrontal regions to behavior. Combined with computational modeling, we provide evidence that age-related changes in elderly participants are driven primarily by an over-reliance in trial-and-error reinforcement learning that does not take into account the strategic context, which may underlie cognitive deficits that contribute to social vulnerability in elderly individuals.

Maximizing Exposure Therapy: An Inhibitory Learning Approach

PubMed Central

Craske, Michelle G.; Treanor, Michael; Conway, Chris; Zbozinek, Tomislav; Vervliet, Bram

2014-01-01

Exposure therapy is an effective approach for treating anxiety disorders, although a substantial number of individuals fail to benefit or experience a return of fear after treatment. Research suggests that anxious individuals show deficits in the mechanisms believed to underlie exposure therapy, such as inhibitory learning. Targeting these processes may help improve the efficacy of exposure-based procedures. Although evidence supports an inhibitory learning model of extinction, there has been little discussion of how to implement this model in clinical practice. The primary aim of this paper is to provide examples to clinicians for how to apply this model to optimize exposure therapy with anxious clients, in ways that distinguish it from a ‘fear habituation’ approach and ‘belief disconfirmation’ approach within standard cognitive-behavior therapy. Exposure optimization strategies include 1) expectancy violation, 2) deepened extinction, 3) occasional reinforced extinction, 4) removal of safety signals, 5) variability, 6) retrieval cues, 7) multiple contexts, and 8) affect labeling. Case studies illustrate methods of applying these techniques with a variety of anxiety disorders, including obsessive-compulsive disorder, posttraumatic stress disorder, social phobia, specific phobia, and panic disorder. PMID:24864005

Substance abuse, memory, and post-traumatic stress disorder.

PubMed

Tipps, Megan E; Raybuck, Jonathan D; Lattal, K Matthew

2014-07-01

A large body of literature demonstrates the effects of abused substances on memory. These effects differ depending on the drug, the pattern of delivery (acute or chronic), and the drug state at the time of learning or assessment. Substance use disorders involving these drugs are often comorbid with anxiety disorders, such as post-traumatic stress disorder (PTSD). When the cognitive effects of these drugs are considered in the context of the treatment of these disorders, it becomes clear that these drugs may play a deleterious role in the development, maintenance, and treatment of PTSD. In this review, we examine the literature evaluating the cognitive effects of three commonly abused drugs: nicotine, cocaine, and alcohol. These three drugs operate through both common and distinct neurobiological mechanisms and alter learning and memory in multiple ways. We consider how the cognitive and affective effects of these drugs interact with the acquisition, consolidation, and extinction of learned fear, and we discuss the potential impediments that substance abuse creates for the treatment of PTSD. Copyright © 2013 Elsevier Inc. All rights reserved.

Association between witnessing traumatic events and psychopathology in the South African Stress and Health Study

PubMed Central

Platt, Jonathan; Williams, David R.; Stein, Dan J.; Koenen, Karestan C.

2016-01-01

Background The high burden of witnessing traumatic events has been demonstrated in previous research in South Africa. However, previous work has focused on PTSD rather than a broader range of psychopathological outcomes. This study examined the association between witnessing trauma and multiple outcomes including mood, anxiety, and substance use disorders. Methods Regression models measured the odds of mood, anxiety, and substance use disorders among those who reported witnessing in the South African Stress and Health Study. Discrete-time survival analysis was used to examine whether witnessing was associated with earlier onset of mental disorders. Results Witnessing trauma was more commonly reported among males and those with low-average education. Posttraumatic stress disorder, mood, and anxiety disorders varied significantly with witnessing status, and witnessing was associated with exposure to a higher number of traumatic events compared to other types of traumatic events. Respondents reporting witnessing trauma had elevated odds of mood and anxiety disorders, but not substance use disorders. Conclusion Witnessing trauma is common in the South African population and results in increased risk of mood and anxiety disorders. Interventions aimed at reducing the burden of trauma and its outcomes must now increase their focus on bystanders and other observers, rather than just focusing on those directly affected. PMID:25773525

Association between witnessing traumatic events and psychopathology in the South African Stress and Health Study.

PubMed

Atwoli, Lukoye; Platt, Jonathan; Williams, David R; Stein, Dan J; Koenen, Karestan C

2015-08-01

The high burden of witnessing traumatic events has been demonstrated in previous research in South Africa. However, previous work has focused on PTSD rather than a broader range of psychopathological outcomes. This study examined the association between witnessing trauma and multiple outcomes including mood, anxiety, and substance use disorders. Regression models measured the odds of mood, anxiety, and substance use disorders among those who reported witnessing in the South African Stress and Health Study. Discrete-time survival analysis was used to examine whether witnessing was associated with earlier onset of mental disorders. Witnessing trauma was more commonly reported among males and those with low-average education. Posttraumatic stress disorder, mood, and anxiety disorders varied significantly with witnessing status, and witnessing was associated with exposure to a higher number of traumatic events compared to other types of traumatic events. Respondents reporting witnessing trauma had elevated odds of mood and anxiety disorders, but not substance use disorders. Witnessing trauma is common in the South African population and results in increased risk of mood and anxiety disorders. Interventions aimed at reducing the burden of trauma and its outcomes must now increase their focus on bystanders and other observers, rather than just focusing on those directly affected.

Assessment of dementia in nursing home residents by nurses and assistants: criteria validity and determinants.

PubMed

Sørensen, L; Foldspang, A; Gulmann, N C; Munk-Jørgensen, P

2001-06-01

To describe the criterion validity of nursing home staff's assessment of organic disorder compared with ICD-10 criteria, and to identify determinants of staff assessment of organic disorder. Two hundred and eighty-eight residents were diagnosed using the GMS-AGECAT. Nursing staff members were interviewed about the residents' activities of Daily Living, behavioural problems, orientation in surroundings and communication skills, and asked if the resident had an organic disorder. Multiple logistic regression was used to select the items that most strongly determined staff assessment of organic disorder. Sixty-two per cent of the residents were diagnosed by GMS-AGECAT as having organic disorder, 78% of these were correctly identified by the staff. Whether analysed among residents with or without organic disorder, or in the total group of residents, the staff assessment of the presence of organic disorder depended on a limited set of behavioural characteristics of the resident, namely 'going to the toilet in inappropriate places', 'saying things that do not make sense' and impairment in orientation. Staff comprehension of organic disorder resulted in over- as well as under-labelling of residents, a tendency that will affect communication with medical personnel and may lead to inadequate or wrong medical treatment and to negative performance as well as negative role expectations in everyday life in nursing homes.

Takayasu Arteritis in a Young Woman

PubMed Central

Saab, Fadi; Giugliano, Robert P.; Giugliano, Gregory R.

2009-01-01

Takayasu arteritis is a chronic, progressive, autoimmune, idiopathic, large-vessel vasculitis that usually affects young adults. The disease has been reported to occur in all races and ethnicities. The diffuse nature of this vasculitis can affect multiple-organ systems to varying degrees. Herein, we report the case of a young woman whose exertional angina and claudication were the initial presentation of active Takayasu arteritis. During more than 4 years of ongoing treatment, therapy, and follow-up, she has displayed differing disease symptoms of varying intensity. We discuss the challenges of managing Takayasu arteritis in our patient and describe different treatments for this rare vasculitic disorder. PMID:19876432

Reproductive Issues in Women with Turner Syndrome.

PubMed

Folsom, Lisal J; Fuqua, John S

2015-12-01

Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. Copyright © 2015 Elsevier Inc. All rights reserved.

Prevalence of Comorbidities, Overweight and Obesity in an International Sample of People with Multiple Sclerosis and Associations with Modifiable Lifestyle Factors.

PubMed

Marck, Claudia Helena; Neate, Sandra Leanne; Taylor, Keryn Louise; Weiland, Tracey Joy; Jelinek, George Alexander

2016-01-01

Multiple sclerosis (MS) is a chronic neurological disorder, often affecting young people. Comorbid disorders such as depression, anxiety and hypertension are common and can affect disease course, treatment, and quality of life (QOL) of people with MS (PwMS). The associations between comorbidities, body mass index (BMI) and health outcomes are not well studied in MS, although research shows most PwMS are overweight. Most data on the prevalence of comorbidities and obesity in PwMS comes from North American populations. This study describes the prevalence of comorbidities, overweight and obesity and associations with modifiable factors in an international sample of PwMS recruited online through social media, MS societies and websites. The online survey consisted of validated and researcher-devised instruments to assess self-reported health outcomes and lifestyle behaviors. Of the 2399 respondents, 22.5% were overweight, 19.4% were obese and 67.2% reported at least one comorbidity, with back pain (36.2%), depression (31.7%), anxiety (29.1%) and arthritis (13.7%) most prevalent and most limiting in daily activities. Obesity and most comorbid disorders were significantly more prevalent in North America. Obese participants were more likely to have comorbidities, especially diabetes (OR 4.8) and high blood pressure (OR 4.5) but also depression (OR 2.2). Being overweight, obese, or a former, or current smoker was associated with an increase in the number of comorbidities; while healthy diet, physical activity (borderline significant) and moderate alcohol consumption were associated with decreased number of comorbidities. Increasing number of comorbidities was related to worse QOL, increased odds of disability and prior relapse. Obese PwMS had higher odds of disability and lower QOL. The associations between BMI, comorbidities and health outcomes are likely to be bi-directional and associated with lifestyle behaviors. Preventing and treating comorbid disorders and obesity in PwMS is warranted, and advice regarding healthy and risky lifestyle may assist in improving health outcomes.

Relationship between alexithymia and coping strategies in patients with somatoform disorder

PubMed Central

Tominaga, Toshiyuki; Choi, Hyungin; Nagoshi, Yasuhide; Wada, Yoshihisa; Fukui, Kenji

2014-01-01

Purpose A multidimensional intervention integrating alexithymia, negative affect, and type of coping strategy is needed for the effective treatment of somatoform disorder; however, few studies have applied this approach to the three different dimensions of alexithymia in patients with somatoform disorder. The purpose of this study was to determine the relationship between type of coping strategy and three different dimensions of alexithymia expressed in patients. Patients and methods A total of 196 patients with somatoform disorder completed the 20-item Toronto Alexithymia Scale, the Zung Self-Rating Depression Scale, the Spielberger State–Trait Anxiety Inventory, the Somatosensory Amplification Scale, and the Lazarus Stress Coping Inventory. The relationships between alexithymia (Toronto Alexithymia Scale – 20 score and subscales), demographic variables, and psychological inventory scores were analyzed using Pearson’s correlation coefficients and stepwise multiple regression analysis. Results The mean Toronto Alexithymia Scale – 20 total score (56.1±10.57) was positively correlated with the number of physical symptoms as well as with psychopathology scores (Self-Rating Depression Scale, State–Trait Anxiety Inventory trait, state, and Somatosensory Amplification Scale), but negatively correlated with planful problem solving, confrontive coping, seeking social support, and positive reappraisal coping scores. With respect to coping strategy, multiple regression analyses revealed that “difficulty in identifying feelings” was positively associated with an escape–avoidance strategy, “difficulty in describing feelings” was negatively associated with a seeking social support strategy, and “externally oriented thinking” was negatively associated with a confrontive coping strategy. Conclusion Alexithymia was strongly associated with the number of somatic symptoms and negative affect. Patients with high “difficulty in describing feelings” tend to rely less on seeking social support, and patients with high “externally oriented thinking” tend to rely less on confrontive coping strategies. The coping skills intervention implemented should differ across individuals and should be based on the alexithymia dimension of each patient. PMID:24403835

Methylphenidate and Comorbid Anxiety Disorder in Children with both Chronic Multiple Tic Disorder and ADHD

ERIC Educational Resources Information Center

Gadow, Kenneth D.; Nolan, Edith E.

2011-01-01

Objective: To determine if comorbid anxiety disorder is associated with differential response to immediate release methylphenidate (MPH-IR) in children with both ADHD and chronic multiple tic disorder (CMTD). Method: Children with (n = 17) and without (n = 37) diagnosed anxiety disorder (ANX) were evaluated in an 8-week, placebo-controlled trial…

Incidence and Burden of Wheezing Disorders, Eczema, and Rhinitis in Children: findings from the Born in Bradford Cohort.

PubMed

Mebrahtu, Teumzghi F; Feltbower, Richard G; Parslow, Roger C

2016-11-01

Bradford city has high infant mortality and there is a major health concern in the community due to environmental pollution. The aim of the study was to investigate the incidence and burden of wheezing disorders, eczema, and rhinitis in children aged 3-7 years . It is a prospective cohort study; the participants were 13 734 children from the Born in Bradford cohort. There were a total of 22.1% (95% Confidence Interval (CI) 21.4, 22.8%), 52.4% (95% CI 51.5%, 53.2%), and 19.3% (95% CI 18.6, 19.9%) incidence cases of wheezing disorders, eczema, and rhinitis respectively. A total of 37% (95% CI 36.2%, 37.8%), 19.5% (95% CI 18.9%, 20.2%,) and 5.9% (95% CI 5.5%, 6.3%) of the children were affected by only one, two, and three diseases respectively. Boys to girls incidence rate ratios for wheezing disorders, eczema, and rhinitis was 1.41 (95% CI 1.31, 1.51), 1.02 (95% CI 0.97, 1.07), and 1.18 (95% CI 1.09, 1.28) respectively. The respective incidence rate ratios of Pakistani to White British were 0.94 (95% CI 0.87, 1.02), 1.31 (95% CI 1.24, 1.39), and 2.03 (95% CI 1.83, 2.25) respectively. This study shows that the burden of wheezing disorders, eczema, and rhinitis in this cohort is higher than previously reported in earlier studies. In addition, it indicates that while boys are more likely to suffer from wheezing disorders, rhinitis, and multiple diseases than girls, Pakistani children are more likely to suffer from eczema, rhinitis, and multiple diseases than White British children. © 2016 John Wiley & Sons Ltd.

Genetic mapping and predictive testing for multiple endocrine neoplasia type 1 (MEN1)

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

Pandit, S.D.; Read, C.; Liu, L.

1994-09-01

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with an estimated prevalance of 20-200 per million persons. It is characterized by the combined occurence of tumors involving two or more endocrine glands, namely the parathyroid glands, the endocrine pancreas and the anterior pituitary. This disorder affects virtually all age groups with an average range of 20-60 years. Linkage analysis mapped the MEN1 locus to 11q13 near the human muscle glycogen phosphorylase (PYGM) locus. Additional genetic mapping and deletion analysis studies have refined the region containing the MEN1 locus to a 3 cM interval flanked by markers PYGMmore » and D11S146/D11S97, a physical distance of approximately 1.5 Mb. We have identified 8 large families segregating MEN1 (71 affected from a population of 389 individuals). A high resolution reference map for the 11q13 region has been constructed using four new microsatellite markers, the CEPH reference (40 family) pedigree resource, and the CRI-MAP program package. Subsequent analyses using the LINKAGE program package and 8 MEN 1 families placed the MEN1 locus within the context of the microsatellite map. This map was used to develop a linkage-based predictive test. These markers have also been used to further refine the interval containing the MEN1 locus from the study of chromosome deletions (loss of heterozygosity, LOH studies) in paired sets of tumor and germline DNA from 87 MEN 1 affected individuals.« less

The pathophysiology, medical management, and dental implications of autism.

PubMed

Friedlander, Arthur H; Yagiela, John A; Paterno, Victoria I; Mahler, Michael E

2003-09-01

Autism is a lifelong, severe, developmental disorder that appears initially in infancy and early childhood and impairs the acquisition of some of the most important skills in human life. The disease is characterized by impaired social interactions, verbal and nonverbal communication deficiencies, limited activities and interest, and repetitive behaviors. Often accompanying the disorder are behavioral disturbances, such as self-mutilation and aggression, psychiatric symptoms, and seizures, which necessitate the administration of multiple medications to help the affected individual participate effectively in the educational and rehabilitative process. Dentists caring for these people must be familiar with the manifestations of the disease and its associated features so that they can garner the maximum level of cooperation. They must also be familiar with the medications used to treat the associated features of the disorder because many of these pharmaceuticals cause untoward orofacial and systemic reactions and may precipitate adverse interactions with dental therapeutic agents.

[Play therapy for a child with separation anxiety disorder].

PubMed

Wu, Y Y; Chiu, Y N; Soong, W T

1995-06-01

Separation anxiety disorder is characterized by severe and exceeding anxiety and fear when a child is facing separation with attachment objects. More over, it affected the child in language, emotional and social interest and development. These children usually brought to physician's attention due to refusal to go to school, social withdraw or multiple somatic complaints with attachment behavior wanted to be nearby or closed to the attachment objects. A child's early attachment relationship and previous separation experience play a major role in the formation of separation anxiety disorder. This report presents a psychoanalytically-oriented play therapy for a 2-year-8-month-old boy in 17 months period total of 54 sessions. According to the main themes in each session the process can be divided into 4 stages, namely establishing therapeutic relationship, expressing repressed emotions, management of transference, attachment and conflict in therapy, and self growth and termination. The formulation of this case and management were discussed.

Hypersomnia.

PubMed

Dauvilliers, Yves; Buguet, Alain

2005-01-01

Hypersomnia, a complaint of excessive daytime sleep or sleepiness, affects 4% to 6% of the population, with an impact on the everyday life of the patient Methodological tools to explore sleep and wakefulness (interview, questionnaires, sleep diary, polysomnography, Multiple Sleep Latency Test, Maintenance of Wakefulness Test) and psychomotor tests (for example, psychomotor vigilance task and Oxford Sleep Resistance or Osler Test) help distinguish between the causes of hypersomnia. In this article, the causes of hypersomnia are detailed following the conventional classification of hypersomnic syndromes: narcolepsy, idiopathic hypersomnia, recurrent hypersomnia, insufficient sleep syndrome, medication- and toxin-dependent sleepiness, hypersomnia associated with psychiatric disorders, hypersomnia associated with neurological disorders, posttraumatic hypersomnia, infection (with a special emphasis on the differences between bacterial and viral diseases compared with parasitic diseases, such as sleeping sickness) and hypersomnia, hypersomnia associated with metabolic or endocrine diseases, breathing-related sleep disorders and sleep apnea syndromes, and periodic limb movements in sleep.

Hypersomnia

PubMed Central

Dauvilliers, Yves; Buguet, Alain

2005-01-01

Hypersomnia, a complaint of excessive daytime sleep or sleepiness, affects 4% to 6% of the population, with an impact on the everyday life of the patient Methodological tools to explore sleep and wakefulness (interview, questionnaires, sleep diary, polysomnography Multiple Sleep Latency Test, Maintenance of Wakefulness Test) and psy-chomotor tests (for example, psychomotor vigilance task and Oxford Sleep Resistance or Osier Test) help distinguish between the causes of hypersomnia. In this article, the causes of hypersomnia are detailed following the conventional classification of hypersomnic syndromes: narcolepsy, idiopathic hypersomnia, recurrent hypersomnia, insufficient sleep syndrome, medication- and toxin-dependent sleepiness, hypersomnia associated with psychiatric disorders, hypersomnia associated with neurological disorders, posttraumatic hypersomnia, infection (with a special emphasis on the differences between bacterial and viral diseases compared with parasitic diseases, such as sleeping sickness) and hypersomnia, hypersomnia associated with metabolic or endocrine diseases, breathing-related sleep disorders and sleep apnea syndromes, and periodic limb movements in sleep. PMID:16416710

Adult Attention Deficit Hyperactivity Disorder Symptoms, Perceived Stress, and Well-Being: The Role of Early Maladaptive Schemata.

PubMed

Miklósi, Mónika; Máté, Orsolya; Somogyi, Klára; Szabó, Marianna

2016-05-01

Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent chronic neuropsychiatric disorders, severely affecting the emotional well-being of children as well as of adults. It has been suggested that individuals who experience symptoms of ADHD develop maladaptive schemata of failure, impaired self-discipline, social isolation, and shame. These schemata may then contribute to impaired emotional well-being by increasing unhelpful responses to stressful life events. However, to date, no empirical research has tested this theoretical proposition. In a sample of 204 nonclinical adults, we conducted a serial multiple mediator analysis, which supported the proposed model. More severe ADHD symptoms were associated with higher levels of perceived stress both directly and indirectly through stronger maladaptive schemata, which, in turn, were related to lower levels of emotional well-being. Results suggest that identifying and modifying maladaptive schemata may be an important addition to psychotherapy for adult ADHD patients.

Early identification and treatment of communication and swallowing deficits in Parkinson disease.

PubMed

Ciucci, Michelle R; Grant, Laura M; Rajamanickam, Eunice S Paul; Hilby, Breanna L; Blue, Katherine V; Jones, Corinne A; Kelm-Nelson, Cynthia A

2013-08-01

Parkinson disease (PD) is a complex, progressive, neurodegenerative disorder that leads to a wide range of deficits including fine and gross sensorimotor impairment, autonomic dysfunction, mood disorders, and cognitive decline. Traditionally, the focus for diagnosis and treatment has been on sensorimotor impairment related to dopamine depletion. It is now widely recognized, however, that PD-related pathology affects multiple central nervous system neurotransmitters and pathways. Communication and swallowing functions can be impaired even in the early stages, significantly affecting health and quality of life. The purpose of this article is to review the literature on early intervention for communication and swallowing impairment in PD. Overarching themes were that (1) studies and interpretation of data from studies in early PD are limited; (2) best therapy practices have not been established, in part due to the heterogeneous nature of PD; and (3) as communication and swallowing problems are pervasive in PD, further treatment research is essential. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Exploring the East-West Divide in Prevalence of Affective Disorder: A Case for Cultural Differences in Coping With Negative Emotion.

PubMed

De Vaus, June; Hornsey, Matthew J; Kuppens, Peter; Bastian, Brock

2017-10-01

Lifetime rates of clinical depression and anxiety in the West tend to be approximately 4 to 10 times greater than rates in Asia. In this review, we explore one possible reason for this cross-cultural difference, that Asian cultures think differently about emotion than do Western cultures and that these different systems of thought help explain why negative affect does not escalate into clinical disorder at the same rate. We review research from multiple disciplines-including cross-cultural psychology, social cognition, clinical psychology, and psychiatry-to make the case that the Eastern holistic principles of contradiction (each experience is associated with its opposite), change (the world exists in a state of constant flux), and context (the interconnectedness of all things) fundamentally shape people's experience of emotions in different cultures. We then review evidence for how these cultural differences influence how successfully people use common emotion regulation strategies such as rumination and suppression.

Gene Expression Profiling Differentiates Autism Case–Controls and Phenotypic Variants of Autism Spectrum Disorders: Evidence for Circadian Rhythm Dysfunction in Severe Autism

PubMed Central

Hu, Valerie W.; Sarachana, Tewarit; Kim, Kyung Soon; Nguyen, AnhThu; Kulkarni, Shreya; Steinberg, Mara E.; Luu, Truong; Lai, Yinglei; Lee, Norman H.

2009-01-01

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by delayed/abnormal language development, deficits in social interaction, repetitive behaviors and restricted interests. The heterogeneity in clinical presentation of ASD, likely due to different etiologies, complicates genetic/biological analyses of these disorders. DNA microarray analyses were conducted on 116 lymphoblastoid cell lines (LCL) from individuals with idiopathic autism who are divided into three phenotypic subgroups according to severity scores from the commonly used Autism Diagnostic Interview-Revised questionnaire and age-matched, nonautistic controls. Statistical analyses of gene expression data from control LCL against that of LCL from ASD probands identify genes for which expression levels are either quantitatively or qualitatively associated with phenotypic severity. Comparison of the significant differentially expressed genes from each subgroup relative to the control group reveals differentially expressed genes unique to each subgroup as well as genes in common across subgroups. Among the findings unique to the most severely affected ASD group are 15 genes that regulate circadian rhythm, which has been shown to have multiple effects on neurological as well as metabolic functions commonly dysregulated in autism. Among the genes common to all three subgroups of ASD are 20 novel genes mostly in putative noncoding regions, which appear to associate with androgen sensitivity and which may underlie the strong 4:1 bias toward affected males. PMID:19418574

Eating attitudes and body image in ethnic Japanese and Caucasian adolescent girls in the city of São Paulo, Brazil.

PubMed

Sampei, Míriam A; Sigulem, Dirce M; Novo, Neil F; Juliano, Yara; Colugnati, Fernando A B

2009-01-01

Despite investigations into the rapid increase in eating disorders across diverse ethnic groups, conclusions concerning ethnicity and eating disorders are contradictory. The objective of the present study was to investigate eating attitudes in ethnic Japanese and Caucasian adolescents in Brazil. The influence of body mass index (BMI), menarche and social-affective relationships on the development of eating disorders was also assessed. Questionnaires evaluating the incidence of eating disorders and the influence of social-affective relationships were applied to 544 Japanese-Brazilian and Caucasian adolescent girls: 10 to 11-year-old Japanese-Brazilian (n = 122) and Caucasian (n = 176) pre-menarcheal adolescents, and 16 to 17-year-old Japanese-Brazilian (n = 71) and Caucasian (n = 175) post-menarcheal adolescents. Caucasian girls obtained higher scores on the Eating Attitudes Test (EAT-26), showed greater body image dissatisfaction, dieted more often and had more diet models introduced by their mothers and peers than the Japanese-Brazilian girls. CONCLUSION The Caucasian adolescents overall appeared to be more sensitive to aesthetic and social pressures regarding body image than the Japanese adolescents. The high incidence of EAT-26 scores above 20 in the Caucasian pre-menarcheal group indicates that individual body image concerns are developing at an earlier age. Multiple logistic regression revealed several associations between mother-teen interactions and the development of abnormal eating attitudes.

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.

PubMed

Capuano, Alessandra; Bucciotti, Francesco; Farwell, Kelly D; Tippin Davis, Brigette; Mroske, Cameron; Hulick, Peter J; Weissman, Scott M; Gao, Qingshen; Spessotto, Paola; Colombatti, Alfonso; Doliana, Roberto

2016-01-01

Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered disease genes. By performing trio-exome sequencing of a 55-year-old male proband presenting with multiple symptoms indicative of a connective disorder, we identified a heterozygous missense alteration in exon 1 of the Elastin Microfibril Interfacer 1 (EMILIN1) gene, c.64G>A (p.A22T). The proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Sanger sequencing confirmed that the EMILIN1 alteration, which maps around the signal peptide cleavage site, segregated with disease in the affected proband, mother, and son. The impaired secretion of EMILIN-1 in cells transfected with the mutant p.A22T coincided with abnormal protein accumulation within the endoplasmic reticulum. In skin biopsy of the proband, we detected less EMILIN-1 with disorganized and abnormal coarse fibrils, aggregated deposits underneath the epidermis basal lamina, and dermal cells apoptosis. These findings collectively suggest that EMILIN1 may represent a new disease gene associated with an autosomal-dominant connective tissue disorder. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

Traumatic brain injury, mental health, substance use, and offending among incarcerated young people.

PubMed

Moore, Elizabeth; Indig, Devon; Haysom, Leigh

2014-01-01

Despite being at high risk, little is known about traumatic brain injuries (TBIs) among incarcerated young people. This study aims to describe the prevalence of TBI among incarcerated young people and assess the association with mental health, substance use, and offending behaviors. The 2009 NSW Young People in Custody Health Survey was conducted in 9 juvenile detention centers. A total of 361 young people agreed to participate, representing 80% of all incarcerated young people. Young people were asked if they ever had a head injury where they became unconscious or "blacked-out." The survey used the Kiddie Schedule for Affective Disorders for Children to assess for psychiatric disorders, the Alcohol Use Disorder Identification Test, and the Severity of Dependence Scale to measure problematic substance use. The sample comprised 88% man, 48% Aboriginal, with an average age of 17 years. One-third (32%) of young people reported ever experiencing a TBI, and 13% reported multiple TBIs. The majority (92%) of "most serious" TBIs were defined as mild, and the most common cause was an assault (62% woman, 34% man). Young people who reported a history of TBI (compared with those reporting no TBI) were significantly more likely to be diagnosed with a mental health disorder, psychological distress, a history of bullying, problematic substance use, participation in fights, and offending behaviors. Reporting multiple (>2) TBIs conferred a higher risk of psychological disorders and problematic substance use. Incarcerated young people have high rates of TBI. Enhanced detection of TBI among incarcerated young people will assist clinicians in addressing the associated psychosocial sequelae.

Familiality of neural preparation and response control in childhood attention deficit-hyperactivity disorder.

PubMed

Albrecht, B; Brandeis, D; Uebel, H; Valko, L; Heinrich, H; Drechsler, R; Heise, A; Müller, U C; Steinhausen, H-C; Rothenberger, A; Banaschewski, T

2013-09-01

Patients with attention deficit-hyperactivity disorder (ADHD) exhibit difficulties in multiple attentional functions. Although high heritability rates suggest a strong genetic impact, aetiological pathways from genes and environmental factors to the ADHD phenotype are not well understood. Tracking the time course of deviant task processing using event-related electrophysiological brain activity should characterize the impact of familiality on the sequence of cognitive functions from preparation to response control in ADHD. Method Preparation and response control were assessed using behavioural and electrophysiological parameters of two versions of a cued continuous performance test with varying attentional load in boys with ADHD combined type (n = 97), their non-affected siblings (n = 27) and control children without a family history of ADHD (n = 43). Children with ADHD and non-affected siblings showed more variable performance and made more omission errors than controls. The preparatory Cue-P3 and contingent negative variation (CNV) following cues were reduced in both ADHD children and their non-affected siblings compared with controls. The NoGo-P3 was diminished in ADHD compared with controls whilst non-affected siblings were located intermediate but did not differ from both other groups. No clear familiality effects were found for the Go-P3. Better task performance was further associated with higher CNV and P3 amplitudes. Impairments in performance and electrophysiological parameters reflecting preparatory processes and to some extend also for inhibitory response control, especially under high attentional load, appeared to be familially driven in ADHD and may thus constitute functionally relevant endophenotypes for the disorder.

Transcriptional Elongation Regulator 1 Affects Transcription and Splicing of Genes Associated with Cellular Morphology and Cytoskeleton Dynamics and Is Required for Neurite Outgrowth in Neuroblastoma Cells and Primary Neuronal Cultures.

PubMed

Muñoz-Cobo, Juan Pablo; Sánchez-Hernández, Noemí; Gutiérrez, Sara; El Yousfi, Younes; Montes, Marta; Gallego, Carme; Hernández-Munain, Cristina; Suñé, Carlos

2017-12-01

TCERG1 is a highly conserved human protein implicated in interactions with the transcriptional and splicing machinery that is associated with neurodegenerative disorders. Biochemical, neuropathological, and genetic evidence suggests an important role for TCERG1 in Huntington's disease (HD) pathogenesis. At present, the molecular mechanism underlying TCERG1-mediated neuronal effects is unknown. Here, we show that TCERG1 depletion led to widespread alterations in mRNA processing that affected different types of alternative transcriptional or splicing events, indicating that TCERG1 plays a broad role in the regulation of alternative splicing. We observed considerable changes in the transcription and alternative splicing patterns of genes involved in cytoskeleton dynamics and neurite outgrowth. Accordingly, TCERG1 depletion in the neuroblastoma SH-SY5Y cell line and primary mouse neurons affected morphogenesis and resulted in reduced dendritic outgrowth, with a major effect on dendrite ramification and branching complexity. These defects could be rescued by ectopic expression of TCERG1. Our results indicate that TCERG1 affects expression of multiple mRNAs involved in neuron projection development, whose misregulation may be involved in TCERG1-linked neurological disorders.

Combined Effects of Primary and Tertiary Blast on Rat Brain: Characterization of a Model of Blast-induced Mild Traumatic Brain Injury

DTIC Science & Technology

2015-03-01

known as concussions ) affect ~1.3 million individuals in the US annually mostly during contact sports such as boxing, hockey, and football [1, 2]. In...disorder which has been observed in several athletes with a history of multiple concussions . In particular, phosphorylated Tau (pTau) protein...Accreditation of Laboratory Animal Care International. References [1] Laker SR. Epidemiology of concussion and mild traumatic brain injury. PM R

Genetic and Diagnostic Biomarker Development in ASD Toddlers Using Resting State Functional MRI

DTIC Science & Technology

2016-09-01

schizophrenia .    Specifically,   we  used  source-­‐based  morphometry,  a  multivariate...variation  in  the   general  population,  and  verified  its  relevance  to   schizophrenia  in  an  independent  case...it  has  been  linked  to  affective  disorders  and   schizophrenia  in  multiple  populations.  Thus,

Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata.

PubMed

Fairbanks, Timothy; Emil, Sherif

2005-08-01

Rhizomelic chondrodysplasia punctata (RCP), a rare autosomal recessive disease characterized by a disorder of peroxisome metabolism, has been shown to affect multiple organ systems. A neonate presenting with a colonic perforation in the first few hours of life was subsequently diagnosed with RCP. A literature search revealed no previous reports of intestinal perforation associated with RCP. Intestinal perforation should be added to the list of medical complications associated with RCP.

Aerophagia due to abdomino-phrenic dyssynergia in a 2-year-old child.

PubMed

Ercoli, Pablo; García, Belinda; Del Campo, Enrique; Pinillos, Sergio

2018-05-01

We report the case of a previously healthy 2-year-old child who presented with significant abdominal distension. After several interventions that proved ineffective, pathologic aerophagia was eventually diagnosed. In pediatrics, pathologic aerophagia is an uncommon disorder that almost exclusively affects children with an underlying neurological condition. It may lead to multiple diagnostic tests and unnecessary aggressive therapies. A recent case report associated aerophagia with a novel concept of abdomino-phrenic dyssynergia.

Assessment of anorexia nervosa in children and adolescents.

PubMed

Weaver, Laurel; Liebman, Ronald

2011-04-01

Anorexia nervosa is a debilitating illness that affects mostly females and their families. Multiple physiologic disturbances are present and can be life-threatening. Nutritional rehabilitation is the foremost initial treatment goal. Assessment skills include understanding the physiologic, developmental, and psychiatric status of the individual as well as engagement of the family system. A comprehensive assessment that stimulates patient and family to successfully engage in treatment is the cornerstone of good clinical care for this highly disabling disorder.

Personality, Driving Behavior and Mental Disorders Factors as Predictors of Road Traffic Accidents Based on Logistic Regression.

PubMed

Alavi, Seyyed Salman; Mohammadi, Mohammad Reza; Souri, Hamid; Mohammadi Kalhori, Soroush; Jannatifard, Fereshteh; Sepahbodi, Ghazal

2017-01-01

The aim of this study was to evaluate the effect of variables such as personality traits, driving behavior and mental illness on road traffic accidents among the drivers with accidents and those without road crash. In this cohort study, 800 bus and truck drivers were recruited. Participants were selected among drivers who referred to Imam Sajjad Hospital (Tehran, Iran) during 2013-2015. The Manchester driving behavior questionnaire (MDBQ), big five personality test (NEO personality inventory) and semi-structured interview (schizophrenia and affective disorders scale) were used. After two years, we surveyed all accidents due to human factors that involved the recruited drivers. The data were analyzed using the SPSS software by performing the descriptive statistics, t-test, and multiple logistic regression analysis methods. P values less than 0.05 were considered statistically significant. In terms of controlling the effective and demographic variables, the findings revealed significant differences between the two groups of drivers that were and were not involved in road accidents. In addition, it was found that depression and anxiety could increase the odds ratio (OR) of road accidents by 2.4- and 2.7-folds, respectively (P=0.04, P=0.004). It is noteworthy to mention that neuroticism alone can increase the odds of road accidents by 1.1-fold (P=0.009), but other personality factors did not have a significant effect on the equation. The results revealed that some mental disorders affect the incidence of road collisions. Considering the importance and sensitivity of driving behavior, it is necessary to evaluate multiple psychological factors influencing drivers before and after receiving or renewing their driver's license.

Personality, Driving Behavior and Mental Disorders Factors as Predictors of Road Traffic Accidents Based on Logistic Regression

PubMed Central

Alavi, Seyyed Salman; Mohammadi, Mohammad Reza; Souri, Hamid; Mohammadi Kalhori, Soroush; Jannatifard, Fereshteh; Sepahbodi, Ghazal

2017-01-01

Background: The aim of this study was to evaluate the effect of variables such as personality traits, driving behavior and mental illness on road traffic accidents among the drivers with accidents and those without road crash. Methods: In this cohort study, 800 bus and truck drivers were recruited. Participants were selected among drivers who referred to Imam Sajjad Hospital (Tehran, Iran) during 2013-2015. The Manchester driving behavior questionnaire (MDBQ), big five personality test (NEO personality inventory) and semi-structured interview (schizophrenia and affective disorders scale) were used. After two years, we surveyed all accidents due to human factors that involved the recruited drivers. The data were analyzed using the SPSS software by performing the descriptive statistics, t-test, and multiple logistic regression analysis methods. P values less than 0.05 were considered statistically significant. Results: In terms of controlling the effective and demographic variables, the findings revealed significant differences between the two groups of drivers that were and were not involved in road accidents. In addition, it was found that depression and anxiety could increase the odds ratio (OR) of road accidents by 2.4- and 2.7-folds, respectively (P=0.04, P=0.004). It is noteworthy to mention that neuroticism alone can increase the odds of road accidents by 1.1-fold (P=0.009), but other personality factors did not have a significant effect on the equation. Conclusion: The results revealed that some mental disorders affect the incidence of road collisions. Considering the importance and sensitivity of driving behavior, it is necessary to evaluate multiple psychological factors influencing drivers before and after receiving or renewing their driver’s license. PMID:28293047

Safety, efficacy, actions, and patient acceptability of drospirenone/ethinyl estradiol contraceptive pills in the treatment of premenstrual dysphoric disorder.

PubMed

Breech, Lesley L; Braverman, Paula K

2010-08-09

Premenstrual dysphoric disorder (PMDD) is estimated to affect 3%-8% of reproductive age women. Multiple therapeutic modalities have been evaluated with varying efficacy for the associated somatic and mood symptoms. The majority of older studies had shown that oral contraceptive pills (OCs) were most effective for the physical symptoms. However, newer OCs containing a novel progestin, drospirenone, have shown promise in alleviating both the somatic and affective/behavioral symptoms. This progestin, which is a derivative of spironolactone, has both antimineralocorticoid and antiandrogenic activity. A 24/4 formulation containing 20 μg of ethinyl estradiol has been found effective in randomized double-blind placebo-controlled trials utilizing established scales documenting symptoms associated with PMDD. Multiple studies have shown that drospirenone-containing OCs are safe without evidence of clinically adverse effects on carbohydrate metabolism, lipids, blood pressure, weight, serum potassium or increased thrombotic events compared to other low dose OCs. In addition, significant improvements have been demonstrated in acne, hirsutism, and fluid retention symptoms. Several open label studies demonstrated good patient compliance and reported satisfaction with the method. Because of the significant placebo effect demonstrated in the blinded placebo-controlled trials, additional large randomized placebo-controlled trials are needed to confirm the efficacy of the drospirenone OCs in the treatment of PMDD. However, this OC formulation appears to be a promising therapeutic modality.

Safety, efficacy, actions, and patient acceptability of drospirenone/ethinyl estradiol contraceptive pills in the treatment of premenstrual dysphoric disorder

PubMed Central

Breech, Lesley L; Braverman, Paula K

2010-01-01

Premenstrual dysphoric disorder (PMDD) is estimated to affect 3%–8% of reproductive age women. Multiple therapeutic modalities have been evaluated with varying efficacy for the associated somatic and mood symptoms. The majority of older studies had shown that oral contraceptive pills (OCs) were most effective for the physical symptoms. However, newer OCs containing a novel progestin, drospirenone, have shown promise in alleviating both the somatic and affective/behavioral symptoms. This progestin, which is a derivative of spironolactone, has both antimineralocorticoid and antiandrogenic activity. A 24/4 formulation containing 20 μg of ethinyl estradiol has been found effective in randomized double-blind placebo-controlled trials utilizing established scales documenting symptoms associated with PMDD. Multiple studies have shown that drospirenone-containing OCs are safe without evidence of clinically adverse effects on carbohydrate metabolism, lipids, blood pressure, weight, serum potassium or increased thrombotic events compared to other low dose OCs. In addition, significant improvements have been demonstrated in acne, hirsutism, and fluid retention symptoms. Several open label studies demonstrated good patient compliance and reported satisfaction with the method. Because of the significant placebo effect demonstrated in the blinded placebo-controlled trials, additional large randomized placebo-controlled trials are needed to confirm the efficacy of the drospirenone OCs in the treatment of PMDD. However, this OC formulation appears to be a promising therapeutic modality. PMID:21072278

History of Cognitive-Behavioral Therapy (CBT) in Youth

PubMed Central

Benjamin, Courtney L.; Puleo, Connor M.; Settipani, Cara A.; Brodman, Douglas M.; Edmunds, Julie M.; Cummings, Colleen M.

2011-01-01

Synopsis CBT represents a combination of behavioral and cognitive theories of human behavior and psychopathology, and a melding of emotional, familial, and peer influences. The numerous intervention strategies that comprise CBT reflect its complex and integrative nature and include such topics as extinction, habituation, modeling, cognitive restructuring, problem-solving, and the development of coping strategies, mastery, and a sense of self-control. CBT targets multiple areas of potential vulnerability (e.g., cognitive, behavioral, affective) with developmentally-guided strategies and traverses multiple intervention pathways. Although CBT is often considered the “first line treatment” for many psychological disorders in youth, additional work is necessary to address treatment non-responders and to facilitate the dissemination of efficacious CBT approaches. PMID:21440849

Pain and emotion as predictive factors of interoception in fibromyalgia

PubMed Central

Borg, Céline; Chouchou, Florian; Dayot-Gorlero, Jenny; Zimmerman, Perrine; Maudoux, Delphine; Laurent, Bernard; Michael, George A

2018-01-01

Introduction This study investigated interoception in fibromyalgia (FM), a disorder characterized by chronic pain accompanied by mood deregulation. Based on observations on the relationship between somatosensory processing and pain in FM and considering the affective symptoms of this disorder, we tested in FM three dimensions of interoception: interoceptive accuracy (IA), interoceptive awareness (IAW) and interoceptive sensibility (IS). Materials and methods Twenty-one female FM patients (Mage = 50.3) and 21 female matched controls (Mage = 46.3) completed a heartbeat tracking task as an assessment of IA, rated confidence in their responses as a measure of IAW and completed the Multidimensional Assessment of Interoceptive Awareness as a measure of IS. Furthermore, they completed self-report scales that, according to a principal component analysis, targeted anxiety, emotional consciousness and pain-related affect and reactions. Results Multiple regression analyses showed that increased pain-related affect and reactions decrease IA in FM. When the results of each group were examined separately, such effect was found only in FM patients. On its turn, IS was predicted by emotional consciousness and pain-related affect and reactions, but these effects did not differ between FM and controls. Finally, none of the variables we used predicted IAW. Discussion Pain-related affect and reactions in FM patients can reduce their interoceptive ability. Our results help to better understand the integration between bodily signals and emotional processing in chronic pain. PMID:29719416

Over-expression of XIST, the Master Gene for X Chromosome Inactivation, in Females With Major Affective Disorders

PubMed Central

Ji, Baohu; Higa, Kerin K.; Kelsoe, John R.; Zhou, Xianjin

2015-01-01

Background Psychiatric disorders are common mental disorders without a pathological biomarker. Classic genetic studies found that an extra X chromosome frequently causes psychiatric symptoms in patients with either Klinefelter syndrome (XXY) or Triple X syndrome (XXX). Over-dosage of some X-linked escapee genes was suggested to cause psychiatric disorders. However, relevance of these rare genetic diseases to the pathogenesis of psychiatric disorders in the general population of psychiatric patients is unknown. Methods XIST and several X-linked genes were studied in 36 lymphoblastoid cell lines from healthy females and 60 lymphoblastoid cell lines from female patients with either bipolar disorder or recurrent major depression. XIST and KDM5C expression was also quantified in 48 RNA samples from postmortem human brains of healthy female controls and female psychiatric patients. Findings We found that the XIST gene, a master in control of X chromosome inactivation (XCI), is significantly over-expressed (p = 1 × 10− 7, corrected after multiple comparisons) in the lymphoblastoid cells of female patients with either bipolar disorder or major depression. The X-linked escapee gene KDM5C also displays significant up-regulation (p = 5.3 × 10− 7, corrected after multiple comparisons) in the patients' cells. Expression of XIST and KDM5C is highly correlated (Pearson's coefficient, r = 0.78, p = 1.3 × 10− 13). Studies on human postmortem brains supported over-expression of the XIST gene in female psychiatric patients. Interpretations We propose that over-expression of XIST may cause or result from subtle alteration of XCI, which up-regulates the expression of some X-linked escapee genes including KDM5C. Over-expression of X-linked genes could be a common mechanism for the development of psychiatric disorders between patients with those rare genetic diseases and the general population of female psychiatric patients with XIST over-expression. Our studies suggest that XIST and KDM5C expression could be used as a biological marker for diagnosis of psychiatric disorders in a significantly large subset of female patients. Research in context Due to lack of biological markers, diagnosis and treatment of psychiatric disorders are subjective. There is utmost urgency to identify biomarkers for clinics, research, and drug development. We found that XIST and KDM5C gene expression may be used as a biological marker for diagnosis of major affective disorders in a significantly large subset of female patients from the general population. Our studies show that over-expression of XIST and some X-linked escapee genes may be a common mechanism for development of psychiatric disorders between the patients with rare genetic diseases (XXY or XXX) and the general population of female psychiatric patients. PMID:26425698

Treating the Synapse in Major Psychiatric Disorders: The Role of Postsynaptic Density Network in Dopamine-Glutamate Interplay and Psychopharmacologic Drugs Molecular Actions

PubMed Central

Tomasetti, Carmine; Iasevoli, Felice; Buonaguro, Elisabetta Filomena; De Berardis, Domenico; Fornaro, Michele; Fiengo, Annastasia Lucia Carmela; Martinotti, Giovanni; Orsolini, Laura; Valchera, Alessandro; Di Giannantonio, Massimo; de Bartolomeis, Andrea

2017-01-01

Dopamine-glutamate interplay dysfunctions have been suggested as pathophysiological key determinants of major psychotic disorders, above all schizophrenia and mood disorders. For the most part, synaptic interactions between dopamine and glutamate signaling pathways take part in the postsynaptic density, a specialized ultrastructure localized under the membrane of glutamatergic excitatory synapses. Multiple proteins, with the role of adaptors, regulators, effectors, and scaffolds compose the postsynaptic density network. They form structural and functional crossroads where multiple signals, starting at membrane receptors, are received, elaborated, integrated, and routed to appropriate nuclear targets. Moreover, transductional pathways belonging to different receptors may be functionally interconnected through postsynaptic density molecules. Several studies have demonstrated that psychopharmacologic drugs may differentially affect the expression and function of postsynaptic genes and proteins, depending upon the peculiar receptor profile of each compound. Thus, through postsynaptic network modulation, these drugs may induce dopamine-glutamate synaptic remodeling, which is at the basis of their long-term physiologic effects. In this review, we will discuss the role of postsynaptic proteins in dopamine-glutamate signals integration, as well as the peculiar impact of different psychotropic drugs used in clinical practice on postsynaptic remodeling, thereby trying to point out the possible future molecular targets of “synapse-based” psychiatric therapeutic strategies. PMID:28085108

Genetics Home Reference: seasonal affective disorder

MedlinePlus

... seasonal affective disorder are complex. A shortage of sunlight contributes to the development of the disorder in the fall and winter months, and too much sunlight is associated with seasonal affective disorder in the ...

Anti-Ma2 paraneoplastic encephalitis associated with testicular germ cell tumor treated by carboplatin, etoposide and bleomycin.

PubMed

Kimura, Masaki; Onozawa, Mizuki; Fujisaki, Akira; Arakawa, Takashi; Takeda, Katsuhiko; Dalmau, Joseph; Hattori, Kazunori

2008-10-01

Anti-Ma2-associated encephalitis is a paraneoplastic disorder that predominantly affects the limbic system, diencephalon and brainstem, and is usually associated with tumors of the testis. We report a 35-year-old man with a right testicular mass who presented with multiple neurological complains, and clinical, serological and radiological features compatible with anti-Ma2-associated encephalitis. After three courses of carboplatin, etoposide and bleomycin for metastatic testicular germ-cell tumor, all elevated tumor markers normalized and the retroperitoneal metastases disappeared, but the neurological disorder deteriorated. To our knowledge, this is the first case in which orchiectomy followed by carboplatin, etoposide and bleomycin for a testicular tumor with anti-Ma2 encephalitis was performed.

Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism.

PubMed

Yu, Li; Wu, YiMing; Wu, Bai-Lin

2015-10-01

Autism spectrum disorder (ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.

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.

Anderson localization of partially incoherent light

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

Capeta, D.; Radic, J.; Buljan, H.

We study Anderson localization and propagation of partially spatially incoherent wavepackets in linear disordered potentials, motivated by the insight that interference phenomena resulting from multiple scattering are affected by the coherence of the waves. We find that localization is delayed by incoherence: the more incoherent the waves are, the longer they diffusively spread while propagating in the medium. However, if all the eigenmodes of the system are exponentially localized (as in one- and two-dimensional disordered systems), any partially incoherent wavepacket eventually exhibits localization with exponentially decaying tails, after sufficiently long propagation distances. Interestingly, we find that the asymptotic behavior ofmore » the incoherent beam is similar to that of a single instantaneous coherent realization of the beam.« less

[Non-motor symptoms in Parkinson's disease: cognition and behavior].

PubMed

Bonnet, Anne Marie; Czernecki, Virginie

2013-09-01

Although the diagnosis of Parkinson disease is based on motor symptoms, it is now well known that non-motor symptoms are an integral part of this pathology, involving in fact multiple systems. These non-motor symptoms affect large population of patients and can appear sometimes before the motor disorders. The non-motor symptoms include mainly neuropsychological difficulties, neuropsychiatric symptoms, and autonomic disorders, but involve also pain and sleep disturbances for example. Depression may occur at any stage of the disease, and consists in major depressive disorder, minor depressive disorder, and dysthymia. During the course of the disease, 50% of patients experience anxiety. Apathy is present in up to 30-40% of patients, due to loss of motivation, appearing in emotional, intellectual and behavioral domains. Dopamine dysregulation syndrome and impulse control disorders are not rare, and in relation with dopaminergic therapies. Impulse control disorders include pathological gambling, hyper sexuality, compulsive shopping, and eating disorder. Visual hallucinations can occur in 30% of patients, mostly induced by dopaminergic therapies. Often, they have deeper impact on the quality of life than the motor symptoms themselves, which stay the focus of attention during consulting. Identifying those can help in providing better care with a positive impact on the quality of life of the patients.

Symptoms of major depressive disorder subsequent to child maltreatment: Examining change across multiple levels of analysis to identify transdiagnostic risk pathways.

PubMed

Shenk, Chad E; Griffin, Amanda M; O'Donnell, Kieran J

2015-11-01

Major depressive disorder (MDD) is a prevalent psychiatric condition in the child maltreatment population. However, not all children who have been maltreated will develop MDD or MDD symptoms, suggesting the presence of unique risk pathways that explain how certain children develop MDD symptoms when others do not. The current study tested several candidate risk pathways to MDD symptoms following child maltreatment: neuroendocrine, autonomic, affective, and emotion regulation. Female adolescents (N = 110; age range = 14-19) were recruited into a substantiated child maltreatment or comparison condition and completed a laboratory stressor, saliva samples, and measures of emotion regulation, negative affect, and MDD symptoms. MDD symptoms were reassessed 18 months later. Mediational modeling revealed that emotion regulation was the only significant indirect effect of the relationship between child maltreatment and subsequent MDD symptoms, demonstrating that children exposed to maltreatment had greater difficulties managing affective states that in turn led to more severe MDD symptoms. These results highlight the importance of emotion dysregulation as a central risk pathway to MDD following child maltreatment. Areas of future research and implications for optimizing prevention and clinical intervention through the direct targeting of transdiagnostic risk pathways are discussed.

Panic disorder and bipolar disorder: anxiety sensitivity as a potential mediator of panic during manic states.

PubMed

Simon, Naomi M; Otto, Michael W; Fischmann, Diana; Racette, Stephanie; Nierenberg, Andrew A; Pollack, Mark H; Smoller, Jordan W

2005-07-01

Panic disorder (PD) occurs at high rates in bipolar disorder and more commonly than in unipolar depression. Reports of PD onset during hypomania and depressive mania (i.e., mixed states) raise questions about whether the affective disturbances of bipolar disorder play a specific role in the exacerbation or onset of PD. Anxiety sensitivity (AS), a risk factor for PD appears greater in bipolar disorder compared to unipolar depression, although the association of specific mood states with AS remains unknown. We examined the association of current mood state (i.e., mixed state, mania or hypomania, bipolar depression, unipolar depression, and euthymia) with Anxiety Sensitivity Index (ASI) scores in 202 individuals with bipolar disorder (n=110) or major depressive disorder (n=92). Current mood state was significantly associated with ASI score (Chi-square=21.2, df=4, p=0.0003). In multiple regression analyses, including covariates for comorbid anxiety disorders, current mania or hypomania was a significant predictor of ASI scores (p<0.04). Current mixed state tended toward a similar association (p<0.10). Conclusions are limited by the study's cross-sectional nature and relatively small sample size. These findings of elevated AS during manic states, independent of comorbid anxiety disorders, provide preliminary support for the hypothesis that manic states contribute to risk for the development or exacerbation of PD, and that AS may contribute to the high prevalence and severity of PD comorbid with bipolar disorder.

Diagnostic value of conventional visual evoked potentials applied to patients with multiple sclerosis.

PubMed

Balnytė, Renata; Ulozienė, Ingrida; Rastenytė, Daiva; Vaitkus, Antanas; Malcienė, Lina; Laučkaitė, Kristina

2011-01-01

The aim of this study was to determine the sensitivity and specificity of this classical technique employed at the Hospital of Lithuanian University of Health Sciences for the patients with multiple sclerosis and to assess its possible correlations with affected neurological systems. Pattern shift visual evoked potentials were recorded in 63 patients with multiple sclerosis, 17 (27%) of whom had a history of optic neuritis, and in 63 control patients with other neurological diseases. The latencies and amplitudes of P100 were measured. In total, 126 patients were referred to the inpatient department of neurology for differential diagnosis of demyelinating disorders between January and December of 2007. Abnormalities of visual evoked potentials were observed by 73% more frequently in patients with multiple sclerosis than in control patients (α=0.05, β<0.01). The combined monocular/interocular test showed a specificity of 90.5% and a sensitivity of 82.5%. The probability of an affection of the pyramidal system was 5 times greater (95% CI, 2.2-11.0; P<0.01) and the probability of the optic pathways involvement was 4.8 times greater (95% CI, 1.9-11.9; P<0.01) in patients with multiple sclerosis than in controls. Conventional visual evoked potentials must be reappraised in light of their diagnostic value in multiple sclerosis given their high diagnostic efficiency, relatively easy, short, and cheap implementation, and easy availability in everyday clinical practice.

Affective Disorders among Patients with Borderline Personality Disorder

PubMed Central

Sjåstad, Hege Nordem; Gråwe, Rolf W.; Egeland, Jens

2012-01-01

Background The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. Methods In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. Results More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. Conclusions The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar spectrum. This association may reflect an etiological relationship or diagnostic overlapping criteria. PMID:23236411

The temporal interplay of self-esteem instability and affective instability in borderline personality disorder patients' everyday lives.

PubMed

Santangelo, Philip S; Reinhard, Iris; Koudela-Hamila, Susanne; Bohus, Martin; Holtmann, Jana; Eid, Michael; Ebner-Priemer, Ulrich W

2017-11-01

Borderline personality disorder (BPD) is defined by a pervasive pattern of instability. Although there is ample empirical evidence that unstable self-esteem is associated with a myriad of BPD-like symptoms, self-esteem instability and its temporal dynamics have received little empirical attention in patients with BPD. Even worse, the temporal interplay of affective instability and self-esteem instability has been neglected completely, although it has been hypothesized recently that the lack of specificity of affective instability in association with BPD might be explained by the highly intertwined temporal relationship between affective and self-esteem instability. To investigate self-esteem instability, its temporal interplay with affective instability, and its association with psychopathology, 60 patients with BPD and 60 healthy controls (HCs) completed electronic diaries for 4 consecutive days during their everyday lives. Participants reported their current self-esteem, valence, and tense arousal levels 12 times a day in approximately one-hr intervals. We used multiple state-of-the-art statistical techniques and graphical approaches to reveal patterns of instability, clarify group differences, and examine the temporal interplay of self-esteem instability and affective instability. As hypothesized, instability in both self-esteem and affect was clearly elevated in the patients with BPD. In addition, self-esteem instability and affective instability were highly correlated. Both types of instability were related to general psychopathology. Because self-esteem instability could not fully explain affective instability and vice versa and neither affective instability nor self-esteem instability was able to explain psychopathology completely, our findings suggest that these types of instability represent unique facets of BPD. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits.

PubMed

Pinsonneault, Julia K; Frater, John T; Kompa, Benjamin; Mascarenhas, Roshan; Wang, Danxin; Sadee, Wolfgang

2017-01-01

Genetic variants of ESR1 have been implicated in multiple diseases, including behavioral disorders, but causative variants remain uncertain. We have searched for regulatory variants affecting ESR1 expression in human brain, measuring allelic ESR1 mRNA expression in human brain tissues with marker SNPs in exon4 representing ESR1-008 (or ESRα-36), and in the 3'UTR of ESR1-203, two main ESR1 isoforms in brain. In prefrontal cortex from subjects with bipolar disorder, schizophrenia, and controls (n = 35 each; Stanley Foundation brain bank), allelic ESR1 mRNA ratios deviated from unity up to tenfold at the exon4 marker SNP, with large allelic ratios observed primarily in bipolar and schizophrenic subjects. SNP scanning and targeted sequencing identified rs2144025, associated with large allelic mRNA ratios (p = 1.6E10-6). Moreover, rs2144025 was significantly associated with ESR1 mRNA levels in the Brain eQTL Almanac and in brain regions in the Genotype-Tissue Expression project. In four GWAS cohorts, rs2104425 was significantly associated with behavioral traits, including: hypomanic episodes in female bipolar disorder subjects (GAIN bipolar disorder study; p = 0.0004), comorbid psychological symptoms in both males and females with attention deficit hyperactivity disorder (GAIN ADHD, p = 0.00002), psychological diagnoses in female children (eMERGE study of childhood health, subject age ≥9, p = 0.0009), and traits in schizophrenia (e.g., grandiose delusions, GAIN schizophrenia, p = 0.0004). The first common ESR1 variant (MAF 12-33% across races) linked to regulatory functions, rs2144025 appears conditionally to affect ESR1 mRNA expression in the brain and modulate traits in behavioral disorders.

Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits

PubMed Central

Kompa, Benjamin; Mascarenhas, Roshan; Wang, Danxin; Sadee, Wolfgang

2017-01-01

Genetic variants of ESR1 have been implicated in multiple diseases, including behavioral disorders, but causative variants remain uncertain. We have searched for regulatory variants affecting ESR1 expression in human brain, measuring allelic ESR1 mRNA expression in human brain tissues with marker SNPs in exon4 representing ESR1-008 (or ESRα-36), and in the 3’UTR of ESR1-203, two main ESR1 isoforms in brain. In prefrontal cortex from subjects with bipolar disorder, schizophrenia, and controls (n = 35 each; Stanley Foundation brain bank), allelic ESR1 mRNA ratios deviated from unity up to tenfold at the exon4 marker SNP, with large allelic ratios observed primarily in bipolar and schizophrenic subjects. SNP scanning and targeted sequencing identified rs2144025, associated with large allelic mRNA ratios (p = 1.6E10-6). Moreover, rs2144025 was significantly associated with ESR1 mRNA levels in the Brain eQTL Almanac and in brain regions in the Genotype-Tissue Expression project. In four GWAS cohorts, rs2104425 was significantly associated with behavioral traits, including: hypomanic episodes in female bipolar disorder subjects (GAIN bipolar disorder study; p = 0.0004), comorbid psychological symptoms in both males and females with attention deficit hyperactivity disorder (GAIN ADHD, p = 0.00002), psychological diagnoses in female children (eMERGE study of childhood health, subject age ≥9, p = 0.0009), and traits in schizophrenia (e.g., grandiose delusions, GAIN schizophrenia, p = 0.0004). The first common ESR1 variant (MAF 12–33% across races) linked to regulatory functions, rs2144025 appears conditionally to affect ESR1 mRNA expression in the brain and modulate traits in behavioral disorders. PMID:28617822

Familial aggregation and heritability of the melancholic and atypical subtypes of depression.

PubMed

Lamers, Femke; Cui, Lihong; Hickie, Ian B; Roca, Catherine; Machado-Vieira, Rodrigo; Zarate, Carlos A; Merikangas, Kathleen R

2016-11-01

The heterogeneity of mood disorders has been a challenge to our understanding of their underlying biologic and genetic pathways. This report examines the specificity of the familial aggregation of atypical and melancholic subtypes of depression and their clinical correlates in a large community based family study of affective spectrum disorders. The sample includes 457 probands and their directly interviewed adult first degree relatives from the National Institute of Mental Health (NIMH) Family Study of Affective Spectrum Disorder. Depression subtypes were based on best estimate diagnoses using information from semi-structured diagnostic interviews by experienced clinical interviews and multiple family history reports. Atypical depression in probands was significantly associated with the atypical subtype of depression in relatives (OR 1.75 [95%CI 1.02-3.02], p=0.04), independent of proband and relative comorbid disorders. Melancholic depression in probands was not associated with melancholic depression in relatives (OR 1.25 [95%CI 0.62-2.55], p=.53). The familial heritability of the atypical subtype was 0.46 (95%CI 0.21-0.71), whereas that of the melancholic subtype was 0.33 (95%CI 0.21-0.45). Melancholic depression was associated with greater severity in terms of treatment, global functioning, suicide attempts, comorbid disorders, and an earlier age at onset of depression. The subsample of interviewed relatives necessary to assess specific subtypes of depression reduced the power to detect the specificity of mood disorder subtypes. The results indicate that the atypical subtype should be incorporated in future treatment, genetic and other etiologic studies of major depression. Findings further suggest that melancholic subtype may be an indicator of clinical severity of depression. Published by Elsevier B.V.

Individuals with Single Versus Multiple Suicide Attempts Over 10 Years of Prospective Follow-Up

PubMed Central

Boisseau, Christina L.; Yen, Shirley; Markowitz, John C.; Grilo, Carlos M.; Sanislow, Charles A.; Shea, M. Tracie; Zanarini, Mary C.; Skodol, Andrew E.; Gunderson, John G.; Morey, Leslie C.; McGlashan, Thomas H.

2012-01-01

Background The study attempted to identify characteristics that differentiate multiple suicide attempters from single attempters in individuals with personality disorders (PDs) and/or major depression. Method Participants were 431 participants enrolled in the Collaborative Longitudinal Study of Personality Disorders from July 1996 to June 2008. Suicide attempts were assessed with the Longitudinal Interval Follow-up Evaluation at 6 and 12 months, then yearly through 10 years. Logistic regression was used to compare single attempters to multiple attempters on Axis I and II psychiatric disorders and personality trait variables. Results Twenty-one percent of participants attempted suicide during the 10 years of observation, with 39 (9.0%) reporting a single suicide attempt and 54 (12.5%) reporting multiple suicide attempts. Although no significant differences in were found in baseline Axis I disorders, multiple attempters were significantly more likely to meet criteria for borderline personality disorder and to have higher impulsivity scores than single attempters. Conclusion These results underscore the importance of considering both personality disorders and traits in the assessment of suicidality. PMID:22995448

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

PubMed

Kosho, Tomoki

2016-02-01

Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial. © 2015 Japan Pediatric Society.

The effects of rurality on substance use disorder diagnosis: A multiple-groups latent class analysis.

PubMed

Brooks, Billy; McBee, Matthew; Pack, Robert; Alamian, Arsham

2017-05-01

Rates of accidental overdose mortality from substance use disorder (SUD) have risen dramatically in the United States since 1990. Between 1999 and 2004 alone rates increased 62% nationwide, with rural overdose mortality increasing at a rate 3 times that seen in urban populations. Cultural differences between rural and urban populations (e.g., educational attainment, unemployment rates, social characteristics, etc.) affect the nature of SUD, leading to disparate risk of overdose across these communities. Multiple-groups latent class analysis with covariates was applied to data from the 2011 and 2012 National Survey on Drug Use and Health (n=12.140) to examine potential differences in latent classifications of SUD between rural and urban adult (aged 18years and older) populations. Nine drug categories were used to identify latent classes of SUD defined by probability of diagnosis within these categories. Once the class structures were established for rural and urban samples, posterior membership probabilities were entered into a multinomial regression analysis of socio-demographic predictors' association with the likelihood of SUD latent class membership. Latent class structures differed across the sub-groups, with the rural sample fitting a 3-class structure (Bootstrap Likelihood Ratio Test P value=0.03) and the urban fitting a 6-class model (Bootstrap Likelihood Ratio Test P value<0.0001). Overall the rural class structure exhibited less diversity in class structure and lower prevalence of SUD in multiple drug categories (e.g. cocaine, hallucinogens, and stimulants). This result supports the hypothesis that different underlying elements exist in the two populations that affect SUD patterns, and thus can inform the development of surveillance instruments, clinical services, and prevention programming tailored to specific communities. Copyright © 2017 Elsevier Ltd. All rights reserved.

Cognitive burden of anticholinergic medications in psychotic disorders.

PubMed

Eum, Seenae; Hill, S Kristian; Rubin, Leah H; Carnahan, Ryan M; Reilly, James L; Ivleva, Elena I; Keedy, Sarah K; Tamminga, Carol A; Pearlson, Godfrey D; Clementz, Brett A; Gershon, Elliot S; Keshavan, Matcheri S; Keefe, Richard S E; Sweeney, John A; Bishop, Jeffrey R

2017-12-01

Patients with psychotic disorders are often treated with numerous medications, many of which have anticholinergic activity. We assessed cognition in relation to the cumulative anticholinergic burden of multiple drugs included in treatment regimens of participants from the Bipolar-Schizophrenia Network on Intermediate Phenotypes (B-SNIP) study. Clinically stable participants with schizophrenia (n=206), schizoaffective disorder (n=131), and psychotic bipolar disorder (n=146) were examined. Anticholinergic properties of all scheduled drugs were quantified using the Anticholinergic Drug Scale (ADS). ADS scores were summed across individual drugs to create a total ADS burden score for each participant and examined in relation to the Brief Assessment of Cognition in Schizophrenia (BACS). Anticholinergic burden aggregated across all medications was inversely related to cognitive performance starting at ADS scores of 4 in participants with schizophrenia. Those with ADS scores ≥4 had lower composite BACS scores compared to those with ADS<4 (p=0.004). Among BACS subtests, Verbal Memory was the most adversely affected by high anticholinergic burden. Despite similar anticholinergic burden scores across groups, a significant threshold effect of anticholinergic burden was not detected in schizoaffective or psychotic bipolar disorder. We identified an adverse effect threshold of anticholinergic burden on cognition in clinically stable participants with schizophrenia. This relationship was not identified in affective psychoses. Examination of other medications, doses, and clinical measures did not account for these findings. Patients with schizophrenia may have increased cognitive susceptibility to anticholinergic medications and the aggregate effects of one's medication regimen may be important to consider in clinical practice. Copyright © 2017 Elsevier B.V. All rights reserved.

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.

The effect of personality dimensions on functional outcomes in mood disorders.

PubMed

Leen, Jessica; Soczynska, Joanna K; Gallaugher, Laura Ashley; Woldeyohannes, Hanna O; Alsuwaidan, Mohammad T; Cha, Danielle S; Dale, Roman M; Muzina, David J; Kennedy, Sidney H; McIntyre, Roger S

2013-07-01

Functional impairment associated with mood disorders may be related to a characteristic "profile" of normative personality dimensions. Individuals (age ≥ 18 years) with MDD (n = 400) or BD (n = 317), as defined by the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR), were enrolled in the IMDCP. Personality was evaluated with the Neuroticism-Extraversion-Openness Five-Factor Inventory (NEO-FFI), and functionality with the Sheehan Disability Scale and Endicott Work Productivity Scale. Path analysis using linear multiple regressions was performed to identify direct and indirect effects of personality on functional impairment. Lower conscientiousness exerted a significant direct effect on global (p = 0.017) and family life dysfunction in individuals with MDD (p = 0.002), as well as lower work productivity in both MDD (p = 0.020) and BD (p = 0.018). Lower extraversion exerted a significant direct effect on social impairment in individuals with BD (p = 0.017). Higher neuroticism and agreeableness as well as lower extraversion exerted indirect effects on global and social dysfunction in individuals with MDD via their effects on depression severity. In BD, higher neuroticism and openness indirectly affected global dysfunction. Family dysfunction was indirectly affected by higher neuroticism and openness as well as lower extraversion in MDD and BD. The results suggest that discrete personality dimensions may exert direct and indirect effects on functional outcomes in individuals with mood disorders. Personalizing disease management approaches in mood disorders with emphasis on vocational rehabilitation may benefit from measurement and intervention targeting personality.

Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes.

PubMed

Cittaro, Davide; Lampis, Valentina; Luchetti, Alessandra; Coccurello, Roberto; Guffanti, Alessandro; Felsani, Armando; Moles, Anna; Stupka, Elia; D' Amato, Francesca R; Battaglia, Marco

2016-04-28

Hyperventilation following transient, CO2-induced acidosis is ubiquitous in mammals and heritable. In humans, respiratory and emotional hypersensitivity to CO2 marks separation anxiety and panic disorders, and is enhanced by early-life adversities. Mice exposed to the repeated cross-fostering paradigm (RCF) of interference with maternal environment show heightened separation anxiety and hyperventilation to 6% CO2-enriched air. Gene-environment interactions affect CO2 hypersensitivity in both humans and mice. We therefore hypothesised that epigenetic modifications and increased expression of genes involved in pH-detection could explain these relationships. Medullae oblongata of RCF- and normally-reared female outbred mice were assessed by ChIP-seq for H3Ac, H3K4me3, H3K27me3 histone modifications, and by SAGE for differential gene expression. Integration of multiple experiments by network analysis revealed an active component of 148 genes pointing to the mTOR signalling pathway and nociception. Among these genes, Asic1 showed heightened mRNA expression, coherent with RCF-mice's respiratory hypersensitivity to CO2 and altered nociception. Functional enrichment and mRNA transcript analyses yielded a consistent picture of enhancement for several genes affecting chemoception, neurodevelopment, and emotionality. Particularly, results with Asic1 support recent human findings with panic and CO2 responses, and provide new perspectives on how early adversities and genes interplay to affect key components of panic and related disorders.

Frontolimbic Neural Circuit Changes in Emotional Processing and Inhibitory Control Associated With Clinical Improvement Following Transference-Focused Psychotherapy in Borderline Personality Disorder

PubMed Central

Perez, David L.; Vago, David R.; Pan, Hong; Root, James; Tuescher, Oliver; Fuchs, Benjamin H.; Leung, Lorene; Epstein, Jane; Cain, Nicole M.; Clarkin, John F.; Lenzenweger, Mark F.; Kernberg, Otto F.; Levy, Kenneth N.; Silbersweig, David A.; Stern, Emily

2015-01-01

Aim Borderline personality disorder (BPD) is characterized by self-regulation deficits, including impulsivity and affective lability. Transference-Focused Psychotherapy (TFP) is an evidence-based treatment proven to reduce symptoms across multiple cognitive-emotional domains in BPD. This pilot study aims to investigate neural activation associated with, and predictive of, clinical improvement in emotional and behavioral regulation in BPD following TFP. Methods BPD subjects (N=10) were scanned pre- and post-TFP treatment using a within-subjects design. A disorder-specific emotional-linguistic go/no-go fMRI paradigm was used to probe the interaction between negative emotional processing and inhibitory control. Results Analyses demonstrated significant treatment-related effects with relative increased dorsal prefrontal (dorsal anterior cingulate, dorsolateral prefrontal, and frontopolar cortices) activation, and relative decreased ventrolateral prefrontal cortex and hippocampal activation following treatment. Clinical improvement in constraint correlated positively with relative increased left dorsal anterior cingulate cortex activation. Clinical improvement in affective lability correlated positively with left posterior-medial orbitofrontal cortex/ventral striatum activation, and negatively with right amygdala/parahippocampal activation. Post-treatment improvements in constraint were predicted by pre-treatment right dorsal anterior cingulate cortex hypoactivation, and pre-treatment left posterior-medial orbitofrontal cortex/ventral striatum hypoactivation predicted improvements in affective lability. Conclusions These preliminary findings demonstrate potential TFP-associated alterations in frontolimbic circuitry and begin to identify neural mechanisms associated with a psychodynamically-oriented psychotherapy. PMID:26289141

Comparative Study of Children with ADHD Only, Autism Spectrum Disorder + ADHD, and Chronic Multiple Tic Disorder + ADHD

ERIC Educational Resources Information Center

Gadow, Kenneth D.; DeVincent, Carla J.; Schneider, Jayne

2009-01-01

Objective: Identification of differences among children with ADHD only, autism spectrum disorder (ASD)+ADHD, and chronic multiple tic disorder (CMTD)+ADHD may lead to better understanding of clinical phenotypes. Method: Children were evaluated using the parent- and teacher-completed questionnaires. Results: All three groups were highly similar in…

Phentermine, sibutramine and affective disorders.

PubMed

An, Hoyoung; Sohn, Hyunjoo; Chung, Seockhoon

2013-04-01

A safe and effective way to control weight in patients with affective disorders is needed, and phentermine is a possible candidate. We performed a PubMed search of articles pertaining to phentermine, sibutramine, and affective disorders. We compared the studies of phentermine with those of sibutramine. The search yielded a small number of reports. Reports concerning phentermine and affective disorders reported that i) its potency in the central nervous system may be comparatively low, and ii) it may induce depression in some patients. We were unable to find more studies on the subject; thus, it is unclear presently whether phentermine use is safe in affective disorder patients. Reports regarding the association of sibutramine and affective disorders were slightly more abundant. A recent study that suggested that sibutramine may have deleterious effects in patients with a psychiatric history may provide a clue for future phentermine research. Three explanations are possible concerning the association between phentermine and affective disorders: i) phentermine, like sibutramine, may have a depression-inducing effect that affects a specific subgroup of patients, ii) phentermine may have a dose-dependent depression-inducing effect, or iii) phentermine may simply not be associated with depression. Large-scale studies with affective disorder patients focusing on these questions are needed to clarify this matter before investigation of its efficacy may be carried out and it can be used in patients with affective disorders.

Multiple endocrine diseases in cats: 15 cases (1997-2008).

PubMed

Blois, Shauna L; Dickie, Erica L; Kruth, Stephen A; Allen, Dana G

2010-08-01

The objective of this retrospective study was to characterize a population of cats from a tertiary care center diagnosed with multiple endocrine disorders, including the specific disorders and time intervals between diagnosis of each disorder. Medical records of 15 cats diagnosed with more than one endocrine disorder were reviewed. The majority of cats were domestic shorthairs, and the mean age at the time of diagnosis of the first disorder was 10.3 years. The most common combination of disorders was diabetes mellitus and hyperthyroidism. Two cats had concurrent diabetes mellitus and hyperadrenocorticism, one cat had concurrent central diabetes insipidus and diabetes mellitus. A mean of 25.7 months elapsed between diagnoses of the first and second endocrine disorder, but this was variable. This study suggests the occurrence of multiple endocrine disorders is uncommon in cats. Copyright 2010 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.

Dominant inheritance of cerebral gigantism.

PubMed

Zonana, J; Sotos, J F; Romshe, C A; Fisher, D A; Elders, M J; Rimoin, D L

1977-08-01

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.

Factors Associated with Persistent Posttraumatic Stress Disorder Among U.S. Military Service Members and Veterans (Open Access Publisher’s Version)

DTIC Science & Technology

2018-02-17

mental health functioning [8–11]. These changes may affect the person’s psychological, behavioral, and physical health [12–14], decreasing one’s quality...prescribed a medication to treat anxiety, panic, or depression. Functional physical health was assessed using the physical component summary score derived...the 85th percentile, respectively [35]. Multiple physical symptoms were assessed using the 15- items from the Patient Health Questionnaire (PHQ-15

ADHD and Challenging behaviour in People with Intellectual Disability: should we screen for ADHD?

PubMed

Perera, Bhathika; Courtenay, Ken

2017-09-01

People with Intellectual Disability (ID) have cognitive impairments that affect their level of functioning the causes of which are multiple and often unknown. Behavioural difficulties are common among people with ID. Attention Deficit Hyperactivity Disorder (ADHD) is recognised more among people with Intellectual Disability and could be a cause of problem behaviours. Screening and assessing for ADHD in people with ID is difficult because of the paucity of robust assessment tools and diagnostic criteria.

Microbiota-gut-brain axis and the central nervous system.

PubMed

Zhu, Xiqun; Han, Yong; Du, Jing; Liu, Renzhong; Jin, Ketao; Yi, Wei

2017-08-08

The gut and brain form the gut-brain axis through bidirectional nervous, endocrine, and immune communications. Changes in one of the organs will affect the other organs. Disorders in the composition and quantity of gut microorganisms can affect both the enteric nervous system and the central nervous system (CNS), thereby indicating the existence of a microbiota-gut-brain axis. Due to the intricate interactions between the gut and the brain, gut symbiotic microorganisms are closely associated with various CNS diseases, such as Parkinson's disease, Alzheimer's disease, schizophrenia, and multiple sclerosis. In this paper, we will review the latest advances of studies on the correlation between gut microorganisms and CNS functions & diseases.

The role of charged surface residues in the binding ability of small hubs in protein-protein interaction networks

PubMed Central

Patil, Ashwini; Nakamura, Haruki

2007-01-01

Hubs are highly connected proteins in a protein-protein interaction network. Previous work has implicated disordered domains and high surface charge as the properties significant in the ability of hubs to bind multiple proteins. While conformational flexibility of disordered domains plays an important role in the binding ability of large hubs, high surface charge is the dominant property in small hubs. In this study, we further investigate the role of the high surface charge in the binding ability of small hubs in the absence of disordered domains. Using multipole expansion, we find that the charges are highly distributed over the hub surfaces. Residue enrichment studies show that the charged residues in hubs are more prevalent on the exposed surface, with the exception of Arg, which is predominantly found at the interface, as compared to non-hubs. This suggests that the charged residues act primarily from the exposed surface rather than the interface to affect the binding ability of small hubs. They do this through (i) enhanced intra-molecular electrostatic interactions to lower the desolvation penalty, (ii) indirect long – range intermolecular interactions with charged residues on the partner proteins for better complementarity and electrostatic steering, and (iii) increased solubility for enhanced diffusion-controlled rate of binding. Along with Arg, we also find a high prevalence of polar residues Tyr, Gln and His and the hydrophobic residue Met at the interfaces of hubs, all of which have the ability to form multiple types of interactions, indicating that the interfaces of hubs are optimized to participate in multiple interactions. PMID:27857564

Association between multiple geriatric syndromes and life satisfaction in community-dwelling older adults: A nationwide study in Taiwan.

PubMed

Yang, Deng-Chi; Lee, Jenq-Daw; Huang, Chi-Chang; Shih, Hsin-I; Chang, Chia-Ming

2015-01-01

Although previous studies have investigated the association between a single geriatric syndrome and life satisfaction in the older adults, the accumulated effects of multiple geriatric syndromes on life satisfaction remain unclear. We conducted a nationwide study by using data from the Taiwan Longitudinal Study on Aging database. A total of 2415 older adults were enrolled. Life satisfaction was evaluated according to the Life Satisfaction Index, and the geriatric syndromes included a depressive disorder, cognitive impairment, functional impairment, urine incontinence, pain, a fall, and polypharmacy. Other characteristics were age, sex, marital status, education level, self-rated health, and chronic diseases. Univariate analysis revealed that the older adults, who were illiterate, did not live with a partner, yet other issues such as stroke, malignancy, osteoarthritis, poor self-rated health, a depressive disorder, functional impairment, urine incontinence, or pain were associated with lower life satisfaction. In the multivariate regression model, the older adults who were male, illiterate, lived without a partner, had poor self-rated health, or had a depressive disorder were more likely to have lower life satisfaction. In addition, life satisfaction was unaffected in the older adults with only 1 geriatric syndrome, but among those with ≥2 geriatric syndromes, an increased number of geriatric syndromes were associated with lower life satisfaction. In addition to socio-demographic factors, cumulative effects of multiple geriatric syndromes might affect life satisfaction in the older adults. Further study of interventions for reducing geriatric syndromes to maintain life satisfaction is required. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

The role of charged surface residues in the binding ability of small hubs in protein-protein interaction networks.

PubMed

Patil, Ashwini; Nakamura, Haruki

2007-01-01

Hubs are highly connected proteins in a protein-protein interaction network. Previous work has implicated disordered domains and high surface charge as the properties significant in the ability of hubs to bind multiple proteins. While conformational flexibility of disordered domains plays an important role in the binding ability of large hubs, high surface charge is the dominant property in small hubs. In this study, we further investigate the role of the high surface charge in the binding ability of small hubs in the absence of disordered domains. Using multipole expansion, we find that the charges are highly distributed over the hub surfaces. Residue enrichment studies show that the charged residues in hubs are more prevalent on the exposed surface, with the exception of Arg, which is predominantly found at the interface, as compared to non-hubs. This suggests that the charged residues act primarily from the exposed surface rather than the interface to affect the binding ability of small hubs. They do this through (i) enhanced intra-molecular electrostatic interactions to lower the desolvation penalty, (ii) indirect long - range intermolecular interactions with charged residues on the partner proteins for better complementarity and electrostatic steering, and (iii) increased solubility for enhanced diffusion-controlled rate of binding. Along with Arg, we also find a high prevalence of polar residues Tyr, Gln and His and the hydrophobic residue Met at the interfaces of hubs, all of which have the ability to form multiple types of interactions, indicating that the interfaces of hubs are optimized to participate in multiple interactions.

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

PubMed

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

2014-01-01

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

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

PubMed Central

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

2014-01-01

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

Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants.

PubMed

Renault, Francis; Flores-Guevara, Roberto; Baudon, Jean-Jacques; Vazquez, Marie-Paule

2015-11-01

The aim of this study was to assess diagnoses and outcomes of infants with 2 or more cranial neuropathies identified using orofacial electromyography (EMG). This retrospective study involved 90 patients. Diagnoses took into account clinical, radiological, and genetic data. EMG examined the orbicularis oculi, genioglossus, and levator veli palatini muscles, and blink responses. To evaluate outcome, neurological disability, respiratory complications, and feeding difficulties were recorded. The patients had malformation syndromes (59), encephalopathies (29), or no underlying disorders (2). Neurogenic EMG signs were detected in a mean of 4 muscles, reflecting a mean of 3 affected nerves. EMG identified a higher number of neuropathies than clinical examination alone (82 vs. 31, facial; 56 vs. 2, pharyngeal; 25 vs. 3, hypoglossal). Poor outcome and death were more frequent when EMG identified ≥4 affected nerves (P = 0.02). EMG highlights multiple cranial neuropathies that can be clinically silent in infants with malformation syndromes or encephalopathies. © 2015 Wiley Periodicals, Inc.

Multiple victimizations before and after leaving home associated with PTSD, depression, and substance use disorder among homeless youth.

PubMed

Bender, Kimberly; Brown, Samantha M; Thompson, Sanna J; Ferguson, Kristin M; Langenderfer, Lisa

2015-05-01

Exposure to multiple forms of maltreatment during childhood is associated with serious mental health consequences among youth in the general population, but limited empirical attention has focused on homeless youth-a population with markedly high rates of childhood maltreatment followed by elevated rates of street victimization. This study investigated the rates of multiple childhood abuses (physical, sexual, and emotional abuse) and multiple street victimizations (robbery, physical assault, and sexual assault) and examined their relative relationships to mental health outcomes (meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, criteria for post-traumatic stress disorder [PTSD], depression, and substance use disorder) among a large (N = 601) multisite sample of homeless youth. Approximately 79% of youth retrospectively reported multiple childhood abuses (two or more types) and 28% reported multiple street victimizations (two or more types). Each additional type of street victimization nearly doubled youths' odds for meeting criteria for substance use disorder. Furthermore, each additional type of childhood abuse experienced more than doubled youths' odds for meeting criteria for PTSD. Both multiple abuses and multiple street victimizations were associated with an approximate twofold increase in meeting depression criteria. Findings suggest the need for screening, assessment, and trauma-informed services for homeless youth who consider multiple types of abuse and victimization experiences. © The Author(s) 2014.

How does difficulty communicating affect the social relationships of older adults? An exploration using data from a national survey.

PubMed

Palmer, Andrew D; Newsom, Jason T; Rook, Karen S

2016-01-01

Healthy social relationships are important for maintaining mental and physical health in later life. Less social support, smaller social networks, and more negative social interactions have been linked to depression, poorer immune functioning, lower self-rated health, increased incidence of disease, and higher mortality. Overwhelming evidence suggests that communication disorders adversely affect social relationships. Much less is known about whether some or all aspects of social relationships are negatively affected by a communication disorder. The relative impact of a communication disorder on social relationships, as compared to other kinds of disability, is also poorly understood. Data were analyzed from a representative national sample of community-dwelling adults aged 65 and older living in the continental United States (n=742). Results from multiple regressions indicated that difficulty communicating was significantly associated with several parameters of social relationships even after controlling for age, gender, partnership status, health, functional limitations, and visual impairment. Communication difficulty was a significant predictor of smaller social network size, fewer positive social exchanges, less frequent participation in social activities, and higher levels of loneliness, but was not a significant predictor of negative social exchanges. These findings suggest that communication disorders may place older adults at increased risk for mental and physical health problems because of social isolation, reduced social participation, and higher rates of loneliness. In addition, it appears that communication disorders may have a greater impact on positive, rather than negative, aspects of social relationships. As a result of this activity, the following learning outcomes will be realized: Readers will be able to (1) describe changes in the social relationships of older adults that occur as part of normal aging, (2) identify the aspects of social relationships that were significantly impacted by a communication difficulty, and (3) discuss possible reasons for these findings including potential clinical implications. Copyright © 2016 Elsevier Inc. All rights reserved.

Associations between positive and negative affect and 12-month physical disorders in a national sample.

PubMed

Weiser, Eric B

2012-06-01

Associations between positive and negative affect and a range of 12-month physical disorders were investigated in the Midlife Development in the United States Survey, a nationally representative sample of 3,032 adults ages 25-74. These associations were examined, controlling for relevant sociodemographic and psychiatric covariates. High positive affect was associated with decreased risk of physical disorders, whereas high negative affect was associated with increased risk. However, associations between positive affect and physical disorders were partially attenuated following adjustment for concurrent negative affect. Additionally, high affect balance was associated with decreased risk of physical disorders before and after adjustments. These findings underscore the relevance of affective disposition in health status, suggesting that both positive and negative affect may serve as viable health risk parameters.

Significant Linkage for Tourette Syndrome in a Large French Canadian Family

PubMed Central

Mérette, Chantal; Brassard, Andrée; Potvin, Anne; Bouvier, Hélène; Rousseau, François; Émond, Claudia; Bissonnette, Luc; Roy, Marc-André; Maziade, Michel; Ott, Jurg; Caron, Chantal

2000-01-01

Family and twin studies provide strong evidence that genetic factors are involved in the transmission of Gilles de la Tourette syndrome (TS) and related psychiatric disorders. To detect the underlying susceptibility gene(s) for TS, we performed linkage analysis in one large French Canadian family (127 members) from the Charlevoix region, in which 20 family members were definitely affected by TS and 20 others showed related tic disorders. Using model-based linkage analysis, we observed a LOD score of 3.24 on chromosome 11 (11q23). This result was obtained in a multipoint approach involving marker D11S1377, the marker for which significant linkage disequilibrium with TS recently has been detected in an Afrikaner population. Altogether, 25 markers were studied, and, for level of significance, we derived a criterion that took into account the multiple testing arising from the use of three phenotype definitions and three modes of inheritance, a procedure that yielded a LOD score of 3.18. Hence, even after adjustment for multiple testing, the present study shows statistically significant evidence for genetic linkage with TS. PMID:10986045

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

PubMed Central

Piotrowski, Arkadiusz; Xie, Jing; Liu, Ying F; Poplawski, Andrzej B; Gomes, Alicia R; Madanecki, Piotr; Fu, Chuanhua; Crowley, Michael R; Crossman, David K; Armstrong, Linlea; Babovic-Vuksanovic, Dusica; Bergner, Amanda; Blakeley, Jaishri O; Blumenthal, Andrea L; Daniels, Molly S; Feit, Howard; Gardner, Kathy; Hurst, Stephanie; Kobelka, Christine; Lee, Chung; Nagy, Rebecca; Rauen, Katherine A; Slopis, John M; Suwannarat, Pim; Westman, Judith A; Zanko, Andrea; Korf, Bruce R; Messiaen, Ludwine M

2015-01-01

Constitutional SMARCB1 mutations at 22q11.23 have been found in ~50% of familial and <10% of sporadic schwannomatosis cases1. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples. LZTR1 germline mutations were identified in seven of the eight cases. LZTR1 sequencing in 12 further cases with the same molecular signature identified 9 additional germline mutations. Loss of heterozygosity with retention of an LZTR1 mutation was present in all 25 schwannomas studied. Mutations segregated with disease in all available affected first-degree relatives, although four asymptomatic parents also carried an LZTR1 mutation. Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ~80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. PMID:24362817

A Transactional Systems Model of Autism Services

PubMed Central

Cuvo, Anthony J; Vallelunga, Lori R

2007-01-01

There has been an escalation in the number of children identified with autism spectrum disorders in recent years. To increase the likelihood that treatments for these children are effective, interventions should be derived from sound theory and research evidence. Absent this supportive foundation, intervention programs could be inconsequential if not harmful. Although atypical, the development of children with autism should be considered initially from the perspective of the same variables that affect the development of typical children. In addition, the developmental deviations that characterize autism must be considered when developing intervention programs. Behavioral systems models describe both typical and atypical development and emphasize dynamic multidirectional person–environment transactions. The environment is viewed as having multiple levels, from the individuals with autism themselves, to larger societal and cultural levels. Behavioral systems models of human development can be generalized to a transactional systems model of services for children with autism. This model is the foundational theoretical position of the Southern Illinois University Center for Autism Spectrum Disorders. The center's programs are described to illustrate the application of the model to multiple levels of the social ecology. PMID:22478495

Child Abuse and Multiple Personality Disorders: Review of the Literature and Suggestions for Treatment.

ERIC Educational Resources Information Center

Coons, Philip M.

1986-01-01

Multiple personality disorder is associated with a high incidence of physical and sexual abuse during childhood. While difficult to diagnose, multiple personality is easier to treat if diagnosed early in childhood or adolescence. Treatment for multiple personality focuses on establishing trust and communicating with and integrating the…

Cancer risk among patients with multiple sclerosis: A cohort study in Isfahan, Iran.

PubMed

Etemadifar, Masoud; Jahanbani-Ardakani, Hamidreza; Ghaffari, Sara; Fereidan-Esfahani, Maboobeh; Changaei, Hossein; Aghadoost, Nazila; Jahanbani Ardakani, Ameneh; Moradkhani, Negin

2017-01-01

Multiple sclerosis (MS), a central nervous system (CNS) autoimmune disorder, affects 2.3 million people around the world. Cancer kills around 7.5 million people annually. Both diseases have similar risks and intertwining molecular causes. Most studies focusing on MS and cancer have found an insignificant difference or reduction in the amount of cancer found in the MS community. We performed a cohort study using data from Isfahan Multiple Sclerosis Society (IMSS) and Isfahan cancer society and followed-up for 8 years on average (2006-2014). All of the 1718 MS patients were diagnosed according to McDonald's criteria, then standardized incidence ratio and the numbers of expected cancer case were calculated. While patients had an insignificant change in cancer prevalence, men had fewer cancer cases and women showed an increased prevalence of cancer. Certain types of cancer proved statistically significant. Breast cancer, nervous system cancers, and lymphoma were elevated in the cohort. Our results support the hypothesis that MS significantly affects certain cancers in a protective or associative manner. All cancer rates, except breast cancer, cancers located in the nervous system, and lymphomas were reduced in cohort, suggesting that unregulated immune function may provide protective effects to MS patients against cancer.

The study of autism as a distributed disorder

PubMed Central

Müller, Ralph-Axel

2010-01-01

Past autism research has often been dedicated to tracing the causes of the disorder to a localized neurological abnormality, a single functional network, or a single cognitive-behavioral domain. In this review, I argue that autism is a ‘distributed disorder’ on various levels of study (genetic, neuroanatomical, neurofunctional, behavioral). ‘Localizing’ models are therefore not promising. The large array of potential genetic risk factors suggests that multiple (or all) emerging functional brain networks are affected during early development. This is supported by widespread growth abnormalities throughout the brain. Interactions during development between affected functional networks and atypical experiential effects (associated with atypical behavior) in children with autism further complicate the neurological bases of the disorder, resulting in an ‘exponentially distributed’ profile. Promising approaches to a better characterization of neural endophenotypes in autism are provided by techniques investigating white matter and connectivity, such as MR spectroscopy, diffusion tensor imaging (DTI), and functional connectivity MRI. According to a recent hypothesis, the autistic brain is generally characterized by ‘underconnectivity’. However, not all findings are consistent with this view. The concepts and methodology of functional connectivity need to be refined and results need to be corroborated by anatomical studies (such as DTI tractography) before definitive conclusions can be drawn. PMID:17326118

Diagnostic Biomarkers for Posttraumatic Stress Disorder (PTSD): Promising Horizons from Translational Neuroscience Research

PubMed Central

Michopoulos, Vasiliki; Norrholm, Seth Davin; Jovanovic, Tanja

2015-01-01

Posttraumatic stress disorder (PTSD) is a heterogeneous disorder that affects individuals exposed to trauma (e.g., combat, interpersonal violence, and natural disasters). Although its diagnostic features have been recently re-classified with the emergence of the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), the disorder remains characterized by hyperarousal, intrusive reminders of the trauma, avoidance of trauma-related cues, and negative cognition and mood. This heterogeneity indicates the presence of multiple neurobiological mechanisms underlying the etiology and maintenance of PTSD. Translational research spanning the past few decades has revealed several potential avenues for the identification of diagnostic biomarkers for PTSD. These include, but are not limited to, monoaminergic transmitter systems, the hypothalamic-pituitary-adrenal (HPA) axis, metabolic hormonal pathways, inflammatory mechanisms, psychophysiological reactivity, and neural circuits. The current review provides an update to the literature with regard to the most promising putative PTSD biomarkers with specific emphasis on the interaction between neurobiological influences on disease risk and symptom progression. Such biomarkers will most likely be identified by multi-dimensional models derived from comprehensive descriptions of molecular, neurobiological, behavioral, and clinical phenotypes. PMID:25727177

Multiple Sclerosis in Malaysia: Demographics, Clinical Features, and Neuroimaging Characteristics

PubMed Central

Viswanathan, S.; Rose, N.; Masita, A.; Dhaliwal, J. S.; Puvanarajah, S. D.; Rafia, M. H.; Muda, S.

2013-01-01

Background. Multiple sclerosis (MS) is an uncommon disease in multiracial Malaysia. Diagnosing patients with idiopathic inflammatory demyelinating diseases has been greatly aided by the evolution in diagnostic criterion, the identification of new biomarkers, and improved accessibility to neuroimaging in the country. Objectives. To investigate the spectrum of multiple sclerosis in Malaysia. Methods. Retrospective analysis with longitudinal follow-up of patients referred to a single tertiary medical center with neurology services in Malaysia. Results. Out of 245 patients with idiopathic inflammatory demyelinating disease, 104 patients had multiple sclerosis. Female to male ratio was 5 : 1. Mean age at onset was 28.6 ± 9.9 years. The Malays were the predominant racial group affected followed by the Chinese, Indians, and other indigenous groups. Subgroup analysis revealed more Chinese having neuromyelitis optica and its spectrum disorders rather than multiple sclerosis. Positive family history was reported in 5%. Optic neuritis and myelitis were the commonest presentations at onset of disease, and relapsing remitting course was the commonest disease pattern observed. Oligoclonal band positivity was 57.6%. At disease onset, 61.5% and 66.4% fulfilled the 2005 and 2010 McDonald's criteria for dissemination in space. Mean cord lesion length was 1.86 ± 1.65 vertebral segments in the relapsing remitting group as opposed to 6.25 ± 5.18 vertebral segments in patients with neuromyelitis optica and its spectrum disorders. Conclusion. The spectrum of multiple sclerosis in Malaysia has changed over the years. Further advancement in diagnostic criteria will no doubt continue to contribute to the evolution of this disease here. PMID:24455266

The prevalence of mental disorders among upper primary school children in Kenya.

PubMed

Ndetei, David Musyimi; Mutiso, Victoria; Musyimi, Christine; Mokaya, Aggrey G; Anderson, Kelly K; McKenzie, Kwame; Musau, Abednego

2016-01-01

The aim of this study was to estimate the prevalence and correlates of mental disorders among upper primary school children in grades five through seven in Kenya. The Youth Self Report (YSR) instrument was adapted for use in Kenyan schools and administered to 2267 school children in grades five through seven from 23 randomly selected schools. We estimated the prevalence of DSM-IV mental disorders, and used logistic regression analyses to examine the socio-demographic factors associated with each disorder. The prevalence of any mental disorder among Kenyan school children was 37.7 % (95 % CI = 35.7-39.7 %). Somatic complaints were the most prevalent (29.6 %, 95 % CI = 27.8-31.5 %), followed by affective disorders (14.1 %, 95 % CI = 12.7-15.6 %) and conduct disorder (12.5 %, 95 % CI = 11.2-13.9). The presence of one or more comorbid mental disorder was seen among 18.2 % (95 % CI = 16.6-19.8 %) of children. Male sex, living in a peri-urban vs. rural area, being held back in school, having divorced or separated parents, and having an employed mother were associated with an increased likelihood of having most of the mental disorders examined, whereas increasing age was associated with a reduced likelihood. We observed a high prevalence of mental disorders among school children in Kenya. If not detected early, these disorders may interfere with children's psychological, social, and educational development. Our findings highlight the importance of implementing screening measures in schools that can detect single and multiple disorders in order to improve the mental health and well-being of the next generation.

38 CFR 4.130 - Schedule of ratings-mental disorders.

Code of Federal Regulations, 2012 CFR

2012-07-01

... disorder and/or agoraphobia 9413Anxiety disorder, not otherwise specified Dissociative Disorders 9416Dissociative amnesia; dissociative fugue; dissociative identity disorder (multiple personality disorder...

38 CFR 4.130 - Schedule of ratings-mental disorders.

Code of Federal Regulations, 2014 CFR

2014-07-01

... disorder and/or agoraphobia 9413Anxiety disorder, not otherwise specified Dissociative Disorders 9416Dissociative amnesia; dissociative fugue; dissociative identity disorder (multiple personality disorder...

38 CFR 4.130 - Schedule of ratings-mental disorders.

Code of Federal Regulations, 2013 CFR

2013-07-01

... disorder and/or agoraphobia 9413Anxiety disorder, not otherwise specified Dissociative Disorders 9416Dissociative amnesia; dissociative fugue; dissociative identity disorder (multiple personality disorder...

Gilles de la Tourette syndrome as a paradigmatic neuropsychiatric disorder.

PubMed

Cavanna, Andrea E

2018-05-21

Gilles de la Tourette syndrome is a chronic and complex tic disorder accompanied by specific behavioral problems in the majority of patients. With its multifaceted interplay between motion and emotion, this condition is a paradigmatic example of the science and art of clinical neuropsychiatry. This review article encompasses the clinical phenomenology of motor and vocal tics and associated sensory experiences (premonitory urges), as well as the behavioral spectrum of the most common comorbidities, including obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, affective symptoms, and impulsivity. Knowledge of the contributions of both tics and behavioral problems to patients' health-related quality of life across the lifespan should assist treating clinicians in formulating a targeted management plan. Although the exact pathophysiology of Gilles de la Tourette syndrome remains elusive, research into therapeutic interventions has expanded the range of available interventions across multiple domains. A thorough understanding of the neurology and psychiatry of this condition is of key importance to meet the needs of this patient population, from the formulation of an accurate diagnosis to the implementation of effective treatment strategies.

Effects of music and music therapy on mood in neurological patients

PubMed Central

Raglio, Alfredo; Attardo, Lapo; Gontero, Giulia; Rollino, Silvia; Groppo, Elisabetta; Granieri, Enrico

2015-01-01

Mood disorder and depressive syndromes represent a common comorbid condition in neurological disorders with a prevalence rate that ranges between 20% and 50% of patients with stroke, epilepsy, multiple sclerosis, and Parkinson’s disease. Notwithstanding, these conditions are often under-diagnosed and under-treated in the clinical practice and negatively affect the functional recovery, the adherence to treatment, the quality of life, and even the mortality risk. In addition, a bidirectional association between depression and neurological disorders may be possible being that depressive syndromes may be considered as a risk factor for certain neurological diseases. Despite the large amount of evidence regarding the effects of music therapy (MT) and other musical interventions on different aspects of neurological disorders, no updated article reviewing outcomes such as mood, emotions, depression, activity of daily living and so on is actually available; for this reason, little is known about the effectiveness of music and MT on these important outcomes in neurological patients. The aim of this article is to provide a narrative review of the current literature on musical interventions and their effects on mood and depression in patients with neurological disorders. Searching on PubMed and PsycInfo databases, 25 studies corresponding to the inclusion criteria have been selected; 11 of them assess the effects of music or MT in Dementia, 9 explore the efficacy on patients with Stroke, and 5 regard other neurological diseases like Multiple Sclerosis, Amyotrophic Lateral Sclerosis/motor neuron disease, Chronic quadriplegia, Parkinson’s Disease, and Acquired Brain dysfunctions. Selected studies are based on relational and rehabilitative music therapy approaches or concern music listening interventions. Most of the studies support the efficacy of MT and other musical interventions on mood, depressive syndromes, and quality of life on neurological patients. PMID:25815256

Using Cognitive Pretesting in Scale Development for Parkinson’s Disease: The Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) Example

PubMed Central

Tilley, Barbara C.; LaPelle, Nancy R.; Goetz, Christopher G.; Stebbins, Glenn T.

2016-01-01

Background Cognitive pretesting, a qualitative step in scale development, precedes field testing and assesses the difficulty of instrument completion for examiners and respondents. Cognitive pretesting assesses respondent interest, attention span, discomfort, and comprehension, and highlights problems with the logical structure of questions/response options that can affect understanding. In the past this approach was not consistently used in the development or revision of movement disorders scales. Methods We applied qualitative cognitive pretesting using testing guides in development of the Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The guides were based on qualitative techniques, verbal probing and “think-aloud” interviewing, to identify problems with the scale from the patient and rater perspectives. English-speaking Parkinson’s disease patients and movement disorders specialists (raters) from multiple specialty clinics in the United States, Western Europe and Canada used the MDS-UPDRS and completed the testing guides. Results Two rounds of cognitive pretesting were necessary before proceeding to field testing of the revised scale to assess clinimetric properties. Scale revisions based on cognitive pretesting included changes in phrasing, simplification of some questions, and addition of a reassuring statement explaining that not all PD patients experience the symptoms described in the questions. Conclusions The strategy of incorporating cognitive pretesting into scale development and revision provides a model for other movement disorders scales. Cognitive pretesting is being used in translating the MDS-UPDRS into multiple languages to improve comprehension and acceptance and in the development of a new Unified Dyskinesia Rating Scale for Parkinson’s disease patients. PMID:24613868

Effects of music and music therapy on mood in neurological patients.

PubMed

Raglio, Alfredo; Attardo, Lapo; Gontero, Giulia; Rollino, Silvia; Groppo, Elisabetta; Granieri, Enrico

2015-03-22

Mood disorder and depressive syndromes represent a common comorbid condition in neurological disorders with a prevalence rate that ranges between 20% and 50% of patients with stroke, epilepsy, multiple sclerosis, and Parkinson's disease. Notwithstanding, these conditions are often under-diagnosed and under-treated in the clinical practice and negatively affect the functional recovery, the adherence to treatment, the quality of life, and even the mortality risk. In addition, a bidirectional association between depression and neurological disorders may be possible being that depressive syndromes may be considered as a risk factor for certain neurological diseases. Despite the large amount of evidence regarding the effects of music therapy (MT) and other musical interventions on different aspects of neurological disorders, no updated article reviewing outcomes such as mood, emotions, depression, activity of daily living and so on is actually available; for this reason, little is known about the effectiveness of music and MT on these important outcomes in neurological patients. The aim of this article is to provide a narrative review of the current literature on musical interventions and their effects on mood and depression in patients with neurological disorders. Searching on PubMed and PsycInfo databases, 25 studies corresponding to the inclusion criteria have been selected; 11 of them assess the effects of music or MT in Dementia, 9 explore the efficacy on patients with Stroke, and 5 regard other neurological diseases like Multiple Sclerosis, Amyotrophic Lateral Sclerosis/motor neuron disease, Chronic quadriplegia, Parkinson's Disease, and Acquired Brain dysfunctions. Selected studies are based on relational and rehabilitative music therapy approaches or concern music listening interventions. Most of the studies support the efficacy of MT and other musical interventions on mood, depressive syndromes, and quality of life on neurological patients.

Affective disorders and sexual function: from neuroscience to clinic.

PubMed

Barata, Bernardo C

2017-11-01

Sexual dysfunction is a frequent issue in patients with affective disorders, affecting its quality of life and posing challenges to the approach of these patients. In recent years, human sexuality has attracted interest from the scientific community, and today we have a much deeper knowledge of the mechanisms involved in the sexual response. Paraphilias or sexual dysfunctions like low sexual desire, premature ejaculation, and erectile dysfunction, are frequent in affective disorders, and the frequency of each sexual problem varies according to the affective disorder. Comparing what is currently known about the sexual response with the main neurobiological findings of depressive, anxiety, obsessive-compulsive and posttraumatic stress disorders, it is possible to better understand specific sexual complaints of patients with these disorders. A better understanding of sexual function in affective disorders may help clinicians to choose treatments more suited to specific needs of these patients. Although the current state of science already allows us to have some understanding about sexual function in affective disorders, this critical area of research is still in its infancy, waiting for more investment.

Clinical vs. structured interview on anxiety and affective disorders by primary care physicians. understanding diagnostic discordance.

PubMed

Balestrieri, Matteo; Baldacci, Sandra; Bellomo, Antonello; Bellantuono, Cesario; Conti, Luciano; Perugi, Giulio; Nardini, Marcello; Borbotti, Marco; Viegi, Giovanni

2007-01-01

To assess in a national sample the ability of GPs to detect psychiatric disorders using a clinical vs. a standardized interview and to characterize the patients that were falsely diagnosed with an anxiety or affective disorder. This is a national, cross-sectional, epidemiological survey, carried out by GPs on a random sample of their patients. The GPs were randomly divided into two groups. Apart from the routine clinical interview, the experimental group (group A) had to administer the Mini-International Neuropsychiatric Interview (MINI). Data was collected by 143 GPs. 17.2% of all patients had a clinical diagnosis of an affective disorder, and 25.4% a clinical diagnosis of an anxiety disorder. In group A, the number of clinical diagnoses was about twice that of MINI diagnoses for affective disorders and one and a half times that for anxiety disorders. The majority of clinical diagnoses were represented by MINI subsyndromal cases (52.3%). Females showed a higher OR of being over-detected by GPs with anxiety disorders or of not being diagnosed with an affective disorder. Being divorced/separated/widowed increased the OR of over-detection of affective and anxiety disorders. The OR of over-detection of an affective or an anxiety disorder was higher for individuals with a moderate to poor quality of life. In the primary care a gap exists between clinical and standardized interviews in the detection of affective and anxiety disorders. Some experiential and social factors can increase this tendency. The use of a psycho.

Is Neural Processing of Negative Stimuli Altered in Addiction Independent of Drug Effects? Findings From Drug-Naïve Youth with Internet Gaming Disorder.

PubMed

Yip, Sarah W; Gross, James J; Chawla, Megha; Ma, Shan-Shan; Shi, Xing-Hui; Liu, Lu; Yao, Yuan-Wei; Zhu, Lei; Worhunsky, Patrick D; Zhang, Jintao

2018-05-01

Difficulties in emotion regulation are commonly reported among individuals with alcohol and drug addictions and contribute to the acquisition and maintenance of addictive behaviors. Alterations in neural processing of negative affective stimuli have further been demonstrated among individuals with addictions. However, it is unclear whether these alterations are a general feature of addictions or are a result of prolonged exposure to drugs of abuse. To test the hypothesis of altered negative affect processing independent of drug effects, this study assessed neural function among drug-naïve youth with a behavioral addiction-Internet gaming disorder (IGD). Fifty-six young adults (28 with IGD, 28 matched controls) participated in fMRI scanning during performance of a well-validated emotion regulation task. Between-group differences in neural activity during task performance were assessed using a whole-brain, mixed-effects ANOVA with correction for multiple comparisons at currently recommended thresholds (voxel-level p<0.001, pFWE<0.05). Compared to controls, youth with IGD exhibited significantly blunted neural responses within distributed subcortical and cortical regions including the striatum, insula, lateral prefrontal cortex and anterior cingulate in response to negative affective cues, as well as during emotion regulation. Independent component analysis (ICA) further identified between-group differences in engagement of a fronto-cingulo-parietal network, involving decreased engagement in IGD youth relative to controls. Study findings are largely consistent with those from prior neuroimaging studies in substance-use disorders, thus raising the possibility that neural processing of negative affect may be blunted across drug and behavioral addictions independent of acute or chronic drug effects.

[Children of mentally ill parents: the impact of parental psychiatric diagnosis, comorbidity, severity and chronicity on the well-being of children].

PubMed

Wiegand-Grefe, S; Geers, P; Petermann, F; Plass, A

2011-01-01

Children of mentally ill parents are known as a high-risk population for the development of psychological disturbances. In this study, the psychiatric diagnoses, the severity and chronicity and the comorbidity of a parental mental illness as well as the non-specific parameters were examined in terms of their influence on the children's mental health. n = 62 children of psychiatric inpatients were examined regarding their psychic symptomatology, assessed with the CBCL-Parent Report Form. The psychiatric ICD-10 diagnoses and comorbidities as well as the severity (CGI) of the mentally ill parents were collected from psychiatric assessment forms. Children of parents with personality disorders (PD) are evaluated as highly affected by their parents, regardless of whether the PD is the primary or the comorbid diagnosis. Children of parents suffering from addictive disorders are seen as the least affected by their parents. Overall, children of parents with multiple diagnoses tend to be rated as more affected. Severity of illness and chronicity do not have a considerable impact on the children's development of mental health problems. Strikingly, children with a high length of exposure to a parental illness are psychologically less affected than children with shorter times of exposure. Thus, children possibly acquire effective coping mechanisms with increasing time of exposure. The results reveal the necessity of preventive programmes, especially in case of personality disorders. In addition the necessity for external assessment of the children becomes clear, especially in those cases where the parents exhibit a poor acceptance of their disease. © Georg Thieme Verlag KG Stuttgart · New York.

Channelopathy pathogenesis in autism spectrum disorders.

PubMed

Schmunk, Galina; Gargus, J Jay

2013-11-05

Autism spectrum disorder (ASD) is a syndrome that affects normal brain development and is characterized by impaired social interaction as well as verbal and non-verbal communication and by repetitive, stereotypic behavior. ASD is a complex disorder arising from a combination of multiple genetic and environmental factors that are independent from racial, ethnic and socioeconomical status. The high heritability of ASD suggests a strong genetic basis for the disorder. Furthermore, a mounting body of evidence implies a role of various ion channel gene defects (channelopathies) in the pathogenesis of autism. Indeed, recent genome-wide association, and whole exome- and whole-genome resequencing studies linked polymorphisms and rare variants in calcium, sodium and potassium channels and their subunits with susceptibility to ASD, much as they do with bipolar disorder, schizophrenia and other neuropsychiatric disorders. Moreover, animal models with these genetic variations recapitulate endophenotypes considered to be correlates of autistic behavior seen in patients. An ion flux across the membrane regulates a variety of cell functions, from generation of action potentials to gene expression and cell morphology, thus it is not surprising that channelopathies have profound effects on brain functions. In the present work, we summarize existing evidence for the role of ion channel gene defects in the pathogenesis of autism with a focus on calcium signaling and its downstream effects.

Channelopathy pathogenesis in autism spectrum disorders

PubMed Central

Schmunk, Galina; Gargus, J. Jay

2013-01-01

Autism spectrum disorder (ASD) is a syndrome that affects normal brain development and is characterized by impaired social interaction as well as verbal and non-verbal communication and by repetitive, stereotypic behavior. ASD is a complex disorder arising from a combination of multiple genetic and environmental factors that are independent from racial, ethnic and socioeconomical status. The high heritability of ASD suggests a strong genetic basis for the disorder. Furthermore, a mounting body of evidence implies a role of various ion channel gene defects (channelopathies) in the pathogenesis of autism. Indeed, recent genome-wide association, and whole exome- and whole-genome resequencing studies linked polymorphisms and rare variants in calcium, sodium and potassium channels and their subunits with susceptibility to ASD, much as they do with bipolar disorder, schizophrenia and other neuropsychiatric disorders. Moreover, animal models with these genetic variations recapitulate endophenotypes considered to be correlates of autistic behavior seen in patients. An ion flux across the membrane regulates a variety of cell functions, from generation of action potentials to gene expression and cell morphology, thus it is not surprising that channelopathies have profound effects on brain functions. In the present work, we summarize existing evidence for the role of ion channel gene defects in the pathogenesis of autism with a focus on calcium signaling and its downstream effects. PMID:24204377

Group metacognitive therapy for repetitive negative thinking in primary and non-primary generalized anxiety disorder: an effectiveness trial.

PubMed

McEvoy, Peter M; Erceg-Hurn, David M; Anderson, Rebecca A; Campbell, Bruce N C; Swan, Amanda; Saulsman, Lisa M; Summers, Mark; Nathan, Paula R

2015-04-01

Generalized anxiety disorder (GAD) is a common and highly comorbid anxiety disorder characterized by repetitive negative thinking (RNT). Treatment trials tend to exclude individuals with non-primary GAD, despite this being a common presentation in real world clinics. RNT is also associated with multiple emotional disorders, suggesting that it should be targeted regardless of the primary disorder. This study evaluated the acceptability and effectiveness of brief group metacognitive therapy (MCT) for primary or non-primary GAD within a community clinic. Patients referred to a specialist community clinic attended six, two-hour weekly sessions plus a one-month follow-up (N=52). Measures of metacognitive beliefs, RNT, symptoms, positive and negative affect, and quality of life were completed at the first, last, and follow-up sessions. Attrition was low and large intent-to-treat effects were observed on most outcomes, particularly for negative metacognitive beliefs and RNT. Treatment gains increased further to follow-up. Benchmarking comparisons demonstrated that outcomes compared favorably to longer disorder-specific protocols for primary GAD. No control group or independent assessment of protocol adherence. Brief metacognitive therapy is an acceptable and powerful treatment for patients with primary or non-primary GAD. Copyright © 2014 Elsevier B.V. All rights reserved.

Pharmacotherapeutics for substance-use disorders: a focus on dopaminergic medications

PubMed Central

Verrico, Christopher D; Haile, Colin N; Newton, Thomas F; Kosten, Thomas R; De La Garza, Richard

2015-01-01

Introduction Illicit substance-use is a substantial public health concern, contributing over $150 billion in costs annually to Americans. A complex disease, a substance-use disorder affects neural circuits involved in reinforcement, motivation, learning and memory, and inhibitory control. Areas covered The modulatory influence of dopamine in mesocorticolimbic circuits contributes to encoding the primary reinforcing effects of substances and numerous studies suggest that aberrant signaling within these circuits contributes to the development of a substance-use disorder in some individuals. Decades of research focused on the clinical development of medications that directly target dopamine receptors has led to recent studies of agonist-like dopaminergic treatments for stimulant-use disorders and, more recently, cannabis-use disorder. Human studies evaluating the efficacy of dopaminergic agonist-like medications to reduce reinforcing effects and substance-use provide some insight into the design of future pharmacotherapy trials. A search of PubMed using specific brain regions, medications, and/or the terms ‘dopamine’, ‘cognition’, ‘reinforcement’, ‘cocaine’, ‘methamphetamine’, ‘amphetamine’, ‘cannabis’, ‘treatment/pharmacotherapy’, ‘addiction/abuse/dependence’ identified articles relevant to this review. Expert opinion Conceptualization of substance-use disorders and their treatment continues to evolve. Current efforts increasingly focus on a strategy fostering combination pharmacotherapies that target multiple neurotransmitter systems. PMID:24033127

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

PubMed

Fuchs, Sabine A; Harakalova, Magdalena; van Haaften, Gijs; van Hasselt, Peter M; Cuppen, Edwin; Houwen, Roderick H J

2012-07-01

The genetic defect in a number of rare disorders of metal metabolism remains elusive. The limited number of patients with these disorders impedes the identification of the causative gene through positional cloning, which requires numerous families with multiple affected individuals. However, with next-generation sequencing all coding DNA (exomes) or whole genomes of patients can be sequenced to identify genes that are consistently mutated in patients. With this strategy only a limited number of patients and/or pedigrees is needed, bringing the elucidation of the genetic cause of even very rare diseases within reach. The main challenge associated with whole exome sequencing is the identification of the disease-causing mutation(s) among abundant genetic candidate variants. We describe several strategies to manage this data wealth, including comparison with control databases, increasing the number of patients and controls, and reducing the genomic region under investigation through homozygosity mapping. In this review we introduce a number of rare disorders of copper metabolism, with a suspected but yet unknown monogenetic cause, as an attractive target for this strategy. We anticipate that use of these novel techniques will identify the basic defect in the disorders described in this review, as well as in other genetic disorders of metal metabolism, in the next few years.

Light Therapy Boxes for Seasonal Affective Disorder

MedlinePlus

Seasonal affective disorder treatment: Choosing a light therapy box Light therapy boxes can offer an effective treatment for seasonal affective disorder. Features such as light intensity, safety, cost and ...

[Cognitive and neuropsychiatric disorders in Parkinson's disease].

PubMed

Rodríguez-Constenla, I; Cabo-López, I; Bellas-Lamas, P; Cebrián, E

2010-02-08

In Parkinson's disease there are patients with isolated and multiple cognitive impairment, and their cognitive performance ranges from normal to an advanced degree of dementia. Most patients present an executive deficit, either in isolation or combined with other cognitive disorders, which is considered to be the most characteristic aspect of the disease, and 30-40% of those affected will end up with a clinically-defined dementia. The presence of a mild cognitive disorder in patients with Parkinson means that the risk of dementia appearing at some time during the development of the disease is high. The dementia associated with Parkinson's disease is specifically related with neuropsychiatric signs and symptoms, which may have three possible explanations: disorders affecting the mesolimbic pathways, diffuse limbic and cortical compromise, or associated Alzheimer-type phenomenology. Psychotic episodes tend to present more often in patients with dopaminergic treatment and the clinical spectrum of Parkinson-related psychosis covers visual illusions, visual-audio-olfactory hallucinations, delirium and severe paranoid hallucinatory psychosis. All the antiparkinsonian drugs can give rise to hallucinations and psychosis, but the dopamine agonists are the ones with the greatest capacity to do so. In managing these problems, it is crucial for prevention as well as diagnosis and treatment to be carried out as soon as they are detected. Doses of antiparkinsonian drugs must be reduced, although this is not usually enough, and so it will be necessary to associate atypical antipsychotics, which act mainly on 5-HT receptors and, in most cases, do not produce D2 blockage.

Maternal Immune Activation Leads to Selective Functional Deficits in Offspring Parvalbumin Interneurons

PubMed Central

Canetta, Sarah; Bolkan, Scott; Padilla-Coreano, Nancy; Song, LouJin; Sahn, Ryan; Harrison, Neil; Gordon, Joshua A.; Brown, Alan; Kellendonk, Christoph

2015-01-01

Summary Abnormalities in prefrontal GABAergic transmission, particularly in fast-spiking interneurons that express parvalbumin (PV), are hypothesized to contribute to the pathophysiology of multiple psychiatric disorders including schizophrenia, bipolar disorder, anxiety disorders and depression. While primarily histological abnormalities have been observed in patients and in animal models of psychiatric disease, evidence for abnormalities in functional neurotransmission at the level of specific interneuron populations has been lacking in animal models and is difficult to establish in human patients. Using an animal model of a psychiatric disease risk factor, prenatal maternal immune activation (MIA), we found reduced functional GABAergic transmission in the medial prefrontal cortex (mPFC) of adult MIA offspring. Decreased transmission was selective for interneurons expressing PV, and was not observed in calretinin-expressing neurons. This deficit in PV function in MIA offspring was associated with increased anxiety-like behavior and impairments in attentional set shifting, but did not affect working memory. Furthermore, cell-type specific optogenetic inhibition of mPFC PV interneurons was sufficient to impair attentional set shifting and enhance anxiety levels. Finally, we found that in vivo mPFC gamma oscillations, which are supported by PV interneuron function, were linearly correlated with the degree of anxiety displayed in adult mice, and that this correlation was disrupted in MIA offspring. These results demonstrate a selective functional vulnerability of PV interneurons to maternal immune activation, leading to affective and cognitive symptoms that have high relevance for schizophrenia and other psychiatric disorders. PMID:26830140

Maternal immune activation leads to selective functional deficits in offspring parvalbumin interneurons.

PubMed

Canetta, S; Bolkan, S; Padilla-Coreano, N; Song, L J; Sahn, R; Harrison, N L; Gordon, J A; Brown, A; Kellendonk, C

2016-07-01

Abnormalities in prefrontal gamma aminobutyric acid (GABA)ergic transmission, particularly in fast-spiking interneurons that express parvalbumin (PV), are hypothesized to contribute to the pathophysiology of multiple psychiatric disorders, including schizophrenia, bipolar disorder, anxiety disorders and depression. While primarily histological abnormalities have been observed in patients and in animal models of psychiatric disease, evidence for abnormalities in functional neurotransmission at the level of specific interneuron populations has been lacking in animal models and is difficult to establish in human patients. Using an animal model of a psychiatric disease risk factor, prenatal maternal immune activation (MIA), we found reduced functional GABAergic transmission in the medial prefrontal cortex (mPFC) of adult MIA offspring. Decreased transmission was selective for interneurons expressing PV, resulted from a decrease in release probability and was not observed in calretinin-expressing neurons. This deficit in PV function in MIA offspring was associated with increased anxiety-like behavior and impairments in attentional set shifting, but did not affect working memory. Furthermore, cell-type specific optogenetic inhibition of mPFC PV interneurons was sufficient to impair attentional set shifting and enhance anxiety levels. Finally, we found that in vivo mPFC gamma oscillations, which are supported by PV interneuron function, were linearly correlated with the degree of anxiety displayed in adult mice, and that this correlation was disrupted in MIA offspring. These results demonstrate a selective functional vulnerability of PV interneurons to MIA, leading to affective and cognitive symptoms that have high relevance for schizophrenia and other psychiatric disorders.

Impact of Dental Disorders and its Influence on Self Esteem Levels among Adolescents.

PubMed

Kaur, Puneet; Singh, Simarpreet; Mathur, Anmol; Makkar, Diljot Kaur; Aggarwal, Vikram Pal; Batra, Manu; Sharma, Anshika; Goyal, Nikita

2017-04-01

Self esteem is more of a psychological concept therefore, even the common dental disorders like dental trauma, tooth loss and untreated carious lesions may affect the self esteem thus influencing the quality of life. This study aims to assess the impact of dental disorders among the adolescents on their self esteem level. The present cross-sectional study was conducted among 10 to 17 years adolescents. In order to obtain a representative sample, multistage sampling technique was used and sample was selected based on Probability Proportional to Enrolment size (PPE). Oral health assessment was carried out using WHO type III examination and self esteem was estimated using the Rosenberg Self Esteem Scale score (RSES). The descriptive and inferential analysis of the data was done by using IBM SPSS software. Logistic and linear regression analysis was executed to test the individual association of different independent clinical variables with self esteem. Total sample of 1140 adolescents with mean age of 14.95 ±2.08 and RSES of 27.09 ±3.12 were considered. Stepwise multiple linear regression analysis was applied and best predictors in relation to RSES in the descending order were Dental Health Component (DHC), Aesthetic Component (AC), dental decay {(aesthetic zone), (masticatory zone)}, tooth loss {(aesthetic zone), (masticatory zone)} and anterior fracture of tooth. It was found that various dental disorders like malocclusion, anterior traumatic tooth, tooth loss and untreated decay causes a profound impact on aesthetics and psychosocial behaviour of adolescents, thus affecting their self esteem.

34 CFR 377.5 - What definitions apply?

Code of Federal Regulations, 2014 CFR

2014-07-01

..., multiple sclerosis, muscular dystrophy, musculo-skeletal disorders, neurological disorders (including... rehabilitation can be expected to require multiple vocational rehabilitation services over an extended period of...

34 CFR 377.5 - What definitions apply?

Code of Federal Regulations, 2013 CFR

2013-07-01

..., multiple sclerosis, muscular dystrophy, musculo-skeletal disorders, neurological disorders (including... rehabilitation can be expected to require multiple vocational rehabilitation services over an extended period of...

34 CFR 377.5 - What definitions apply?

Code of Federal Regulations, 2011 CFR

2011-07-01

..., multiple sclerosis, muscular dystrophy, musculo-skeletal disorders, neurological disorders (including... rehabilitation can be expected to require multiple vocational rehabilitation services over an extended period of...

34 CFR 377.5 - What definitions apply?

Code of Federal Regulations, 2012 CFR

2012-07-01

..., multiple sclerosis, muscular dystrophy, musculo-skeletal disorders, neurological disorders (including... rehabilitation can be expected to require multiple vocational rehabilitation services over an extended period of...

The Three-Year Course of Multiple Substance Use Disorders in the United States: A National Longitudinal Study

PubMed Central

McCabe, Sean Esteban; West, Brady T.

2016-01-01

Objectives This study examined the three-year course of multiple co-occurring substance use disorders (SUDs) based on longitudinal survey data from a large, nationally representative sample. Methods National estimates of the prevalence of DSM-IV SUDs were derived by analyzing data from structured, face-to-face diagnostic interviews as part of the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC), which collected data from a large nationally representative sample of non-institutionalized U.S. adults at two waves (2001–2002 and 2004–2005; n = 34,653). Results U.S. adults with multiple past-year SUDs at Wave 1 were more likely than those with an individual past-year SUD at Wave 1 to report at least one past-year SUD at Wave 2. There were several sociodemographic characteristics and psychiatric disorders (i.e., male, younger age, never married, sexual minority identity, nicotine dependence, and anxiety, mood and personality disorders) associated with increased odds of developing multiple SUDs and having three-year persistence of multiple SUDs. The majority of adults with multiple past-year SUDs had a lifetime personality disorder and did not utilize substance abuse treatment or other help-seeking. Conclusions Multiple SUDs are associated with a more persistent three-year course of disease over time relative to individual-SUDs. Despite a more severe three-year course and higher rates of comorbidity with other psychiatric disorders, the majority of U.S. adults with multiple SUDs do not utilize substance abuse treatment or other help-seeking. Clinical assessments and the substance abuse literature tend to focus on drug-specific individual SUDs rather than considering multiple SUDs, which are more complex in nature. PMID:28406266

The relationship of bulimia and anorexia nervosa with bipolar disorder and its temperamental foundations.

PubMed

Lunde, Anna V; Fasmer, Ole B; Akiskal, Kareen K; Akiskal, Hagop S; Oedegaard, Ketil J

2009-06-01

Earlier studies have suggested a relationship between bipolar disorder (BP) and eating disorders (ED), more specifically, bulimia nervosa (BN) and bipolar II disorder (BP-II). In the present report we extend this relationship to broader definitions of bipolarity. Semi-structured interview of 201 patients with DSM-IV criteria for major affective disorders combined with Akiskal and Mallya criteria for Affective temperaments. To diagnose lifetime comorbid eating disorders DSM-IV criteria for eating disorders (Bulimia Nervosa, BN, Anorexia, AN) were used. 33 patients had an eating disorder. When compared to patients without ED the patients with ED had a higher prevalence of bipolar disorders. Using strict DSM-IV criteria, this association was only significant for BN (OR) 4.5 (95% CI 1.1-17.6). When using a broader index of bipolarity including patients having affective temperaments, a significant relation was found for BN (OR) 9.1 (95% CI 1.1-73.6), and for patients with a lifetime history of both BN and AN (OR) 8.6 (95% CI 1.1-70.2).We also found patients with ED to have a significantly higher prevalence of affective temperaments, an earlier onset of major affective disorder and to have more depressive episodes. Non-blind evaluation of diagnosis for mood, eating disorders and affective temperaments. In line with previous reports we describe an association between bulimia nervosa and bipolar disorder. Furthermore we report a relationship between lifetime bulimia and anorexia and cyclothymic and related affective temperaments.

Oxytocin and Social Cognition in Affective and Psychotic Disorders

PubMed Central

Perez-Rodriguez, M. Mercedes; Mahon, Katie; Russo, Manuela; Ungar, Allison K.; Burdick, Katherine E.

2014-01-01

Impairments in social cognition are now recognized as core illness features in psychotic and affective disorders. Despite the significant disability caused by social cognitive abnormalities, treatments for this symptom dimension are lacking. Here, we describe the evidence demonstrating abnormalities in social cognition in schizophrenia, major depressive disorder, and bipolar disorder, as well as the neurobiology of social cognition including the role of oxytocin. We then review clinical trials of oxytocin administration in psychotic and affective disorders and the impact of this agent on social cognition. To date, several studies have demonstrated that oxytocin may improve social cognition in schizophrenia; too few studies have been conducted in affective disorders to determine the effect of oxytocin on social cognition in these disorders. Future work is needed to clarify which aspects of social cognition may be improved with oxytocin treatment in psychotic and affective disorders. PMID:25153535

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

Brief Report: Clusters and Trajectories Across the Autism and/or ADHD Spectrum.

PubMed

LaBianca, S; Pagsberg, A K; Jakobsen, K D; Demur, A B; Bartalan, M; LaBianca, J; Werge, T

2018-06-07

Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) frequently co-occur and show high genetic correlation. With the introduction of DSM-5, there is a new concept of an ASD and/or ADHD spectrum (ASD/ADHD). This study aimed to identify predictors of severity and need of healthcare within this spectrum. 39 families with multiple individuals affected by ASD/ADHD were recruited from a psychiatric clinic. Diagnoses, functional and demographic characteristics were retrieved from journals while hospital admissions were identified in the Danish health register. An estimated fraction of 31% ASD/ADHD patients had never been hospitalized and 35% remained undiagnosed despite hospitalization. Cluster analysis identified trajectories that discriminate age of diagnosis, educational attainment to degree of severity, need of hospitalization and genetic risk.

Inhomogeneity in the excited-state torsional disorder of a conjugated macrocycle.

PubMed

Yang, Jaesung; Ham, Sujin; Kim, Tae-Woo; Park, Kyu Hyung; Nakao, Kazumi; Shimizu, Hideyuki; Iyoda, Masahiko; Kim, Dongho

2015-03-12

The photophysics of conjugated polymers has generally been explained based on the interactions between the component conjugated chromophores in a tangled chain. However, conjugated chromophores are entities with static and dynamic structural disorder, which directly affects the conjugated polymer photophysics. Here we demonstrate the impact of chain structure torsional disorder on the spectral characteristics for a macrocyclic oligothiophene 1, which is obscured in conventional linear conjugated chromophores by diverse structural disorders such as those in chromophore size and shape. We used simultaneous multiple fluorescence parameter measurement for a single molecule and quantum-mechanical calculations to show that within the fixed conjugation length across the entire ring an inhomogeneity from torsional disorder in the structure of 1 plays a crucial role in causing its energetic disorder, which affords the spectral broadening of ∼220 meV. The torsional disorder in 1 fluctuated on the time scale of hundreds of milliseconds, typically accompanied by spectral drifts on the order of ∼10 meV. The fluctuations could generate torsional defects and change the electronic structure of 1 associated with the ring symmetry. These findings disclose the fundamental nature of conjugated chromophore that is the most elementary spectroscopic unit in conjugated polymers and suggest the importance of engineering structural disorder to optimize polymer-based device photophysics. Additionally, we combined defocused wide-field fluorescence microscopy and linear dichroism obtained from the simultaneous measurements to show that 1 emits polarized light with a changing polarization direction based on the torsional disorder fluctuations.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PubMed

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

2015-11-01

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

Rare Disorders and Diseases

ERIC Educational Resources Information Center

Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

2008-01-01

According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

Repetitive traumatic brain injury (or concussion) increases severity of sleep disturbance among deployed military personnel.

PubMed

Bryan, Craig J

2013-06-01

Considerable research indicates that sleep disturbances and insomnia are more common and severe among individuals following a traumatic brain injury (TBI). It remains unclear, however, how the experience of multiple TBIs affect sleep disturbances and insomnia. The current study investigated the incidence and severity of insomnia and sleep complaints among active-duty military personnel who have sustained multiple TBIs. Upon intake at a military TBI clinic located in Iraq, 150 male military patients completed standardized self-report measures and clinical interviews. Patients were categorized into three groups according to history of TBI: zero TBIs (n = 18), single TBI (n = 54), multiple TBIs (n = 78). Rates of clinical insomnia significantly increased across TBI groups (P < 0.001):- 5.6% for no TBIs, 20.4% for single TBI, and 50.0% for multiple TBIs. Insomnia severity significantly increased across TBI groups even when controlling for depression, posttraumatic stress disorder, and concussion symptom severity (B = 1.134, standard error = 0.577, P = 0.049). Multiple TBIs are associated with increased risk for and severity of sleep disturbance among male military personnel.

Co-morbidity of bipolar affective disorder and obsessive compulsive disorder in a Bedford community psychiatry team.

PubMed

Darby, Laura; Agius, Mark; Zaman, Rashid

2011-09-01

This is a study of the prevalence and impact of co-existing bipolar affective disorder on patients with OCD, and the effect on their management within a community psychiatric team. We found that 16% of patients who visited psychiatric outpatients with a diagnosis of OCD had co-existing bipolar affective disorder. Of these the majority had bipolar affective disorder II (67%). Co-morbidity raised a number of challenges to patient management. Compared to the control group the patients with co-morbid bipolar affective disorder required a greater number of outpatients appointments, had a greater number of hospital admissions, were more likely to have been allocated a care coordinator and to have received psychological input.

The impact of conscientiousness, mastery, and work circumstances on subsequent absenteeism in employees with and without affective disorders.

PubMed

Kok, Almar A L; Plaisier, Inger; Smit, Johannes H; Penninx, Brenda W J H

2017-03-29

High numbers of employees are coping with affective disorders. At the same time, ambitiousness, achievement striving and a strong sense of personal control and responsibility are personality characteristics that are nowadays regarded as key to good work functioning, whereas social work circumstances tend to be neglected. However, it is largely unkown how personality characteristics and work circumstances affect work functioning when facing an affective disorder. Given the high burden of affective disorders on occupational health, we investigate these issues in the context of affective disorders and absenteeism from work. The principal aim of this paper is to examine whether particular personality characteristics that reflect self-governance (conscientiousness and mastery) and work circumstances (demands, control, support) influence the impact of affective disorders on long-term absenteeism (>10 working days). Baseline and 1-year follow-up data from 1249 participants in the Netherlands Study of Depression and Anxiety (NESDA) in 2004-2006 was employed. Multivariate logistic regression analyses were performed, including interaction effects between depressive, anxiety, and comorbid disorders and personality and work circumstances. In general, mastery and conscientiousness increased nor diminished odds of subsequent long-term absenteeism, whereas higher job support significantly decreased these odds. Interaction effects showed that the impact of affective disorders on absenteeism was stronger for highly conscientious employees and for employees who experienced high job demands. Affective disorders may particularly severely affect work functioning of employees who are highly conscientious or face high psychological job demands. Adjusting working conditions to their individual needs may prevent excessive work absence.

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

PubMed

Ulfarsson, M O; Walters, G B; Gustafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, D F; Arnarsdottir, S; Jonsdottir, G A; Gisladottir, R S; Bjornsdottir, G; Helgason, H; Ellingsen, L M; Halldorsson, J G; Saemundsen, E; Stefansdottir, B; Jonsson, L; Eiriksdottir, V K; Eiriksdottir, G R; Johannesdottir, G H; Unnsteinsdottir, U; Jonsdottir, B; Magnusdottir, B B; Sulem, P; Thorsteinsdottir, U; Sigurdsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefansson, H; Stefansson, K

2017-04-25

Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

PubMed Central

Ulfarsson, M O; Walters, G B; Gustafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, D F; Arnarsdottir, S; Jonsdottir, G A; Gisladottir, R S; Bjornsdottir, G; Helgason, H; Ellingsen, L M; Halldorsson, J G; Saemundsen, E; Stefansdottir, B; Jonsson, L; Eiriksdottir, V K; Eiriksdottir, G R; Johannesdottir, G H; Unnsteinsdottir, U; Jonsdottir, B; Magnusdottir, B B; Sulem, P; Thorsteinsdottir, U; Sigurdsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefansson, H; Stefansson, K

2017-01-01

Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1–BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1–BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1–BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia. PMID:28440815

Therapeutic use of dextromethorphan: key learnings from treatment of pseudobulbar affect.

PubMed

Miller, Ariel; Panitch, Hillel

2007-08-15

A variety of neurological conditions and disease states are accompanied by pseudobulbar affect (PBA), an emotional disorder characterized by uncontrollable outbursts of laughing and crying. The causes of PBA are unclear but may involve lesions in neural circuits regulating the motor output of emotional expression. Several agents used in treating other psychiatric disorders have been applied in the treatment of PBA with some success but data are limited and these agents are associated with unpleasant side effects due to nonspecific activity in diffuse neural networks. Dextromethorphan (DM), a widely used cough suppressant, acts at receptors in the brainstem and cerebellum, brain regions implicated in the regulation of emotional output. The combination of DM and quinidine (Q), an enzyme inhibitor that blocks DM metabolism, has recently been tested in phase III clinical trials in patients with multiple sclerosis and amyotrophic lateral sclerosis and was both safe and effective in palliating PBA symptoms. In addition, clinical studies pertaining to the safety and efficacy of DM/Q in a variety of neurological disease states are ongoing.

FoxO Transcription Factors and Regenerative Pathways in Diabetes Mellitus

PubMed Central

Maiese, Kenneth

2015-01-01

Mammalian forkhead transcription factors of the O class (FoxO) are exciting targets under consideration for the development of new clinical entities to treat metabolic disorders and diabetes mellitus (DM). DM, a disorder that currently affects greater than 350 million individuals globally, can become a devastating disease that leads to cellular injury through oxidative stress pathways and affects multiple systems of the body. FoxO proteins can regulate insulin signaling, gluconeogenesis, insulin resistance, immune cell migration, and cell senescence. FoxO proteins also control cell fate through oxidative stress and pathways of autophagy and apoptosis that either lead to tissue regeneration or cell demise. Furthermore, FoxO signaling can be dependent upon signal transduction pathways that include silent mating type information regulation 2 homolog 1 (S. cerevisiae) (SIRT1), Wnt, and Wnt1 inducible signaling pathway protein 1 (WISP1). Cellular metabolic pathways driven by FoxO proteins are complex, can lead to variable clinical outcomes, and require in-depth analysis of the epigenetic and post-translation protein modifications that drive FoxO protein activation and degradation. PMID:26256004

Mitochondria, oligodendrocytes and inflammation in bipolar disorder: evidence from transcriptome studies points to intriguing parallels with multiple sclerosis

PubMed Central

Konradi, Christine; Sillivan, Stephanie E.; Clay, Hayley B.

2011-01-01

Gene expression studies of bipolar disorder (BPD) have shown changes in transcriptome profiles in multiple brain regions. Here we summarize the most consistent findings in the scientific literature, and compare them to data from schizophrenia (SZ) and major depressive disorder (MDD). The transcriptome profiles of all three disorders overlap, making the existence of a BPD-specific profile unlikely. Three groups of functionally related genes are consistently expressed at altered levels in BPD, SZ and MDD. Genes involved in energy metabolism and mitochondrial function are downregulated, genes involved in immune response and inflammation are upregulated, and genes expressed in oligodendrocytes are downregulated. Experimental paradigms for multiple sclerosis demonstrate a tight link between energy metabolism, inflammation and demyelination. These studies also show variabilities in the extent of oligodendrocyte stress, which can vary from a downregulation of oligodendrocyte genes, such as observed in psychiatric disorders, to cell death and brain lesions seen in multiple sclerosis. We conclude that experimental models of multiple sclerosis could be of interest for the research of BPD, SZ and MDD. PMID:21310238

Functional brain imaging of cognitive dysfunction in Parkinson's disease.

PubMed

Hirano, Shigeki; Shinotoh, Hitoshi; Eidelberg, David

2012-10-01

Multiple factors are involved in the development of cognitive impairment in Parkinson's disease (PD) and related disorders. Notably, several underlying factors, such as monoaminergic dysfunction, Lewy body pathology, Alzheimer disease-like pathology and cerebrovascular disease are implied in the PD pathophysiology of cognitive impairment. The mesocortical dopaminergic system is associated with executive functions which are frequently affected in PD and are influenced by local levodopa concentration, dopamine metabolism and baseline performance status. The ventral striatum and frontal cortex are associated with impulse control disorders reported in PD patients treated with dopamine replacement therapy. Cholinergic impairment in PD plays a cardinal role in the development of dementia. Acetylcholinesterase positron emission tomography demonstrates that posterior brain areas are related to cognitive decline in PD patients. Amyloid radiotracer illustrates that patients with PD with severe cognitive impairment were prone to accompanied cortical amyloid deposition. Metabolism/perfusion change associated with cognitive impairment in PD, so-called PD related cognitive pattern, is characterised by reduced frontoparietal activity and is an effective way to differentiate and monitor cognitive function of individual PD patients. Cognitive impairment in PD cannot be explained by a single mechanism and is entangled by multiple factors. Imaging studies can unravel each pathological domain, further shed light on the interrelation between different pathomechanisms, not only in PD but also in other dementia related disorders, and thereby integrate its interpretation to apply to therapeutics in individual patients.

Attention-Deficit/Hyperactivity Disorder and Risk of Substance Use Disorder: Developmental Considerations, Potential Pathways, and Opportunities for Research

PubMed Central

Molina, Brooke S.G.; Pelham, William E.

2014-01-01

Many opportunities to explain ADHD-related risk of substance use/disorder (SUD) remain available for study. We detail these opportunities by considering characteristics of children with ADHD and factors affecting their outcomes side-by-side with overlapping variables in the developmental literature on SUD etiology. Although serious conduct problems are a known contributor to ADHD-related risk of SUD, few studies have considered their emergence developmentally and in relation to other candidate mediators and moderators that could also explain risk and be intervention targets. Common ADHD-related impairments, such as school difficulties, are in need of research. Heterogeneous social impairments have the potential for predisposing, and buffering, influences. Research on neurocognitive domains should move beyond standard executive function batteries to measure deficits in the interface between cognitive control, reward, and motivation. Ultimately, maximizing prediction will depend, as it has in the SUD literature, on simultaneous consideration of multiple risk factors. PMID:24437435

Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.

PubMed

Sheikine, Yuri; Woda, Craig B; Lee, Pui Y; Chatila, Talal A; Keles, Sevgi; Charbonnier, Louis-Marie; Schmidt, Birgitta; Rosen, Seymour; Rodig, Nancy M

2015-07-01

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder is an autoimmune disease caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. These mutations affect the normal function of circulating regulatory T cells. IPEX is characterized by profound immune dysregulation leading to dermatitis, enteropathy, multiple endocrinopathies and failure to thrive. Different forms of renal injury have also been noted in these patients but these have been described to a very limited extent. Three patients with IPEX with characteristic renal findings and mutations in FOXP3, including one novel mutation, are described. Case presentations are followed by a review of the renal manifestations noted in IPEX and the range of therapeutic options for this disorder. We recommend that IPEX be considered in the differential diagnosis of young children who present with signs of immune dysregulation with a concomitant renal biopsy demonstrating immune complex deposition in a membranous-like pattern and/or interstitial nephritis.

Droplet Digital PCR for Minimal Residual Disease Detection in Mature Lymphoproliferative Disorders.

PubMed

Drandi, Daniela; Ferrero, Simone; Ladetto, Marco

2018-01-01

Minimal residual disease (MRD) detection has a powerful prognostic relevance for response evaluation and prediction of relapse in hematological malignancies. Real-time quantitative PCR (qPCR) has become the settled and standardized method for MRD assessment in lymphoid disorders. However, qPCR is a relative quantification approach, since it requires a reference standard curve. Droplet digital TM PCR (ddPCR TM ) allows a reliable absolute tumor burden quantification withdrawing the need for preparing, for each experiment, a tumor-specific standard curve. We have recently shown that ddPCR has a good concordance with qPCR and could be a feasible and reliable tool for MRD monitoring in mature lymphoproliferative disorders. In this chapter we describe the experimental workflow, from the detection of the clonal molecular marker to the MRD monitoring by ddPCR, in patients affected by multiple myeloma, mantle cell lymphoma and follicular lymphoma. However, standardization programs among different laboratories are needed in order to ensure the reliability and reproducibility of ddPCR-based MRD results.

Decreased triple network connectivity in patients with post-traumatic stress disorder

NASA Astrophysics Data System (ADS)

Liu, Yang; Li, Liang; Li, Baojuan; Zhang, Xi; Lu, Hongbing

2017-03-01

The triple network model provides a common framework for understanding affective and neurocognitive dysfunctions across multiple disorders, including central executive network (CEN), default mode network (DMN), and salience network (SN). Considering the effect of traumatic experience on post-traumatic stress disorder (PTSD), this study aims to explore the alteration of triple network connectivity in a specific PTSD induced by a single prolonged trauma exposure. With arterial spin labeling sequence, three networks were identified using independent component analysis in 10 PTSD patients and 10 healthy survivors, who experienced the same coal mining flood disaster. In PTSD patients, decreased connectivity was identified in left middle frontal gyrus of CEN, left precuneus and bilateral superior frontal gyrus of DMN, and right anterior insula of SN. The decreased connectivity in left middle frontal gyrus was identified to associate with clinical severity. These results indicated the decreased triple network connectivity, which not only supported the proposal of the triple network model, but also prompted possible neurobiology mechanism of cognitive dysfunction for this kind of PTSD.

Allostatic load in parents of children with developmental disorders: moderating influence of positive affect.

PubMed

Song, Jieun; Mailick, Marsha R; Ryff, Carol D; Coe, Christopher L; Greenberg, Jan S; Hong, Jinkuk

2014-02-01

This study examines whether parents of children with developmental disorders are at risk of elevated allostatic load relative to control parents and whether positive affect moderates difference in risk. In all, 38 parents of children with developmental disorders and 38 matched comparison parents were analyzed. Regression analyses revealed a significant interaction between parent status and positive affect: parents of children with developmental disorders had lower allostatic load when they had higher positive affect, whereas no such association was evident for comparison parents. The findings suggest that promoting greater positive affect may lower health risks among parents of children with developmental disorders.

The Neuropsychological Profile of Comorbid Post-Traumatic Stress Disorder in Adult ADHD.

PubMed

Antshel, Kevin M; Biederman, Joseph; Spencer, Thomas J; Faraone, Stephen V

2016-12-01

ADHD and post-traumatic stress disorder (PTSD) are often comorbid yet despite the increased comorbidity between the two disorders, to our knowledge, no data have been published regarding the neuropsychological profile of adults with comorbid ADHD and PTSD. Likewise, previous empirical studies of the neuropsychology of PTSD did not control for ADHD status. We sought to fill this gap in the literature and to assess the extent to which neuropsychological test performance predicted psychosocial functioning, and perceived quality of life. Participants were 201 adults with ADHD attending an outpatient mental health clinic between 1998 and 2003 and 123 controls without ADHD. Participants completed a large battery of self-report measures and psychological tests. Diagnoses were made using data obtained from structured psychiatric interviews (i.e., Structured Clinical Interview for DSM-IV, Schedule for Affective Disorders and Schizophrenia for School-Age Children Epidemiologic Version). Differences emerged between control participants and participants with ADHD on multiple neuropsychological tests. Across all tests, control participants outperformed participants with ADHD. Differences between the two ADHD groups emerged on seven psychological subtests including multiple Wechsler Adult Intelligence Scale-Third edition and Rey-Osterrieth Complex Figure Test measures. These test differences did not account for self-reported quality of life differences between groups. The comorbidity with PTSD in adults with ADHD is associated with weaker cognitive performance on several tasks that appear related to spatial/perceptual abilities and fluency. Neuropsychological test performances may share variance with the quality of life variables yet are not mediators of the quality of life ratings. © The Author(s) 2014.

Dual diagnosis vs. triple diagnosis in HIV: a comparative study to evaluate the differences in psychopathology and suicidal risk in HIV positive male subjects.

PubMed

Gupta, M; Kumar, K; Garg, P D

2013-12-01

The problem of triple diagnosis of HIV, substance abuse and psychiatric disorders is a complex one with difficult solutions. HIV disease progression is affected by substance use as well as psychiatric illness burden due to both direct as well as indirect factors. Continuing substance abuse with poor drug adherence coexists with psychiatric disorders leading to increased morbidity and mortality. A total of 100 HIV positive subjects comprising of two groups each having 50 subjects with and without substance abuse were assessed using detailed history, mental state examination, WHO schedule for clinical assessment in neuropsychiatry (SCAN 2.0) and Beck's Scale for Suicidal Ideation (BSS). Statistical analysis used Chi-Square test, Fischer's exact test, Student's t-test, Pearson's correlation coefficient, univariate and multiple regression analysis, univariate and multiple logistic regression analysis. p-Value<0.05 was considered to denote statistical significance. Subjects with substance use disorder had higher rates of psychiatric morbidity (52% vs. 24%, 95% CI=0.5200, p<0.05). The rate of antiretroviral therapy default was almost double in subjects with substance abuse, as compared to subjects without substance use. Suicidal risk was significantly increased (p<0.05) in subjects with co-morbid medical disorders but substance abuse did not increase the risk. Substance abuse inflicts a much greater burden on HIV positive individuals as compared to subjects without substance use. Concomitant substance abuse resulted in significantly increased duration of illness and psychiatric morbidity. Copyright © 2013 Elsevier B.V. All rights reserved.

Analysis of mental disorders in tinnitus patients performed with Composite International Diagnostic Interview.

PubMed

Zirke, N; Seydel, C; Arsoy, D; Klapp, B F; Haupt, H; Szczepek, A J; Olze, H; Goebel, G; Mazurek, B

2013-10-01

Known association between tinnitus and psychological distress prompted us to examine patients with chronic tinnitus by using the Composite International Diagnostic Interview (CIDI), which is a standardized and reliable method used for the diagnosis of mental disorders. One hundred patients with chronic tinnitus admitted to the Tinnitus Center, Charité-Universitätsmedizin Berlin, were included in this study. Data were collected between February 2008 and February 2009. Besides CIDI, the Tinnitus Questionnaire according to Goebel and Hiller, the Hospital Anxiety Depression Scale, and the General Anxiety Disorder-7 were used. Using CIDI, we have identified one or more mental disorders in 46 tinnitus patients. In that group, we found persistent affective disorders (37 %), anxiety disorders (32 %), and somatoform disorders (27 %). Those patients who had affective or anxiety disorders were more distressed by tinnitus and were more anxious and more depressed than tinnitus patients without mental disorders. Psychological impairment positively correlated with tinnitus distress: Patients with decompensated tinnitus had significantly more affective and anxiety disorders than patients with compensated tinnitus. In the present study, we have detected a high rate (almost half of the cases) of psychological disorders occurring in patients with chronic tinnitus. The patients diagnosed with psychological disorders were predominantly affected by affective and anxiety disorders. Psychological disorders were associated with severity of tinnitus distress. Our findings imply a need for routine comprehensive screening of mental disorders in patients with chronic tinnitus.

Autonomous motivation is associated with the maintenance stage of behaviour change in people with affective disorders.

PubMed

Vancampfort, Davy; Moens, Herman; Madou, Tomas; De Backer, Tanja; Vallons, Veerle; Bruyninx, Peter; Vanheuverzwijn, Sarah; Mota, Cindy Teixeira; Soundy, Andy; Probst, Michel

2016-06-30

The present study examined whether in people with affective disorders motives for adopting and maintaining physical activity recommendations (as formulated by the self-determination theory) differed across the stages of behaviour change (identified by the transtheoretical model). A total of 165 (105♀) persons (45.6±14.2years) with affective disorders [major depressive disorder (n=96) or bipolar disorder (n=69)] completed the Behavioural Regulation in Exercise Questionnaire-2 and the Patient-centred Assessment and Counselling for Exercise questionnaire. Discriminant and multivariate analyses demonstrated that persons with affective disorders at the early stages of change have less autonomous and more controlled physical activity motives than those at the later stages. Our results suggest that autonomous motivation may have an important role to play in the maintenance of health recommendations in persons with affective disorders. Longitudinal and intervention studies should be designed in people with affective disorders to identify the causal pathways between motives for maintaining health recommendations, effective changes in health behaviour and physical and mental health outcomes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Self-management of mood and/or anxiety disorders through physical activity/exercise

PubMed Central

Pelletier, Louise; Shamila, Shanmugasegaram; Scott B., Patten; Demers, Alain

2017-01-01

Abstract Introduction: Physical activity/exercise is regarded as an important self-management strategy for individuals with mental illness. The purpose of this study was to describe individuals with mood and/or anxiety disorders who were exercising or engaging in physical activity to help manage their disorders versus those who were not, and the facilitators for and barriers to engaging in physical activity/exercise. Methods: For this study, we used data from the 2014 Survey on Living with Chronic Diseases in Canada—Mood and Anxiety Disorders Component. Selected respondents (n = 2678) were classified according to the frequency with which they exercised: (1) did not exercise; (2) exercised 1 to 3 times a week; or (3) exercised 4 or more times a week. We performed descriptive and multinomial multiple logistic regression analyses. Estimates were weighted to represent the Canadian adult household population living in the 10 provinces with diagnosed mood and/or anxiety disorders. Results: While 51.0% of the Canadians affected were not exercising to help manage their mood and/or anxiety disorders, 23.8% were exercising from 1 to 3 times a week, and 25.3% were exercising 4 or more times a week. Increasing age and decreasing levels of education and household income adequacy were associated with increasing prevalence of physical inactivity. Individuals with a mood disorder (with or without anxiety) and those with physical comorbidities were less likely to exercise regularly. The most important factor associated with engaging in physical activity/exercise was to have received advice to do so by a physician or other health professional. The most frequently cited barriers for not exercising at least once a week were as follows: prevented by physical condition (27.3%), time constraints/too busy (24.1%) and lack of will power/self-discipline (15.8%). Conclusion: Even though physical activity/exercise has been shown beneficial for depression and anxiety symptoms, a large proportion of those with mood and/or anxiety disorders did not exercise regularly, particularly those affected by mood disorders and those with physical comorbidities. It is essential that health professionals recommend physical activity/exercise to their patients, discuss barriers and support their engagement.

Self-management of mood and/or anxiety disorders through physical activity/exercise.

PubMed

Pelletier, Louise; Shanmugasegaram, Shamila; Patten, Scott B; Demers, Alain

2017-05-01

Physical activity/exercise is regarded as an important self-management strategy for individuals with mental illness. The purpose of this study was to describe individuals with mood and/or anxiety disorders who were exercising or engaging in physical activity to help manage their disorders versus those who were not, and the facilitators for and barriers to engaging in physical activity/exercise. For this study, we used data from the 2014 Survey on Living with Chronic Diseases in Canada-Mood and Anxiety Disorders Component. Selected respondents (n = 2678) were classified according to the frequency with which they exercised: (1) did not exercise; (2) exercised 1 to 3 times a week; or (3) exercised 4 or more times a week. We performed descriptive and multinomial multiple logistic regression analyses. Estimates were weighted to represent the Canadian adult household population living in the 10 provinces with diagnosed mood and/or anxiety disorders. While 51.0% of the Canadians affected were not exercising to help manage their mood and/or anxiety disorders, 23.8% were exercising from 1 to 3 times a week, and 25.3% were exercising 4 or more times a week. Increasing age and decreasing levels of education and household income adequacy were associated with increasing prevalence of physical inactivity. Individuals with a mood disorder (with or without anxiety) and those with physical comorbidities were less likely to exercise regularly. The most important factor associated with engaging in physical activity/exercise was to have received advice to do so by a physician or other health professional. The most frequently cited barriers for not exercising at least once a week were as follows: prevented by physical condition (27.3%), time constraints/too busy (24.1%) and lack of will power/self-discipline (15.8%). Even though physical activity/exercise has been shown beneficial for depression and anxiety symptoms, a large proportion of those with mood and/or anxiety disorders did not exercise regularly, particularly those affected by mood disorders and those with physical comorbidities. It is essential that health professionals recommend physical activity/exercise to their patients, discuss barriers and support their engagement.

Hierarchical screening for multiple mental disorders.

PubMed

Batterham, Philip J; Calear, Alison L; Sunderland, Matthew; Carragher, Natacha; Christensen, Helen; Mackinnon, Andrew J

2013-10-01

There is a need for brief, accurate screening when assessing multiple mental disorders. Two-stage hierarchical screening, consisting of brief pre-screening followed by a battery of disorder-specific scales for those who meet diagnostic criteria, may increase the efficiency of screening without sacrificing precision. This study tested whether more efficient screening could be gained using two-stage hierarchical screening than by administering multiple separate tests. Two Australian adult samples (N=1990) with high rates of psychopathology were recruited using Facebook advertising to examine four methods of hierarchical screening for four mental disorders: major depressive disorder, generalised anxiety disorder, panic disorder and social phobia. Using K6 scores to determine whether full screening was required did not increase screening efficiency. However, pre-screening based on two decision tree approaches or item gating led to considerable reductions in the mean number of items presented per disorder screened, with estimated item reductions of up to 54%. The sensitivity of these hierarchical methods approached 100% relative to the full screening battery. Further testing of the hierarchical screening approach based on clinical criteria and in other samples is warranted. The results demonstrate that a two-phase hierarchical approach to screening multiple mental disorders leads to considerable increases efficiency gains without reducing accuracy. Screening programs should take advantage of prescreeners based on gating items or decision trees to reduce the burden on respondents. © 2013 Elsevier B.V. All rights reserved.

Military suicide: factors that need to be taken into consideration to understand the phenomena.

PubMed

Rodríguez, José R; Quiñones-Maldonado, Randy; Alvarado-Pomales, Awilda

2009-01-01

Soldier suicide rates, unfortunately, continue to rise in our military services. It is well known that military personnel are highly vulnerable to multiple psychopathologies due to a lack of social support system, traumatizing life events and deprived sense of control. Serious psychopathologies such as post-traumatic stress disorders, other anxiety disorders (i.e., generalized anxiety disorder) and depression may increase the risk of suicide. In addition, malingering may be a serious problem that can affect valid treatment due to an intentional production of false or grossly exaggerated physical or psychological symptoms, motivated by external incentive such as avoiding military duty or obtaining financial compensation. Moreover, Hispanic soldiers may be at a higher risk for such psychopathologies due to extreme marginalization conditions by military peers, lack of bilingual language management and discrimination that can severely affect their quality of life. Thus, it is important to recognize those problems in order to prevent them. Literature demonstrate that Primary Preventive Interventions (PPI) can help to reduce the incidence of psychiatric disorders due to an early identification of the mental conditions associate to serious outcome, such as suicide. Taking the previous factors into consideration, the relevant literature pertaining suicidality in service members and the mental disorders associated with it is reviewed. Furthermore, emphasis is made in the importance to develop and validate a battery of screening instruments that address the previous conditions in the military personnel, especially in the Hispanic/Latino soldier and/or veteran as future plans of interventions. This implies the creation, adaptation and administration of a Psychological Battery that will be culturally sensitive for Hispanic/Latino soldiers in which the screening of the previously mentioned pathologies and conditions can be identified. This may help to prevent serious psychological situations and extreme irreversible damage, such as suicide.

Attention-deficit hyperactivity disorder and nonsuicidal self-injury in a clinical sample of adolescents: the role of comorbidities and gender.

PubMed

Balázs, Judit; Győri, Dóra; Horváth, Lili Olga; Mészáros, Gergely; Szentiványi, Dóra

2018-02-06

The aim of the present study was to investigate the possible association between attention-deficit hyperactivity disorder (ADHD) and non-suicidal self-injury (NSSI) with special focus on the role of comorbidities and gender in a clinical sample of adolescents with both a dimensional and a categorical approach to psychopathology. Using a structured interview, the Mini International Neuropsychiatric Interview Kid and a self-rated questionnaire, the Deliberate Self-Harm Inventory, the authors examined 202 inpatient adolescents (aged: 13-18 years) in the Vadaskert Child and Adolescent Psychiatric Hospital and Outpatient Clinic, Budapest, Hungary. Descriptive statistics, Mann-Whitney U test, chi-square test and mediator model were used. Fifty-two adolescents met full criteria for ADHD and a further 77 showed symptoms of ADHD at the subthreshold level. From the 52 adolescents diagnosed with ADHD, 35 (67.30%) had NSSI, of whom there were significantly more girls than boys, boys: n = 10 (28.60%), girls: n = 25 (71.40%) ((χ 2 (1) = 10.643 p < .001 ϕ = .452). Multiple mediation analyses resulted in a moderated mediation model in which the relationship between symptoms of ADHD and the prevalence of current NSSI was fully mediated by the symptoms of comorbid conditions in both sex. Significant mediators were the symptoms of affective and psychotic disorders and suicidality in both sexes and the symptoms of alcohol abuse/dependence disorders in girls. ADHD symptoms are associated with an increased risk of NSSI in adolescents, especially in the case of girls. Our findings suggest that clinicians should routinely screen for the symptoms of ADHD and comorbidity, with a special focus on the symptoms of affective disorders and alcohol abuse/dependence psychotic symptoms to prevent NSSI.

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

PubMed

Basuta, Kirin; Schneider, Andrea; Gane, Louise; Polussa, Jonathan; Woodruff, Bryan; Pretto, Dalyir; Hagerman, Randi; Tassone, Flora

2015-09-01

Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders. Carriers of a premutation (55-200 CGG repeats) are generally not severely affected early in life; however, are at high risk of developing the late onset neurodegenerative disorder, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), or Fragile X-associated Primary Ovarian Insufficiency (FXPOI), and may have other medical conditions such as developmental delay, autism spectrum disorders, hypertension, anxiety, and immune-mediated disorders. Here we present a case of a 58-year-old man with a borderline IQ, average memory skills, and executive function deficits. He met criteria for multiple psychiatric diagnoses and presented with tremor and ataxia, meeting criteria for FXTAS. Molecular testing unveiled a completely unmethylated FMR1 full mutation in peripheral blood mononucleated cells with elevated FMR1 mRNA and premutation alleles of different sizes in two other tissues (primary fibroblasts and sperm), indicating the presence of allele instability based on both inter- and intra-tissue mosaicism. The observation of FXTAS in this case of a full mutation mosaic man suggests that the pathogenic mechanism underlying this disorder is not observed exclusively in premutation carriers as it was originally thought. The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated FMR1 mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS. © 2015 Wiley Periodicals, Inc.

Neurotoxicity

MedlinePlus

... disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms ... disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms ...

Mu opioid receptor availability in people with psychiatric disorders who died by suicide: a case control study

PubMed Central

2012-01-01

Background Mu opioid receptors have previously been shown to be altered in people with affective disorders who died as a result of suicide. We wished to determine whether these changes were more widespread and independent of psychiatric diagnoses. Methods Mu receptor levels were determined using [3 H]DAMGO binding in BA24 from 51 control subjects; 38 people with schizophrenia (12 suicides); 20 people with major depressive disorder (15 suicides); 13 people with bipolar disorder (5 suicides) and 9 people who had no history of psychiatric disorders but who died as a result of suicide. Mu receptor levels were further determined in BA9 and caudate-putamen from 38 people with schizophrenia and 20 control subjects using [3 H]DAMGO binding and, in all three regions, using Western blots. Data was analysed using one-way ANOVAs with Bonferroni’s Multiple Comparison Test or, where data either didn’t approximate to a binomial distribution or the sample size was too small to determine distribution, a Kruskal-Wallis test with Dunn’s Multiple Comparison Test. Results [3 H]DAMGO binding density was lower in people who had died as a result of suicide (p<0.01). People with schizophrenia who had died as a result of suicide had lower binding than control subjects (p<0.001), whilst people with bipolar disorder (non- suicide) had higher levels of binding (p<0.05). [3 H]DAMGO binding densities, but not mu protein levels, were significantly decreased in BA9 from people with schizophrenia who died as a result of suicide (p<0.01). Conclusions Overall these data suggest that mu opioid receptor availability is decreased in the brains of people with schizophrenia who died as a result of suicide, which would be consistent with increased levels of endogenous ligands occupying these receptors. PMID:22925223

How understanding the neurobiology of complex post-traumatic stress disorder can inform clinical practice: a social cognitive and affective neuroscience approach.

PubMed

Lanius, R A; Bluhm, R L; Frewen, P A

2011-11-01

In this review, we examine the relevance of the social cognitive and affective neuroscience (SCAN) paradigm for an understanding of the psychology and neurobiology of complex post-traumatic stress disorder (PTSD) and its effective treatment. The relevant literature pertaining to SCAN and PTSD was reviewed. We suggest that SCAN offers a novel theoretical paradigm for understanding psychological trauma and its numerous clinical outcomes, most notably problems in emotional/self-awareness, emotion regulation, social emotional processing and self-referential processing. A core set of brain regions appear to mediate these collective psychological functions, most notably the cortical midline structures, the amygdala, the insula, posterior parietal cortex and temporal poles, suggesting that problems in one area (e.g. emotional awareness) may relate to difficulties in another (e.g. self-referential processing). We further propose, drawing on clinical research, that the experiences of individuals with PTSD related to chronic trauma often reflect impairments in multiple social cognitive and affective functions. It is important that the assessment and treatment of individuals with complex PTSD not only addresses traumatic memories but also takes a SCAN-informed approach that focuses on the underlying deficits in emotional/self-awareness, emotion regulation, social emotional processing and self-referential processing. © 2011 John Wiley & Sons A/S.

Symptoms of Major Depressive Disorder Subsequent to Child Maltreatment: Examining Change across Multiple Levels of Analysis to Identify Transdiagnostic Risk Pathways

PubMed Central

Shenk, Chad E.; Griffin, Amanda M.; O’Donnell, Kieran J.

2016-01-01

Major depressive disorder (MDD) is a prevalent psychiatric condition in the child maltreatment population. However, not all children who have been maltreated will develop MDD or MDD symptoms, suggesting the presence of unique risk pathways that explain how certain children develop MDD symptoms when others do not. The current study tested several candidate risk pathways to MDD symptoms following child maltreatment: 1) neuroendocrine, 2) autonomic, 3) affective, and 4) emotion regulation. Female adolescents (N=110; Age range: 14–19) were recruited into a substantiated child maltreatment or comparison condition and completed a laboratory stressor, saliva samples, and measures of emotion regulation, negative affect, and MDD symptoms. MDD symptoms were reassessed eighteen months later. Mediational modeling revealed that emotion regulation was the only significant indirect effect of the relationship between child maltreatment and subsequent MDD symptoms, demonstrating that children exposed to maltreatment had greater difficulties managing affective states that in turn led to more severe MDD symptoms. These results highlight the importance of emotion dysregulation as a central risk pathway to MDD following child maltreatment. Areas of future research and implications for optimizing prevention and clinical intervention through the direct targeting of transdiagnostic risk pathways are discussed. PMID:26535940

Characterization of Depression in Children with Autism Spectrum Disorders

PubMed Central

Magnuson, Katherine M.; Constantino, John N.

2011-01-01

Depressive syndromes represent a disabling comorbidity for many children with autism spectrum disorders (ASD), however the ascertainment of depression can be complicated by phenotypic overlap between the two conditions, by ways in which autistic symptomatology can mask cardinal features of depression, and by atypical manifestations of depression in children with ASD. These issues have contributed to wide variation in the estimation of prevalence rates of depression in individuals with ASD, and invoke the need for new approaches to the specific detection of depression and other neuropsychiatric comorbidities that aggregate in children affected by ASD. We review the scientific literature relevant to the occurrence of depression in ASD, and consider important parameters of risk, including psychosocial factors such as insight into affectation status, as well as biological factors such as the aggregation of depressive syndromes in certain families affected by autism, which has suggested possible overlap in genetic influences underlying the two conditions. Variability in the manifestations of depression across environmental contexts provides important clues to intervention, and underscores the potential importance of involving multiple informants in ascertaining depression in children and adolescents with ASD. A practical strategy for evaluating the presence of depression in youth with ASD is synthesized from the available data and discussed. PMID:21502871

Inner speech is used to mediate short-term memory, but not planning, among intellectually high-functioning adults with autism spectrum disorder.

PubMed

Williams, David M; Bowler, Dermot M; Jarrold, Christopher

2012-02-01

Evidence regarding the use of inner speech by individuals with autism spectrum disorder (ASD) is equivocal. To clarify this issue, the current study employed multiple techniques and tasks used across several previous studies. In Experiment 1, participants with and without ASD showed highly similar patterns and levels of serial recall for visually presented stimuli. Both groups were significantly affected by the phonological similarity of items to be recalled, indicating that visual material was spontaneously recoded into a verbal form. Confirming that short-term memory is typically verbally mediated among the majority of people with ASD, recall performance among both groups declined substantially when inner speech use was prevented by the imposition of articulatory suppression during the presentation of stimuli. In Experiment 2, planning performance on a tower of London task was substantially detrimentally affected by articulatory suppression among comparison participants, but not among participants with ASD. This suggests that planning is not verbally mediated in ASD. It is important that the extent to which articulatory suppression affected planning among participants with ASD was uniquely associated with the degree of their observed and self-reported communication impairments. This confirms a link between interpersonal communication with others and intrapersonal communication with self as a means of higher order problem solving.

Design challenges in transdiagnostic psychotherapy research: Comparing Transdiagnostic Behavior Therapy (TBT) to existing evidence-based psychotherapy in veterans with affective disorders.

PubMed

Gros, Daniel F

2015-07-01

To address the limitations of disorder-specific approaches, newer transdiagnostic approaches to psychotherapy have been developed to provide a single treatment that is capable of addressing several, related disorders. However, the recruitment of multiple diagnoses presents many challenges to the traditional design of psychotherapy randomized controlled trials (RCTs). The goal of the manuscript is to present the challenges and rationale for designing a RCT for transdiagnostic treatment to inform and aid in the development of future investigations. A recently funded and ongoing RCT for Transdiagnostic Behavior Therapy (TBT) is used as an example to discuss the related design challenges. The TBT study involves the recruitment of 96 veteran participants with any of the following eight principal diagnoses: posttraumatic stress disorder, panic disorder, social anxiety disorder, obsessive compulsive disorder, generalized anxiety disorder, specific phobia, major depressive disorder, or persistent depressive disorder. Within the TBT study, participants will complete a semi-structured diagnostic interview and a series of transdiagnostic self-report measures to determine eligibility and assess baseline symptomatology. Qualifying participants will be randomized to TBT or control psychotherapy. Additional assessments will be completed at post-treatment and 6-month follow-up. Due to the transdiagnostic nature of the sample, adjustments to the recruitment and randomization procedures, selection of measures, selection of control psychotherapy, and analysis plan were required. These adjustments have implications to future trials on transdiagnostic psychotherapy protocols as well as future research in line with the transdiagnostic focus of the National Institute of Mental Health's Research Domain Criteria (RDoC) funding strategy. Published by Elsevier Inc.

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

PubMed

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

2014-10-01

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

The Effects of Birth Order and Birth Interval on the Phenotypic Expression of Autism Spectrum Disorder

PubMed Central

Martin, Loren A.; Horriat, Narges L.

2012-01-01

A rise in the prevalence of diagnosed cases of autism spectrum disorder (ASD) has been reported in several studies in recent years. While this rise in ASD prevalence is at least partially related to increased awareness and broadened diagnostic criteria, the role of environmental factors cannot be ruled out, especially considering that the cause of most cases of ASD remains unknown. The study of families with multiple affected children can provide clues about ASD etiology. While the majority of research on ASD multiplex families has focused on identifying genetic anomalies that may underlie the disorder, the study of symptom severity across ASD birth order may provide evidence for environmental factors in ASD. We compared social and cognitive measures of behavior between over 300 first and second affected siblings within multiplex autism families obtained from the Autism Genetic Resource Exchange dataset. Measures included nonverbal IQ assessed with the Ravens Colored Progressive Matrices, verbal IQ assessed with the Peabody Picture Vocabulary Test, and autism severity assessed with the Social Responsiveness Scale (SRS), an instrument established as a quantitative measure of autism. The results indicated that females were more severely impacted by ASD than males, especially first affected siblings. When first and second affected siblings were compared, significant declines in nonverbal and verbal IQ scores were observed. In addition, SRS results demonstrated a significant increase in autism severity between first and second affected siblings consistent with an overall decline in function as indicated by the IQ data. These results remained significant after controlling for the age and sex of the siblings. Surprisingly, the SRS scores were found to only be significant when the age difference between siblings was less than 2 years. These results suggest that some cases of ASD are influenced by a dosage effect involving unknown epigenetic, environmental, and/or immunological factors. PMID:23226454

Foot Drop

MedlinePlus

... muscular problems, such as multiple sclerosis, stroke, and cerebral palsy; motor neuron disorders such as polio, some forms ... muscular problems, such as multiple sclerosis, stroke, and cerebral palsy; motor neuron disorders such as polio, some forms ...

Renal complications in multiple myeloma and related disorders: survivorship care plan of the International Myeloma Foundation Nurse Leadership Board.

PubMed

Faiman, Beth M; Mangan, Patricia; Spong, Jacy; Tariman, Joseph D

2011-08-01

Kidney dysfunction is a common clinical feature of symptomatic multiple myeloma. Some degree of renal insufficiency or renal failure is present at diagnosis or will occur during the course of the disease and, if not reversed, will adversely affect overall survival and quality of life. Chronic insults to the kidneys from other illnesses, treatment, or multiple myeloma itself can further damage renal function and increase the risk for additional complications, such as anemia. Patients with multiple myeloma who have light chain (Bence Jones protein) proteinuria may experience renal failure or progress to end-stage renal disease (ESRD) and require dialysis because of light chain cast nephropathy. Kidney failure in patients with presumed multiple myeloma also may result from amyloidosis, light chain deposition disease, or acute tubular necrosis caused by nephrotoxic agents; therefore, identification of patients at risk for kidney damage is essential. The International Myeloma Foundation's Nurse Leadership Board has developed practice recommendations for screening renal function, identifying positive and negative contributing risk and environmental factors, selecting appropriate therapies and supportive care measures to decrease progression to ESRD, and enacting dialysis to reduce and manage renal complications in patients with multiple myeloma.

Sarcoidosis and multiple myeloma: Concurrent presentation of an unusual association

PubMed Central

Nair, Vidya; Prajapat, Deepak; Talwar, Deepak

2016-01-01

Literature on concurrent association of sarcoidosis with lymphoproliferative malignancies other than lymphoma e.g. multiple myeloma is meager. The rarity of the situation prompted us to report this patient who was a 51-year-old woman with a 2-years history of breathlessness, cough with expectoration, chest pain and backache. Initial evaluation revealed mild anemia, increased alkaline phosphatase with chest skiagram showing both lower zone non homogenous opacities with calcified hilar lymph nodes. CECT chest showed mediastinal with bilateral hilar lymphadenopathy, parenchymal fibrosis, traction bronchiectasis, ground glass opacities, septal and peribronchovascular thickening affecting mid and lower lung zones bilaterally. MRI Dorsolumbar spine was suggestive of marrow infiltrative disorder. EBUS FNA of intrathoracic nodes, EBB and TBLB confirmed sarcoidosis. PET CT revealed hyper metabolic activity in lung, multiple lymph nodes and lytic bone lesions. Serum protein electrophoresis and immunofixation revealed a monoclonal paraprotein, immunoglobulin IgG kappa type. Bone marrow biopsy revealed an increase in plasma cells (15%), but no granulomas. Diagnosis of Indolent or multiple myeloma with sarcoidosis was established. 12 cases of sarcoidosis and multiple myeloma have been reported in literature, and mostly preceding the onset of multiple myeloma by many years, in our case both were diagnosed concurrently. PMID:26933313

Predicting social and communicative ability in school-age children with autism spectrum disorder: A pilot study of the Social Attribution Task, Multiple Choice.

PubMed

Burger-Caplan, Rebecca; Saulnier, Celine; Jones, Warren; Klin, Ami

2016-11-01

The Social Attribution Task, Multiple Choice is introduced as a measure of implicit social cognitive ability in children, addressing a key challenge in quantification of social cognitive function in autism spectrum disorder, whereby individuals can often be successful in explicit social scenarios, despite marked social adaptive deficits. The 19-question Social Attribution Task, Multiple Choice, which presents ambiguous stimuli meant to elicit social attribution, was administered to children with autism spectrum disorder (N = 23) and to age-matched and verbal IQ-matched typically developing children (N = 57). The Social Attribution Task, Multiple Choice performance differed between autism spectrum disorder and typically developing groups, with typically developing children performing significantly better than children with autism spectrum disorder. The Social Attribution Task, Multiple Choice scores were positively correlated with age (r = 0.474) while being independent from verbal IQ (r = 0.236). The Social Attribution Task, Multiple Choice was strongly correlated with Vineland Adaptive Behavior Scales Communication (r = 0.464) and Socialization (r = 0.482) scores, but not with Daily Living Skills scores (r = 0.116), suggesting that the implicit social cognitive ability underlying performance on the Social Attribution Task, Multiple Choice is associated with real-life social adaptive function. © The Author(s) 2016.

The Treatment Efficacy of Multiple Opposition Phonological Approach via Telepractice for Two Children with Severe Phonological Disorders in Rural Areas of West Texas in the USA

ERIC Educational Resources Information Center

Lee, Sue Ann S.

2018-01-01

The goals of the present study were to (1) examine the effects of the multiple opposition phonological approach on improving phoneme production accuracy in children with severe phonological disorders and (2) explore whether the multiple opposition approach is feasible for the telepractice service delivery model. A multiple-baseline,…

An experimental investigation of mentalization ability in borderline personality disorder.

PubMed

Petersen, Robyn; Brakoulias, Vlasios; Langdon, Robyn

2016-01-01

Deficits in mentalization ability have been theorized to underlie borderline personality disorder (BPD) and have led to mentalization-based treatments. Yet there has been little empirical investigation into whether mentalization deficits do differentiate the BPD population from healthy controls, and the specific nature of these differences. Five pre-existing Theory of Mind (ToM) tasks that assessed simple to complex mentalization capacity in both the affective and cognitive domains were administered to the same groups of age and gender matched patients with BPD and controls. Self-report measures assessed cognitive and affective empathy and childhood trauma and abuse. The BPD group did not differ significantly from the healthy control group on basic cognitive false-belief picture-sequencing tasks, or on overall accuracy when discriminating mental states from viewing images of eyes, and attributing emotions based on social events. They were, however, significantly less accurate in identifying positive mental states on the Reading the Mind in the Eyes (RME) task and showed significantly more mentalization errors on affective and cognitive understanding of faux pas (faux pas total score p<.01) and on a Joke Appreciation task (p=.01), that required integration of multiple perspectives. They also self-reported less empathic perspective taking (p<.01). Observation of patterns of performance hinted at specific underlying biases (e.g. a default tendency to use superficial black-and-white attributions to others, such as, "he is mean", when explaining behavior). It was also found that as childhood experiences of punishment increased, adulthood mentalization ability decreased on all affective ToM tasks and on the cognitive and affective components of understanding faux pas. The BPD group was as capable as controls in undertaking simple mentalization. However, deficits in mentalization capacity became evident when mentalization tasks became more complex and required the integration of multiple perspectives. Increasing childhood experiences of punishment were related to decreasing mentalization ability in adulthood. Findings support the use of treatments to improve mentalization skills in BPD, however, further research is needed to better specify the nature of underlying mentalizing biases in this population. Copyright © 2015 Elsevier Inc. All rights reserved.

Self-stigma in borderline personality disorder – cross-sectional comparison with schizophrenia spectrum disorder, major depressive disorder, and anxiety disorders

PubMed Central

Grambal, Ales; Prasko, Jan; Kamaradova, Dana; Latalova, Klara; Holubova, Michaela; Marackova, Marketa; Ociskova, Marie; Slepecky, Milos

2016-01-01

Introduction Self-stigma arises from one’s acceptance of societal prejudices and is common in psychiatric patients. This investigation compares the self-stigma of a sample of patients with borderline personality disorder (BPD), schizophrenia spectrum disorder (SCH), major depressive disorder (MDD), bipolar affective disorder (BAD), and anxiety disorders (AD) and explores of the self-stigma with the subjective and objective measures of the severity of the disorder and demographic factors. Methods The total of 184 inpatients admitted to the psychotherapeutic department diagnosed with BPD, SCH, MDD, BAP, and AD were compared on the internalized stigma of mental illness (ISMI) scale. The ISMI-total score was correlated with the subjective and objective evaluation of the disorder severity (clinical global impression), and clinical and demographic factors. Results The self-stigma levels were statistically significantly different among the diagnostic groups (BPD 71.15±14.74; SCH 63.2±13.27; MDD 64.09±12.2; BAD 62.0±14.21; AD 57.62±15.85; one-way analysis of variance: F=8.698, df=183; P<0.005). However after applying the Bonferroni’s multiple comparison test, the only significant difference was between the BPD patients and the patients with AD (P<0.001). Stepwise regression analysis showed that the strongest factors connected with the higher level of self-stigma were being without partner, the number of hospitalization, and the severity of the disorder. Conclusion The BPD patients suffer from a higher level of self-stigma compared to patients with AD. In practice, it is necessary to address the reduction of self-stigma by using specific treatment strategies, such as cognitive therapy. PMID:27703362

Cardiovascular fitness in late adolescent males and later risk of serious non-affective mental disorders: a prospective, population-based study.

PubMed

Nyberg, J; Henriksson, M; Åberg, M A I; Rosengren, A; Söderberg, M; Åberg, N D; Kuhn, H G; Waern, M

2018-02-01

Cardiovascular fitness in late adolescence is associated with future risk of depression. Relationships with other mental disorders need elucidation. This study investigated whether fitness in late adolescence is associated with future risk of serious non-affective mental disorders. Further, we examined how having an affected brother might impact the relationship. Prospective, population-based cohort study of 1 109 786 Swedish male conscripts with no history of mental illness, who underwent conscription examinations at age 18 between 1968 and 2005. Cardiovascular fitness was objectively measured at conscription using a bicycle ergometer test. During the follow-up (3-42 years), incident cases of serious non-affective mental disorders (schizophrenia and schizophrenia-like disorders, other psychotic disorders and neurotic, stress-related and somatoform disorders) were identified through the Swedish National Hospital Discharge Register. Cox proportional hazards models were used to assess the influence of cardiovascular fitness at conscription and risk of serious non-affective mental disorders later in life. Low fitness was associated with increased risk for schizophrenia and schizophrenia-like disorders [hazard ratio (HR) 1.44, 95% confidence interval (CI) 1.29-1.61], other psychotic disorders (HR 1.41, 95% CI 1.27-1.56), and neurotic or stress-related and somatoform disorders (HR 1.45, 95% CI 1.37-1.54). Relationships persisted in models that included illness in brothers. Lower fitness in late adolescent males is associated with increased risk of serious non-affective mental disorders in adulthood.

No association between serum cholesterol and death by suicide in patients with schizophrenia, bipolar affective disorder, or major depressive disorder.

PubMed

Park, Subin; Yi, Ki Kyoung; Na, Riji; Lim, Ahyoung; Hong, Jin Pyo

2013-12-05

Previous research on serum total cholesterol and suicidality has yielded conflicting results. Several studies have reported a link between low serum total cholesterol and suicidality, whereas others have failed to replicate these findings, particularly in patients with major affective disorders. These discordant findings may reflect the fact that studies often do not distinguish between patients with bipolar and unipolar depression; moreover, definitions and classification schemes for suicide attempts in the literature vary widely. Subjects were patients with one of the three major psychiatric disorders commonly associated with suicide: schizophrenia, bipolar affective disorder, and major depressive disorder (MDD). We compared serum lipid levels in patients who died by suicide (82 schizophrenia, 23 bipolar affective disorder, and 67 MDD) and non-suicide controls (200 schizophrenia, 49 bipolar affective disorder, and 175 MDD). Serum lipid profiles did not differ between patients who died by suicide and control patients in any diagnostic group. Our results do not support the use of biological indicators such as serum total cholesterol to predict suicide risk among patients with a major psychiatric disorder.

Thoracic Outlet Syndrome

MedlinePlus

... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ...

Emotional Disorders in People with Multiple Sclerosis

MedlinePlus

... most common mood disorders in MS are: • Major depressive disorder • Anxiety disorders • Adjustment disorder • Bipolar disorder Some mood ... phone for 16 weeks may help treat major depressive disorder. There is not enough evidence to show whether ...

Automatic processing of facial affects in patients with borderline personality disorder: associations with symptomatology and comorbid disorders.

PubMed

Donges, Uta-Susan; Dukalski, Bibiana; Kersting, Anette; Suslow, Thomas

2015-01-01

Instability of affects and interpersonal relations are important features of borderline personality disorder (BPD). Interpersonal problems of individuals suffering from BPD might develop based on abnormalities in the processing of facial affects and high sensitivity to negative affective expressions. The aims of the present study were to examine automatic evaluative shifts and latencies as a function of masked facial affects in patients with BPD compared to healthy individuals. As BPD comorbidity rates for mental and personality disorders are high, we investigated also the relationships of affective processing characteristics with specific borderline symptoms and comorbidity. Twenty-nine women with BPD and 38 healthy women participated in the study. The majority of patients suffered from additional Axis I disorders and/or additional personality disorders. In the priming experiment, angry, happy, neutral, or no facial expression was briefly presented (for 33 ms) and masked by neutral faces that had to be evaluated. Evaluative decisions and response latencies were registered. Borderline-typical symptomatology was assessed with the Borderline Symptom List. In the total sample, valence-congruent evaluative shifts and delays of evaluative decision due to facial affect were observed. No between-group differences were obtained for evaluative decisions and latencies. The presence of comorbid anxiety disorders was found to be positively correlated with evaluative shifting owing to masked happy primes, regardless of baseline-neutral or no facial expression condition. The presence of comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression were significantly correlated with response delay due to masked angry faces, regardless of baseline. In the present affective priming study, no abnormalities in the automatic recognition and processing of facial affects were observed in BPD patients compared to healthy individuals. The presence of comorbid anxiety disorders could make patients more susceptible to the influence of a happy expression on judgment processes at an automatic processing level. Comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression may enhance automatic attention allocation to threatening facial expressions in BPD. Increased automatic vigilance for social threat stimuli might contribute to affective instability and interpersonal problems in specific patients with BPD.

Proposal for a new self-compiled questionnaire in patients affected by temporo-mandibular joint disorders (TMD).

PubMed

Agrillo, A; Ramieri, V; Bianca, C; Nastro Siniscalchi, E; Fatone, F M G; Arangio, P

2010-07-01

In this work, we propose a self-compiled questionnaire, for those patients showing dysfunctions of the temporomandibular joint. The questionnaire, composed by 33 closed multiple-choice questions, represents one of the steps in the diagnostic procedure, together with the clinical notes compiled by the medical specialist and with the other necessary diagnostic researches. It also has the purpose to make easier anamnesis and clinic procedure and gathering of all informations useful for a right clinical diagnosis, and so for an appropriate therapy.

Stiff-Person Syndrome

MedlinePlus

... The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A ... The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A ...

A Multiple Deficit Model of Reading Disability and Attention-Deficit/Hyperactivity Disorder: Searching for Shared Cognitive Deficits

ERIC Educational Resources Information Center

McGrath, Lauren M.; Pennington, Bruce F.; Shanahan, Michelle A.; Santerre-Lemmon, Laura E.; Barnard, Holly D.; Willcutt, Erik G.; DeFries, John C.; Olson, Richard K.

2011-01-01

Background: This study tests a multiple cognitive deficit model of reading disability (RD), attention-deficit/hyperactivity disorder (ADHD), and their comorbidity. Methods: A structural equation model (SEM) of multiple cognitive risk factors and symptom outcome variables was constructed. The model included phonological awareness as a unique…

Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps.

PubMed

Wan, John Mun Chin; Wong, Jill Su Lin; Tee, Shang-Ian

2012-12-01

Steatocystoma multiplex (SM) is an uncommon cutaneous disorder characterised by multiple intradermal cysts distributed over the trunk and proximal extremities. This condition affects both genders and is often inherited as an autosomal dominant trait, although sporadic cases have been described. This report describes the mammographic and sonographic features of the cysts, which presented as breast lumps, for evaluation. The cysts appeared as numerous well-circumscribed, radiolucent nodules with thin radiodense rims on mammography. On sonography, the cysts could be hypoechoic, isoechoic or demonstrate mixed echoes containing debris-fluid levels, depending on the amount of clear oily liquid and keratinous material. SM can be diagnosed based on a clinical setting of multiple asymptomatic small intradermal nodules over the trunk and proximal extremities, positive family history and imaging findings.

Neuro-ophthalmologic aspects of multiple sclerosis: Using eye movements as a clinical and experimental tool

PubMed Central

Niestroy, Annette; Rucker, Janet C; Leigh, R John

2007-01-01

Ocular motor disorders are a well recognized feature of multiple sclerosis (MS). Clinical abnormalities of eye movements, early in the disease course, are associated with generalized disability, probably because the burden of disease in affected patients falls on the brainstem and cerebellar pathways, which are important for gait and balance. Measurement of eye movements, especially when used to detect internuclear ophthalmoplegia (INO), may aid diagnosis of MS. Measurement of the ocular following response to moving sinusoidal gratings of specified spatial frequency and contrast can be used as an experimental tool to better understand persistent visual complaints in patients who have suffered optic neuritis. Patients with MS who develop acquired pendular nystagmus often benefit from treatment with gabapentin or memantine. PMID:19668480

Antecedents of eating disorders and muscle dysmorphia in a non-clinical sample.

PubMed

Lamanna, J; Grieve, F G; Derryberry, W Pitt; Hakman, M; McClure, A

2010-01-01

Muscle Dysmorphia (MD) has recently been conceptualized as the male form of Eating Disorders (ED); although, it is not currently classified as an ED. The current study compares etiological models of MD symptomatology and ED symptomatology. It was hypothesized that sociocultural influences on appearance (SIA) would predict body dissatisfaction (BD), and that this relationship would be mediated by self-esteem (SE) and perfectionism (P); that BD would predict negative affect (NA); and that NA would predict MD and ED symptomatology. Two-hundred-forty-seven female and 101 male college students at a midsouth university completed the study. All participants completed measures assessing each of the constructs, and multiple regression analyses were conducted to test each model's fit. In both models, most predictor paths were significant. These results suggest similarity in symptomatology and etiological models between ED and MD.

Necrotizing infundibular crystalline folliculitis: a clinicopathological study.

PubMed

Denisjuk, Natalja; Hilty, Norbert; Pfaltz, Madeleine; Kempf, Werner

2012-05-01

Necrotizing infundibular crystalline folliculitis (NICF) is a folliculocentric disorder associated with filamentous crystalline deposits, enclosed by parakeratotic columns within the partly necrotic follicular ostium and infundibulum. There are only very few data published about this disorder of unknown origin. We sought to determine the clinicopathological features and pathogenetic aspects of NICF. Clinicopathological characterization of 9 patients with NICF and a second group of 7 patients with coincidental findings of NICF in the vicinity of epithelial skin neoplasms was conducted. Clinically, NICF is characterized by multiple waxy papules with predilection for the forehead (56%), neck, and back. Birefringent crystalline deposits were present in the follicular ostia and enclosed by parakeratotic columns in all cases. The necrosis of follicular epithelium was found in 89% and perifollicular neutrophilic infiltrate in 22% of the biopsy specimens. Both yeasts and gram-positive bacteria were identified within the affected follicles in 56% in the first group and 86% in the second group of coincidental NICF. This was a single-center retrospective study. NICF is both a distinct entity and an epiphenomenon in the context of other disorders. In regard to the common association with yeasts and gram-positive bacteria in the affected follicles, we hypothesize that NICF is pathogenetically linked to these organisms, which is supported by resolution of the lesions after topical or systemic antimycotic treatment. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Self-oriented and socially prescribed perfectionism dimensions and their associations with disordered eating.

PubMed

Bardone-Cone, Anna M

2007-08-01

This study examined the relationship between self-oriented and socially prescribed dimensions of perfectionism (using two measures of perfectionism) and disordered eating assessed across multiple time points in a sample of young women. Study participants (n=406) reported on their levels of perfectionism and on their subsequent patterns of dieting and bulimic symptoms. Self-oriented perfectionism was strongly linked to dietary restraint, whether using the theoretically derived perfectionism dimensions from the Multidimensional Perfectionism Scale (MPS) [Hewitt, P.L., & Flett, G.L. (1991a). Perfectionism in the self and social contexts: Conceptualization, assessment, and association with psychopathology. Journal of Personality and Social Psychology, 60, 456-470] or the dimensions derived from the Perfectionism subscale of the Eating Disorder Inventory (EDI) [Garner, D. M., Olmsted, M. P., & Polivy, J. (1983). Development and validation of a multidimensional eating disorder inventory for anorexia nervosa and bulimia. International Journal of Eating Disorders, 2, 15-34]. A less clear-cut pattern emerged when bulimic symptoms were investigated, with both self-oriented (MPS and EDI) and socially prescribed perfectionism (MPS) being associated with bulimic symptoms. After controlling for negative affect, only a self-oriented dimension of perfectionism predicted unique variance in bulimic symptoms. What constitutes maladaptive perfectionism, concerns about using EDI-Perfectionism dimensions interchangeably with MPS dimensions, and future directions are discussed.

The impact of childhood adversities on anxiety and depressive disorders in adulthood.

PubMed

Marackova, Marketa; Prasko, Jan; Matousek, Stanislav; Latalova, Klara; Hruby, Radovan; Holubova, Michaela; Slepecky, Milos; Vrbova, Kristyna; Grambal, Ales

2016-12-01

The childhood adversities model is generally accepted as a predictor of adult psychopathology vulnerability. It stems from child development theories, but the question remains as of how well solid research supports it. The aim of this article is to give a review of the studies concerning childhood adversities and their impact on the development of anxiety disorders and major depressive disorder in adulthood. A computerized search of the MEDLINE database of publications up to 31 March 2016 was done, using the keywords "childhood adversities, abuse, maltreatment, bullying" and "anxiety disorders, depressive disorder". No backward time constraints were used. Non-original studies, conference abstracts, books and book chapters, commentaries, and dissertations were excluded. The influence of childhood adversities on later age psychopathology is examined in five categories: the negative family atmosphere, abuse, loss of a close person, the social difficulties, and problems at school (including, most importantly bullying). The majority of studies confirmed the connection between childhood adversities and anxiety and depression disorders in adulthood. The character of the adversities is not, apparently, a specific predictor for a concrete psychopathology. Multiple adversities are more frequently connected with depressive and anxiety disorders in adulthood, cumulating together in broader adverse context. Childhood adversities were found to increase vulnerability to the distress, depression, fear and anxiety later in the life. However, specific correlations between a given childhood adversity and a specific form of depression or anxiety disorder were either not found or weak. This is in line with the generally accepted view considering each of these factors a non-specific stressor increasing vulnerability to mood and affect disorders later in life.

A primer on binge eating disorder diagnosis and management.

PubMed

Citrome, Leslie

2015-12-01

Binge eating disorder (BED) is the most common eating disorder, with an estimated lifetime prevalence of 2.6% among U.S. adults, yet often goes unrecognized. In the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), BED is defined by recurrent episodes of binge eating (eating in a discrete period of time an amount of food larger than most people would eat in a similar amount of time under similar circumstances and a sense of lack of control over eating during the episode), occurring on average at least once a week for 3 months, and associated with marked distress. It can affect both men and women, regardless if they are at normal weight, overweight, or obese, and regardless of their ethnic or racial group. Psychiatric comorbidities are very common, with 79% of adults with BED also experiencing anxiety disorders, mood disorders, impulse control disorders, or substance use disorders; almost 50% of persons with BED have ≥ 3 psychiatric comorbidities. Multiple neurobiological explanations have been proffered for BED, including dysregulation in reward center and impulse control circuitry, with potentially related disturbances in dopamine neurotransmission and endogenous μ-opioid signaling. Additionally, there is interplay between genetic influences and environmental stressors. Psychological treatments such as cognitive behavioral interventions have been recommended as first line and are supported by meta-analytic reviews. Unfortunately, routine medication treatments for anxiety and depression do not necessarily ameliorate the symptoms of BED; however, at present, there is one approved agent for the treatment of moderate to severe BED-lisdexamfetamine, a stimulant that was originally approved for the treatment of attention deficit hyperactivity disorder.

Cultivating the Multiple Sclerosis Workforce of the Future.

PubMed

DeLuca, Gabriele C; Buckle, Guy; Cortese, Irene; Graves, Jennifer S; Halper, June; Newsome, Scott D; Sicotte, Nancy; Ford, Corey C

2017-01-01

Multiple sclerosis (MS) is a complex neurologic disorder that affects people with ever-changing needs. The MS health-care field has entered an era of exponential knowledge growth in which better understanding of the immunologic dysregulation of the disease has translated into an expanding array of treatment options. It is estimated that, if it has not already, within the next decade the demands of a growing MS patient population will outstrip the number of professionals dedicated to the management of this chronic, lifelong disease. Therefore, there is a pressing need to attract and retain clinicians in this dynamic field. In response to this need, the Foundation of the Consortium of Multiple Sclerosis Centers organized a 2-day colloquium, a Mentorship Forum, on January 23-24, 2015, bringing together talented internal medicine and neurology trainees from across North America with an interest in MS and neuroimmunology. This article highlights the rationale for the MS Mentorship Forum, its structure and content, and its outcomes. We believe that the stage has been set to interest young, promising clinicians in learning more about MS and to encourage them to consider a career in this field. In so doing, we hope to contribute to the development of the next generation of MS experts to make a palpable difference in the lives of those affected by MS.

Cancer risk among patients with multiple sclerosis: A cohort study in Isfahan, Iran

PubMed Central

Etemadifar, Masoud; Jahanbani-Ardakani, Hamidreza; Ghaffari, Sara; Fereidan-Esfahani, Maboobeh; Changaei, Hossein; Aghadoost, Nazila; Jahanbani Ardakani, Ameneh; Moradkhani, Negin

2017-01-01

Background: Multiple sclerosis (MS), a central nervous system (CNS) autoimmune disorder, affects 2.3 million people around the world. Cancer kills around 7.5 million people annually. Both diseases have similar risks and intertwining molecular causes. Most studies focusing on MS and cancer have found an insignificant difference or reduction in the amount of cancer found in the MS community. Methods: We performed a cohort study using data from Isfahan Multiple Sclerosis Society (IMSS) and Isfahan cancer society and followed-up for 8 years on average (2006-2014). All of the 1718 MS patients were diagnosed according to McDonald’s criteria, then standardized incidence ratio and the numbers of expected cancer case were calculated. Results: While patients had an insignificant change in cancer prevalence, men had fewer cancer cases and women showed an increased prevalence of cancer. Certain types of cancer proved statistically significant. Breast cancer, nervous system cancers, and lymphoma were elevated in the cohort. Conclusion: Our results support the hypothesis that MS significantly affects certain cancers in a protective or associative manner. All cancer rates, except breast cancer, cancers located in the nervous system, and lymphomas were reduced in cohort, suggesting that unregulated immune function may provide protective effects to MS patients against cancer. PMID:28932368

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.

PubMed

Li, Fei-Feng; Wang, Xu-Dong; Zhu, Min-Wei; Lou, Zhi-Hong; Zhang, Qiong; Zhu, Chun-Yu; Feng, Hong-Lin; Lin, Zhi-Guo; Liu, Shu-Lin

2015-12-01

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.

Independence of familial transmission of mania and depression: results of the NIMH family study of affective spectrum disorders.

PubMed

Merikangas, K R; Cui, L; Heaton, L; Nakamura, E; Roca, C; Ding, J; Qin, H; Guo, W; Shugart, Y Y; Yao-Shugart, Y; Zarate, C; Angst, J

2014-02-01

The goal of this study is to investigate the familial transmission of the spectrum of bipolar disorder in a nonclinical sample of probands with a broad range of manifestations of mood disorders. The sample included a total of 447 probands recruited from a clinically enriched community screening and their 2082 adult living and deceased first-degree relatives. A best estimate diagnostic procedure that was based on either direct semistructured interview or structured family history information from multiple informants regarding non-interviewed relatives was employed. Results revealed that there was specificity of familial aggregation of bipolar I (BP I; odds ratio (OR)=8.40; 3.27-20.97; h2=0.83) and major depressive disorder (OR=2.26; 1.58-3.22; h2=0.20), but not BP II. The familial aggregation of BP I was primarily attributable to the familial specificity of manic episodes after adjusting for both proband and relative comorbid anxiety and substance use disorders. There was no significant cross-aggregation between mood disorder subtypes suggesting that the familial transmission of manic and major depressive episodes is independent despite the high magnitude of comorbidity between these mood states. These findings confirm those of earlier studies of the familial aggregation of bipolar disorder and major depression in the first nonclinical sample, and the largest family study of bipolar disorder in the USA using contemporary nonhierarchical diagnostic criteria for mood and anxiety disorders. The results suggest that these major components of bipolar disorder may represent distinct underlying pathways rather than increasingly severe manifestations of a common underlying diathesis. Therefore, dissection of the broad bipolar phenotype in genetic studies could actually generate new findings that could index novel biologic pathways underlying bipolar disorder.

34 CFR 350.5 - What definitions apply?

Code of Federal Regulations, 2011 CFR

2011-07-01

... expected to require multiple vocational rehabilitation services over an extended period of time; and (iii..., hemiplegia, hemophilia, respiratory or pulmonary dysfunction, mental retardation, mental illness, multiple sclerosis, muscular dystrophy, musculoskeletal disorders, neurological disorders (including stroke and...

34 CFR 350.5 - What definitions apply?

Code of Federal Regulations, 2012 CFR

2012-07-01

... expected to require multiple vocational rehabilitation services over an extended period of time; and (iii..., hemiplegia, hemophilia, respiratory or pulmonary dysfunction, mental retardation, mental illness, multiple sclerosis, muscular dystrophy, musculoskeletal disorders, neurological disorders (including stroke and...

Winter is coming: nightmares and sleep problems during seasonal affective disorder.

PubMed

Sandman, Nils; Merikanto, Ilona; Määttänen, Hanna; Valli, Katja; Kronholm, Erkki; Laatikainen, Tiina; Partonen, Timo; Paunio, Tiina

2016-10-01

Sleep problems, especially nightmares and insomnia, often accompany depression. This study investigated how nightmares, symptoms of insomnia, chronotype and sleep duration associate with seasonal affective disorder, a special form of depression. Additionally, it was noted how latitude, a proxy for photoperiod, and characteristics of the place of residence affect the prevalence of seasonal affective disorder and sleep problems. To study these questions, data from FINRISK 2012 study were used. FINRISK 2012 consists of a random population sample of Finnish adults aged 25-74 years (n = 4905) collected during winter from Finnish urban and rural areas spanning the latitudes of 60°N to 66°N. The Seasonal Pattern Assessment Questionnaire was used to assess symptoms of seasonal affective disorder. Participants with symptoms of seasonal affective disorder had significantly increased odds of experiencing frequent nightmares and symptoms of insomnia, and they were more often evening chronotypes. Associations between latitude, population size and urbanicity with seasonal affective disorder symptoms and sleep disturbances were generally not significant, although participants living in areas bordering urban centres had less sleep problems than participants from other regions. These data show that the prevalence of seasonal affective disorder was not affected by latitude. © 2016 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.

Questionnaires that screen for multiple sleep disorders.

PubMed

Klingman, Karen J; Jungquist, Carla R; Perlis, Michael L

2017-04-01

The goal of this review was to identify, describe, and evaluate the existing multiple sleep disorders screening questionnaires for their comprehensiveness, brevity, and psychometric quality. A systematic review was conducted using Medline/PubMed, cumulative index to nursing & allied health literature, health and psychosocial instruments and the "grey literature". Search terms were "sleep disorders, screening, questionnaires, and psychometrics". The scope of the search was limited to English language articles for adult age groups from 1989 through 2015. Of the n = 2812 articles identified, most were assessment or treatment guideline reviews, topical reviews, and/or empirical articles. Seven of the articles described multiple sleep disorders screening instruments. Of the identified instruments, two questionnaires (the Holland sleep Disorders questionnaire and sleep-50) were evaluated as comprehensive and one questionnaire (the global sleep assessment questionnaire [GSAQ]) was judged to be both comprehensive and efficient. The GSAQ was found to cover four of the six core intrinsic disorders, sleep insufficiency, and daytime sequela with 11 questions. Accordingly, the GSAQ is the most suitable for application as a general sleep disorders screener. Additional work is required to validate this instrument in the context of primary care. Finally, the future development of multiple sleep disorders screening questionnaires should not only cover all six intrinsic sleep disorders but also acquire some basic demographic information (age, sex, body mass index, presence/absence of bed partner, work status and shift) and some limited data regarding sleep sufficiency and the daytime consequences of sleep disturbance. Copyright © 2016 Elsevier Ltd. All rights reserved.

Prefrontal and amygdala engagement during emotional reactivity and regulation in generalized anxiety disorder.

PubMed

Fitzgerald, Jacklynn M; Phan, K Luan; Kennedy, Amy E; Shankman, Stewart A; Langenecker, Scott A; Klumpp, Heide

2017-08-15

Emotion dysregulation is prominent in generalized anxiety disorder (GAD), characterized clinically by exaggerated reactivity to negative stimuli and difficulty in down-regulating this response. Although limited research implicates frontolimbic disturbances in GAD, whether neural aberrations occur during emotional reactivity, regulation, or both is not well understood. During functional magnetic resonance imaging (fMRI), 30 individuals with GAD and 30 healthy controls (HC) completed a well-validated explicit emotion regulation task designed to measure emotional reactivity and regulation of reactivity. During the task, participants viewed negative images ('Look-Negative' condition) and, on some trials, used a cognitive strategy to reduce negative affective response ('Reappraise' condition). Results from an Analysis of Variance corrected for whole brain multiple comparisons showed a significant group x condition interaction in the left amygdala and left inferior frontal gyrus (IFG). Results from post-hoc analyses showed that the GAD group engaged these regions to a greater extent than HCs during Look-Negative but not Reappraise. Behaviorally, the GAD group reported feeling more negative than the HC group in each condition, although both groups reported reduced negative affect following regulation. As comorbidity was permitted, the presence of concurrent disorders, like other anxiety disorders and depression, detracts our ability to classify neural engagement particular to GAD alone. Individuals with GAD exhibited over-engagement of amygdala and frontal regions during the viewing of negative images, compared to HCs. Together, these aberrations may indicate that deficits in emotional reactivity rather than regulation contribute to emotion dysregulation in those with GAD. Copyright © 2017. Published by Elsevier B.V.

Menstrual-Cycle and Menstruation Disorders in Episodic vs Chronic Migraine: An Exploratory Study.

PubMed

Spierings, Egilius L H; Padamsee, Aliya

2015-07-01

Migraine is a chronic condition of recurring moderate-to-severe headaches that affects an estimated 6% of men and 18% of women. The highest prevalence is in those 18-49 years of age, generally when women menstruate. It is divided into episodic and chronic migraine depending on the total number of headache days per month being 14 or less or 15 or more, respectively. Migraine has been associated with menorrhagia, dysmenorrhea, and endometriosis, the latter particularly in chronic migraine. We conducted a questionnaire survey of 96 women with migraine, 18-45 years old, to determine the occurrence of the menstrual-cycle disorders, oligomenorrhea, polymenorrhea, and irregular cycle, and the menstruation disorders, dysmenorrhea and menorrhagia, in episodic vs chronic migraine. The prevalence of menstrual-cycle disorders in general (41.2 vs 22.2%) and dysmenorrhea (51.0 vs 28.9%) was statistically significantly higher in the women with chronic migraine than in those with episodic migraine (P ≤ 0.05) (not corrected for multiple comparisons). Whether the migraine was menstruation sensitive, that is, the headaches consistently occurred or worsened with menstruation, did not impact the prevalence of menstrual disorders. We conclude that chronic migraine is possibly more often than episodic migraine associated with menstrual-cycle disorders in general and dysmenorrhea, without impact on menstruation sensitivity of the headaches. Wiley Periodicals, Inc.

A systematic review of associations between functional MRI activity and polygenic risk for schizophrenia and bipolar disorder.

PubMed

Dezhina, Zalina; Ranlund, Siri; Kyriakopoulos, Marinos; Williams, Steve C R; Dima, Danai

2018-05-10

Genetic factors account for up to 80% of the liability for schizophrenia (SCZ) and bipolar disorder (BD). Genome-wide association studies have successfully identified several genes associated with increased risk for both disorders. This has allowed researchers to model the aggregate effect of genes associated with disease status and create a polygenic risk score (PGRS) for each individual. The interest in imaging genetics using PGRS has grown in recent years, with several studies now published. We have conducted a systematic review to examine the effects of PGRS of SCZ, BD and cross psychiatric disorders on brain function and connectivity using fMRI data. Results indicate that the effect of genetic load for SCZ and BD on brain function affects task-related recruitment, with frontal areas having a more prominent role, independent of task. Additionally, the results suggest that the polygenic architecture of psychotic disorders is not regionally confined but impacts on the task-dependent recruitment of multiple brain regions. Future imaging genetics studies with large samples, especially population studies, would be uniquely informative in mapping the spatial distribution of the genetic risk to psychiatric disorders on brain processes during various cognitive tasks and may lead to the discovery of biological pathways that could be crucial in mediating the link between genetic factors and alterations in brain networks.

Current comorbidity among consecutive adolescent psychiatric outpatients with DSM-IV mood disorders.

PubMed

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

2006-06-01

To compare selected characteristics (age, sex, age of onset for depression, impairment, severity of depression, somatic comorbidity, and treatment status) of adolescents with currently comorbid and non-comorbid depression. A sample of 218 consecutive adolescent (13-19 years) psychiatric outpatients with depressive disorders, and 200 age- and sex-matched school-attending controls were interviewed for DSM-IV Axis I and Axis II diagnoses. Current comorbidity, most commonly with anxiety disorders, was equally frequent (>70%) in outpatients and depressed controls. Younger age (OR 0.20; 95% CI 0.08, 0.51) and male gender (OR 0.02; 95% CI 0.09, 0.55) were associated with concurrent disruptive disorders. Current comorbidity with substance use disorders (SUD) was independent of age (OR 1.13; 95% CI 0.51, 2.49) and sex (OR 0.51; 95% CI 0.22, 1.17). Personality disorders associated with older age (OR 2.06; 95% CI 1.10, 3.86). In multivariable logistic regression analysis, impairment (GAF

[Shame and social anxiety in anorexia and bulimia nervosa].

PubMed

Grabhorn, Ralph; Stenner, Hanna; Kaufbold, Johannes; Overbeck, Gerd; Stangier, Ullrich

2005-01-01

The importance of shame for the understanding of eating disorders has been well-known for a long time, but only few empirical studies exist to date on this aspect. Particularly the sense of self-esteem and external appearance have been attributed a major influence in the emergence of shame. Since social anxiety has increasingly been considered to be a factor in recent discussions related to eating disorders, and shame is a primary symptom of social phobia and of social anxiety in general, the present study focuses on shame and social anxiety in anorexia and bulimia, as compared to other clinical disorders. Another research question is the extent to which the prevalence of shame in eating disorders is influenced by self-esteem, attitudes about appearance and social anxiety. The sample consists of 104 (female) patients, comprising 26 patients, respectively, with anorexia nervosa, bulimia nervosa, anxiety disorders and depression. The various variables were recorded with the Internalized Shame Scale (ISS), the Social Interaction Anxiety Scale (SIAS), the Social Phobia Scale (SPS), the Appearance Attitude Scale (AAS) and the Social Autonomous Self-Esteem Scale (SAS). Patients with anorexia and bulimia nervosa have higher scores in internalized global shame than patients with anxiety disorders and depressions. In contrast to anorectic patients, however, patients with bulimia also have higher scores than the other two groups in the area of social performance anxiety; they also differ significantly from the anxiety disorders in terms of interaction anxiety. In the multiple regression analysis of the patients with eating disorders, self-esteem, performance anxiety and perfectionism with regard to appearance prove to be predictors of the affect of shame. The findings indicate that not just shame, but also social anxiety, should be regarded as important influencing factors, especially in the case of bulimia nervosa. The question remains as to what extent social anxiety is a result of shame being projected onto the body. For therapeutic considerations, it seems advisable to work on the affect of shame and also include the aspect of social anxiety in focused therapy strategies.

Characteristics of students participating in Collegiate Recovery Programs: A national survey

PubMed Central

Laudet, Alexandre B.; Harris, Kitty; Kimball, Thomas; Winters, Ken C.; Moberg, D. Paul

2014-01-01

Relapse rates are high among individuals with substance use disorders (SUD), and for young people pursuing a college education, the high rates of substance use on campus can jeopardize recovery. Collegiate Recovery Programs (CRPs) are an innovative campus-based model of recovery support that is gaining popularity but remains under-investigated. This study reports on the first nationwide survey of CRP-enrolled students (N = 486 from 29 different CRPs). Using an online survey, we collected information on background, SUD and recovery history, and current functioning. Most students (43% females, mean age = 26) had used multiple substances, had high levels of SUD severity, high rates of treatment and 12-step participation. Fully 40% smoke. Many reported criminal justice involvement and periods of homelessness. Notably, many reported being in recovery from, and currently engaging in multiple behavioral addictions-e.g., eating disorders, and sex and love addiction. Findings highlight the high rates of co-occurring addictions in this under-examined population and underline the need for treatment, recovery support programs and college health services to provide integrated support for mental health and behavioral addictions to SUD-affected young people. PMID:25481690

Determinants of compliance with nasal continuous positive airway pressure treatment applied in a community setting.

PubMed

Ball, E M.; Banks, M B.

2001-05-01

Objectives: To assess determinants of nasal continuous positive airway pressure (CPAP) compliance when applied in a community setting.Background: One-third of obstructive sleep apnea patients eventually refuse CPAP therapy. Treatment outcomes may be improved by identifying predictors of CPAP failure, including whether management by primary care physicians without sleep consultation affects results.Methods: Polysomnogram, chart review, and questionnaire results for regular CPAP users (n=123) were compared with those returning the CPAP machine (n=26).Results: Polysomnographic data and the presence of multiple sleep disorders were only modestly predictive of CPAP compliance. Striking differences in questionnaire responses separated CPAP users from non-users, who reported less satisfaction with all phases of their diagnosis and management. Rates of CPAP use were not significantly different between patients managed solely by their primary care physician or by a sleep consultant.Conclusions: Polysomnographic findings are unlikely to identify eventual CPAP non-compliers in a cost-effective fashion. Improvements in sleep apnea management may result from addressing the role of personality factors and multiple sleep disorders in determining compliance. In this practice setting, management by primary care physicians did not significantly degrade CPAP compliance.

The expanding universe of neurotrophic factors: therapeutic potential in aging and age-associated disorders.

PubMed

Lanni, C; Stanga, S; Racchi, M; Govoni, S

2010-01-01

Multiple molecular, cellular, structural and functional changes occur in the brain during aging. Neural cells may respond to these changes adaptively by employing multiple mechanisms in order to maintain the integrity of nerve cell circuits and to facilitate responses to environmental demands. Otherwise, they may succumb to neurodegenerative cascades that result in disorders such as Alzheimer's and Parkinson's diseases. An important role in this balancement is played by neurotrophic factors, which are central to many aspects of nervous system function since they regulate the development, maintenance and survival of neurons and neuron-supporting cells such as glia and oligodendrocytes. A vast amount of evidence indicates that alterations in levels of neurotrophic factors or their receptors can lead to neuronal death and contribute to aging as well as to the pathogenesis of diseases of abnormal trophic support (such as neurodegenerative diseases and depression) and diseases of abnormal excitability (such as epilepsy and central pain sensitization). Cellular and molecular mechanisms by which neurotrophic factors may influence cell survival and excitability are also critically examined to provide novel concepts and targets for the treatment of physiological changes bearing detrimental functional alterations and of different diseases affecting the central nervous system during aging.

The specificity of childhood adversities and negative life events across the life span to anxiety and depressive disorders.

PubMed

Spinhoven, Philip; Elzinga, Bernet M; Hovens, Jacqueline G F M; Roelofs, Karin; Zitman, Frans G; van Oppen, Patricia; Penninx, Brenda W J H

2010-10-01

Although several studies have shown that life adversities play an important role in the etiology and maintenance of both depressive and anxiety disorders, little is known about the relative specificity of several types of life adversities to different forms of depressive and anxiety disorder and the concurrent role of neuroticism. Few studies have investigated whether clustering of life adversities or comorbidity of psychiatric disorders critically influence these relationships. Using data from the Netherlands Study of Depression and Anxiety (NESDA), we analyzed the association of childhood adversities and negative life experiences across the lifespan with lifetime DSM-IV-based diagnoses of depression or anxiety among 2288 participants with at least one affective disorder. Controlling for comorbidity and clustering of adversities the association of childhood adversity with affective disorders was greater than that of negative life events across the life span with affective disorders. Among childhood adversities, emotional neglect was specifically associated with depressive disorder, dysthymia, and social phobia. Persons with a history of emotional neglect and sexual abuse were more likely to develop more than one lifetime affective disorder. Neuroticism and current affective disorder did not affect the adversity-disorder relationships found. Using a retrospective study design, causal interpretations of the relationships found are not warranted. Emotional neglect seems to be differentially related to depression, dysthymia and social phobia. This knowledge may help to reduce underestimation of the impact of emotional abuse and lead to better recognition and treatment to prevent long-term disorders. Copyright 2010 Elsevier B.V. All rights reserved.

Phenomenology and family history of affective disorder in Cushing's disease.

PubMed

Hudson, J I; Hudson, M S; Griffing, G T; Melby, J C; Pope, H G

1987-07-01

Of 16 patients with Cushing's disease, 13 (81%) had lifetime diagnoses of major affective disorder according to DSM-III criteria. However, the rate of familial major affective disorder among these patients was significantly lower than that found among patients with major depression.

Examination of Predictors and Moderators for Self-help Treatments of Binge Eating Disorder

PubMed Central

Masheb, Robin M.; Grilo, Carlos M.

2008-01-01

Predictors and moderators of outcomes were examined in 75 overweight patients with binge eating disorder (BED) who participated in a randomized clinical trial of guided self-help treatments. Age variables, psychiatric and personality disorder comorbidity and clinical characteristics were tested as predictors and moderators of treatment outcomes. Current age and age of BED onset did not predict outcomes. Key dimensional outcomes (binge frequency, eating psychopathology, and negative affect) were predominately predicted, but not moderated, by their respective pretreatment levels. Presence of personality disorders, particularly Cluster C, predicted both post-treatment negative affect and eating disorder psychopathology. Negative affect, but not major depressive disorder, predicted attrition, and post-treatment negative affect and eating disorder psychopathology. Despite the prognostic significance of these findings for dimensional outcomes, none of the variables tested were predictive of binge remission (i.e., a categorical outcome). No moderator effects were found. The present study found poorer prognosis for patients with negative affect and personality disorders suggesting that treatment outcomes may be enhanced by attending to the cognitive and personality styles of these patients. PMID:18837607

[Systemic lupus erythematosus and pregnancy].

PubMed

Basheva, S; Nikolov, A; Stoilov, R; Stoilov, N

2012-01-01

Connective-tissue disorders, also referred to as collagen-vascular disorders, are characterized by autoantibody-mediated connective-tissue abnormalities. These are also called immune-complex diseases because many involve deposition of immune complexes in specific organ or tissue sites. Some of these disorders are characterized by sterile inflammation, especially of the skin, joints, blood vessels, and kidneys, and are referred to as rheumatic diseases. For inexplicable reasons, many rheumatic diseases primarily affect women. Another major category of connective-tissue diseases includes inherited disorders of bone, skin, cartilage, blood vessels. Examples include Marfan syndrome, osteogenesis imperfecta, and Ehlers-Danlos syndrome. Lupus erythematosus (LE) is the main and most important disease in the group of systemic connective tissue diseases. It is heterogeneous, multiple organs autoimmune inflammatory disease with complex pathogenesis, which is the result of interaction between the susceptible genes and environmental factors that lead to abnormal immune response. In this review will consider: its incidence, pathogenesis, clinical forms and clinical features and diagnosis set based on generally accepted clinical criteria developed by the American College of Rheumatology (ACR), the course of pregnancy in patients suffering from LE, the most common complications of LE during pregnancy and antiphospholipid syndrome as part of LE.

Personality disorders and perceived stress in Major Depressive Disorder

PubMed Central

Candrian, Michele; Schwartz, Faye; Farabaugh, Amy; Perlis, Roy H.; Ehlert, Ulrike; Fava, Maurizio

2008-01-01

The investigation of comorbidity between major depressive disorder (MDD) and personality disorders (PDs) has attracted considerable interest. Whereas some studies found that the presence of PDs has adverse effects on the course and treatment of MDD, others have failed to demonstrate this link. These inconsistent findings suggest that specific PD comorbidity might affect the course of MDD by modulating factors that increase the overall risk of depression, including an elevated tendency to perceive stress. To investigate whether the presence of a specific PD cluster was associated with elevated levels of stress appraisal, we administered the Perceived Stress Scale (PSS) before and after treatment to 227 MDD outpatients enrolled in an 8-week open-label treatment with fluoxetine. Following treatment, multiple linear regression analyses revealed that the presence of Cluster A, but not Cluster B or C, was associated with higher levels of perceived stress, even after adjusting for baseline depression severity and PSS scores, as well as various sociodemographic variables. The presence of Cluster A PD comorbidity was uniquely associated with elevated stress appraisal after antidepressant treatment, raising the possibility that stress exacerbation might be an important factor linked to poor treatment outcome in MDD subjects with Cluster A pathology. PMID:18573540

Treatment of Comorbid Attention-Deficit/Hyperactivity Disorder and Anxiety in Children : A Multiple Baseline Design Analysis

ERIC Educational Resources Information Center

Jarrett, Matthew A.; Ollendick, Thomas H.

2012-01-01

Objective: The present study evaluated a 10-week psychosocial treatment designed specifically for children with attention-deficit/hyperactivity disorder (ADHD) and a comorbid anxiety disorder. Method: Using a nonconcurrent multiple baseline design, the authors treated 8 children ages 8-12 with ADHD, combined type, and at least 1 of 3 major anxiety…

No association between serum cholesterol and death by suicide in patients with schizophrenia, bipolar affective disorder, or major depressive disorder

PubMed Central

2013-01-01

Background Previous research on serum total cholesterol and suicidality has yielded conflicting results. Several studies have reported a link between low serum total cholesterol and suicidality, whereas others have failed to replicate these findings, particularly in patients with major affective disorders. These discordant findings may reflect the fact that studies often do not distinguish between patients with bipolar and unipolar depression; moreover, definitions and classification schemes for suicide attempts in the literature vary widely. Methods Subjects were patients with one of the three major psychiatric disorders commonly associated with suicide: schizophrenia, bipolar affective disorder, and major depressive disorder (MDD). We compared serum lipid levels in patients who died by suicide (82 schizophrenia, 23 bipolar affective disorder, and 67 MDD) and non-suicide controls (200 schizophrenia, 49 bipolar affective disorder, and 175 MDD). Results Serum lipid profiles did not differ between patients who died by suicide and control patients in any diagnostic group. Conclusions Our results do not support the use of biological indicators such as serum total cholesterol to predict suicide risk among patients with a major psychiatric disorder. PMID:24308827

Increased sensitivity to positive social stimuli in monozygotic twins at risk of bipolar vs. unipolar disorder.

PubMed

Kærsgaard, S; Meluken, I; Kessing, L V; Vinberg, M; Miskowiak, K W

2018-05-01

Abnormalities in affective cognition are putative endophenotypes for bipolar and unipolar disorders but it is unclear whether some abnormalities are disorder-specific. We therefore investigated affective cognition in monozygotic twins at familial risk of bipolar disorder relative to those at risk of unipolar disorder and to low-risk twins. Seventy monozygotic twins with a co-twin history of bipolar disorder (n = 11), of unipolar disorder (n = 38) or without co-twin history of affective disorder (n = 21) were included. Variables of interest were recognition of and vigilance to emotional faces, emotional reactivity and -regulation in social scenarios and non-affective cognition. Twins at familial risk of bipolar disorder showed increased recognition of low to moderate intensity of happy facial expressions relative to both unipolar disorder high-risk twins and low-risk twins. Bipolar disorder high-risk twins also displayed supraliminal attentional avoidance of happy faces compared with unipolar disorder high-risk twins and greater emotional reactivity in positive and neutral social scenarios and less reactivity in negative social scenarios than low-risk twins. In contrast with our hypothesis, there was no negative bias in unipolar disorder high-risk twins. There were no differences between the groups in demographic characteristics or non-affective cognition. The modest sample size limited the statistical power of the study. Increased sensitivity and reactivity to positive social stimuli may be a neurocognitive endophenotype that is specific for bipolar disorder. If replicated in larger samples, this 'positive endophenotype' could potentially aid future diagnostic differentiation between unipolar and bipolar disorder. Copyright © 2018 Elsevier B.V. All rights reserved.

A preliminary examination of self-concept in older adolescents and young adults with Gilles de la Tourette syndrome.

PubMed

Silvestri, Paola R; Chiarotti, Flavia; Baglioni, Valentina; Neri, Valeria; Cardona, Francesco; Cavanna, Andrea E

2017-05-01

Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterised by multiple tics and often associated with behavioural problems. Although there is evidence of significantly reduced self-esteem in children and adolescents with GTS, little is known about perceived self-concept and its clinical determinants at the transition age between adolescence and adulthood. We therefore set out to investigate self-concept in a clinical sample of young patients with GTS at this crucial age for personal development. In addition to standard demographic and clinical data, we collected self-ratings using a standardised battery of psychometric instruments, as well as the Multidimensional Self Concept Scale, a comprehensive questionnaire developed to assess self-concept in subjects aged 9- to 19 years, tapping into the social, competence, affect, academic, family, and physical domains. We found that patients diagnosed with at least one co-morbid psychiatric disorder ("GTS-plus" phenotype) reported significantly lower self-concept than patients with "pure GTS", whereas tic-related variables had no impact on self-concept. Anxiety symptoms were the main determinants of self-concept, especially trait anxiety with regard to social and affective domains. Affective symptoms could also have a negative impact on the physical, affective, competence, and social domains of self-concept. Routine screening for anxiety and affective symptoms should be recommended in all patients with GTS seen at transition clinics from paediatric to adult care, in order to implement effective treatment interventions whenever possible. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

PubMed Central

Musumeci, Olimpia; Caporali, Leonardo; Zanna, Claudia; La Morgia, Chiara; Del Dotto, Valentina; Porcelli, Anna Maria; Rugolo, Michela; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Barboni, Piero; Carbonelli, Michele; Trombetta, Costantino; Valente, Enza Maria; Patergnani, Simone; Giorgi, Carlotta; Pinton, Paolo; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Avoni, Patrizia; Liguori, Rocco; Baruzzi, Agostino; Toscano, Antonio; Zeviani, Massimo

2015-01-01

Objective Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutations in the mitochondrial fusion genes OPA1 and MFN2 in the pathogenesis of multisystem syndromes characterized by neurodegeneration and accumulation of mtDNA multiple deletions in postmitotic tissues. Here, we report 2 Italian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and dementia. Methods Patients were extensively studied by optical coherence tomography (OCT) to assess retinal nerve fibers, and underwent muscle and brain magnetic resonance spectroscopy (MRS), and muscle biopsy and fibroblasts were analyzed. Candidate genes were sequenced, and mtDNA was analyzed for rearrangements. Results Affected individuals displayed a slowly progressive syndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinsonism, and/or cognitive impairment, in most cases without visual complains, but with subclinical loss of retinal nerve fibers at OCT. Muscle biopsies showed cytochrome c oxidase‐negative fibers and mtDNA multiple deletions, and MRS displayed defective oxidative metabolism in muscle and brain. We found 2 heterozygous OPA1 missense mutations affecting highly conserved amino acid positions (p.G488R, p.A495V) in the guanosine triphosphatase domain, each segregating with affected individuals. Fibroblast studies showed a reduced amount of OPA1 protein with normal mRNA expression, fragmented mitochondria, impaired bioenergetics, increased autophagy and mitophagy. Interpretation The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism. Ann Neurol 2015;78:21–38 PMID:25820230

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

Developmental Trajectories of Positive and Negative Affect in Children at High and Low Familial Risk for Depressive Disorder

ERIC Educational Resources Information Center

Olino, Thomas M.; Lopez-Duran, Nestor L.; Kovacs, Maria; George, Charles J.; Gentzler, Amy L.; Shaw, Daniel S.

2011-01-01

Background: Although low positive affect (PA) and high negative affect (NA) have been posited to predispose to depressive disorders, little is known about the developmental trajectories of these affects in children at familial risk for mood disorders. Methods: We examined 202 offspring of mothers who had a history of juvenile-onset unipolar…

Affective bias and current, past and future adolescent depression: a familial high risk study.

PubMed

Kilford, Emma J; Foulkes, Lucy; Potter, Robert; Collishaw, Stephan; Thapar, Anita; Rice, Frances

2015-03-15

Affective bias is a common feature of depressive disorder. However, a lack of longitudinal studies means that the temporal relationship between affective bias and depression is not well understood. One group where studies of affective bias may be particularly warranted is the adolescent offspring of depressed parents, given observations of high rates of depression and a severe and impairing course of disorder in this group. A two wave panel design was used in which adolescent offspring of parents with recurrent depression completed a behavioural task assessing affective bias (The Affective Go/No Go Task) and a psychiatric interview. The affective processing of adolescents with current, prior and future depressive disorder was compared to that of adolescents free from disorder. Adolescents with current depression and those who developed depression at follow-up made more commission errors for sad than happy targets compared to adolescents free from disorder. There was no effect of prior depression on later affective processing. Small cell sizes meant we were unable to separately compare those with new onset and recurrent depressive disorder. Valence-specific errors in behavioural inhibition index future vulnerability to depression in adolescents already at increased risk and may represent a measure of affective control. Currently depressed adolescents show a similar pattern of affective bias or deficits in affective control. Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.

Affective bias and current, past and future adolescent depression: A familial high risk study

PubMed Central

Kilford, Emma J.; Foulkes, Lucy; Potter, Robert; Collishaw, Stephan; Thapar, Anita; Rice, Frances

2015-01-01

Background Affective bias is a common feature of depressive disorder. However, a lack of longitudinal studies means that the temporal relationship between affective bias and depression is not well understood. One group where studies of affective bias may be particularly warranted is the adolescent offspring of depressed parents, given observations of high rates of depression and a severe and impairing course of disorder in this group. Methods A two wave panel design was used in which adolescent offspring of parents with recurrent depression completed a behavioural task assessing affective bias (The Affective Go/No Go Task) and a psychiatric interview. The affective processing of adolescents with current, prior and future depressive disorder was compared to that of adolescents free from disorder. Results Adolescents with current depression and those who developed depression at follow-up made more commission errors for sad than happy targets compared to adolescents free from disorder. There was no effect of prior depression on later affective processing. Limitations Small cell sizes meant we were unable to separately compare those with new onset and recurrent depressive disorder. Conclusions Valence-specific errors in behavioural inhibition index future vulnerability to depression in adolescents already at increased risk and may represent a measure of affective control. Currently depressed adolescents show a similar pattern of affective bias or deficits in affective control. PMID:25527997

Spasticity Management in Disorders of Consciousness

PubMed Central

Laureys, Steven

2017-01-01

Background: Spasticity is a motor disorder frequently encountered after a lesion involving the central nervous system. It is hypothesized to arise from an anarchic reorganization of the pyramidal and parapyramidal fibers and leads to hypertonia and hyperreflexia of the affected muscular groups. While this symptom and its management is well-known in patients suffering from stroke, multiple sclerosis or spinal cord lesion, little is known regarding its appropriate management in patients presenting disorders of consciousness after brain damage. Objectives: Our aim was to review the occurrence of spasticity in patients with disorders of consciousness and the therapeutic interventions used to treat it. Methods: We conducted a systematic review using the PubMed online database. It returned 157 articles. After applying our inclusion criteria (i.e., studies about patients in coma, unresponsive wakefulness syndrome or minimally conscious state, with spasticity objectively reported as a primary or secondary outcome), 18 studies were fully reviewed. Results: The prevalence of spasticity in patients with disorders of consciousness ranged from 59% to 89%. Current treatment options include intrathecal baclofen and soft splints. Several treatment options still need further investigation; including acupuncture, botulin toxin or cortical activation by thalamic stimulation. Conclusion: The small number of articles available in the current literature highlights that spasticity is poorly studied in patients with disorders of consciousness although it is one of the most common motor disorders. While treatments such as intrathecal baclofen and soft splints seem effective, large randomized controlled trials have to be done and new therapeutic options should be explored. PMID:29232836

A trend toward smaller optical angles and medial-ocular distance in schizophrenia spectrum, but not in bipolar and major depressive disorders.

PubMed

Wang, Yi; Deng, Yi; Li, Zhi; Li, Xu; Zhang, Chen-Yuan; Jin, Zhen; Fan, Ming-Xia; Compton, Michael T; Cheung, Eric F C; Lim, Kelvin O; Chan, Raymond C K

2016-12-01

Minor physical anomalies (MPAs) are subtle signs of fetal developmental abnormalities that have been considered to be among the most replicated risk markers for schizophrenia-spectrum disorders. However, quantitative approaches are needed to measure craniofacial MPAs. The present study adopted an imaging-based quantitative approach to examine craniofacial MPAs across the spectrum of schizophrenia and affective disorders, to address their sensitivity and specificity. We sampled 31 patients with schizophrenia, 30 of their unaffected relatives, and 30 individuals with schizotypal personality traits, as well as 37 non-schizotypal controls. We also examined 17 patients with bipolar disorder and 19 patients with major depressive disorder. Five craniofacial MPAs were measured on anterior-posterior commissure-aligned T1-weighted images of an individual's native brain space: medial-ocular distance, lateral-ocular distance, optical angle, maximum skull length, and skull-base width. Compared to non-schizotypal controls, patients with schizophrenia and their relatives showed a trend toward having smaller optical angles and medial-ocular distance, while no difference was found in patients with bipolar or major depressive disorders, suggesting some degree of specificity to schizophrenia. Our approach may benefit future research on craniofacial MPAs as risk markers for schizophrenia-spectrum disorders, and may eventually be useful in strategies to enhance risk stratification using multiple risk markers. © 2016 The Institute of Psychology, Chinese Academy of Sciences and John Wiley & Sons Australia, Ltd.

Posttraumatic stress disorder: a serious post-earthquake complication.

PubMed

Farooqui, Mudassir; Quadri, Syed A; Suriya, Sajid S; Khan, Muhammad Adnan; Ovais, Muhammad; Sohail, Zohaib; Shoaib, Samra; Tohid, Hassaan; Hassan, Muhammad

2017-01-01

Earthquakes are unpredictable and devastating natural disasters. They can cause massive destruction and loss of life and survivors may suffer psychological symptoms of severe intensity. Our goal in this article is to review studies published in the last 20 years to compile what is known about posttraumatic stress disorder (PTSD) occurring after earthquakes. The review also describes other psychiatric complications that can be associated with earthquakes, to provide readers with better overall understanding, and discusses several sociodemographic factors that can be associated with post-earthquake PTSD. A search for literature was conducted on major databases such as MEDLINE, PubMed, EMBASE, and PsycINFO and in neurology and psychiatry journals, and many other medical journals. Terms used for electronic searches included, but were not limited to, posttraumatic stress disorder (PTSD), posttraumatic symptoms, anxiety, depression, major depressive disorder, earthquake, and natural disaster. The relevant information was then utilized to determine the relationships between earthquakes and posttraumatic stress symptoms. It was found that PTSD is the most commonly occurring mental health condition among earthquake survivors. Major depressive disorder, generalized anxiety disorder, obsessive compulsive disorder, social phobia, and specific phobias were also listed. The PTSD prevalence rate varied widely. It was dependent on multiple risk factors in target populations and also on the interval of time that had elapsed between the exposure to the deadly incident and measurement. Females seemed to be the most widely-affected group, while elderly people and young children exhibit considerable psychosocial impact.

Impulse control disorders are associated with multiple psychiatric symptoms in Parkinson's disease.

PubMed

Jaakkola, Elina; Kaasinen, Valtteri; Siri, Chiara; Martikainen, Kirsti; Cilia, Roberto; Niemelä, Solja; Joutsa, Juho

2014-01-01

Impulse control disorders can have serious adverse consequences to the life of a patient with Parkinson's disease. Although impulse control disorders are common, a possible psychiatric comorbidity has not been fully characterized. The aim of this study was to investigate the psychiatric symptoms exhibited by Parkinson's disease patients with impulse control disorders. The study was conducted as a postal survey to patients in the registry of the Finnish Parkinson Association. A total of 290 Parkinson's disease patients were evaluated for impulse control disorders using the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease. Psychiatric symptoms were systematically screened using the Symptom Checklist 90. We found that 108 of the evaluated patients had one or more impulse control disorders. Patients with impulse control disorders had markedly higher scores for symptoms of psychoticism (Bonferroni corrected p < 0.001), interpersonal sensitivity (p < 0.001), obsessive-compulsive disorder (p < 0.001), and depression (p = 0.01) when compared with patients without impulse control disorders. Impulse control disorders were shown to be independently associated with these symptoms. Patients with multiple impulse control disorders had higher scores for depression and obsessive-compulsive symptoms when compared with patients that exhibited only one impulse control disorder. COUNCLUSIONS: Our results confirm the previous observations that impulse control disorders in Parkinson's disease are linked with multiple psychiatric symptoms, including psychoticism, interpersonal sensitivity, obsessive-compulsive symptoms and depression. Clinicians treating these patients should acknowledge the concomitant psychiatric symptoms.

Self-Mutilation. ERIC/CASS Digest.

ERIC Educational Resources Information Center

Simpson, Chris

Self-mutilation has been most commonly seen as a diagnostic indicator for borderline personality disorder. However, practitioners have more recently observed self-harming behavior among those individuals diagnosed with bipolar disorder, obsessive-compulsive disorder, eating disorders, multiple personality disorder, borderline personality disorder,…

Pervasive Developmental Disorders: Distinguishing among Subtypes.

ERIC Educational Resources Information Center

Harris, Sandra L.; Glasberg, Beth; Ricca, Donna

1996-01-01

Describes pervasive developmental disorders (PPDs), which are severe conditions that begin in early life and influence multiple areas of development. Conditions include autistic disorders, Asperger's disorder, Rett's disorder, childhood disintegrative disorder, and PPDs "not otherwise specified." Intensive behavioral intervention at an early age…

Microvascular decompression for trigeminal neuralgia: comments on a series of 250 cases, including 10 patients with multiple sclerosis.

PubMed

Broggi, G; Ferroli, P; Franzini, A; Servello, D; Dones, I

2000-01-01

To examine surgical findings and results of microvascular decompression (MVD) for trigeminal neuralgia (TN), including patients with multiple sclerosis, to bring new insight about the role of microvascular compression in the pathogenesis of the disorder and the role of MVD in its treatment. Between 1990 and 1998, 250 patients affected by trigeminal neuralgia underwent MVD in the Department of Neurosurgery of the "Istituto Nazionale Neurologico C Besta" in Milan. Limiting the review to the period 1991-6, to exclude the "learning period" (the first 50 cases) and patients with less than 1 year follow up, surgical findings and results were critically analysed in 148 consecutive cases, including 10 patients with multiple sclerosis. Vascular compression of the trigeminal nerve was found in all cases. The recurrence rate was 15.3% (follow up 1-7 years, mean 38 months). In five of 10 patients with multiple sclerosis an excellent result was achieved (follow up 12-39 months, mean 24 months). Patients with TN for more than 84 months did significantly worse than those with a shorter history (p<0.05). There was no mortality and most complications occurred in the learning period. Surgical complications were not related to age of the patients. Aetiopathogenesis of trigeminal neuralgia remains a mystery. These findings suggest a common neuromodulatory role of microvascular compression in both patients with or without multiple sclerosis rather than a direct causal role. MVD was found to be a safe and effective procedure to relieve typical TN in patients of all ages. It should be proposed as first choice surgery to all patients affected by TN, even in selected cases with multiple sclerosis, to give them the opportunity of pain relief without sensory deficits.

Microvascular decompression for trigeminal neuralgia: comments on a series of 250 cases, including 10 patients with multiple sclerosis

PubMed Central

Broggi, G.; Ferroli, P.; Franzini, A.; Servello, D.; Dones, I.

2000-01-01

OBJECTIVE—To examine surgical findings and results of microvascular decompression (MVD) for trigeminal neuralgia (TN), including patients with multiple sclerosis, to bring new insight about the role of microvascular compression in the pathogenesis of the disorder and the role of MVD in its treatment.
METHODS—Between 1990 and 1998, 250 patients affected by trigeminal neuralgia underwent MVD in the Department of Neurosurgery of the "Istituto Nazionale Neurologico C Besta" in Milan. Limiting the review to the period 1991-6, to exclude the "learning period" (the first 50 cases) and patients with less than 1 year follow up, surgical findings and results were critically analysed in 148 consecutive cases, including 10 patients with multiple sclerosis.
RESULTS—Vascular compression of the trigeminal nerve was found in all cases. The recurrence rate was 15.3% (follow up 1-7 years, mean 38 months). In five of 10 patients with multiple sclerosis an excellent result was achieved (follow up 12-39 months, mean 24months). Patients with TN for more than 84 months did significantly worse than those with a shorter history (p<0.05). There was no mortality and most complications occurred in the learning period. Surgical complications were not related to age of the patients.
CONCLUSIONS—Aetiopathogenesis of trigeminal neuralgia remains a mystery. These findings suggest a common neuromodulatory role of microvascular compression in both patients with or without multiple sclerosis rather than a direct causal role. MVD was found to be a safe and effective procedure to relieve typical TN in patients of all ages. It should be proposed as first choice surgery to all patients affected by TN, even in selected cases with multiple sclerosis, to give them the opportunity of pain relief without sensory deficits. 

 PMID:10601403

Sleep disturbance as a proximal predictor of suicidal intent in recently hospitalized attempters.

PubMed

Ferentinos, Panagiotis; Porichi, Evgenia; Christodoulou, Christos; Dikeos, Dimitris; Papageorgiou, Charalambos; Douzenis, Athanassios

2016-03-01

Insomnia and short self-reported sleep duration are associated with suicidality, adjusting for concurrent depression. Yet, it is unknown whether they correlate with attempters' suicidal intent and the lethality of suicidal acts. This cross-sectional study in hospitalized suicide attempters aimed to investigate whether temporally proximal self-reported sleep disturbance predicts suicidal intent or exerts mediatory effects. Attempters were retrospectively assessed for insomnia severity (Athens Insomnia Scale [AIS]) and average night sleep duration (ANSD) for 2 weeks preceding attempt. The effects of insomnia or ANSD on suicidal intent (Beck's Suicide Intent Scale [BSIS]) were explored in multiple regressions. Mediatory effects were investigated in structural equation models (SEMs). A total of 127 adults (59.8% females) were interviewed within two weeks post-suicide attempt. Major psychiatric diagnoses included affective, psychotic, and alcohol-related disorders. Of the participants, 38.6% had current major depression (MDE). A total of 62.2% reported insomnia (AIS ≥ 6); 42.5% reported short ANSD (≤5 hours). BSIS was predicted by AIS (p = 0.034), short ANSD (p = 0.015), or insomnia with short ANSD (p = 0.006). In SEMs, indirect effects of current MDE, affective disorder, and alcohol-related disorder diagnoses on BSIS via AIS tested significant; both AIS and short ANSD partially mediated the effect of age on BSIS. Insomnia, short ANSD, and, in particular, insomnia with short ANSD proximally predicted suicidal intent in recent attempters. The effects of current depression and affective and alcohol-related disorder diagnoses on suicidal intent were partially mediated by insomnia; both insomnia and short ANSD partially mediated the effect of age on suicidal intent. Therefore, management of sleep disturbance in at-risk subjects is important, as it may reduce unfavorable outcomes of suicidal acts. Copyright © 2015 Elsevier B.V. All rights reserved.

Temperament and parenting predicting anxiety change in cognitive behavioral therapy: the role of mothers, fathers, and children.

PubMed

Festen, Helma; Hartman, Catharina A; Hogendoorn, Sanne; de Haan, Else; Prins, Pier J M; Reichart, Catrien G; Moorlag, Harma; Nauta, Maaike H

2013-04-01

A considerable amount of children with anxiety disorders do not benefit sufficiently from cognitive behavioral treatment. The present study examines the predictive role of child temperament, parent temperament and parenting style in the context of treatment outcome. Participants were 145 children and adolescents (ages 8-18) with DSM-IV-TR anxiety disorders who received a 12-session CBT program and were assessed at pretreatment, posttreatment and three months follow-up. Multiple-regression analyses were used to evaluate the following pretreatment and posttreatment variables as potential predictors of treatment response at follow-up: baseline level of anxiety symptoms, child reported maternal and paternal rearing style (emotional warmth, rejection, and overprotection), parent reported child temperament traits (negative affect, effortful control, and extraversion), and mothers' and fathers' self-report temperament traits. More maternal negative affect and less emotional warmth as perceived by the child before treatment were related to less favorable treatment outcome (accounting for 29% of the variance in anxiety at follow-up). Furthermore, maternal negative affect and children's extraversion measured after treatment also predicted anxiety at follow-up (together accounting for 19% of the variance). Paternal temperament and parenting style were unrelated to treatment outcome, as were children's pretreatment temperament traits. The results suggest that tailoring intervention to include strategies to reduce maternal negative affect and promote an emotional warm rearing style may improve treatment outcome. Copyright © 2013 Elsevier Ltd. All rights reserved.

Seasonality of hospital admissions and birth dates among inpatients with eating disorders: a nationwide population-based retrospective study.

PubMed

Liang, Chih-Sung; Chung, Chi-Hsiang; Tsai, Chia-Kuang; Chien, Wu-Chien

2018-04-01

Seasonal variation exists in the psychopathology of eating disorders. However, it is still unknown whether there is seasonal variation in eating disorder symptom severity. This study investigated seasonal trends in hospital admissions and birth dates among patients with eating disorders in Taiwan (25°N). Subgroup analyses by gender and comorbid affective disorders were also of interest. Data on all hospital admissions between 2000 and 2013 were collected from the Taiwan National Health Insurance Research Database, and 1954 patients with eating disorders were identified. Hospital admissions and birth dates were recorded by day. The four seasons and cross-seasons were defined by solstices and equinoxes. The expected distribution of births was determined using data from all patients hospitalized from 2000 to 2013 (n = 13,139,306). Hospital admissions among patients with eating disorders exceeded the rate of expected hospital admissions in the summer season (p < 0.001) and the autumn cross-season (p < 0.001). However, the seasonal (p = 0.421) and cross-seasonal (p = 0.24) distributions of birth dates among these patients did not differ from the expected distributions. Interestingly, hospital admissions among patients with comorbid affective disorders exceeded the rates of hospital admissions among non-affective patients during the spring (p = 0.004). Moreover, the number of non-affective patients born during autumn exceeded the birth rates of affective patients during this season (p = 0.001). Gender and comorbid affective disorders were not associated with cross-seasonal differences in either hospitalizations or dates of birth. Affective psychopathology in inpatients with eating disorders may substantially contribute to symptom severity that waxes and wanes with the seasons. Moreover, the seasonal distribution of birth dates was significantly different in patients without comorbid affective disorders.

Antisocial personality disorder and anxiety disorder: a diagnostic variant?

PubMed

Coid, Jeremy; Ullrich, Simone

2010-06-01

Antisocial personality disorder (ASPD) with co-morbid anxiety disorder may be a variant of ASPD with different etiology and treatment requirements. We investigated diagnostic co-morbidity, ASPD criteria, and anxiety/affective symptoms of ASPD/anxiety disorder. Weighted analyses were carried out using survey data from a representative British household sample. ASPD/anxiety disorder demonstrated differing patterns of antisocial criteria, co-morbidity with clinical syndromes, psychotic symptoms, and other personality disorders compared to ASPD alone. ASPD criteria demonstrated specific associations with CIS-R scores of anxiety and affective symptoms. Findings suggest ASPD/anxiety disorder is a variant of ASPD, determined by symptoms of anxiety. Although co-morbid anxiety and affective symptoms are the same as in anxiety disorder alone, associations with psychotic symptoms require further investigation. Copyright 2010 Elsevier Ltd. All rights reserved.

A Prospective Investigation of Affect, the Desire to Gamble, Gambling Motivations and Gambling Behavior in the Mood Disorders.

PubMed

Quilty, Lena C; Watson, Chris; Toneatto, Tony; Bagby, R Michael

2017-03-01

Time-sampling methodology was implemented to examine the prospective associations between affect, desire to gamble, and gambling behavior in individuals diagnosed with a mood disorder. Thirty (9 male, 21 female) adults with a lifetime diagnosis of a depressive or bipolar disorder diagnosis who endorsed current gambling and lifetime gambling harm participated in the present study. Participants completed electronic diary entries of their current affective state, desire to gamble, and gambling behavior for 30 consecutive days. Hierarchical linear modelling revealed that affect was not a predictor of gambling behavior. Instead, affect predicted the desire to gamble, with high levels of sadness and arousal independently predicting an increased desire to gamble. Desire to gamble predicted actual gambling behavior. There were no differences across diagnostic groups in terms of gambling motivations at baseline; however, during the 30-day period, participants with bipolar disorder endorsed gambling to cope with negative affect more often than did participants with depressive disorder, whereas those with depressive disorder more often endorsed gambling for social reasons or enhancement of positive affect. The present findings provide evidence that negative affect is not directly related to actual gambling behavior, and suggest that affective states rather impact the desire to gamble.

Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome.

PubMed

Hutson, Russell L; Thompson, Rachel L; Bantel, Andrew P; Tessier, Charles R

2018-02-15

Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene. This study investigated the ability of acamprosate to rescue cellular, molecular and behavioral defects in the Drosophila model of FXS. A high (100μM) and low (10μM) dose of acamprosate was fed to Drosophila FXS (dfmr1 null) or genetic control (w 1118 ) larvae and then analyzed in multiple paradigms. A larval crawling assay was used to monitor aberrant FXS behavior, overgrowth of the neuromuscular junction (NMJ) was quantified to assess neuronal development, and quantitative RT-PCR was used to evaluate expression of deregulated cbp53E mRNA. Acamprosate treatment partially or completely rescued all of the FXS phenotypes analyzed, according to dose. High doses rescued cellular overgrowth and dysregulated cbp53E mRNA expression, but aberrant crawling behavior was not affected. Low doses of acamprosate, however, did not affect synapse number at the NMJ, but could rescue NMJ overgrowth, locomotor defects, and cbp53E mRNA expression. This dual nature of acamprosate suggests multiple molecular mechanisms may be involved in acamprosate function depending on the dosage used. Acamprosate may be a useful therapy for FXS and potentially other autism spectrum disorders. However, understanding the molecular mechanisms involved with different doses of this drug will likely be necessary to obtain optimal results. Copyright © 2018 Elsevier Inc. All rights reserved.

Impact of new-generation agents on antiepileptic drug prescribing patterns in a residential ICF-MR facility.

PubMed

Smith, Stacey Allison; McKee, Jerry R

2004-06-01

Describe the impact of newer antiepileptic drugs (AEDs) on prescribing practices in a large, residential intermediate-care facility for the mentally retarded (ICF-MR), with onsite clinical pharmacist support services, over a 15-year period. All residents at the facility receiving AEDs for management of seizure disorder were included in this retrospective assessment. Number and type of AEDs used per individual were recorded and analyzed over the 15-year interval. Current prescribing practices were evaluated regarding rational polytherapy prescribing trends. 400-bed residential ICF-MR for the severe to profoundly mentally retarded. All individuals residing at the ICF-MR facility receiving AED therapy for a seizure disorder. Residents were primarily in the severe to profound range of developmental disability, with multiple medical comorbidities. Clinical pharmacists actively participate in all treatment teams and monthly neurology clinic to promote and encourage rational pharmacotherapy. Prescribing trends related to AED therapy were followed over a 15-year period. Comparisons were made regarding monotherapy and polytherapy at multiple-year intervals, with specific emphasis on how the newer generation AEDs have affected use of older medications. Overall trend from 1988 suggests more monotherapy and less use of barbiturates. Introduction of a new generation of AEDs has not affected the overall trend toward one- or two-drug regimens over the period in review. The relative stability of the number of AEDs per resident during the introduction of a new generation of AEDs suggests that as new drugs are added, ineffective or problem-prone drugs are discontinued.

A Lifetime Prevalence of Comorbidity Between Bipolar Affective Disorder and Anxiety Disorders: A Meta-analysis of 52 Interview-based Studies of Psychiatric Population

PubMed Central

Nabavi, Behrouz; Mitchell, Alex J.; Nutt, David

2015-01-01

Background Bipolar affective disorder has a high rate of comorbidity with a multitude of psychiatric disorders and medical conditions. Among all the potential comorbidities, co-existing anxiety disorders stand out due to their high prevalence. Aims To determine the lifetime prevalence of comorbid anxiety disorders in bipolar affective disorder under the care of psychiatric services through systematic review and meta-analysis. Method Random effects meta-analyses were used to calculate the lifetime prevalence of comorbid generalised anxiety disorder, panic disorder, social anxiety disorder, specific phobia, agoraphobia, obsessive compulsive disorder and posttraumatic stress disorder in bipolar affective disorder. Results 52 studies were included in the meta-analysis. The rate of lifetime comorbidity was as follows: panic disorder 16.8% (95% CI 13.7–20.1), generalised anxiety disorder 14.4% (95% CI 10.8–18.3), social anxiety disorder13.3% (95% CI 10.1–16.9), post-traumatic stress disorder 10.8% (95% CI 7.3–14.9), specific phobia 10.8% (95% CI 8.2–13.7), obsessive compulsive disorder 10.7% (95% CI 8.7–13.0) and agoraphobia 7.8% (95% CI 5.2–11.0). The lifetime prevalence of any anxiety disorders in bipolar disorder was 42.7%. Conclusions Our results suggest a high rate of lifetime concurrent anxiety disorders in bipolar disorder. The diagnostic issues at the interface are particularly difficult because of the substantial symptom overlap. The treatment of co-existing conditions has clinically remained challenging. PMID:26629535

Associations between DSM-IV mental disorders and subsequent COPD diagnosis.

PubMed

Rapsey, Charlene M; Lim, Carmen C W; Al-Hamzawi, Ali; Alonso, Jordi; Bruffaerts, Ronny; Caldas-de-Almeida, J M; Florescu, Silvia; de Girolamo, Giovanni; Hu, Chiyi; Kessler, Ronald C; Kovess-Masfety, Viviane; Levinson, Daphna; Medina-Mora, María Elena; Murphy, Sam; Ono, Yutaka; Piazza, Maria; Posada-Villa, Jose; ten Have, Margreet; Wojtyniak, Bogdan; Scott, Kate M

2015-11-01

COPD and mental disorder comorbidity is commonly reported, although findings are limited by substantive weaknesses. Moreover, few studies investigate mental disorder as a risk for COPD onset. This research aims to investigate associations between current (12-month) DSM-IV mental disorders and COPD, associations between temporally prior mental disorders and subsequent COPD diagnosis, and cumulative effect of multiple mental disorders. Data were collected using population surveys of 19 countries (n=52,095). COPD diagnosis was assessed by self-report of physician's diagnosis. The World Mental Health-Composite International Diagnostic Interview (WMH-CIDI) was used to retrospectively assess lifetime prevalence and age at onset of 16 DSM-IV disorders. Adjusting for age, gender, smoking, education, and country, survival analysis estimated associations between first onset of mental disorder and subsequent COPD diagnosis. COPD and several mental disorders were concurrently associated across the 12-month period (ORs 1.5-3.8). When examining associations between temporally prior disorders and COPD, all but two mental disorders were associated with COPD diagnosis (ORs 1.7-3.5). After comorbidity adjustment, depression, generalized anxiety disorder, and alcohol abuse were significantly associated with COPD (ORs 1.6-1.8). There was a substantive cumulative risk of COPD diagnosis following multiple mental disorders experienced over the lifetime. Mental disorder prevalence is higher in those with COPD than those without COPD. Over time, mental disorders are associated with subsequent diagnosis of COPD; further, the risk is cumulative for multiple diagnoses. Attention should be given to the role of mental disorders in the pathogenesis of COPD using prospective study designs. Copyright © 2015 Elsevier Inc. All rights reserved.

Associations between DSM-IV mental disorders and subsequent COPD diagnosis

PubMed Central

Rapsey, Charlene M.; Lim, Carmen C.W.; Al-Hamzawi, Ali; Alonso, Jordi; Bruffaerts, Ronny; Caldas-de-Almeida, J.M.; Florescu, Silvia; de Girolamo, Giovanni; Hu, Chiyi; Kessler, Ronald C.; Kovess-Masfety, Viviane; Levinson, Daphna; Elena Medina-Mora, María; Murphy, Sam; Ono, Yutaka; Piazza, Maria; Posada-Villa, Jose; ten Have, Margreet; Wojtyniak, Bogdan; Scott, Kate M.

2016-01-01

Objectives COPD and mental disorder comorbidity is commonly reported, although findings are limited by substantive weaknesses. Moreover, few studies investigate mental disorder as a risk for COPD onset. This research aims to investigate associations between current (12-month) DSM-IV mental disorders and COPD, associations between temporally prior mental disorders and subsequent COPD diagnosis, and cumulative effect of multiple mental disorders. Methods Data were collected using population surveys of 19 countries (n = 52,095). COPD diagnosis was assessed by self-report of physician's diagnosis. The World Mental Health-Composite International Diagnostic Interview (WMH-CIDI) was used to retrospectively assess lifetime prevalence and age at onset of 16 DSM-IV disorders. Adjusting for age, gender, smoking, education, and country, survival analysis estimated associations between first onset of mental disorder and subsequent COPD diagnosis. Results COPD and several mental disorders were concurrently associated across the 12-month period (ORs 1.5–3.8). When examining associations between temporally prior disorders and COPD, all but two mental disorders were associated with COPD diagnosis (ORs 1.7–3.5). After comorbidity adjustment, depression, generalized anxiety disorder, and alcohol abuse were significantly associated with COPD (ORs 1.6–1.8). There was a substantive cumulative risk of COPD diagnosis following multiple mental disorders experienced over the lifetime. Conclusions: Mental disorder prevalence is higher in those with COPD than those without COPD. Over time, mental disorders are associated with subsequent diagnosis of COPD; further, the risk is cumulative for multiple diagnoses. Attention should be given to the role of mental disorders in the pathogenesis of COPD using prospective study designs. PMID:26526305

Brain Mechanisms of Affective Language Comprehension in Autism Spectrum Disorders

DTIC Science & Technology

2016-10-01

AWARD NUMBER: W81XWH-14-1-0457 TITLE: Brain Mechanisms of Affective Language Comprehension in Autism Spectrum Disorders PRINCIPAL INVESTIGATOR...TITLE AND SUBTITLE Brain Mechanisms of Affective Language Comprehension in Autism Spectrum Disorders 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-14...Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT Profound deficits in the domain of social communication are a hallmark of autism spectrum disorders (ASD

Comparison of psychopathological dimensions between major depressive disorder and schizophrenia spectrum disorders focusing on language, affectivity and motor behavior.

PubMed

Steinau, Sarah; Stegmayer, Katharina; Lang, Fabian U; Jäger, Markus; Strik, Werner; Walther, Sebastian

2017-04-01

This study tested whether patients with major depressive disorder (MDD) and schizophrenia spectrum disorders would differ in three dimensions of psychopathology (language, affectivity and motor behavior) as assessed by the Bern Psychopathology Scale (BPS) in a cohort of 58 patients with MDD and 146 patients with schizophrenia spectrum disorders. The overall estimation of severity of each of the three dimensions was rated on a seven-point Likert scale from severely inhibited to severely disinhibited. Here, more than half of the patients endorsed ratings that showed normal or mildly (dis-)inhibited behavior. At group level more pronounced negative ratings of affect were seen in MDD. Group comparisons of the severity ratings on language or motor behavior yielded no differences between schizophrenia spectrum disorders and MDD. At the individuals' levels, extreme ratings in the language and motor dimensions were more frequent in schizophrenia spectrum disorders and in the affectivity dimension more frequent in MDD. Shared psychopathological features could be seen across diagnoses, supporting a dimensional approach to psychopathology in endogenous psychoses. However, the groups differ in the severity of affect ratings as well as in the distribution of language, affectivity and motor ratings with more variance among the group of schizophrenia spectrum disorders. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Occurrence of the Cys311 DRD2 variant in a pedigree multiply affected with panic disorder

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

Crawford, F.; Hoyne, J.; Diaz, P.

1995-08-14

Following the detection of the rare DRD2 codon 311 variant (Ser{yields}Cys) in an affected member from a large, multiply affected panic disorder family, we investigated the occurrence of this variant in other family members. The variant occurred in both affected and unaffected individuals. Further screening in panic disorder sib pairs unrelated to this family failed to detect the Cys311 variant. Our data suggests that this variant has no pathogenic role in panic disorder. 18 refs., 1 fig.

The Parental Fitness of Mothers with Multiple Personality Disorder: A Preliminary Study.

ERIC Educational Resources Information Center

Kluft, Richard P.

1987-01-01

A review of the parenting patterns of 75 mothers with multiple personality disorders indicated 38.7% were competent or exceptional mothers, 16% were grossly abusive, and 45.3% were compromised or impaired as parents. (DB)

Sleep and fatigue in multiple sclerosis: A questionnaire-based, cross-sectional, cohort study.

PubMed

Nociti, Viviana; Losavio, Francesco Antonio; Gnoni, Valentina; Losurdo, Anna; Testani, Elisa; Vollono, Catello; Frisullo, Giovanni; Brunetti, Valerio; Mirabella, Massimiliano; Della Marca, Giacomo

2017-01-15

Fatigue and sleep disorders are frequently reported in patients affected by Multiple Sclerosis (MS) but the causes and the relationship are not yet fully understood. This study aimed at evaluating their prevalence, at determining the relationships between clinical findings of MS and the occurrence of sleep disorders and at investigating the relations between sleep disorders and fatigue. One hundred and two MS patients were enrolled in the study. They were analyzed on both their clinical features (type of MS, disease duration, clinical severity, type of treatment, presence of spinal demyelinating lesions) and specific scales scores (Expanded Disability Status Scale, Modified Fatigue Impact Scale - MFIS, Self-Administered Anxiety Scale - SAS, Beck's Depression Inventory - BDI, Pittsburgh Sleep Quality Index - PSQI, Epworth Sleepiness Scale - ESS, and the Berlin's questionnaire for Obstruction Sleep Apnea Syndrome - OSAS). Patients with poor sleep quality are more frequently fatigued (p=0.001), have higher MFIS global scores (p<0.001), higher prevalence of RLS symptoms (p=0.049), and show higher scores at BDI (p=0.017) and SAS (p≤0.001). Conversely patients with fatigue show older age (p=0.005), higher prevalence of sleepiness (p=0.021), higher prevalence of RLS symptoms (p=0.030), higher prevalence of poor sleep quality (p<0.001) with higher PSQI scores (p<0.001), higher scores on the BDI (p<0.001) and SAS (p≤0.001). This study shows that MS is associated with a high prevalence of sleep complaints, including subjectively poor sleep quality, excessive daytime sleepiness, RLS and symptoms of OSAS. Further, it demonstrated a strict relation between fatigue and sleep disorders. Finally, it underlines their relationship with anxiety and depression in MS patients. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

PubMed

Leblond, Claire S; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsäter, Henrik; Nygren, Gudrun; Gillberg, I Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemière, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P; Järvelä, Irma; Kantojärvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M; Poustka, Fritz; Freitag, Christine M; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Françoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M; Bourgeron, Thomas

2012-02-01

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

PubMed Central

Leblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsäter, Henrik; Nygren, Gudrun; Gillberg, I. Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemière, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P.; Järvelä, Irma; Kantojärvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A.; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M.; Poustka, Fritz; Freitag, Christine M.; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F.; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W.; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Françoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M.; Bourgeron, Thomas

2012-01-01

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11–q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD. PMID:22346768

The bidirectional association between daytime affect and nighttime sleep in youth with anxiety and depression.

PubMed

Cousins, Jennifer C; Whalen, Diana J; Dahl, Ronald E; Forbes, Erika E; Olino, Thomas M; Ryan, Neal D; Silk, Jennifer S

2011-10-01

This study examines relationships between affect and sleep in youth with affective disorders using ecological momentary assessment (EMA). Participants included 94 youth, ages 8-16 (M = 11.73, 53% female) years with an anxiety disorder only (n = 23), primary major depressive disorder (with and without a secondary anxiety diagnoses; n = 42), and healthy controls (n = 29). A cell phone EMA protocol assessed affect and actigraphy measured sleep. The patterns of bidirectional relationships between affect and sleep differed across diagnostic groups. Higher daytime positive affect and positive to negative affect ratios were associated with more time in bed during the subsequent night for youth with primary depression and less time in bed for youth with anxiety only. More time asleep was associated with more positive affect for both diagnostic groups the following day. This relationship may be important to consider in the treatment of youth affective disorders.

A model for diagnosing and explaining multiple disorders.

PubMed

Jamieson, P W

1991-08-01

The ability to diagnose multiple interacting disorders and explain them in a coherent causal framework has only partially been achieved in medical expert systems. This paper proposes a causal model for diagnosing and explaining multiple disorders whose key elements are: physician-directed hypotheses generation, object-oriented knowledge representation, and novel explanation heuristics. The heuristics modify and link the explanations to make the physician aware of diagnostic complexities. A computer program incorporating the model currently is in use for diagnosing peripheral nerve and muscle disorders. The program successfully diagnoses and explains interactions between diseases in terms of underlying pathophysiologic concepts. The model offers a new architecture for medical domains where reasoning from first principles is difficult but explanation of disease interactions is crucial for the system's operation.

[The Relationship of Suicide Attempts with Affective Temperament and Relevant Clinical Features in Patients with Mood Disorders].

PubMed

Ekşioğlu, Sevgin; Güleç, Hüseyin; Şimşek, Gülnihal; Semiz, Ümit Başar

2015-01-01

In this study, patients with affective disorders with or without suicide attempts were examined according to whether their disorder was unipolar or bipolar. An analysis was made of their socio-demographic variables, comorbid psychiatric symptoms, and affective temperament dimensions in order to understand the effects of these variables on suicide risk. The study populations consisted of 246 inpatients with affective disorders who had been admitted to the Erenköy Research and Training Hospital for Mental and Neurological Disorders (93 patients with unipolar disorders, 153 with bipolar disorders). The TEMPS-A (Temperament Evaluation of Memphis, Pisa, Paris and San Diego Auto-questionnaire), the Beck Hopelessness Scale (BHS) and the Symptom Checklist-90-Revised (SCL-90-R) psychological symptom screening tests were applied to all patients. In order to determine the affective disorder diagnosis and to identify suicide attempts, a Mini International Neuropsychiatric Interview (MINI) was performed during the first 48 hours of hospitalization. The cyclothymic and anxious temperament dimensions measured using TEMPS-A, somatic symptoms obtained from a symptom checklist, and psychiatric disorders in the family were found to be good indicators of suicide attempts in patients with unipolar disorders in this study. An investigation of predictors of suicide attempts in bipolar patients showed that cyclothymic temperament pattern, paranoid symptoms, evaluated through symptom screening test and having a psychiatric disorder in the family are good predictors of a suicide attempt. The findings are expected to guadiance to preventing suicide in patients with affective disorders. The inclusion in this study of patients with different index episodes of illness, including manic, depressive and mixed periods, can be accepted as a significant limitation of this study.

Suicide risk in major affective disorder: results from a national survey in China.

PubMed

Chen, Lin; Liu, Yan-Hong; Zheng, Qi-Wen; Xiang, Yu-Tao; Duan, Yan-Ping; Yang, Fu-de; Wang, Gang; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Chen, Da-Fang; Si, Tian-Mei

2014-02-01

This study investigated suicide risk and its correlates among major affective disorder patients in China and examined possible risk factors for future suicide among individuals with major affective disorder to inform appropriate interventions and management approaches to minimize and prevent suicide. A total of 1478 major affective disorder patients were consecutively examined in 13 mental health centers in China. The patients' socio-demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. DSM-IV diagnoses were established using the Mini International Neuropsychiatric Interview (MINI), and suicide risk was assessed by the suicide risk module of the MINI. Of the patients, 963 (65.2%) were in the nonsuicidal risk group and 515 (34.8%) were in the suicidal risk group. Compared to major depressive disorder patients, bipolar disorder patients had higher suicide risk levels (χ2=10.0, df=1, P=0.002); however, there were no statistically significant differences (χ2=2.6, df=1, P=0.1) between bipolar disorder-I and bipolar disorder-II patients. Suicide risk factors were associated with 6 variables in major affective disorder patients, as follows: male gender, unemployed, more frequent depressive episodes (>4 in the past year), depressive episodes with suicidal ideation and attempts, depressive episodes with psychotic symptoms, and no current antidepressant use. Most of the data were retrospectively collected and, therefore, subject to recall bias. This study suggested that bipolar disorder patients have a higher suicide risk than major depressive disorder patients. The factors that were significantly associated with suicide risk may aid in identifying major affective disorder patients who are at risk for future suicidal behavior. © 2013 Published by Elsevier B.V.

Substance Abuse and Addiction: Implications for Pain Management in Patients With Cancer
.

PubMed

Compton, Peggy; Chang, Yu-Ping

2017-04-01

Substance use disorders (SUDs) are chronic diseases that may complicate the nursing care of patients with cancer, affecting their ability to adhere to treatment protocols, responses to cancer pain, and use of opioids for analgesia. This article explores how the presence of an SUD may affect oncology nursing care and pain management. The PubMed and CINAHL® databases were searched for articles from 1980-2016 using the keywords cancer, cancer pain, addiction, substance abuse, and alcoholism.
. SUD is a common comorbidity in patients with cancer that may play a role in disease etiology. Practice guidelines are suggested for the assessment and management of addiction to improve overall outcomes for patients. Effective treatments for SUDs and cancer pain exist, and recovery can lead to improvements in multiple aspects of patients' lives.

Interpersonal sensitivity mediates the effects of child abuse and affective temperaments on depressive symptoms in the general adult population.

PubMed

Otsuka, Ayano; Takaesu, Yoshikazu; Sato, Mitsuhiko; Masuya, Jiro; Ichiki, Masahiko; Kusumi, Ichiro; Inoue, Takeshi

2017-01-01

Recent studies have suggested that multiple factors interact with the onset and prognosis of major depressive disorders. In this study, we investigated how child abuse, affective temperaments, and interpersonal sensitivity are interrelated, and how they affect depressive symptoms in the general adult population. A total of 415 volunteers from the general adult population completed the Patient Health Questionnaire-9, the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego-Autoquestionnaire version, the Child Abuse and Trauma Scale, and the Interpersonal Sensitivity Measure, which are all self-administered questionnaires. Data were subjected to structural equation modeling (Mplus), and single and multiple regression analyses. The effect of child abuse on depressive symptoms was mediated by interpersonal sensitivity and 4 affective temperaments, including depressive, cyclothymic, anxious, and irritable temperaments. In addition, the effect of these temperaments on depressive symptoms was mediated by interpersonal sensitivity, indicating the indirect enhancement of depressive symptoms. In contrast to these 4 temperaments, the hyperthymic temperament did not mediate the effect of child abuse on depressive symptoms; its effect was not mediated by interpersonal sensitivity. However, a greater hyperthymic temperament predicted decreased depressive symptoms and interpersonal sensitivity, independent of any mediation effect. Because this is a cross-sectional study, long-term prospective studies are necessary to confirm its findings. Therefore, recall bias should be considered when interpreting the results. As the subjects were adults from the general population, the results may not be generalizable towards all patients with major depression. This study suggests that child abuse and affective temperaments affect depressive symptoms partly through interpersonal sensitivity. Interpersonal sensitivity may have a major role in forming the link between abuse, affective temperament, and depression.

Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders.

PubMed Central

Aubby, D; Saggu, H K; Jenner, P; Quinn, N P; Harding, A E; Marsden, C D

1988-01-01

Leukocyte glutamate dehydrogenase (GDH) activity was measured in 39 normal subjects, 32 neurological controls, 66 patients with progressive ataxic disorders, 32 with multiple system atrophy, 40 with Parkinson's disease, eight with Steele-Richardson-Olszewski syndrome, eight with juvenile Parkinsonism and four with the dystonia-Parkinsonism syndrome. GDH activity was reproducible to within 10% in leukocyte pellets stored at -70 degrees C for up to 9 months, and did not vary with sex or age in control subjects. There was marked variation in the relative proportions of heat stable and heat labile forms of GDH between control subjects and on repeated assay in the same subject. Total leukocyte GDH activity was similar in normal subjects and neurological controls. Mean total GDH activity was reduced in all patient groups by between 15 to 29% compared with controls. Fourteen patients had total GDH activity below 50% of the control mean, but low values were not specific for any one disease (five had ataxic disorders, four Parkinson's disease, three multiple system atrophy, one juvenile Parkinsonism, and one dystonia-Parkinsonism). The heat labile fraction of GDH represented about 20% of total activity in control subjects, and 27% in the patients with reduced total GDH activity. Thus low GDH activity was not disease-specific in this study, and the heat-labile GDH fraction was not selectively affected. "Reduced" leucocyte GDH activity in some patients may represent no more than the lower end of a normal distribution. PMID:3204397

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

PubMed Central

Yourshaw, Michael; Solorzano-Vargas, R. Sergio; Pickett, Lindsay A.; Lindberg, Iris; Wang, Jiafang; Cortina, Galen; Pawlikowska-Haddal, Anna; Baron, Howard; Venick, Robert S.; Nelson, Stanley F.; Martín, Martín G.

2014-01-01

Objectives Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many subjects eventually require a prolonged course of intravenous nutrition. Here we describe next-generation sequencing techniques to investigate a child with perplexing congenital malabsorptive diarrhea and other presumably unrelated clinical problems; this method provides an alternative approach to molecular diagnosis. Methods We screened the diploid genome of an affected individual, using exome sequencing, for uncommon variants that have observed protein-coding consequences. We assessed the functional activity of the mutant protein, as well as its lack of expression using immunohistochemistry. Results Among several rare variants detected was a homozygous nonsense mutation in the catalytic domain of the proprotein convertase subtilisin/kexin type 1 gene. The mutation abolishes prohormone convertase 1/3 endoprotease activity as well as expression in the intestine. These primary genetic findings prompted a careful endocrine reevaluation of the child at 4.5 years of age, and multiple significant problems were subsequently identified consistent with the known phenotypic consequences of proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations. Based on the molecular diagnosis, alternate medical and dietary management was implemented for diabetes insipidus, polyphagia, and micropenis. Conclusions Whole-exome sequencing provides a powerful diagnostic tool to clinicians managing rare genetic disorders with multiple perplexing clinical manifestations. PMID:24280991

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

PubMed

Yourshaw, Michael; Solorzano-Vargas, R Sergio; Pickett, Lindsay A; Lindberg, Iris; Wang, Jiafang; Cortina, Galen; Pawlikowska-Haddal, Anna; Baron, Howard; Venick, Robert S; Nelson, Stanley F; Martín, Martín G

2013-12-01

Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many subjects eventually require a prolonged course of intravenous nutrition. Here we describe next-generation sequencing techniques to investigate a child with perplexing congenital malabsorptive diarrhea and other presumably unrelated clinical problems; this method provides an alternative approach to molecular diagnosis. We screened the diploid genome of an affected individual, using exome sequencing, for uncommon variants that have observed protein-coding consequences. We assessed the functional activity of the mutant protein, as well as its lack of expression using immunohistochemistry. Among several rare variants detected was a homozygous nonsense mutation in the catalytic domain of the proprotein convertase subtilisin/kexin type 1 gene. The mutation abolishes prohormone convertase 1/3 endoprotease activity as well as expression in the intestine. These primary genetic findings prompted a careful endocrine reevaluation of the child at 4.5 years of age, and multiple significant problems were subsequently identified consistent with the known phenotypic consequences of proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations. Based on the molecular diagnosis, alternate medical and dietary management was implemented for diabetes insipidus, polyphagia, and micropenis. Whole-exome sequencing provides a powerful diagnostic tool to clinicians managing rare genetic disorders with multiple perplexing clinical manifestations.

Aquatherapy for neurodegenerative disorders.

PubMed

Plecash, Alyson R; Leavitt, Blair R

2014-01-01

Aquatherapy is used for rehabilitation and exercise; water provides a challenging, yet safe exercise environment for many special populations. We have reviewed the use of aquatherapy programs in four neurodegenerative disorders: Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, and Huntington's disease. Results support the use of aquatherapy in Parkinson's disease and multiple sclerosis, however further evidence is required to make specific recommendations in all of the aforementioned disorders.

Gut-Microbiota-Brain Axis and Its Effect on Neuropsychiatric Disorders With Suspected Immune Dysregulation.

PubMed

Petra, Anastasia I; Panagiotidou, Smaro; Hatziagelaki, Erifili; Stewart, Julia M; Conti, Pio; Theoharides, Theoharis C

2015-05-01

Gut microbiota regulate intestinal function and health. However, mounting evidence indicates that they can also influence the immune and nervous systems and vice versa. This article reviews the bidirectional relationship between the gut microbiota and the brain, termed the microbiota-gut-brain (MGB) axis, and discusses how it contributes to the pathogenesis of certain disorders that may involve brain inflammation. Articles were identified with a search of Medline (starting in 1980) by using the key words anxiety, attention-deficit hypersensitivity disorder (ADHD), autism, cytokines, depression, gut, hypothalamic-pituitary-adrenal (HPA) axis, inflammation, immune system, microbiota, nervous system, neurologic, neurotransmitters, neuroimmune conditions, psychiatric, and stress. Various afferent or efferent pathways are involved in the MGB axis. Antibiotics, environmental and infectious agents, intestinal neurotransmitters/neuromodulators, sensory vagal fibers, cytokines, and essential metabolites all convey information to the central nervous system about the intestinal state. Conversely, the hypothalamic-pituitary-adrenal axis, the central nervous system regulatory areas of satiety, and neuropeptides released from sensory nerve fibers affect the gut microbiota composition directly or through nutrient availability. Such interactions seem to influence the pathogenesis of a number of disorders in which inflammation is implicated, such as mood disorder, autism-spectrum disorders, attention-deficit hypersensitivity disorder, multiple sclerosis, and obesity. Recognition of the relationship between the MGB axis and the neuroimmune systems provides a novel approach for better understanding and management of these disorders. Appropriate preventive measures early in life or corrective measures such as use of psychobiotics, fecal microbiota transplantation, and flavonoids are discussed. Copyright © 2015 Elsevier HS Journals, Inc. All rights reserved.

Hierarchical personality traits and the distinction between unipolar and bipolar disorders.

PubMed

Quilty, Lena C; Pelletier, Marianne; Deyoung, Colin G; Michael Bagby, R

2013-05-01

The association between personality and psychopathology can provide an insight into the structure of mental disorders and the shared etiology and pathophysiology underlying diagnoses with overlapping symptomatology. The majority of personality-psychopathology research pertinent to the mood disorders has focused upon traits at the higher-order levels of the personality hierarchy, rather than those at intermediate or lower levels. The purpose of the current investigation was to investigate whether unipolar and bipolar mood disorders, and the severity of depressive and manic symptoms, show differential associations with traits at multiple levels of the personality hierarchy. Participants (N=275; 63% women; mean age 42.95 years) with depressive disorders (n=139) and bipolar disorders (n=136), as assessed by the Structured Clinical Interview for DSM-IV, Axis I Disorders, Patient Version (SCID-I/P; First et al., 1995), completed the Hamilton Depression Rating Scale, Young Mania Scale, Revised NEO Personality Inventory and Big Five Aspect Scales. Results support the hypothesis that lower levels of the personality hierarchy provide additional differentiation of affective pathology. As compared to the widespread association of depressive symptoms with traits across the personality hierarchy, manic symptoms demonstrated more specific associations with traits at lower levels of the personality hierarchy. Patients with severe mania were excluded, thus the full range of mania is not represented in the current sample. These results support the use of lower-order personality traits to discriminate between unipolar versus bipolar mood disorder, and are consistent with changes proposed to the psychiatric nosology to increase diagnostic precision. Copyright © 2012 Elsevier B.V. All rights reserved.

Umbilical Cord Blood Transplantation From Unrelated Donors

ClinicalTrials.gov

2018-02-17

Acute Leukemia; Immune Deficiency Disorder; Congenital Hematological Disorder; Metabolism Disorder; Aplastic Anemia; Myelodysplastic Syndromes; Chronic Leukemia; Lymphoma; Multiple Myeloma; Solid Tumor

[Psychopathology of anxiety-phobic disorders that led to hospitalization in a psychiatric hospital].

PubMed

Chugunov, D A; Schmilovitch, A A

To study the psychopathology of anxiety-phobic disorders and motives of hospitalization of patients in a psychiatric hospital. One hundred and thirty-two patients were examined, 72 patients of the main group were admitted to general psychiatric departments, 60 patients of the control group in the sanatorium psychiatric departments. Clinical-psychopathological, follow-up, psychometric and statistical methods were used. Patients with hospital anxiety-phobic disorders had agoraphobia with panic disorder, social phobias, hypochondriacal phobias, specific phobias and multiple phobias. The main reasons for hospitalization were: the intensity of anxiety-phobic disorders, contrast content of phobias, multiplicity of anxiety-phobic disorders, ambulance calls, personality accentuations and rental aims.

The effects of a multiple family therapy on adolescents with eating disorders: an outcome study.

PubMed

Gelin, Zoé; Fuso, Silvana; Hendrick, Stephan; Cook-Darzens, Solange; Simon, Yves

2015-03-01

Multiple Family Therapy (MFT) has gained increasing popularity in the treatment of eating disorders and many programs have been developed over the past decade. Still, there is little evidence in the literature on the effectiveness on MFT for treating eating disorders. The present study examines the effects of a particular model of Multiple Family Therapy on eating disorder symptoms, quality of life, and percentage of Expected Body Weight (%EBW) in adolescents with eating disorders (ED). Eighty-two adolescents with ED, aged between 11 and 19 years, were assessed before and after treatment using the Eating Disorders Inventory 2 (EDI-2), the Outcome Questionnaire 45 (OQ-45) and %EBW. Results showed a significant increase in %EBW between the beginning and end of treatment, with a large effect size. 52.4% of patients achieved an EBW above 85%. Symptoms relative to all EDI dimensions (except for bulimia) significantly decreased during treatment. The three dimensions related to quality of life assessment also improved over the course of MFT. At the end of treatment, 70.7% of patients had a total OQ-45 score below clinical significance. This study suggests that Multiple Family Therapy may benefit adolescents with eating disorders, with improvement on several outcome measures (%EBW, ED symptoms, and quality of life). However, the lack of a comparison group entails caution when drawing conclusions. © 2014 Family Process Institute.

Developmental evaluation of family functioning deficits in youths and young adults with childhood-onset bipolar disorder.

PubMed

MacPherson, Heather A; Ruggieri, Amanda L; Christensen, Rachel E; Schettini, Elana; Kim, Kerri L; Thomas, Sarah A; Dickstein, Daniel P

2018-08-01

Childhood-onset bipolar disorder (BD) is a serious condition that affects the patient and family. While research has documented familial dysfunction in individuals with BD, no studies have compared developmental differences in family functioning in youths with BD vs. adults with prospectively verified childhood-onset BD. The Family Assessment Device (FAD) was used to examine family functioning in participants with childhood-onset BD (n = 116) vs. healthy controls (HCs) (n = 108), ages 7-30 years, using multivariate analysis of covariance and multiple linear regression. Participants with BD had significantly worse family functioning in all domains (problem solving, communication, roles, affective responsiveness, affective involvement, behavior control, general functioning) compared to HCs, regardless of age, IQ, and socioeconomic status. Post-hoc analyses suggested no influence for mood state, global functioning, comorbidity, and most medications, despite youths with BD presenting with greater severity in these areas than adults. Post-hoc tests eliminating participants taking lithium (n = 17) showed a significant diagnosis-by-age interaction: youths with BD had worse family problem solving and communication relative to HCs. Limitations include the cross-sectional design, clinical differences in youths vs. adults with BD, ambiguity in FAD instructions, participant-only report of family functioning, and lack of data on psychosocial treatments. Familial dysfunction is common in childhood-onset BD and endures into adulthood. Early identification and treatment of both individual and family impairments is crucial. Further investigation into multi-level, family-based mechanisms underlying childhood-onset BD may clarify the role family factors play in the disorder, and offer avenues for the development of novel, family-focused therapeutic strategies. Copyright © 2018 Elsevier B.V. All rights reserved.

Lifetime Prevalence and Correlates of Schizophrenia-Spectrum, Affective, and Other Non-affective Psychotic Disorders in the Chinese Adult Population.

PubMed

Chang, Wing Chung; Wong, Corine Sau Man; Chen, Eric Yu Hai; Lam, Linda Chiu Wa; Chan, Wai Chi; Ng, Roger Man Kin; Hung, Se Fong; Cheung, Eric Fuk Chi; Sham, Pak Chung; Chiu, Helen Fung Kum; Lam, Ming; Lee, Edwin Ho Ming; Chiang, Tin Po; Chan, Lap Kei; Lau, Gary Kar Wai; Lee, Allen Ting Chun; Leung, Grace Tak Yu; Leung, Joey Shuk Yan; Lau, Joseph Tak Fai; van Os, Jim; Lewis, Glyn; Bebbington, Paul

2017-10-21

Lifetime prevalence of psychotic disorders varies widely across studies. Epidemiological surveys have rarely examined prevalences of specific psychotic disorders other than schizophrenia, and the majority used a single-phase design without employing clinical reappraisal interview for diagnostic verification. The current study investigated lifetime prevalence, correlates and service utilization of schizophrenia-spectrum, affective, and other non-affective psychotic disorders in a representative sample of community-dwelling Chinese adult population aged 16-75 years (N = 5719) based on a territory-wide, population-based household survey for mental disorders in Hong Kong. The survey adopted a 2-phase design comprising first-phase psychosis screening and second-phase diagnostic verification incorporating clinical information from psychiatrist-administered semi-structured interview and medical record review to ascertain DSM-IV lifetime diagnosis for psychotic disorders. Data on sociodemographics, psychosocial characteristics and service utilization were collected. Our results showed that lifetime prevalence was 2.47% for psychotic disorder overall, 1.25% for schizophrenia, 0.15% for delusional disorder, 0.38% for psychotic disorder not otherwise specified, 0.31% for bipolar disorder with psychosis, and 0.33% for depressive disorder with psychosis. Schizophrenia-spectrum disorder was associated with family history of psychosis, cigarette smoking and variables indicating socioeconomic disadvantage. Victimization experiences were significantly related to affective psychoses and other non-affective psychoses. Around 80% of participants with any psychotic disorder sought some kind of professional help for mental health problems in the past year. Using comprehensive diagnostic assessment involving interview and record data, our results indicate that approximately 2.5% of Chinese adult population had lifetime psychotic disorder which represents a major public health concern. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Affective disorders and functional (non-epileptic) seizures in persons with epilepsy.

PubMed

Johnson, Keith A; Macfarlane, Matthew D; Looi, Jeffrey Cl

2016-12-01

This paper aims to describe the prevalence, assessment and management of affective disorders as well as functional (non-epileptic) seizures in people with epilepsy. This paper comprises a selective review of the literature of the common affective manifestations of epilepsy. Affective disorders are the most common psychiatric comorbidity seen in people with epilepsy and assessment and management parallels that of the general population. Additionally, people with epilepsy may experience higher rates of mood instability, irritability and euphoria, classified together as a group, interictal dysphoric disorder and resembling an unstable bipolar Type II disorder. Functional seizures present unique challenges in terms of identification of the disorder and a lack of specific management. Given their high prevalence, it is important to be able to recognise affective disorders in people with epilepsy. Management principles parallel those in the general population with specific caution exercised regarding the potential interactions between antidepressant medications and antiepileptic drugs. Functional seizures are more complex and require a coordinated approach involving neurologists, psychiatrists, general practitioners, nursing and allied health. There is very limited evidence to guide psychological and behavioural interventions for neurotic disorders in epilepsy and much more research is needed. © The Royal Australian and New Zealand College of Psychiatrists 2016.

Dynamic structural disorder in supported nanoscale catalysts

NASA Astrophysics Data System (ADS)

Rehr, J. J.; Vila, F. D.

2014-04-01

We investigate the origin and physical effects of "dynamic structural disorder" (DSD) in supported nano-scale catalysts. DSD refers to the intrinsic fluctuating, inhomogeneous structure of such nano-scale systems. In contrast to bulk materials, nano-scale systems exhibit substantial fluctuations in structure, charge, temperature, and other quantities, as well as large surface effects. The DSD is driven largely by the stochastic librational motion of the center of mass and fluxional bonding at the nanoparticle surface due to thermal coupling with the substrate. Our approach for calculating and understanding DSD is based on a combination of real-time density functional theory/molecular dynamics simulations, transient coupled-oscillator models, and statistical mechanics. This approach treats thermal and dynamic effects over multiple time-scales, and includes bond-stretching and -bending vibrations, and transient tethering to the substrate at longer ps time-scales. Potential effects on the catalytic properties of these clusters are briefly explored. Model calculations of molecule-cluster interactions and molecular dissociation reaction paths are presented in which the reactant molecules are adsorbed on the surface of dynamically sampled clusters. This model suggests that DSD can affect both the prefactors and distribution of energy barriers in reaction rates, and thus can significantly affect catalytic activity at the nano-scale.

Too little, too late: reduced visual span and speed characterize pure alexia.

PubMed

Starrfelt, Randi; Habekost, Thomas; Leff, Alexander P

2009-12-01

Whether normal word reading includes a stage of visual processing selectively dedicated to word or letter recognition is highly debated. Characterizing pure alexia, a seemingly selective disorder of reading, has been central to this debate. Two main theories claim either that 1) Pure alexia is caused by damage to a reading specific brain region in the left fusiform gyrus or 2) Pure alexia results from a general visual impairment that may particularly affect simultaneous processing of multiple items. We tested these competing theories in 4 patients with pure alexia using sensitive psychophysical measures and mathematical modeling. Recognition of single letters and digits in the central visual field was impaired in all patients. Visual apprehension span was also reduced for both letters and digits in all patients. The only cortical region lesioned across all 4 patients was the left fusiform gyrus, indicating that this region subserves a function broader than letter or word identification. We suggest that a seemingly pure disorder of reading can arise due to a general reduction of visual speed and span, and explain why this has a disproportionate impact on word reading while recognition of other visual stimuli are less obviously affected.

Too Little, Too Late: Reduced Visual Span and Speed Characterize Pure Alexia

PubMed Central

Habekost, Thomas; Leff, Alexander P.

2009-01-01

Whether normal word reading includes a stage of visual processing selectively dedicated to word or letter recognition is highly debated. Characterizing pure alexia, a seemingly selective disorder of reading, has been central to this debate. Two main theories claim either that 1) Pure alexia is caused by damage to a reading specific brain region in the left fusiform gyrus or 2) Pure alexia results from a general visual impairment that may particularly affect simultaneous processing of multiple items. We tested these competing theories in 4 patients with pure alexia using sensitive psychophysical measures and mathematical modeling. Recognition of single letters and digits in the central visual field was impaired in all patients. Visual apprehension span was also reduced for both letters and digits in all patients. The only cortical region lesioned across all 4 patients was the left fusiform gyrus, indicating that this region subserves a function broader than letter or word identification. We suggest that a seemingly pure disorder of reading can arise due to a general reduction of visual speed and span, and explain why this has a disproportionate impact on word reading while recognition of other visual stimuli are less obviously affected. PMID:19366870

Gorlin syndrome and bilateral ovarian fibroma

PubMed Central

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

The Role of Mammalian Sirtuins in the Regulation of Metabolism, Aging, and Longevity

PubMed Central

Satoh, Akiko; Stein, Liana

2013-01-01

Ever since the discovery of sirtuins a decade ago, interest in this family of NAD-dependent deacetylases has exploded, generating multiple lines of evidence implicating sirtuins as evolutionarily conserved regulators of lifespan. In mammals, it has been established that sirtuins regulate physiological responses to metabolism and stress, two key factors that affect the process of aging. Further investigation into the intimate connection among sirtuins, metabolism, and aging has implicated the activation of SIRT1 as both preventative and therapeutic measures against multiple age-associated disorders including type 2 diabetes and Alzheimer’s disease. SIRT1 activation has clear potential to not only prevent age-associated diseases but also to extend healthspan and perhaps lifespan. Sirtuin activating compounds and NAD intermediates are two promising ways to achieve these elusive goals. PMID:21879449

Multiple sclerosis in an adrenoleukodystrophy carrier

PubMed Central

Jenkins, Thomas; Sarasamma, Priya; Gillett, Godfrey; Coley, Stuart; Sharrack, Basil

2011-01-01

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological symptoms. We report the case of a young adult female, who presented with episodic sensorimotor symptoms. Although she was a heterozygous female carrier of X-ALD, subsequent investigations confirmed a diagnosis of multiple sclerosis (MS). To the best of our knowledge, this is the first reported case of a female X-ALD carrier in which the clinical features were more consistent with co-existent MS than ALD-related pathology. The case serves as a reminder that alternative, more common diagnoses should also be considered in carriers of rare neurological syndromes. PMID:24765366

Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data.

PubMed

Rhoads, Stephanie Golubic; Hendricks, Heather M; Frazier-Bowers, Sylvia A

2013-08-01

Proper diagnosis and management of eruption disturbances remains challenging but is critical to a functional occlusion. The objective of this study was to establish definitive criteria to differentiate and diagnose eruption disorders, specifically primary failure of eruption (PFE) and ankylosis. Sixty-four affected persons were placed into 3 cohorts: PFE diagnosed through confirmed PTH1R mutation (n = 11), PFE diagnosed based on clinical criteria (n = 47), and ankylosis diagnosed based on clinical criteria (n = 6). These groups were assessed to identify clinical features that differentiate PFE and ankylosis. Ninety-three percent of the subjects in the genetic and clinical PFE cohorts combined (n = 58) and 100% in the genetic PFE cohort had at least 1 infraoccluded first permanent molar. Additionally, a novel functional PTH1R mutation, 1092delG, was identified and linked to PFE in the deciduous dentition. An infraoccluded, supracrestal first molar is a hallmark of PFE, often involving both arches in the permanent or deciduous dentition, and with unilateral or bilateral affection, infraoccluded second premolar or second molar, and multiple affected adjacent teeth. Our results further suggest that PFE and ankylosis might be clinically indistinguishable without knowledge of prior trauma, treatment history, genetic information, or obliteration of the periodontal ligament space. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

Mental Disorders - Multiple Languages

MedlinePlus

... An Introduction) - Русский (Russian) MP4 Healthy Roads Media Panic Disorder (An Introduction) - English PDF Panic Disorder (An Introduction) - Русский (Russian) PDF Panic Disorder (An ...

Posttraumatic stress disorder as a moderator of the association between negative affect and bulimic symptoms: an ecological momentary assessment study.

PubMed

Karr, Trisha M; Crosby, Ross D; Cao, Li; Engel, Scott G; Mitchell, James E; Simonich, Heather; Wonderlich, Stephen A

2013-01-01

The purpose of this study was to examine the potential moderating effect of posttraumatic stress disorder (PTSD) on the emotion-behavior relationship in individuals with bulimia nervosa (BN). A total of 119 women with BN were involved in the study. Participants were divided into 2 groups: those with BN and PTSD (n = 20) and those with BN only (n = 99). Ecological momentary assessment procedures were used for the examination of affect, frequency of bulimic behaviors, and the relationship of affect and bulimic behavior over time. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Axis I Disorders was conducted for the diagnosis of BN, PTSD, mood disorders, anxiety disorders, and substance use disorders. Mood disorders, anxiety disorders, and substance use disorders functioned as covariates in all analyses. Statistical models showed that those in the PTSD group reported a greater daily mean level of negative affect (NA) and a greater daily frequency of bulimic behaviors than those in the BN-only group. Moderation was found for the association between NA and time in that the PTSD group showed a faster acceleration in NA before purging and faster deceleration in NA after purging. The association between positive affect and time was also moderated by group, indicating that the PTSD group had a faster acceleration in positive affect after purging than the BN-only group. These findings highlight the importance of recognizing PTSD when interpreting the emotion-behavior relationship in individuals with BN. Published by Elsevier Inc.

Commentary: Cognitive and emotional empathy in transdiagnostic research - reflections on Klapwijk et al. (2016).

PubMed

Herrington, John D

2016-06-01

Evidence across multiple disorders indicates that empathy is a transdiagnostic dimension of psychopathology. Klapwijk et al.'s (2016) functional MRI study examines whether autism spectrum disorder (ASD) and conduct disorder (CD) can be distinguished by the constructs of 'cognitive' and 'emotional' empathy - with the former focusing on accurate emotion perception and the latter on shared affective experience. This commentary examines the implications of the cognitive/emotional empathy distinction, and how it fits with existing accounts of perceptual differences in ASD. Cognitive empathy overlaps substantially with the constructs of emotion perception and Theory of Mind - both well studied among individuals with ASD, but generally viewed as fairly distinct from empathy. CD, on the other hand, is typically not associated with frank perceptual deficits. Although the brain imaging data from this study do not provide strong support for the constructs of cognitive and emotional empathy, the general approach used in this study is precisely the kind needed to test the validity and utility of transdiagnostic mechanisms of psychopathology. © 2016 Association for Child and Adolescent Mental Health.

Detecting feigned postconcussional and posttraumatic stress symptoms with the structured inventory of malingered symptomatology (SIMS).

PubMed

Parks, Adam C; Gfeller, Jeffrey; Emmert, Natalie; Lammert, Hannah

2017-01-01

The Structured Inventory of Malingered Symptomatology (SIMS) is a standalone symptom validity test (SVT) designed as a screening measure to detect a variety of exaggerated psychological symptoms. A number of studies have explored the accuracy of the SIMS in litigious and clinical populations, yet few have examined the validity of the SIMS in detecting feigned symptoms of postconcussional disorder (PCD) and posttraumatic stress disorder (PTSD). The present study examined the sensitivity of the SIMS in detecting undergraduate simulators (N = 78) feigning symptoms of PCD, PTSD, and the comorbid presentation of both PCD and PTSD symptomatologies. Overall, the SIMS Total score produced the highest sensitivities for the PCD symptoms and PCD+PTSD symptoms groups (.89 and .85, respectively), and to a lesser extent, the PTSD symptoms group (.69). The Affective Disorders (AF) subscale was most sensitive to the PTSD symptoms group compared to the PCD and PCD+PTSD symptoms groups. Additional sensitivity values are presented and examined at multiple scale cutoff scores. These findings support the use of the SIMS as a SVT screening measure for PCD and PTSD symptom exaggeration in neuropsychological assessment.

The neuropathology, medical management and dental implications of autism.

PubMed

Friedlander, Arthur H; Yagiela, John A; Paterno, Victoria I; Mahler, Michael E

2006-11-01

A paucity of information exists in the dental literature about autism and its dental implications. The authors conducted a MEDLINE search for the period 2000 through 2006, using the term "autism," with the aim of defining the condition's clinical manifestations, dental and medical treatment and dental implications. Autism is a severe developmental brain disorder that appears in infancy, persists throughout life, and is characterized by impaired social interaction, abnormalities in communication (both verbal and nonverbal) and restricted interests. Often accompanying the disorder are behavioral disturbances - such as self-mutilation, aggression, psychiatric symptoms and seizures - that necessitate the administration of multiple medications to help the affected person participate effectively in the educational and rehabilitative process. Dentists caring for people with autism must be familiar with the manifestations of the disease and its associated features so that they can garner the maximum level of patient cooperation. They also must be familiar with the medications used to treat the associated features of the disorder because many of them cause untoward orofacial and systemic reactions and may precipitate adverse interactions with dental therapeutic agents.

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

PubMed Central

Francis, S.M.; Sagar, A.; Levin-Decanini, T.; Liu, W.; Carter, C.S.; Jacob, S.

2015-01-01

Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader–Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD. PMID:24462936

[Restless Legs Syndrome : A Threat to the quality of life].

PubMed

Castaño-Cárcamo, Mauricio; Escobar-Cordoba, Franklin; Rey de Castro, Jorge

2014-01-01

Restless legs syndrome is a disorder associated with the imperative need to move the legs, starting at different times of day and it gets worse at night, relieved by activity, affecting the quality of life and sleep who sufferers it. Despite being a common disorder at any age, in adults with a prevalence of up to 10%, is not diagnosed by doctors and first level specialists that is why diagnostic and therapeutic interventions get delayed contributing to the perpetuation of symptoms and worsening quality of life. Since its diagnosis is purely clinical, getting familiar with this disorder is essential to ensure proper focus and thus rule out other diseases commonly confused with this one. Restless legs syndrome has a multi-factorial etiology that ranges from a genetic and hereditary, which are called primary restless legs syndrome, to its association with multiple pathologies, known as secondary restless legs syndrome. As for its management, drug therapy and non-drug therapy is aimed at symptom control, as its cure is not possible, although occasionally the condition can refer to later repeat in months or years.

Anal Disorders - Multiple Languages

MedlinePlus

... List of All Topics All Anal Disorders - Multiple Languages To use the sharing features on this page, please enable JavaScript. French (français) ... Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health Page last updated on 3 May 2018

Emerging therapies for mitochondrial disorders

PubMed Central

Nightingale, Helen; Pfeffer, Gerald; Bargiela, David; Horvath, Rita

2016-01-01

Abstract Mitochondrial disorders are a diverse group of debilitating conditions resulting from nuclear and mitochondrial DNA mutations that affect multiple organs, often including the central and peripheral nervous system. Despite major advances in our understanding of the molecular mechanisms, effective treatments have not been forthcoming. For over five decades patients have been treated with different vitamins, co-factors and nutritional supplements, but with no proven benefit. There is therefore a clear need for a new approach. Several new strategies have been proposed acting at the molecular or cellular level. Whilst many show promise in vitro, the clinical potential of some is questionable. Here we critically appraise the most promising preclinical developments, placing the greatest emphasis on diseases caused by mitochondrial DNA mutations. With new animal and cellular models, longitudinal deep phenotyping in large patient cohorts, and growing interest from the pharmaceutical industry, the field is poised to make a breakthrough. PMID:27190030

A practical guide to diagnostic transcranial magnetic stimulation: Report of an IFCN committee

PubMed Central

Groppa, S.; Oliviero, A.; Eisen, A.; Quartarone, A.; Cohen, L.G.; Mall, V.; Kaelin-Lang, A.; Mima, T.; Rossi, S.; Thickbroom, G.W.; Rossini, P.M.; Ziemann, U.; Valls-Solé, J.; Siebner, H.R.

2016-01-01

Transcranial magnetic stimulation (TMS) is an established neurophysiological tool to examine the integrity of the fast-conducting corticomotor pathways in a wide range of diseases associated with motor dysfunction. This includes but is not limited to patients with multiple sclerosis, amyotrophic lateral sclerosis, stroke, movement disorders, disorders affecting the spinal cord, facial and other cranial nerves. These guidelines cover practical aspects of TMS in a clinical setting. We first discuss the technical and physiological aspects of TMS that are relevant for the diagnostic use of TMS. We then lay out the general principles that apply to a standardized clinical examination of the fast-conducting corticomotor pathways with single-pulse TMS. This is followed by a detailed description of how to examine corticomotor conduction to the hand, leg, trunk and facial muscles in patients. Additional sections cover safety issues, the triple stimulation technique, and neuropediatric aspects of TMS. PMID:22349304

Genetic and epigenetic regulatory mechanisms of the oxytocin receptor gene (OXTR) and the (clinical) implications for social behavior.

PubMed

Tops, Sanne; Habel, Ute; Radke, Sina

2018-03-12

Oxytocin and the oxytocin receptor (OXTR) play an important role in a large variety of social behaviors. The oxytocinergic system interacts with environmental cues and is highly dependent on interindividual factors. Deficits in this system have been linked to mental disorders associated with social impairments, such as autism spectrum disorder (ASD). This review focuses on the modulation of social behavior by alterations in two domains of the oxytocinergic system. We discuss genetic and epigenetic regulatory mechanisms and alterations in these mechanisms that were found to have clinical implications for ASD. We propose possible explanations how these alterations affect the biological pathways underlying the aberrant social behavior and point out avenues for future research. We advocate the need for integration studies that combine multiple measures covering a broad range of social behaviors and link these to genetic and epigenetic profiles. Copyright © 2018. Published by Elsevier Inc.

Intelligent Interfaces to Empower People with Disabilities

NASA Astrophysics Data System (ADS)

Betke, Margrit

Severe motion impairments can result from non-progressive disorders, such as cerebral palsy, or degenerative neurological diseases, such as Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), or muscular dystrophy (MD). They can be due to traumatic brain injuries, for example, due to a traffic accident, or to brainstem strokes [9, 84]. Worldwide, these disorders affect millions of individuals of all races and ethnic backgrounds [4, 75, 52]. Because disease onset of MS and ALS typically occurs in adulthood, afflicted people are usually computer literate. Intelligent interfaces can immensely improve their daily lives by allowing them to communicate and participate in the information society, for example, by browsing the web, posting messages, or emailing friends. However, people with advanced ALS, MS, or MD may reach a point when they cannot control the keyboard and mouse anymore and also cannot rely on automated voice recognition because their speech has become slurred.

Pharmacological Alternatives for the Treatment of Neurodegenerative Disorders: Wasp and Bee Venoms and Their Components as New Neuroactive Tools

PubMed Central

Silva, Juliana; Monge-Fuentes, Victoria; Gomes, Flávia; Lopes, Kamila; dos Anjos, Lilian; Campos, Gabriel; Arenas, Claudia; Biolchi, Andréia; Gonçalves, Jacqueline; Galante, Priscilla; Campos, Leandro; Mortari, Márcia

2015-01-01

Neurodegenerative diseases are relentlessly progressive, severely impacting affected patients, families and society as a whole. Increased life expectancy has made these diseases more common worldwide. Unfortunately, available drugs have insufficient therapeutic effects on many subtypes of these intractable diseases, and adverse effects hamper continued treatment. Wasp and bee venoms and their components are potential means of managing or reducing these effects and provide new alternatives for the control of neurodegenerative diseases. These venoms and their components are well-known and irrefutable sources of neuroprotectors or neuromodulators. In this respect, the present study reviews our current understanding of the mechanisms of action and future prospects regarding the use of new drugs derived from wasp and bee venom in the treatment of major neurodegenerative disorders, including Alzheimer’s Disease, Parkinson’s Disease, Epilepsy, Multiple Sclerosis and Amyotrophic Lateral Sclerosis. PMID:26295258

Metaphyseal chondrodysplasia.

PubMed Central

Spranger, J. W.

1977-01-01

Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:335375

Understanding and managing sleep disruption in children with fetal alcohol spectrum disorder.

PubMed

Hanlon-Dearman, Ana; Chen, Maida Lynn; Olson, Heather Carmichael

2018-04-01

Accumulating evidence has revealed high rates of sleep disruption among children with fetal alcohol spectrum disorder (FASD). Multiple animal and clinical studies have found a clear association between sleep problems and prenatal alcohol exposure, and recent research is beginning to characterize the types and extent of sleep disruption in FASD. Nevertheless, sleep disruption in children with FASD often goes unrecognized or is treated without referring to an evidence base. Children's disrupted sleep interferes with parental sleep and increases caregiver burden, which is of particular importance for families raising children with FASD, a group with very high levels of caregiving stress. The literature supporting an association between sleep problems and deficits in emotional, behavioral, and cognitive function in children is compelling, but needs further investigation in children with FASD. This paper will review the current state of knowledge on sleep in FASD and recommend a rational approach to sleep interventions for affected children and their families.

Ad lib smoking in post-traumatic stress disorder: an electronic diary study.

PubMed

Beckham, Jean C; Wiley, Matthew T; Miller, Susannah C; Dennis, Michelle F; Wilson, Sarah M; McClernon, F Joseph; Calhoun, Patrick S

2008-07-01

Using ambulatory methods for 1 week of monitoring, this study investigated the association between smoking and situational cues in 22 smokers with post-traumatic stress disorder (PTSD) and 23 smokers without PTSD. Generalized estimating equations contrasted 1,759 smoking and 1,088 nonsmoking situations by group status controlling for multiple covariates. PTSD smokers reported higher stress and PTSD symptoms across daily activities. For all smokers, higher nicotine dependence, craving, food and caffeine consumption, and being outside were related to smoking. PTSD smokers were more likely to smoke when experiencing PTSD symptoms, anxiety, and stress. Following smoking, smokers with PTSD reported a significant reduction in negative affect. These results are consistent with previous ambulatory findings regarding mood in smokers, and underscore that in smokers with PTSD, PTSD symptom variables as well as stress and anxiety are significantly associated with ad lib smoking.

Personalized nutrition and obesity.

PubMed

Qi, Lu

2014-08-01

The past few decades have witnessed a rapid rise in nutrition-related disorders such as obesity in the United States and over the world. Traditional nutrition research has associated various foods and nutrients with obesity. Recent advances in genomics have led to identification of the genetic variants determining body weight and related dietary factors such as intakes of energy and macronutrients. In addition, compelling evidence has lent support to interactions between genetic variations and dietary factors in relation to obesity and weight change. Moreover, recently emerging data from other 'omics' studies such as epigenomics and metabolomics suggest that more complex interplays between the global features of human body and dietary factors may exist at multiple tiers in affecting individuals' susceptibility to obesity; and a concept of 'personalized nutrition' has been proposed to integrate this novel knowledge with traditional nutrition research, with the hope ultimately to endorse person-centric diet intervention to mitigate obesity and related disorders.

Personalized nutrition and obesity

PubMed Central

Qi, Lu

2017-01-01

The past few decades have witnessed a rapid rise in nutrition-related disorders such as obesity in the United States and over the world. Traditional nutrition research has associated various foods and nutrients with obesity. Recent advances in genomics have led to identification of the genetic variants determining body weight and related dietary factors such as intakes of energy and macronutrients. In addition, compelling evidence has lent support to interactions between genetic variations and dietary factors in relation to obesity and weight change. Moreover, recently emerging data from other ‘omics’ studies such as epigenomics and metabolomics suggest that more complex interplays between the global features of human body and dietary factors may exist at multiple tiers in affecting individuals’ susceptibility to obesity; and a concept of ‘personalized nutrition’ has been proposed to integrate this novel knowledge with traditional nutrition research, with the hope ultimately to endorse person-centric diet intervention to mitigate obesity and related disorders. PMID:24716734

A random walk model to evaluate autism

NASA Astrophysics Data System (ADS)

Moura, T. R. S.; Fulco, U. L.; Albuquerque, E. L.

2018-02-01

A common test administered during neurological examination in children is the analysis of their social communication and interaction across multiple contexts, including repetitive patterns of behavior. Poor performance may be associated with neurological conditions characterized by impairments in executive function, such as the so-called pervasive developmental disorders (PDDs), a particular condition of the autism spectrum disorders (ASDs). Inspired in these diagnosis tools, mainly those related to repetitive movements and behaviors, we studied here how the diffusion regimes of two discrete-time random walkers, mimicking the lack of social interaction and restricted interests developed for children with PDDs, are affected. Our model, which is based on the so-called elephant random walk (ERW) approach, consider that one of the random walker can learn and imitate the microscopic behavior of the other with probability f (1 - f otherwise). The diffusion regimes, measured by the Hurst exponent (H), is then obtained, whose changes may indicate a different degree of autism.

Velo-Cardio-Facial Syndrome: 30 Years of Study

PubMed Central

Shprintzen, Robert J.

2009-01-01

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

[Dissociative disorders and affective disorders].

PubMed

Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M

2014-12-01

The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

PubMed

Onodera, Shoko; Saito, Akiko; Hasegawa, Daigo; Morita, Nana; Watanabe, Katsuhito; Nomura, Takeshi; Shibahara, Takahiko; Ohba, Shinsuke; Yamaguchi, Akira; Azuma, Toshifumi

2017-01-01

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported. Recently, mutations in Suppressor of fused homolog (SUFU) or PTCH2 were reported in patients with Gorlin syndrome. These facts suggest that multi-layered mutations in Hh pathway may contribute to the development of Gorlin syndrome. We demonstrated multiple mutations of Hh-related genes in addition to PTCH1, which possibly act in an additive or multiplicative manner and lead to Gorlin syndrome. High-throughput sequencing was performed to analyze exome sequences in four unrelated Gorlin syndrome patient genomes. Mutations in PTCH1 gene were detected in all four patients. Specific nucleotide variations or frameshift variations of PTCH1 were identified along with the inferred amino acid changes in all patients. We further filtered 84 different genes which are closely related to Hh signaling. Fifty three of these had enough coverage of over ×30. The sequencing results were filtered and compared to reduce the number of sequence variants identified in each of the affected individuals. We discovered three genes, PTCH2, BOC, and WNT9b, with mutations with a predicted functional impact assessed by MutationTaster2 or PolyPhen-2 (Polymorphism Phenotyping v2) analysis. It is noticeable that PTCH2 and BOC are Hh receptor molecules. No significant mutations were observed in SUFU. Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.

Tourette Syndrome: Information for School Nurses

ERIC Educational Resources Information Center

Golder, Tracy

2010-01-01

Tourette syndrome (TS) is a neurobehavioral disorder that consists of simple and complex tics. This disorder can significantly affect a child's self-esteem and academic success. Although some believe that only adults are affected, this disorder occurs most frequently in early childhood and symptoms decrease with age. Diagnosis of this disorder can…

The BDNF Val66Met polymorphism: relation to familiar risk of affective disorder, BDNF levels and salivary cortisol.

PubMed

Vinberg, Maj; Trajkovska, Viktorija; Bennike, Bente; Knorr, Ulla; Knudsen, Gitte M; Kessing, Lars V

2009-10-01

Brain-derived neurotrophic factor (BDNF) and the hypothalamic-pituitary-adrenal (HPA) axis are considered to play an important role in the pathophysiology of affective disorders. The aim of the present study was to investigate whether the BDNF Val66Met polymorphism is associated with a familiar risk of affective disorder and whether these genotypes affect whole blood BDNF level and salivary cortisol. In a high-risk study, healthy monozygotic and dizygotic twins with and without a co-twin (high- and low-risk twins, respectively) history of affective disorder were identified through nationwide registers. Familiar predisposition to unipolar and bipolar disorder was not associated with any specific genotype pattern of the BDNF Val66Met polymorphism, not in this sample of 124 val/val, 58 val/met and 8 met/met individuals. However, the combination of having a high familiar risk of affective disorder and the met allele was associated with a higher whole blood BDNF (p=0.02) and a higher evening cortisol level (p=0.01), but not with awakening cortisol. Individuals at high risk of affective disorders and who are carriers of the met allele of the Val66Met polymorphism may present with an enhanced stress response. The presence of a specific genotype alone may not enhance the risk of developing an affective episode. Rather, the altered stress response may be expressed only in combination with other risk variants through interactions with the environment.

The influence of current mood state, number of previous affective episodes and predominant polarity on insight in bipolar disorder.

PubMed

de Assis da Silva, Rafael; Mograbi, Daniel C; Camelo, Evelyn Vieira Miranda; Peixoto, Ursula; Santana, Cristina Maria Teixeira; Landeira-Fernandez, Jesus; Morris, Robin G; Cheniaux, Elie

2017-11-01

Although many studies have explored the effect of current affective episodes on insight into bipolar disorder, the potential interaction between current mood state and previous affective episodes has not been consistently investigated. To explore the influence of dominant polarity, number of previous affective episodes and current affective state on insight in bipolar disorder patients in euthymia or mania. A total of 101 patients with bipolar disorder were recruited for the study, including 58 patients in euthymia (30 with no defined predominant polarity and 28 with manic predominant polarity) and 43 in mania (26 with no defined predominant polarity and 17 with manic predominant polarity). Patients underwent a clinical assessment and insight was evaluated through the Insight Scale for Affective Disorders. Bipolar disorder patients in mania had worse insight than those in euthymia, with no effect of dominant polarity. In addition, positive psychotic symptoms showed a significant effect on insight and its inclusion as a covariate eliminated differences related to mood state. Finally, the number of previous manic or depressive episodes did not correlate with insight level. Mania is a predictor of loss of insight into bipolar disorder. However, it is possible that its contribution is linked to the more frequent presence of psychotic symptoms in this state. Dominant polarity and number/type of previous affective episodes have a limited impact on insight.

Online social networking addiction among college students in Singapore: Comorbidity with behavioral addiction and affective disorder.

PubMed

Tang, Catherine So-Kum; Koh, Yvaine Yee Woen

2017-02-01

This study aimed to determine the prevalence of addiction to social networking sites/platforms (SNS) and its comorbidity with other behavioral addiction and affective disorder among college students in Singapore. 1110 college students (age: M=21.46, SD=1.80) in Singapore completed measures assessing online social networking, unhealthy food intake and shopping addiction as well as depression, anxiety and mania. Descriptive analyses were conducted to investigate the prevalence and comorbidity of behavioral addiction and affective disorder. Chi-square tests were used to examine gender differences. The prevalence rates of SNS, food and shopping addiction were 29.5%, 4.7% and 9.3% respectively for the total sample. SNS addiction was found to co-occur with food addiction (3%), shopping addiction (5%), and both food and shopping addiction (1%). The comorbidity rates of SNS addiction and affective disorder were 21% for depression, 27.7% for anxiety, and 26.1% for mania. Compared with the total sample, students with SNS addiction reported higher comorbidity rates with other behavioral addiction and affective disorder. In general, females as compared to males reported higher comorbidity rates of SNS addiction and affective disorder. SNS addiction has a high prevalence rate among college students in Singapore. Students with SNS addiction were vulnerable to experience other behavior addiction as well as affective disorder, especially among females. Copyright © 2016. Published by Elsevier B.V.

An unusual surgical indication for cerebral tuberculosis: status dystonicus. Case report.

PubMed

Franzini, Andrea; Franzini, Angelo; Levi, Vincenzo; Cordella, Roberto; Messina, Giuseppe

2018-05-15

Actual indications for surgery in tuberculosis are limited to obtaining a diagnosis, acquiring tissue for culture studies, treating hydrocephalus, aspiring a brain abscess, and reducing intracranial pressure in patients with multiple tuberculomas. Tuberculosis-related movement disorders are usually treated pharmacologically. We report on a child affected by post-tubercular generalized dystonia, who progressed to status dystonicus (SD) and underwent stereotactic bilateral pallidotomy. After surgery, SD resolved, and drugs were rapidly tapered. The successful reversal of SD and the motor improvement observed in our patient demonstrate the safety, feasibility, and clinical efficacy of pallidotomy in post-tuberculous-meningoencephalitis dystonia and SD.

Refeeding syndrome.

PubMed

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

Human genetic variation and the gut microbiome in disease.

PubMed

Hall, Andrew Brantley; Tolonen, Andrew C; Xavier, Ramnik J

2017-11-01

Taxonomic and functional changes to the composition of the gut microbiome have been implicated in multiple human diseases. Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome. Although many factors can affect the microbial organisms residing in the gut, a number of recent findings support the hypothesis that certain host genetic variants predispose an individual towards microbiome dysbiosis. This condition, in which the normal microbiome population structure is disturbed, is a key feature in disorders of metabolism and immunity.

Pearson disease in an infant presenting with severe hypoplastic anemia, normal pancreatic function, and progressive liver failure.

PubMed

Shapira, Adi; Konopnicki, Muriel; Hammad-Saied, Mohammed; Shabad, Evelyn

2014-07-01

Pearson disease is a rare, usually fatal, mitochondrial disorder affecting primarily the bone marrow and the exocrine pancreas. We report a previously healthy 10-week-old girl who presented with profound macrocytic anemia followed by pancytopenia, synthetic liver dysfunction with liver steatosis, and metabolic acidosis with high lactate levels. She had no pancreatic involvement. Multiple cytoplasmic vacuoles in myelocytes and monocytes were seen upon microscopic evaluation of the bone marrow. Genetic analysis of the mitochondrial genome revealed a 5 kbp deletion, thus establishing the diagnosis of Pearson disease.

[Microbiota and autoimmunity].

PubMed

Miyake, Sachiko

2014-01-01

The microbiota plays a fundamental role in the development and the maintenance of the host immune system. Since microbiota is important in the induction and the expansion of Th17 cells and regulatory T cells, growing evidence supports that microbiome affect the induction and the disease course of autoimmune disorders. In this review, we describe the recent studies on the involvement of microbes in animal models of autoimmune diseases such as rheumatoid arthritis (RA) and multiple sclerosis (MS) using germ-free conditions, antibiotics treatment and gnotobiotic mice. Furthermore, we introduce the studies on analysis of microbiota in human autoimmune diseases including RA and MS.

The Influence of the Menstrual Cycle on Lithium and Sertraline Blood Levels

ClinicalTrials.gov

2017-02-17

Bipolar Affective Disorders; Cyclothymic Disorder; Schizoaffective Disorder; Major Depressive Disorder; Dysthymic Disorder; Obsessive-Compulsive Disorder; Panic Disorder; Posttraumatic Stress Disorder; Premenstrual Dysphoric Disorder; Social Anxiety Disorder

Coexistence of multiple sclerosis and ankylosing spondylitis: Report of four cases from Russia and review of the literature.

PubMed

Fominykh, Vera; Shevtsova, Tatyana; Arzumanian, Narine; Brylev, Lev

2017-10-01

Multiple sclerosis is a chronic demyelinating disorder of the central nervous system. There are many cases of multiple sclerosis - like syndrome and demyelinating disorders in systemic lupus erythematosus, Sjogren disease, Behcet disease and other autoimmune conditions. Coexistence of ankylosing spondylitis and multiple sclerosis usually is rare but in this article we report 4 Russian patients with concomitant multiple sclerosis and ankylosing spondylitis diseases. None of these patients received anti-tumor necrosis factor alpha therapy prior to diagnosis of multiple sclerosis. Pathogenesis, diagnostic and treatment challenges are discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Bisphenol A (BPA) aggravates multiple low-dose streptozotocin-induced Type 1 diabetes in C57BL/6 mice.

PubMed

Cetkovic-Cvrlje, Marina; Thinamany, Sinduja; Bruner, Kylie A

2017-12-01

Type 1 diabetes (T1D) is a T-cell-mediated autoimmune disorder characterized by destruction of insulin-producing pancreatic β-cells. Whereas epidemiological data implicate environmental factors in the increasing incidence of T1D, their identity remains unknown. Though exposure to bisphenol A (BPA) has been associated with several disorders, no epidemiologic evidence has linked BPA exposure and T1D. The goal of this study was to elucidate diabetogenic potentials of BPA and underlying mechanisms in the context of T-cell immunity, in a multiple low-dose streptozotocin (MLDSTZ)-induced autoimmune mouse T1D model. C57BL/6 mice were orally exposed to 1 or 10 mg BPA/L starting at 4 wk of age; diabetes was induced at 9 wk of age with STZ. T-cell composition, function, and insulitis levels were studied at Days 11 and 50 during diabetes development (i.e. post-first STZ injection). Results showed both BPA doses increased diabetes incidence and affected T-cell immunity. However, mechanisms of diabetogenic action appeared divergent based on dose. Low-dose BPA fits a profile of an agent that exhibits pro-diabetogenic effects via T-cell immunomodulation in the early stages of disease development, i.e. decreases in splenic T-cell subpopulations [especially CD4 + T-cells] along with a trend in elevation of splenic T-cell formation of pro-inflammatory cytokines (IFN-γ, TNF-α, and IL-6). In contrast, high-dose BPA did not affect T-cell populations and led to decreased levels of IFN-γ and TNF-α. Both treatments did not affect insulitis levels at the disease early stage, but aggravated it later on. By the study end, besides decreasing T-cell proliferative capacity, low-dose BPA did not affect other T-cell-related parameters, including cytokine secretion, comparable to the effects of high-dose BPA. In conclusion, this study confirmed BPA as a potential diabetogenic compound with immunomodulatory mechanisms of action - in the context of T-cell immunity - that seemed to be dose dependent in the early immunopathogenesis of a MLDSTZ-induced model of T1D.