Information about children reported to have ever been diagnosed with four different neurodevelopmental disorders: attention-deficit/hyperactivity disorder (ADHD), learning disabilities, autism, and intellectual disability.
Full Text Available BackgroundEarly detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children.MethodsThe experimental group consisted of 19 children aged 5–6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives. The control group comprised 19 nursery school children aged 5–6 years with no postural defects, no history of postural control or movement deficits, and no physiotherapy interventions in the first year of their lives. Step initiation was performed on force platforms under various conditions, i.e., with and without an obstacle, stepping up onto a platform placed at a higher level, stepping down onto a platform placed on a lower level. The recording of center of foot pressure (COP displacements was divided into three phases: phase 1 (P1—quiet standing before step initiation, phase 2 (P2—transit, phase 3 (P3—quiet standing until measurement completion.ResultsThe Tukey post hoc test showed that the means of sway range (raCOP and mean velocity (vCOP in sagittal (AP plane for phase 1 and vCOP in frontal (ML plane for phase 3 registered in the step-up trial were significantly higher (p < 0.05 in children with faulty posture compared to children with typical development. P1vCOPML, P3vCOPAP, P3raCOPML, and P3vCOPMLof the step-down trial were also significantly higher in children with faulty posture (p < 0.05.ConclusionInclusion of functional movement exercises (stair-walking tasks in physiotherapy interventions for children with postural defects seems well justified.The trial was registered in the Australian and New Zealand Clinical Trials
Esbensen, Anna J; Schwichtenberg, Amy J
Individuals with intellectual and developmental disabilities (IDD) experience sleep problems at higher rates than the general population. Although individuals with IDD are a heterogeneous group, several sleep problems cluster within genetic syndromes or disorders. This review summarizes the prevalence of sleep problems experienced by individuals with Angelman syndrome, Cornelia de Lange syndrome, Cri du Chat syndrome, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Williams syndrome, autism spectrum disorder, and idiopathic IDD. Factors associated with sleep problems and the evidence for sleep treatments are reviewed for each neurodevelopmental disorder. Sleep research advancements in neurodevelopmental disorders are reviewed, including the need for consistency in defining and measuring sleep problems, considerations for research design and reporting of results, and considerations when evaluating sleep treatments. PMID:28503406
Di Pietro, Nina C; Whiteley, Louise Emma; Mizgalewicz, Ania
The Internet is a major source of health-related information for parents of sick children despite concerns surrounding quality. For neurodevelopmental disorders, the websites of advocacy groups are a largely unexamined source of information. We evaluated treatment information posted on nine highly......-trafficked advocacy websites for autism, cerebral palsy, and fetal alcohol spectrum disorder. We found that the majority of claims about treatment safety and efficacy were unsubstantiated. Instead, a range of rhetorical strategies were used to imply scientific support. When peer-reviewed publications were cited, 20...... % were incorrect or irrelevant. We call for new partnerships between advocacy and experts in developmental disorders to ensure better accuracy and higher transparency about how treatment information is selected and evidenced on advocacy websites....
Ehninger, Dan; Li, Weidong; Fox, Kevin; Stryker, Michael P; Silva, Alcino J
.... Surprisingly, a number of recent animal model studies of neurodevelopmental disorders demonstrate that reversing the underlying molecular deficits can result in substantial improvements in function...
Reijnders, Margot R F; Leventer, Richard J; Lee, Boo Hon; Baralle, Diana; Selber, Paulo; Paciorkowski, Alex R; Hunt, David
Clinical characteristics. PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of PURA. PURA-related neurodevelopmental disorders are characterized by moderate to severe neurodevelopmental delay with absence of speech in most and lack of independent ambulation in many. Early-onset problems can include hypotonia, hypothermia, hyper...
Lance, Eboni I; Shapiro, Bruce K
We report the case of a school-age child with a history of hearing loss presenting with staring spells. Electroencephalography (EEG) revealed a pattern consistent with absence epilepsy, and the patient was started on antiepileptic medication with decreased frequency of staring spells but he then continued to have behavioral issues. The patient was diagnosed subsequently with combined-type attention-deficit hyperactivity disorder (ADHD) and started on stimulant medication with subsequent improvement in attention and school performance. Multiple confounding diagnoses are common in children with neurodevelopmental disabilities, and comprehensive evaluation is required for appropriate management.
Berry-Kravis, Elizabeth M; Lindemann, Lothar; Jønch, Aia E
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene...
There is a close relationship between sleep and childhood neurodevelopmental/neurodegenerative disorders. Understanding the sleep issues may provide greater insight into pathophysiology and treatment of these disorders. Copyright © 2015 Elsevier Inc. All rights reserved.
Wetmore, Daniel Z; Garner, Craig C
A growing and interdisciplinary translational neuroscience research effort for neurodevelopmental disorders (NDDs) is investigating the mechanisms of dysfunction and testing effective treatment strategies in animal models and, when possible, in the clinic. NDDs with a genetic basis have received particular attention. Transgenic animals that mimic genetic insults responsible for disease in man have provided insight about mechanisms of dysfunction, and, surprisingly, have shown that cognitive deficits can be addressed in adult animals. This review will present recent translational research based on animal models of genetic NDDs, as well as pharmacotherapeutic strategies under development to address deficits of brain function for Down syndrome, fragile X syndrome, Rett syndrome, neurofibromatosis-1, tuberous sclerosis, and autism. Although these disorders vary in underlying causes and clinical presentation, common pathways and mechanisms for dysfunction have been observed. These include abnormal gene dosage, imbalance among neurotransmitter systems, and deficits in the development, maintenance and plasticity of neuronal circuits. NDDs affect multiple brain systems and behaviors that may be amenable to drug therapies that target distinct deficits. A primary goal of translational research is to replace symptomatic and supportive drug therapies with pharmacotherapies based on a principled understanding of the causes of dysfunction. Based on this principle, several recently developed therapeutic strategies offer clear promise for clinical development in man.
Although antisocial personality disorder (APD) is one of the most researched personality disorders, it is still surprisingly resistant to treatment. This lack of clinical progress may be partly due to the failure to view APD as a neurodevelopmental disorder and to consider early interventions. After first defining what constitutes a neurodevelopmental disorder, this review evaluates the extent to which APD meets neurodevelopmental criteria, covering structural and functional brain imaging, neurocognition, genetics and epigenetics, neurochemistry, and early health risk factors. Prevention and intervention strategies for APD are then outlined, focusing on addressing early biological and health systems, followed by forensic and clinical implications. It is argued both that APD meets criteria for consideration as a neurodevelopmental disorder and that consideration should be given both to the possibility that early onset conduct disorder is neurodevelopmental in nature, and also to the inclusion of psychopathy as a specifier in future Diagnostic and Statistical Manual revisions of APD. Expected final online publication date for the Annual Review of Clinical Psychology Volume 14 is May 7, 2018. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
Decker, Scott L.
The role of school psychologists with training in neuropsychology is examined within the context of multitiered models of service delivery and educational reform policies. An expanded role is suggested that builds on expertise in the assessment of neurodevelopmental disorders and extends to broader tiers through consultation practice. Changes in…
Gatto, Cheryl L.; Broadie, Kendal
Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advance...
. Amongst DSM's most vocal 'insider' critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM's adherence to a symptom-based classification of mental disorder, and used the weight ...
Full Text Available Methylation of several lysine residues of histones is a crucial mechanism for relatively long-term regulation of genomic activity. Recent molecular biological studies have demonstrated that the function of histone methylation is more diverse and complex than previously thought. Moreover, studies using newly available genomics techniques, such as exome sequencing, have identified an increasing number of histone lysine methylation-related genes as intellectual disability-associated genes, which highlights the importance of accurate control of histone methylation during neurogenesis. However, given the functional diversity and complexity of histone methylation within the cell, the study of the molecular basis of histone methylation-related neurodevelopmental disorders is currently still in its infancy. Here, we review the latest studies that revealed the pathological implications of alterations in histone methylation status in the context of various neurodevelopmental disorders and propose possible therapeutic application of epigenetic compounds regulating histone methylation status for the treatment of these diseases.
Stoodley, Catherine J.
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
Stoodley, Catherine J
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.
Gatto, Cheryl L; Broadie, Kendal
Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advanced our understanding of UBE3A, MECP2, NF1 and FMR1 function, respectively, in genetic, biochemical, anatomical, physiological and behavioral contexts. Investigations in Drosophila continue to provide the essential mechanistic understanding required to facilitate the conception of rational therapeutic treatments. Copyright © 2011 Elsevier Ltd. All rights reserved.
Wentz, Elisabet; Björk, Anna; Dahlgren, Jovanna
To investigate prevalence of neurodevelopmental disorders in children with obesity and to compare body mass index (BMI) and metabolic profile in the children. Seventy-six children (37 girls, 39 boys) were consecutively recruited from a university outpatient clinic specialized in severe obesity. Neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental coordination disorder (DCD) were assessed using interviews and questionnaires. Neurodevelopmental diagnoses were collected retrospectively in medical records. BMI ranged between 1.9 and 5.9 SDS and age between 5.1 and 16.5 years. In 13.2% and 18.4% ASD and ADHD was assigned, respectively. In addition, 25% screened positive for DCD, 31.6% had at least one neurodevelopmental disorder, and 18.4% had a parent who screened positive for adult ADHD. Girls with ASD/ADHD had higher BMI SDS than girls without neurodevelopmental disorder (P = 0.006). One third of children with obesity referred to specialist centers have a neurodevelopmental disorder including deviant motor skills, and these problems may deteriorate weight status. One fifth of the parents exhibit ADHD symptomatology which could partly explain the poor adherence by some families in obesity units. Future obesity therapy could benefit from incorporating a neurodevelopmental treatment approach. © 2016 The Obesity Society.
Bishop, Dorothy V M
There are substantial differences in the amount of research concerned with different disorders. This paper considers why. Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived. The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe. Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.
Dorothy V M Bishop
Full Text Available There are substantial differences in the amount of research concerned with different disorders. This paper considers why.Bibliographic searches were conducted to identify publications (1985-2009 concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived.The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe.Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.
Full Text Available Complex Neurodevelopmental disorders NDDs exhibit complex etiological and genetic features and the mutations have a fundamental role in this complexity including common polymorphisms and rare variations in a single gene or cluster of genes. The analysis of complex NDDs have shown that the genetics has the major role in causation of such complex diseases. Interestingly both mutations and polymorphisms are involved occurring in a single gene or clusters of genes. Likewise a single gene variation may also be involved in multiple neurological disorders making the diagnosis of neurological diseases more difficult. Many candidate genes and chromosomal regions have been identified that are widely involved in neurological symptoms which necessitates the genotypic approach for describing the phenotype.
Livingston, Lucy Anne; Happé, Francesca
Within research into neurodevelopmental disorders, little is known about the mechanisms underpinning changes in symptom severity across development. When the behavioural presentation of a condition improves/symptoms lessen, this may be because core underlying atypicalities in cognition/neural function have ameliorated. An alternative possibility is 'compensation'; that the behavioural presentation appears improved, despite persisting deficits at cognitive and/or neurobiological levels. There is, however, currently no agreed technical definition of compensation or its behavioural, cognitive and neural characteristics. Furthermore, its workings in neurodevelopmental disorders have not been studied directly. Here, we review current evidence for compensation in neurodevelopmental disorders, using Autism Spectrum Disorder as an example, in order to move towards a better conceptualisation of the construct. We propose a transdiagnostic framework, where compensation represents the processes responsible for an observed mismatch between behaviour and underlying cognition in a neurodevelopmental disorder, at any point in development. Further, we explore potential cognitive and neural mechanisms driving compensation and discuss the broader relevance of the concept within research and clinical settings. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.
Engbers, Hannelie M; Berger, Ruud; van Hasselt, Peter; de Koning, Tom; de Sain-van der Velden, Monique G M; Kroes, Hester Y; Visser, Gepke
The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients
John R. Kelly
Full Text Available Humans evolved within a microbial ecosystem resulting in an interlinked physiology. The gut microbiota can signal to the brain via the immune system, the vagus nerve or other host-microbe interactions facilitated by gut hormones, regulation of tryptophan metabolism and microbial metabolites such as short chain fatty acids (SCFA, to influence brain development, function and behavior. Emerging evidence suggests that the gut microbiota may play a role in shaping cognitive networks encompassing emotional and social domains in neurodevelopmental disorders. Drawing upon pre-clinical and clinical evidence, we review the potential role of the gut microbiota in the origins and development of social and emotional domains related to Autism spectrum disorders (ASD and schizophrenia. Small preliminary clinical studies have demonstrated gut microbiota alterations in both ASD and schizophrenia compared to healthy controls. However, we await the further development of mechanistic insights, together with large scale longitudinal clinical trials, that encompass a systems level dimensional approach, to investigate whether promising pre-clinical and initial clinical findings lead to clinical relevance.
Kelly, John R.; Minuto, Chiara; Cryan, John F.; Clarke, Gerard; Dinan, Timothy G.
Humans evolved within a microbial ecosystem resulting in an interlinked physiology. The gut microbiota can signal to the brain via the immune system, the vagus nerve or other host-microbe interactions facilitated by gut hormones, regulation of tryptophan metabolism and microbial metabolites such as short chain fatty acids (SCFA), to influence brain development, function and behavior. Emerging evidence suggests that the gut microbiota may play a role in shaping cognitive networks encompassing emotional and social domains in neurodevelopmental disorders. Drawing upon pre-clinical and clinical evidence, we review the potential role of the gut microbiota in the origins and development of social and emotional domains related to Autism spectrum disorders (ASD) and schizophrenia. Small preliminary clinical studies have demonstrated gut microbiota alterations in both ASD and schizophrenia compared to healthy controls. However, we await the further development of mechanistic insights, together with large scale longitudinal clinical trials, that encompass a systems level dimensional approach, to investigate whether promising pre-clinical and initial clinical findings lead to clinical relevance. PMID:28966571
Gillberg, I. Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher
We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had "never" met criteria for an additional psychiatric/neurodevelopmental diagnosis and…
Gillberg, I Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher
We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome. The minority of the AS group who no longer met criteria for a full diagnosis of an autism spectrum disorder were usually free of current psychiatric comorbidity. The high rate of psychiatric/neurodevelopmental comorbidities underscores the need for a full psychiatric/neurodevelopmental assessment at follow-up of males with AS.
De Theije, Caroline G M; Bavelaar, Bas M.; Lopes da Silva, Sofia; Korte, Sijmen Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D.
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in
Heussler, Helen S
Sleep disorders in individuals with developmental difficulties continue to be a significant challenge for families, carers, and therapists with a major impact on individuals and carers alike. This review is designed to update the reader on recent developments in this area. A systematic search identified a variety of studies illustrating advances in the regulation of circadian rhythm and sleep disturbance in neurodevelopmental disorders. Specific advances are likely to lead in some disorders to targeted therapies. There is strong evidence that behavioural and sleep hygiene measures should be first line therapy; however, studies are still limited in this area. Nonpharmacological measures such as exercise, sensory interventions, and behavioural are reported. Behavioural regulation and sleep hygiene demonstrate the best evidence for improved sleep parameters in individuals with neurodisability. Although the mainstay of management of children with sleep problems and neurodevelopmental disability is similar to that of typically developing children, there is emerging evidence of behavioural strategies being successful in large-scale trials and the promise of more targeted therapies for more specific resistant disorders.
Full Text Available GABAergic interneurons control neuronal excitability, integration, and plasticity. Further, they regulate the generation of temporal synchrony and oscillatory behavior among networks of pyramidal neurons. Such oscillations within and across neural systems are believed to serve various complex functions, such as perception, movement initiation, and memory. Alterations in the development of GABAergic circuits have been implicated in various brain diseases with neurodevelopmental origin. Here, we highlight recent studies suggesting a role for alterations of GABA transmission in the pathophysiology of two neurodevelopmental diseases, schizophrenia and autism. We further discuss how manipulations of GABA signaling may be used for novel therapeutic interventions.
Nguyen Quoc Vuong Tran
Full Text Available The increasing prevalence of neurodevelopmental disorders, especially autism spectrum disorders (ASD and attention deficit hyperactivity disorder (ADHD, calls for more research into the identification of etiologic and risk factors. The Developmental Origin of Health and Disease (DOHaD hypothesizes that the environment during fetal and childhood development affects the risk for many chronic diseases in later stages of life, including neurodevelopmental disorders. Epigenetics, a term describing mechanisms that cause changes in the chromosome state without affecting DNA sequences, is suggested to be the underlying mechanism, according to the DOHaD hypothesis. Moreover, many neurodevelopmental disorders are also related to epigenetic abnormalities. Experimental and epidemiological studies suggest that exposure to prenatal environmental toxicants is associated with neurodevelopmental disorders. In addition, there is also evidence that environmental toxicants can result in epigenetic alterations, notably DNA methylation. In this review, we first focus on the relationship between neurodevelopmental disorders and environmental toxicants, in particular maternal smoking, plastic-derived chemicals (bisphenol A and phthalates, persistent organic pollutants, and heavy metals. We then review studies showing the epigenetic effects of those environmental factors in humans that may affect normal neurodevelopment.
Hellmuth, S G; Pedersen, L H; Miltoft, C B
OBJECTIVE: To investigate the association between fetal nuchal translucency (NT) thickness and neurodevelopmental disorders in euploid children. METHODS: This study included 222 505 euploid children who had undergone routine first-trimester screening during fetal life. Children were divided...... spectrum disorders (ASD), cerebral palsy, epilepsy and febrile seizures was obtained from national patient registries. RESULTS: There was no excess risk of neurodevelopmental disorders among euploid children with first-trimester NT 95(th) -99(th) percentile. For children with NT > 99(th) percentile...... in the risk of cerebral palsy (OR, 1.91 (95% CI, 0.61-5.95), 0.47%), epilepsy (OR, 1.51 (95% CI, 0.63-3.66), 0.78%) or febrile seizures (OR, 0.72 (95% CI, 0.44-1.16), 2.65%). CONCLUSIONS: In a large unselected cohort of euploid children, there was no increased risk of neurodevelopmental disorders among those...
Vogel, Alecia C; Gutmann, David H; Morris, Stephanie M
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression. Early recognition of these developmental impairments is important for the effective treatment of children with NF1, and further characterization is essential to improve our understanding of how mutations in the NF1 gene create the diversity of clinical neuropsychiatric symptomatology observed in this at-risk population. © 2017 Mac Keith Press.
Mouga, Susana; Café, Cátia; Almeida, Joana; Marques, Carla; Duque, Frederico; Oliveira, Guiomar
The influence of specific autism spectrum disorder (ASD) deficits in Intelligence Quotients (IQ), Indexes and subtests from the Wechsler Intelligence Scale for Children-III was investigated in 445 school-aged children: ASD (N = 224) and other neurodevelopmental disorders (N = 221), matched by Full-Scale IQ and chronological age. ASD have lower…
Mouga, Susana; Almeida, Joana; Café, Cátia; Duque, Frederico; Oliveira, Guiomar
We investigated the influence of specific autism spectrum disorder (ASD) deficits in learning adaptive behaviour, besides intelligence quotient (IQ). Participated 217 school-aged: ASD (N = 115), and other neurodevelopmental disorders (OND) groups (N = 102) matched by Full-Scale IQ. We compared standard scores of Vineland Adaptive Behaviour Scale…
Ullman, Michael T; Pullman, Mariel Y
Most research on neurodevelopmental disorders has focused on their abnormalities. However, what remains intact may also be important. Increasing evidence suggests that declarative memory, a critical learning and memory system in the brain, remains largely functional in a number of neurodevelopmental disorders. Because declarative memory remains functional in these disorders, and because it can learn and retain numerous types of information, functions, and tasks, this system should be able to play compensatory roles for multiple types of impairments across the disorders. Here, we examine this hypothesis for specific language impairment, dyslexia, autism spectrum disorder, Tourette syndrome, and obsessive-compulsive disorder. We lay out specific predictions for the hypothesis and review existing behavioral, electrophysiological, and neuroimaging evidence. Overall, the evidence suggests that declarative memory indeed plays compensatory roles for a range of impairments across all five disorders. Finally, we discuss diagnostic, therapeutic and other implications. Copyright © 2015 Elsevier Ltd. All rights reserved.
de Theije, Caroline G M; Bavelaar, Bas M; Lopes da Silva, Sofia; Korte, Sijmen Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in the development of ASD and ADHD. Allergic immune reactions, in prenatal and postnatal phases, are examples of these environmental factors, and adverse reactions to foods are reported in these children. In this review, we address the clinical and preclinical findings of (food) allergy in ASD and ADHD and suggest possible underlying mechanisms. Furthermore, opportunities for nutritional interventions in neurodevelopmental disorders are provided. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Evers, Christina; Staufner, Christian; Granzow, Martin; Paramasivam, Nagarajan; Hinderhofer, Katrin; Kaufmann, Lilian; Fischer, Christine; Thiel, Christian; Opladen, Thomas; Kotzaeridou, Urania; Wiemann, Stefan; Schlesner, Matthias; Eils, Roland; Kölker, Stefan; Bartram, Claus R; Hoffmann, Georg F; Moog, Ute
Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias). In one family two coexisting autosomal recessive diseases caused by homozygous pathogenic variants in two different genes were diagnosed. In another family, a homozygous frameshift variant in STRADA was found to cause a severe NDD with early onset epilepsy, brain anomalies, hypotonia, heart defect, nephrocalcinosis, macrocephaly and distinctive facies so far designated as PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome. In 7 of the 21 families with a molecular diagnosis the pathogenic variants were only identified by clinical follow-up, manual reevaluation of the literature, a change of filter setting, and/or reconsideration of inheritance pattern. Most importantly, clinical implications included management changes in 8 cases and impact on family planning in 20 families with a molecular diagnosis. This study shows that reevaluation and follow-up can improve the diagnostic rate and that WES results have important implications on medical management and family planning. Furthermore, we could confirm STRADA as a gene associated with syndromic ID but find it questionable if the current designation as PMSE depicts the most important clinical features. Copyright © 2017 Elsevier Inc. All rights reserved.
Peralta, Victor; Cuesta, Manuel J
Motor abnormalities (MAs) of severe mental disorders have been traditionally neglected both in clinical practice and research, although they are an increasing focus of attention because of their clinical and neurobiological relevance. For historical reasons, most of the literature on MAs has been focused to a great extent on schizophrenia, and as a consequence their prevalence and featural properties in other psychiatric or neuropsychiatric disorders are poorly known. In this article, we evaluated the extent to which catatonic, extrapyramidal and neurological soft signs, and their associated clinical features, are present transdiagnostically. We examined motor-related features in neurodevelopmental (schizophrenia, obsessive compulsive disorder, autism spectrum disorders), "functional" (nonschizophrenic nonaffective psychoses, mood disorders) and neurodegenerative (Alzheimer's disease) disorders. Examination of the literature revealed that there have been very few comparisons of motor-related features across diagnoses and we had to rely mainly in disorder-specific studies to compare it transdiagnostically. One or more motor domains had a substantial prevalence in all the diagnoses examined. In "functional" disorders, MAs, and particularly catatonic signs, appear to be markers of episode severity; in chronic disorders, although with different degree of strength or evidence, all motor domains are indicators of both disorder severity and poor outcome; lastly, in Alzheimer's disease they are also indicators of disorder progression. MAs appear to represent a true transdiagnostic domain putatively sharing neurobiological mechanisms of neurodevelopmental, functional or neurodegenerative origin.
Prenatal infection is an environmental risk factor for various brain disorders with neurodevelopmental components, including autism spectrum disorder and schizophrenia. Modeling this association in animals shows that maternal immune activation negatively affects fetal brain development and leads to the emergence of behavioral disturbances later in life. Recent discoveries in these preclinical models suggest that epigenetic modifications may be a critical molecular mechanism by which prenatal immune activation can mediate changes in brain development and functions, even across generations. This review discusses the potential epigenetic mechanisms underlying the effects of prenatal infections, thereby highlighting how infection-mediated epigenetic reprogramming may contribute to the transgenerational transmission of pathological traits. The identification of epigenetic and transgenerational mechanisms in infection-mediated neurodevelopmental disorders appears relevant to brain disorders independently of existing diagnostic classifications and may help identifying complex patterns of transgenerational disease transmission beyond genetic inheritance. The consideration of ancestral infectious histories may be of great clinical interest and may be pivotal for developing new preventive treatment strategies against infection-mediated neurodevelopmental disorders.
Full Text Available A dysfunction of cortical and limbic GABAergic circuits has been postulated to contribute to multiple neurodevelopmental disorders in humans, including schizophrenia, autism, and epilepsy. In the current paper, I summarize the characteristics that underlie the great diversity of cortical GABAergic interneurons and explore how the multiple roles of these cells in developing and mature circuits might contribute to the aforementioned disorders. Furthermore, I review the tightly controlled genetic cascades that determine the fate of cortical interneurons and summarize how the dysfunction of genes important for the generation, specification, maturation, and function of cortical interneurons might contribute to these disorders.
Kubota, Takeo; Takae, Hirasawa; Miyake, Kunio
The number of children with mild neurodevelopmental disorders, such as autism, has been recently increasing in advanced countries. This increase is probably caused by environmental factors rather than genetic factors, because it is unlikely that genetic mutation rates suddenly increased within a short period. Epigenetics is a mechanism that regulates gene expression, depending not on the underlying DNA sequence but on the chemical modifications of DNA and histone proteins. Because mental stre...
Dykens, Elisabeth M
Developmental disabilities are increasingly recognized, and remarkable progress is being made on the genetic and neurobiological underpinnings of many disorders. Yet, only a tiny percentage of the disability literature addresses families of children with disabilities. A review of recently published family studies reveals salient trends and gaps. Consistent with previous work, high levels of parent stress, illness, anxiety, and depression are apparent. Studies in the USA focused on parents of children with autism; in contrast, studies on parents of children with intellectual disabilities were almost always conduced abroad. Compared to other disabilities, families of children with psychiatric disorders and genetic syndromes are understudied. The majority of family studies are descriptive, with very few trials or interventions aimed at reducing parental stress. Of these, mindfulness practices and a peer-mentor model of treatment delivery hold much promise for effective stress reduction. Psychoeducational programs and respite care are differentially beneficial. A new era of family intervention research is in order. This work can take advantage of many advances in telemedicine, peer-mentor models, smart technology, and biomarkers as indices of change. Benefit could also stem from group interventions with parents who share similar concerns, regardless of their child's diagnostic label.
Crawley, Jacqueline N
Autism is a neurodevelopmental disorder whose diagnosis is based on three behavioral criteria: unusual reciprocal social interactions, deficits in communication, and stereotyped repetitive behaviors with restricted interests. A large number of de novo single gene mutations and chromosomal deletions are associated with autism spectrum disorders. Based on the strong genetic evidence, mice with targeted mutations in homologous genes have been generated as translational research tools. Mouse models of autism have revealed behavioral and biological outcomes of mutations in risk genes. The field is now poised to employ the most robust phenotypes in the most replicable mouse models for preclinical screening of novel therapeutics.
Andrews, G; Pine, D S; Hobbs, M J; Anderson, T M; Sunderland, M
DSM-IV and ICD-10 are atheoretical and largely descriptive. Although this achieves good reliability, the validity of diagnoses can be increased by an understanding of risk factors and other clinical features. In an effort to group mental disorders on this basis, five clusters have been proposed. We now consider the second cluster, namely neurodevelopmental disorders. We reviewed the literature in relation to 11 validating criteria proposed by a DSM-V Task Force Study Group. This cluster reflects disorders of neurodevelopment rather than a 'childhood' disorders cluster. It comprises disorders subcategorized in DSM-IV and ICD-10 as Mental Retardation; Learning, Motor, and Communication Disorders; and Pervasive Developmental Disorders. Although these disorders seem to be heterogeneous, they share similarities on some risk and clinical factors. There is evidence of a neurodevelopmental genetic phenotype, the disorders have an early emerging and continuing course, and all have salient cognitive symptoms. Within-cluster co-morbidity also supports grouping these disorders together. Other childhood disorders currently listed in DSM-IV share similarities with the Externalizing and Emotional clusters. These include Conduct Disorder, Attention Deficit Hyperactivity Disorder and Separation Anxiety Disorder. The Tic, Eating/Feeding and Elimination disorders, and Selective Mutisms were allocated to the 'Not Yet Assigned' group. Neurodevelopmental disorders meet some of the salient criteria proposed by the American Psychiatric Association (APA) to suggest a classification cluster.
Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency...
Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.
In some neuro-developmental disorders, the combined effect of intellectual disability and atypicalities of social cognition may put individuals at increased vulnerability in their social environment. The neuro-developmental disorders Williams syndrome, characterised by "hypersociability", and autism spectrum disorders, characterised by "social…
Full Text Available The number of children with mild neurodevelopmental disorders, such as autism, has been recently increasing in advanced countries. This increase is probably caused by environmental factors rather than genetic factors, because it is unlikely that genetic mutation rates suddenly increased within a short period. Epigenetics is a mechanism that regulates gene expression, depending not on the underlying DNA sequence but on the chemical modifications of DNA and histone proteins. Because mental stress can alter the epigenetic status in neuronal cells, environmental factors may alter brain function through epigenetic changes. However, one advantage of epigenetic changes is their reversibility. Therefore, diseases due to abnormal epigenetic regulation are theoretically treatable. In fact, several drugs for treating mental diseases are known to have restoring effects on aberrant epigenetic statuses, and a novel therapeutic strategy targeting gene has been developed. In this review, we discuss epigenetic mechanisms of congenital and acquired neurodevelopmental disorders, drugs with epigenetic effects, novel therapeutic strategies for epigenetic diseases, and future perspectives in epigenetic medicine.
Zinkstok, J.; Buitelaar, J.
BACKGROUND: The 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM) was published in May, 2013. AIM: To review the changes in the diagnostic criteria for autism spectrum disorder (ASD) and ADHD in DSM-5, compared to DSM-IV. METHOD: The diagnostic criteria for ASD and ADHD
Bruining, Hilgo; Passtoors, Laurien; Goriounova, Natalia; Jansen, Floor; Hakvoort, Britt; de Jonge, Maretha; Poil, Simon-Shlomo
The diuretic agent bumetanide has recently been put forward as a novel, promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate γ-aminobutyric acid (GABA)-ergic inhibition in patients with neurodevelopmental disorders. However, strategies to select appropriate candidates for bumetanide treatment are lacking. We hypothesized that a paradoxical response to GABA-enforcing agents such as benzodiazepines may predict the efficacy of bumetanide treatment in neurodevelopmental disorders. We describe a case of a 10-year-old girl with ASD, epilepsy, cortical dysplasia, and a 15q11.2 duplication who had exhibited marked behavioral arousal after previous treatment with clobazam, a benzodiazepine. We hypothesized that this response indicated the presence of depolarizing excitatory GABA and started bumetanide treatment with monitoring of behavior, cognition, and EEG. The treatment resulted in a marked clinical improvement in sensory behaviors, rigidity, and memory performance, which was substantiated by questionnaires and cognitive assessments. At baseline, the girl's EEG showed a depression in absolute α power, an electrographic sign previously related to ASD, which was normalized with bumetanide treatment. The effects of bumetanide on cognition and EEG seemed to mirror the "nonparadoxical" responses to benzodiazepines in healthy subjects. In addition, temporal lobe epilepsy and cortical dysplasia have both been linked to disturbed chloride homeostasis and seem to support our assumption that the observed paradoxical response was due to GABA-mediated excitation. This case highlights that a paradoxical behavioral response to GABA-enforcing drugs may constitute a framework for targeted treatment with bumetanide. Copyright © 2015 by the American Academy of Pediatrics.
Alberto J Lopez
Full Text Available It is becoming increasingly important to understand how epigenetic mechanisms control gene expression during neurodevelopment. Two epigenetic mechanisms that have received considerable attention are DNA methylation and histone acetylation. Human exome sequencing and genome-wide association studies have linked several neurobiological disorders to genes whose products actively regulate DNA methylation and histone acetylation. More recently, a third major epigenetic mechanism, nucleosome remodeling, has been implicated in human developmental and intellectual disability disorders. Nucleosome remodeling is driven primarily through nucleosome remodeling complexes with specialized ATP-dependent enzymes. These enzymes directly interact with DNA or chromatin structure, as well as histone subunits, to restructure the shape and organization of nucleosome positioning to ultimately regulate gene expression. Of particular interest is the neuron-specific Brg1/hBrm Associated Factor (nBAF complex. Mutations in nBAF subunit genes have so far been linked to Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, schizophrenia, and Autism Spectrum Disorder. Together, these human developmental and intellectual disability disorders are powerful examples of the impact of epigenetic modulation on gene expression. This review focuses on the new and emerging role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders and whether nucleosome remodeling affects gene expression required for cognition independently of its role in regulating gene expression required for development.
Mpaka, Davin Mbeya; Okitundu, Daniel Luwa E-Andjafono; Ndjukendi, Ally Omba; N'situ, Adelin Mankubu; Kinsala, Sebastien Yabassi; Mukau, Joachim Ebwel; Ngoma, Valentin Malanda; Kashala-Abotnes, Espérance; Ma-Miezi-Mampunza, Samuel; Vogels, Annick; Steyaert, Jeans
Autism spectrum disorders (ASD) is a neurodevelopmental disorder that has been rarely diagnosed in Sub-Saharan Africa. Although a proportion of children do present features of ASD in the Democratic Republic of Congo (DRC), little is known about it prevalence. Often, the co-morbidities constitute the upfront symptoms and therefore may it recognition and management difficult, aggravating as such the prognosis. The present study therefore aimed at studying the clinical profile of autism spectrum disorder (ASD) and the associated morbidities among children and adolescents in outpatient clinics in Kinshasa, the Democratic Republic of Congo. We conducted a cross sectional study in the three outpatients centers receiving patients referred for neurodevelopmental disorders in Kinshasa, DRC, from June 2008 to June 2010. A total of 450 subjects aged from 1-18 years old were referred and included in the study. The clinical diagnosis for ASD was made using the DSM-IV-R and the ADIR. Co-morbidities were identified using DSM-IV-R criteria together with an extensive clinical interview and observation. All patients were subject to an intellectual quotient evaluation and an electroencephalogram reporting. Of the 450 subjects referred, 120 (29.3%) received the diagnosis of ASD, with boys outnumbering girls (OR 3:1. The mean age was 7.9 years (SD 3.4) (psociety in Kinshasa DRC. This will help to identify and manage ASD and associated co-morbidities at an early stage for a better prognosis.
Homberg, J.R.; Kyzar, E.J.; Nguyen, M; Norton, W.H.; Pittman, J.; Poudel, M.K.; Gaikwad, S.; Nakamura, S.; Koshiba, M.; Yamanouchi, H.; Scattoni, M.L.; Ullman, J.F.; Diamond, D.M.; Kaluyeva, A.A.; Parker, M.O.; Klimenko, V.M.; Apryatin, S.A.; Brown, R.E.; Song, C.; Gainetdinov, R.R.; Gottesman, II; Kalueff, A.V.
Neurodevelopmental disorders (NDDs) are highly prevalent and severely debilitating brain illnesses caused by aberrant brain growth and development. Resulting in cognitive, social, motor, language and affective disabilities, common NDDs include autism spectrum disorder (ASD), intellectual disability,
Reuter, Miriam S; Tawamie, Hasan; Buchert, Rebecca; Hosny Gebril, Ola; Froukh, Tawfiq; Thiel, Christian; Uebe, Steffen; Ekici, Arif B; Krumbiegel, Mandy; Zweier, Christiane; Hoyer, Juliane; Eberlein, Karolin; Bauer, Judith; Scheller, Ute; Strom, Tim M; Hoffjan, Sabine; Abdelraouf, Ehab R; Meguid, Nagwa A; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Abdallah, Ebtessam; Sticht, Heinrich; Wieczorek, Dagmar; Reis, André; Abou Jamra, Rami
Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID). The study was conducted from July 1, 2008, to June 30, 2015, and data analysis was conducted from July 1, 2015, to August 31, 2016. Of the 152 consanguineous families enrolled, 1 child (in 45 families [29.6%]) or multiple children (107 families [70.4%]) had ID; additional features were present in 140 of the families (92.1%). The mean (SD) age of the children was 10.3 (9.0) years, and 171 of 297 (57.6%) were male. In 109 families (71.7%), potentially protein-disrupting and clinically relevant variants were identified. Of these, a clear clinical genetic diagnosis was made in 56 families (36.8%) owing to 57 (likely) pathogenic variants in 50 genes already established in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7 previously proposed recessive candidates. In 5 of these families, potentially treatable disorders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified. In another 48 families (31.6%), 52 convincing recessive variants in candidate genes that were not previously reported in regard to neurodevelopmental disorders were identified. Of these, 14 were homozygous and truncating in GRM7, STX1A, CCAR2, EEF1D, GALNT2, SLC44A1, LRRIQ3, AMZ2, CLMN, SEC23IP, INIP, NARG2, FAM234B, and TRAP1. The diagnostic yield was higher in
Sukoff Rizzo, Stacey J; Crawley, Jacqueline N
Animal models offer heuristic research tools to understand the causes of human diseases and to identify potential treatments. With rapidly evolving genetic engineering technologies, mutations identified in a human disorder can be generated in the mouse genome. Phenotypic outcomes of the mutation are then explicated to confirm hypotheses about causes and to discover effective therapeutics. Most neurodevelopmental, neurodegenerative, and psychiatric disorders are diagnosed primarily by their prominent behavioral symptoms. Mouse behavioral assays analogous to the human symptoms have been developed to analyze the consequences of mutations and to evaluate proposed therapeutics preclinically. Here we describe the range of mouse behavioral tests available in the established behavioral neuroscience literature, along with examples of their translational applications. Concepts presented have been successfully used in other species, including flies, worms, fish, rats, pigs, and nonhuman primates. Identical strategies can be employed to test hypotheses about environmental causes and gene × environment interactions.
Rubab G. Arim
Full Text Available The purpose of this study was to compare rates of participation for children (4–9 years of age with neurodevelopmental disorders (NDDs with and without externalizing behavior problems (EBPs with children without disability and to examine mediators of the relation between disability and physical activity participation. Data for this study were drawn from Cycle 7 (2006-07 of the Canadian National Longitudinal Survey of Children and Youth (NLSCY. The frequency of children’s participation in organized sports or physical activities varied depending on the child’s health condition with children with NDDs and both NDDs and EBPs participating least in organized sports or physical activities followed by children with EBPs only. In contrast, there were no statistically significant differences by health group for children’s participation in unorganized sports or physical activities. These differences remained even after controlling for the effects of other child and family sociodemographic characteristics, except for children with EBPs only. These findings highlight the importance of considering children’s primary and other existing health conditions as well as family sociodemographic characteristics in order to better understand the factors that influence participation in organized physical activities for children with disabilities.
Parker, Whitney E.; Orlova, Ksenia A.; Parker, William H.; Birnbaum, Jacqueline F.; Krymskaya, Vera P.; Goncharov, Dmitry A.; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A.; Crino, Peter B.
A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological
Conclusion: These findings stress that it is essential to accurately identify motor coordination impairments and the interventions that would consider motor coordination problems related to cognitive abilities and academic achievement in Japanese children with neurodevelopmental disorders.
Schubert, D; Martens, G J M; Kolk, S M
The prefrontal cortex (PFC), seat of the highest-order cognitive functions, constitutes a conglomerate of highly specialized brain areas and has been implicated to have a role in the onset and installation of various neurodevelopmental disorders. The development of a properly functioning PFC is directed by transcription factors, guidance cues and other regulatory molecules and requires the intricate and temporal orchestration of a number of developmental processes. Disturbance or failure of any of these processes causing neurodevelopmental abnormalities within the PFC may contribute to several of the cognitive deficits seen in patients with neurodevelopmental disorders. In this review, we elaborate on the specific processes underlying prefrontal development, such as induction and patterning of the prefrontal area, proliferation, migration and axonal guidance of medial prefrontal progenitors, and their eventual efferent and afferent connections. We furthermore integrate for the first time the available knowledge from genome-wide studies that have revealed genes linked to neurodevelopmental disorders with experimental molecular evidence in rodents. The integrated data suggest that the pathogenic variants in the neurodevelopmental disorder-associated genes induce prefrontal cytoarchitectonical impairments. This enhances our understanding of the molecular mechanisms of prefrontal (mis)development underlying the four major neurodevelopmental disorders in humans, that is, intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder and schizophrenia, and may thus provide clues for the development of novel therapies. PMID:25450230
Harris, James C
Paul MacLean has investigated integrated brain functioning through selected brain lesions in animals that disturb circuits necessary for complex behaviors, such as social displays. MacLean is unique in his comparative neurobehavioral approach that emphasizes the evolutionary origins of parenting and social behaviors and the implications of brain changes in the evolution from reptiles (social displays) to mammals (nursing, audiovocal communication, play) to man (self-awareness, intentionality, social context) that link affect and cognition. Subjectively, how "looking with feeling toward others," the basic element in empathy, evolved has been a central concern of his. Neuroimaging studies of social cognition, mother-infant communication, moral behavior, forgiveness, and trust are consistent with particular brain systems being activated in cooperative social behaviors. The identification of mirror neurons is pertinent to MacLean's model of isopraxis and studies of thalamocortical resonances may be pertinent to his neurobehavioral models. Studies of behavioral phenotypes in human neurodevelopmental disorders are consistent with MacLean's model of brain circuits being linked to complex behaviors during development. In autistic disorder, the behavioral phenotype involves disrupted social communication, deviant imaginative play, and motor stereotypies. In Lesch-Nyhan syndrome (LNS), self-injury occurs in individuals with normal sensory systems intact who require and request physical restraint to prevent self-injury; they ask for assistance from others to prevent them from harming themselves. Autism involves the lack of subjective awareness of others intentions and LNS involves a failure in self-regulation and self-control of self-injurious behavior. MacLean's models laid the groundwork for studies focused on understanding brain functioning in these conditions.
Smith, Michael; Peacock, Georgina; Uyeki, Timothy M; Moore, Cynthia
Children with neurologic or neurodevelopmental disorders (NNDDs) are at increased risk of complications from influenza. Although the Advisory Committee on Immunization Practices (ACIP) has recognized NNDDs as high-risk conditions for influenza complications since 2005, little is known about influenza vaccination practices in this population. CDC collaborated with Family Voices, a national advocacy group for children with special healthcare needs, to recruit parents of children with chronic medical conditions. Parents were surveyed about their knowledge, attitudes, and practices surrounding influenza vaccination. The primary outcome of interest was parental report of vaccination, or intent to vaccinate, at the time of survey participation. CDC also collaborated with the American Academy of Pediatrics to recruit primary care and specialty physicians who provide care for high-risk children, specifically those with neurologic conditions. The primary outcome was physician recognition of ACIP high-risk influenza conditions. 2138 surveys were completed by parents of children with high-risk conditions, including 1143 with at least one NNDD. Overall, 50% of children with an NNDD were vaccinated, or their parents planned to have them vaccinated against influenza. Among all 2138 children, in multivariable analysis, the presence of a respiratory condition and prior seasonal influenza vaccination was significantly associated with receipt or planned current season influenza vaccination, but the presence of an NNDD was not. 412 pediatricians completed the provider survey. Cerebral palsy was recognized as a high-risk influenza condition by 74% of physician respondents, but epilepsy (51%) and intellectual disability (46%) were less commonly identified. Our estimates of influenza vaccination in children with NNDDs are comparable to published reports of vaccination in healthy children, which continue to be suboptimal. Education of parents of children with NNDDs and healthcare
O'Shea, K Sue; McInnis, Melvin G
Bipolar disorder (BP) is a chronic neuropsychiatric condition characterized by pathological fluctuations in mood from mania to depression. Adoption, twin and family studies have consistently identified a significant hereditary component to BP, yet there is no clear genetic event or consistent neuropathology. BP has been suggested to have a developmental origin, although this hypothesis has been difficult to test since there are no viable neurons or glial cells to analyze, and research has relied largely on postmortem brain, behavioral and imaging studies, or has examined proxy tissues including saliva, olfactory epithelium and blood cells. Neurodevelopmental factors, particularly pathways related to nervous system development, cell migration, extracellular matrix, H3K4 methylation, and calcium signaling have been identified in large gene expression and GWAS studies as altered in BP. Recent advances in stem cell biology, particularly the ability to reprogram adult somatic tissues to a pluripotent state, now make it possible to interrogate these pathways in viable cell models. A number of induced pluripotent stem cell (iPSC) lines from BP patient and healthy control (C) individuals have been derived in several laboratories, and their ability to form cortical neurons examined. Early studies suggest differences in activity, calcium signaling, blocks to neuronal differentiation, and changes in neuronal, and possibly glial, lineage specification. Initial observations suggest that differentiation of BP patient-derived neurons to dorsal telencephalic derivatives may be impaired, possibly due to alterations in WNT, Hedgehog or Nodal pathway signaling. These investigations strongly support a developmental contribution to BP and identify novel pathways, mechanisms and opportunities for improved treatments. Copyright © 2015 Elsevier Inc. All rights reserved.
Uljarević, Mirko; Katsos, Napoleon; Hudry, Kristelle; Gibson, Jenny L
Language and communication skills are essential aspects of child development, which are often disrupted in children with neurodevelopmental disorders. Cutting edge research in psycholinguistics suggests that multilingualism has potential to influence social, linguistic and cognitive development. Thus, multilingualism has implications for clinical assessment, diagnostic formulation, intervention and support offered to families. We present a systematic review and synthesis of the effects of multilingualism for children with neurodevelopmental disorders and discuss clinical implications. We conducted systematic searches for studies on multilingualism in neurodevelopmental disorders. Keywords for neurodevelopmental disorders were based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition categories as follows; Intellectual Disabilities, Communication Disorders, Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder, Specific Learning Disorder, Motor Disorders, Other Neurodevelopmental Disorders. We included only studies based on empirical research and published in peer-reviewed journals. Fifty studies met inclusion criteria. Thirty-eight studies explored multilingualism in Communication Disorders, 10 in ASD and two in Intellectual Disability. No studies on multilingualism in Specific Learning Disorder or Motor Disorders were identified. Studies which found a disadvantage for multilingual children with neurodevelopmental disorders were rare, and there appears little reason to assume that multilingualism has negative effects on various aspects of functioning across a range of conditions. In fact, when considering only those studies which have compared a multilingual group with developmental disorders to a monolingual group with similar disorders, the findings consistently show no adverse effects on language development or other aspects of functioning. In the case of ASD, a positive effect on communication and social functioning has
Vinet, É; Pineau, C A; Clarke, A E; Fombonne, É; Platt, R W; Bernatsky, S
Children born to women with systemic lupus erythematosus seem to have a potentially increased risk of neurodevelopmental disorders compared to children born to healthy women. Recent experimental data suggest in utero exposure to maternal antibodies and cytokines as important risk factors for neurodevelopmental disorders. Interestingly, women with systemic lupus erythematosus display high levels of autoantibodies and cytokines, which have been shown, in animal models, to alter fetal brain development and induce behavioral anomalies in offspring. Furthermore, subjects with systemic lupus erythematosus and neurodevelopmental disorders share a common genetic predisposition, which could impair the fetal immune response to in utero immunologic insults. Moreover, systemic lupus erythematosus pregnancies are at increased risk of adverse obstetrical outcomes and medication exposures, which have been implicated as potential risk factors for neurodevelopmental disorders. In this article, we review the current state of knowledge on neurodevelopmental disorders and their potential determinants in systemic lupus erythematosus offspring. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
Ratto, Allison B.; Anthony, Bruno J.; Pugliese, Cara; Mendez, Rocio; Safer-Lichtenstein, Jonathan; Dudley, Katerina M.; Kahn, Nicole F.; Kenworthy, Lauren; Biel, Matthew; Martucci, Jillian L.; Anthony, Laura G.
Low-income and ethnic minority families continue to face critical disparities in access to diagnostic and treatment services for neurodevelopmental conditions, such as autism spectrum disorder and attention deficit hyperactivity disorder. Despite the growing cultural diversity of the United States, ethnic minority children and families continue to…
Arnsten, Amy F. T.; Rubia, Katya
Objective: This article aims to review basic and clinical studies outlining the roles of prefrontal cortical (PFC) networks in the behavior and cognitive functions that are compromised in childhood neurodevelopmental disorders and how these map into the neuroimaging evidence of circuit abnormalities in these disorders. Method: Studies of animals,…
Fung, Lawrence K; Quintin, Eve-Marie; Haas, Brian W; Reiss, Allan L
The overarching goal of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features. Information is presented in a framework that provides guiding principles for conceptualizing gene-brain-behavior associations in neurodevelopmental disorders. Abnormalities, in particular cognitive-behavioral domains with similarities in underlying neurodevelopmental correlates, occur in both FraX and Williams syndrome including aberrant frontostriatal pathways leading to executive function deficits, and magnocellular/dorsal visual stream, superior parietal lobe, inferior parietal lobe, and postcentral gyrus abnormalities contributing to deficits in visuospatial function. Compelling cognitive-behavioral and neurodevelopmental contrasts also exist in these two disorders, for example, aberrant amygdala and fusiform cortex structure and function occurring in the context of contrasting social behavioral phenotypes, and temporal cortical and cerebellar abnormalities potentially underlying differences in language function. Abnormal dendritic development is a shared neurodevelopmental morphologic feature between FraX and Williams syndrome. Commonalities in molecular machinery and processes across FraX and Williams syndrome occur as well - microRNAs involved in translational regulation of major synaptic proteins; scaffolding proteins in excitatory synapses; and proteins involved in axonal development. Although the genetic variations leading to FraX and Williams syndrome are different, important similarities and contrasts in the phenotype, neurocircuitry, molecular machinery, and cellular processes in these two disorders allow for a unique approach to conceptualizing gene-brain-behavior links occurring in neurodevelopmental disorders.
Sugranyes, Gisela; de la Serna, Elena; Borras, Roger; Sanchez-Gistau, Vanessa; Pariente, Jose C; Romero, Soledad; Baeza, Inmaculada; Díaz-Caneja, Covadonga M; Rodriguez-Toscano, Elisa; Moreno, Carmen; Bernardo, Miguel; Moreno, Dolores; Vieta, Eduard; Castro-Fornieles, Josefina
Studies in child and adolescent offspring of patients with schizophrenia or bipolar disorders may help understand the influence of neurodevelopmental factors on the premorbid phenotype of these disorders. To assess whether a combination of neurodevelopmental factors discriminates between young offspring of patients with schizophrenia (SzO) or bipolar disorder (BpO) and community controls (CcO). To assess the association between these factors and rates of psychiatric diagnoses in high risk (HR) youth. One hundred thirty-three HR offspring (47 SzO and 86 BpO) and 84 CcO, aged 6-17, underwent cross-sectional clinical, neurocognitive, and structural neuroimaging assessment. Information on perinatal events and early childhood development was also obtained. General linear mixed models were performed to assess group discrimination and association with lifetime axis I psychiatric disorders. Multivariate analyses revealed that greater neurological soft signs (NSS), less total grey matter volume (GMV) and a higher frequency of obstetric complications discriminated HR offspring from CcO. When comparing each group individually, greater NSS and a higher frequency of obstetric complications discriminated SzO from CcO, and BpO from CcO, while lower intelligence also discriminated SzO from CcO and from BpO. Within HR offspring, lower intelligence and less total GMV were associated with lifetime incidence of psychiatric disorders. Both SzO and BpO showed evidence of neurodevelopmental insult, although this may have a greater impact in SzO. Lower intelligence and less total GMV hold potential as biomarkers of risk for psychiatric disorders in HR youth.
Kakooza-Mwesige, Angelina; Ssebyala, Keron; Karamagi, Charles; Kiguli, Sarah; Smith, Karen; Anderson, Meredith C; Croen, Lisa A; Trevathan, Edwin; Hansen, Robin; Smith, Daniel; Grether, Judith K
Neurodevelopmental disorders are recognized to be relatively common in developing countries but little data exist for planning effective prevention and intervention strategies. In particular, data on autism spectrum disorders are lacking. For application in Uganda, we developed a 23-question screener (23Q) that includes the Ten Questions screener and additional questions on autism spectrum disorder behaviors. We then conducted household screening of 1169 children, 2-9 years of age, followed by clinical assessment of children who screened positive and a sample of those who screened negative to evaluate the validity of the screener. We found that 320 children (27% of the total) screened positive and 68 children received a clinical diagnosis of one or more moderate to severe neurodevelopmental disorders (autism spectrum disorder; cerebral palsy; epilepsy; cognitive, speech and language, hearing, or vision impairment), including 8 children with autism spectrum disorders. Prevalence and validity of the screener were evaluated under different statistical assumptions. Sensitivity of the 23Q ranged from 0.55 to 0.80 and prevalence for ≥1 neurodevelopmental disorders from 7.7/100 children to 12.8/100 children depending on which assumptions were used. The combination of screening positive on both autism spectrum disorders and Ten Questions items was modestly successful in identifying a subgroup of children at especially high risk of autism spectrum disorders. We recommend that autism spectrum disorders and related behavioral disorders be included in studies of neurodevelopmental disorders in low-resource settings to obtain essential data for planning local and global public health responses.
Full Text Available Many neurological disorders affect men and women differently regarding prevalence, progression, and severity. It is clear that many of these disorders may originate from defective signaling during fetal or perinatal brain development, which may affect males and females differently. Such sex-specific differences may originate from chromosomal or sex-hormone specific effects. This short review will focus on the estrogen receptor beta (ERβ signaling during perinatal brain development and put it in the context of sex-specific differences in neurodevelopmental disorders. We will discuss ERβ’s recent discovery in directing DNA de-methylation to specific sites, of which one such site may bear consequences for the susceptibility to the neurological reading disorder dyslexia. We will also discuss how dysregulations in sex-hormone signaling, like those evoked by endocrine disruptive chemicals, may affect this and other neurodevelopmental disorders in a sex-specific manner through ERβ.
Erdődi, Lászlό; Lajiness-O'Neill, Renée; Schmitt, Thomas A
Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly characterize and examine the integrity of learning and memory processes, (2) to better understand the mechanisms of learning impairment, and (3) to inform instructional practices in ASD. Contrary to expectations, children with ASD demonstrated a relative weakness in the rate of acquisition of visual in contrast to verbal learning compared to neurotypicals. They also showed a complex pattern of consolidation. Overall, between-group differences were more likely to emerge during the visual learning task, suggesting that it may be more sensitive for detecting neurodevelopmental differences. The heuristic value of assessing memory and learning across multiple trials and comparing performance during immediate and delayed recall is discussed.
Chilosi, Anna M.; Comparini, Alessandro; Scusa, Maria F.; Berrettini, Stefano; Forli, Francesca; Battini, Roberta; Cipriani, Paola; Cioni, Giovanni
Aim: The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation…
Dichter Gabriel S
Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.
Blackmer, Allison Beck; Feinstein, James A
Neurodevelopmental disorders (NDDs) are defined as a group of disorders caused by changes in early brain development, resulting in behavioral and cognitive alterations in sensory and motor systems, speech, and language. NDDs affect approximately 1-2% of the general population. Up to 80% of children with NDDs are reported to have disrupted sleep; subsequent deleterious effects on daytime behaviors, cognition, growth, and overall development of the child are commonly reported. Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. The etiology of sleep disorders in children with NDDs is largely heterogeneous and disease specific. The diagnosis and management of sleep disorders in this population are complex, and little high-quality data exist to guide a consistent approach to therapy. Managing sleep disorders in children with NDDs is critical both for the child and for the family but is often frustrating due to the refractory nature of the problem. Sleep hygiene must be implemented as first-line therapy; if sleep hygiene alone fails, it should be combined with pharmacologic management. The available evidence for the use of common pharmacologic interventions, such as iron supplementation and melatonin, as well as less common interventions, such as melatonin receptor agonists, clonidine, gabapentin, hypnotics, trazodone, and atypical antipsychotics is reviewed. Further, parents and caregivers should be provided with appropriate education on the nature of the sleep disorders and the expectation for modest pharmacologic benefit, at best. Additional data from well-designed trials in children with NDDs are desperately needed to gain a better understanding of sleep pharmacotherapy including efficacy and safety implications. Until then, clinicians must rely on the limited available data, as well as clinical expertise, when managing sleep disorders in the
... Share Facebook Twitter Pinterest Email Print How are pelvic floor disorders diagnosed? A physical exam may be all ... fee ). This test is used to evaluate the pelvic floor and rectum while the patient is having a ...
Maria Luísa Bissoto
Full Text Available The neurodevelopmental disorders, mainly those genetics ones, are argued with the aim to analyze the human development conceptions that underlie these, and its impact for understanding who is the individual that carries this disorder. Methodologically, epistemological presupposition from “classical” neuropsychology and from “neuroconstructivist” neuropsychology had been compared. As results of this parallel had been considered relevant: a. the role of the individual surrounding, b. the question concerning the plasticity and dynamical character of development and c. the formal developmental process, from prenatal to postnatal period. The concluding comments claims that the Neuroconstructivist approaches allow conceiving the developmental process within genetics neurodevelopmental disorders not as a “fault” but as a differentiated and particular one. That should be understood in the Educational and Rehabilitation settings not as a nosological category but as a specific way of an individual acting while looking for a mode of being-in-the-world.
... are pelvic floor disorders diagnosed? Skip sharing on social media links Share this: Page Content A physical exam may be all that is needed to diagnose a PFD. In some cases, a woman’s health care provider will see or feel a bulge ...
Full Text Available Neurodevelopmental disorders represent a broad class of childhood neurological conditions that have a significant bearing on the wellbeing of children, families, and communities. In this review, we draw on evidence from two common and widely studied neurodevelopmental disorders—autism spectrum disorder (ASD and attention-deficit hyperactivity disorder (ADHD—to demonstrate the utility of genetically informed sibling designs in uncovering the nature and pathogenesis of these conditions. Specifically, we examine how twin, recurrence risk, and infant prospective tracking studies have contributed to our understanding of genetic and environmental liabilities towards neurodevelopmental morbidity through their impact on neurocognitive processes and structural/functional neuroanatomy. It is suggested that the siblings of children with ASD and ADHD are at risk not only of clinically elevated problems in these areas, but also of subthreshold symptoms and/or subtle impairments in various neurocognitive skills and other domains of psychosocial health. Finally, we close with a discussion on the practical relevance of sibling designs and how these might be used in the service of early screening, prevention, and intervention efforts that aim to alleviate the negative downstream consequences associated with disorders of neurodevelopment.
Merikangas, Alison K
Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista on understanding susceptibility to neuropsychiatric disorders. Some challenges in the interpretation of current CNV studies include the use of overlapping samples, differing phenotypic definitions, an absence of population norms for CNVs and a lack of consensus in methods for CNV detection and analysis. Here, we review current CNV association study methods and results in autism spectrum disorders (ASD) and schizophrenia, and provide suggestions for design approaches to future studies that might maximize the translation of this work to etiological understanding.
Bruining, Hilgo; Passtoors, Laurien; Goriounova, Natalia; Jansen, Floor; Hakvoort, Britt; de Jonge, Maretha; Poil, Simon-Shlomo
The diuretic agent bumetanide has recently been put forward as a novel, promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate γ-aminobutyric acid (GABA)-ergic inhibition
Bruining, H.; Passtoors, L.; Goriounova, N.A.; Jansen, F.; Hakvoort, B.; de Jonge, M.; Poil, S.S.
The diuretic agent bumetanide has recently been put forward as a novel, abstract promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate g-aminobutyric acid (GABA)-ergic
Di Pietro, Nina C; Whiteley, Louise Emma; Illes, Judy
The Internet has quickly gained popularity as a major source of health-related information, but its impact is unclear. Here, we investigate the extent to which advocacy websites for three neurodevelopmental disorders—cerebral palsy (CP), autism spectrum disorder (ASD) and fetal alcohol spectrum...... disorder (FASD)—inform stakeholders about treatment options, and discuss the ethical challenges inherent in providing such information online. We identified major advocacy websites for each disorder and assessed website accountability, the number, attributes, and accessibility of treatments described...
Hori, Ikumi; Otomo, Takanobu; Nakashima, Mitsuko; Miya, Fuyuki; Negishi, Yutaka; SHIRAISHI, HIDEAKI; Nonoda, Yutaka; Magara, Shinichi; Tohyama, Jun; Okamoto, Nobuhiko; KUMAGAI, Takeshi; Shimoda, Konomi; Yukitake, Yoshiya; Kajikawa, Daigo; Morio, Tomohiro
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and musc...
Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G. W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations...
Parker, Whitney E.; Orlova, Ksenia A.; Parker, William H.; Birnbaum, Jacqueline F.; Krymskaya, Vera P.; Goncharov, Dmitry A.; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A.; Crino, Peter B.
A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heterotopic neurons in subcortical white matter and subependymal regions. PMSE is caused by a homozygous deletion of exons 9 to 13 of the LYK5/STRADA gene, which encodes the pseudokinase...
Schroeder, Stephen R.; Courtemanche, Andrea
There is a very substantial literature over the past 50 years on the advantages of early detection and intervention on the cognitive, communicative, and social-emotional development of infants and toddlers at risk for developmental delay due to premature birth or social disadvantage. Most of these studies excluded children with severe delays or other predisposing conditions, such as genetic or brain disorders. Many studies of children with biological or socio-developmental risk suggest that b...
Di Pietro, Nina C; Illes, Judy
To map the landscape of research on autism (ASD), cerebral palsy (CP), and fetal alcohol spectrum disorder (FASD) in Canadian Aboriginal children. The authors used a detailed search strategy to identify and access publications on ASD, CP, and FASD involving Canadian Aboriginal children, families, and communities from online databases. They analyzed these materials for the type of research, stated objectives, methodologies, and the level of engagement of Aboriginal Peoples. The authors found a total of 52 reports published since 1981 relevant to Aboriginal children. Of these, 51 focused exclusively on FASD. They also found a near-complete failure to acknowledge community involvement in research decisions or dissemination of results in any of the publications. The focus on FASD in Aboriginal children and the absence of research on the other 2 major childhood disorders are at odds with rates of these disorders across Canadian children. The authors argue that this trend violates fundamental principles ensuring equitable representation of all children regardless of background in research and access to benefits of research in health care and perpetuates stigma in an already marginalized population.
Moffitt, Terrie E; Houts, Renate; Asherson, Philip; Belsky, Daniel W; Corcoran, David L; Hammerle, Maggie; Harrington, HonaLee; Hogan, Sean; Meier, Madeline H; Polanczyk, Guilherme V; Poulton, Richie; Ramrakha, Sandhya; Sugden, Karen; Williams, Benjamin; Rohde, Luis Augusto; Caspi, Avshalom
Objective:Despite a prevailing assumption that adult ADHD is a childhood-onset neurodevelopmental disorder, no prospective longitudinal study has described the childhoods of the adult ADHD population...
Akabaliev, Valentin Hristov; Sivkov, Stefan Todorov; Mantarkov, Mladen Yordanov
Minor physical anomalies (MPAs) have been investigated by numerous studies in patients with schizophrenia in support of the neurodevelopmental hypothesis of the disorder, but have rarely been examined in patients with bipolar disorder or in direct comparisons between the two conditions. The main objective of the present study was to compare the prevalence of MPAs in psychiatrically healthy controls, patients with bipolar I disorder, and patients with schizophrenia. A slightly modified version of the Waldrop Physical Anomaly Scale was used to assess MPAs in psychiatrically healthy controls (n = 103), patients with bipolar I disorder (n = 61), and patients with schizophrenia (n = 128). In five out of six topographic regions (mouth, feet, head, eyes, and ears) there was a pattern of lowest regional MPA scores in controls, intermediate in bipolar I disorder, and highest in schizophrenia. The cephalofacial composite score and the total MPA score showed the same pattern, with all between-group differences being statistically significant. Seven individual MPAs in the discriminant analysis model contributed independently to the prediction of the triple-dependent status of 'psychiatrically healthy control, bipolar I disorder patient, schizophrenia patient': high/arched palate, fine electric hair, large gap between first and second toes, third toe ≥ second toe, epicanthus, malformed ears, and furrowed tongue. Our findings support the existence of a continuum of neurodevelopmental adversity within the clinical spectrum of psychosis, with bipolar I disorder occupying an intermediate position between psychiatric health and schizophrenia. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Baribeau, Danielle A; Doyle-Thomas, Krissy A R; Dupuis, Annie; Iaboni, Alana; Crosbie, Jennifer; McGinn, Holly; Arnold, Paul D; Brian, Jessica; Kushki, Azadeh; Nicolson, Rob; Schachar, Russell J; Soreni, Noam; Szatmari, Peter; Anagnostou, Evdokia
Several neurodevelopmental disorders are associated with social processing deficits. The objective of this study was to compare patterns of social perception abilities across obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and control participants. A total of 265 children completed the Reading the Mind in the Eyes Test-Child Version (RMET). Parents or caregivers completed established trait/symptom scales. The predicted percentage of accuracy on the RMET was compared across disorders and by item difficulty and item valence (i.e., positive/negative/neutral mental states), then analyzed for associations with trait/symptom scores. The percentage of correct RMET scores varied significantly between diagnostic groups (p social communication impairment and hyperactivity/impulsivity, but not OCD traits/symptoms, were associated with lower scores on the RMET, irrespective of diagnosis. Social perception abilities in neurodevelopmental disorders exist along a continuum. Children with ASD have the greatest deficits, whereas children with OCD may be hypersensitive to social information. Social communication deficits and hyperactive/impulsive traits are associated with impaired social perception abilities; these findings highlight overlapping cognitive and behavioral manifestations across disorders. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Reinders, A A T S; Chalavi, S; Schlumpf, Y R; Vissia, E M; Nijenhuis, E R S; Jäncke, L; Veltman, D J; Ecker, C
To examine the two constitutes of cortical volume (CV), that is, cortical thickness (CT) and surface area (SA), in individuals with dissociative identity disorder (DID) with the view of gaining important novel insights into the underlying neurobiological mechanisms mediating DID. This study included 32 female patients with DID and 43 matched healthy controls. Between-group differences in CV, thickness, and SA, the degree of spatial overlap between differences in CT and SA, and their relative contribution to differences in regional CV were assessed using a novel spatially unbiased vertex-wise approach. Whole-brain correlation analyses were performed between measures of cortical anatomy and dissociative symptoms and traumatization. Individuals with DID differed from controls in CV, CT, and SA, with significantly decreased CT in the insula, anterior cingulate, and parietal regions and reduced cortical SA in temporal and orbitofrontal cortices. Abnormalities in CT and SA shared only about 3% of all significantly different cerebral surface locations and involved distinct contributions to the abnormality of CV in DID. Significant negative associations between abnormal brain morphology (SA and CV) and dissociative symptoms and early childhood traumatization (0 and 3 years of age) were found. In DID, neuroanatomical areas with decreased CT and SA are in different locations in the brain. As CT and SA have distinct genetic and developmental origins, our findings may indicate that different neurobiological mechanisms and environmental factors impact on cortical morphology in DID, such as early childhood traumatization. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Kajta, Małgorzata; Wójtowicz, Anna
In recent years, the major concern has been focused on persistent organic pollutants (POPs), which are present in ecosphere in increasing concentrations, especially since 1950s. Among of these pollutants are dioxins and polychlorinated biphenyls (PCBs) released during vast burning and plastics processing, as well as pesticides which were industrial chemicals intensively produced for many years. In last decade, dioxins together with PCBs and pesticides have been classified as endocrine disrupting chemicals, because they are able to alter hormone-dependent processes and disrupt functioning of endocrine glands, e.g. thyroid and gonads. Furthermore, these pollutants have been included in neural disrupting chemicals due to their ability of altering neural transmission and formation of neural networks. Since POPs may persist in the environment for dozens of years, an exposure to these organic pollutants creates a serious issue for environmental toxicologists. POP intoxication creates severe clinical problems, which became evident in dramatic circumstances, e.g. Yusho incident in Japan, Yu-Cheng incident in Tajwan, Michigan Lake poisoning. Clinical problems have been recognized as disruption of thyroid and gonadal functions, immunodeficiency as well as psychomotor deficits and increased occurrence of hormone-dependent cancers. Thus, knowledge on POP effects on human nervous system has been related mainly to toxic effects of these organic pollutants. Little is known, however, about the action of very low, so called background, doses of POPs and their effects on hormonal homeostasis in developing brain. It is of particular importance, because doses which are low for adults might become toxic for fetuses, infants or children. Recently, the public concern has been focused on POP effects on brain function, concomitantly with the increase in neuropsychiatric disorders, including autism, attention deficit and hyperactivity disorder (ADHD) as well as learning disabilities
Full Text Available Previous models or hypotheses of autism spectral disorder (ASD failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5, and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5. In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD. In the model, we assumed the following joint causes as the etiology of autism: (1 Hypoplasia of the pons in the brainstem, occurring immediately following neural tube closure; and (2 Deficiency in the GABA (γ-aminobutyric acid developmental switch during the perinatal period. Microstructural abnormalities of the pons directly affect both the structural and functional development of the brain areas strongly connected to it, especially amygdala. The impairment of GABA switch could not only lead to the deterioration of inhibitory processing in the neural network, but could also cause abnormal cytoarchitecture. We introduced a perspective that atypical development in both brain structure and function can give full explanation of diverse phenotypes and pathogenetic mechanism of ASD. Finally, we discussed about neural mechanisms underlying the phenotypic characteristics of ASD that are not described in DSM-5 but should be considered as important foundation: sleep, global precedence, categorical perception, intelligence, interoception and motor control.
Törö, Krisztina; Balázs, Judit
Reading Disorder (RD) belongs to Specific Learning Disorders within the chapter of Neurodevelopmental Disorders in the Diagnostic and Statistic Manual of Mental Disorders 5th edition. Previous research shows that the time of the diagnosis of RD - early (before starting school) or late - has a great impact on the prognosis. In the current paper we present the cases of two children diagnosed with RD. Our cases demonstrate that if RD is diagnosed in early childhood, the child's and his/her family's quality of life can be influenced in a positive direction, while late recognition of RD might influence the child's and the family's quality of life negatively. For these reasons it is important that experts recognize RD in time, start appropriate treatment and give proper support to children diagnosed with RD and their families.
Trent, Simon; Dean, Rachel; Veit, Bonnie; Cassano, Tommaso; Bedse, Gaurav; Ojarikre, Obah A; Humby, Trevor; Davies, William
Chromosomal deletions at Xp22.3 appear to influence vulnerability to the neurodevelopmental disorders attention deficit hyperactivity disorder (ADHD) and autism. 39,X(Y*)O mice, which lack the murine orthologue of the Xp22.3 ADHD candidate gene STS (encoding steroid sulfatase), exhibit behavioural phenotypes relevant to such disorders (e.g. hyperactivity), elevated hippocampal serotonin (5-HT) levels, and reduced serum levels of dehydroepiandrosterone (DHEA). Here we initially show that 39,X(Y*)O mice are also deficient for the recently-characterised murine orthologue of the Xp22.3 autism candidate gene ASMT (encoding acetylserotonin-O-methyltransferase). Subsequently, to specify potential behavioural correlates of elevated hippocampal 5-HT arising due to the genetic lesion, we compared 39,X(Y*)O MF1 mice to 40,XY MF1 mice on behavioural tasks taxing hippocampal and/or 5-HT function (a 'foraging' task, an object-location task, and the 1-choice serial reaction time task of impulsivity). Although Sts/Asmt deficiency did not influence foraging behaviour, reactivity to familiar objects in novel locations, or 'ability to wait', it did result in markedly increased response rates; these rates correlated with hippocampal 5-HT levels and are likely to index behavioural perseveration, a frequent feature of neurodevelopmental disorders. Additionally, we show that whilst there was no systematic relationship between serum DHEA levels and hippocampal 5-HT levels across 39,X(Y*)O and 40,XY mice, there was a significant inverse linear correlation between serum DHEA levels and activity. Our data suggest that deficiency for genes within Xp22.3 could influence core behavioural features of neurodevelopmental disorders via dissociable effects on hippocampal neurochemistry and steroid hormone levels, and that the mediating neurobiological mechanisms may be investigated in the 39,X(Y*)O model. Copyright © 2012 Elsevier Ltd. All rights reserved.
Savabieasfahani, M; Alaani, S; Tafash, M; Dastgiri, S; Al-Sabbak, M
Anthropogenic release of pollutants into the environment is especially harmful to growing fetuses and young children. These populations are at an increased risk of damage because exposure to pollutants during critical periods of development can cause many impairments. Children's exposure to mixtures of metals could be responsible for the rising numbers of neurological disorders surfacing in Iraqi children. Titanium (Ti) and magnesium (Mg) are heavily used in war industries. Exposure to Ti and Mg has been linked to the dust in occupation soldiers' lungs. Hair samples of children in Hawija, Iraq (n = 13) contained significantly higher levels of Ti compared to Iranian children (n = 13) living near the Iraqi border (2080 ± 940 vs 707 ± 421 μg/kg, p children compared to Iranian children (115,763 ± 118,155 vs 67,650 ± 46,729 μg/kg). In samples from Hawija, Ti was 1.3 times higher in children with neurodevelopmental disorders (2198 ± 1108 vs 1942 ± 779 μg/kg), and Mg was 1.9 times higher in children without neurodevelopmental disorders (155,618 ± 140,791 vs 81,602 ± 91,940 μg/kg). Lead, arsenic, and cadmium in Hawija children with neurodevelopmental disorders (n = 6) were 2.5, 2.2, and 1.37 times higher compared to non-disabled children (n = 7). To get a clear understanding of the current status of neurodevelopmental disorders in Iraqi children and to determine the magnitude of this suspected global health issue, registries should be set up to compile and aggregate data from hospitals, clinics, and health centers across the country. Functional registries can develop collaborations with researchers toward finding causes of these disorders in Iraqi children and toward preventing them.
David A. Geier
Full Text Available A hypothesis testing case-control study evaluated concerns about the toxic effects of organic-mercury (Hg exposure from thimerosal-containing (49.55% Hg by weight vaccines on the risk of neurodevelopmental disorders (NDs. Automated medical records were examined to identify cases and controls enrolled from their date-of-birth (1991–2000 in the Vaccine Safety Datalink (VSD project. ND cases were diagnosed with pervasive developmental disorder (PDD, specific developmental delay, tic disorder or hyperkinetic syndrome of childhood. In addition, putative non-thimerosal-related outcomes of febrile seizure, failure to thrive and cerebral degenerations were examined. The cumulative total dose of Hg exposure from thimerosal-containing hepatitis B vaccine (T-HBV administered within the first six months of life was calculated. On a per microgram of organic-Hg basis, PDD (odds ratio (OR = 1.054, specific developmental delay (OR = 1.035, tic disorder (OR = 1.034 and hyperkinetic syndrome of childhood (OR = 1.05 cases were significantly more likely than controls to receive increased organic-Hg exposure. By contrast, none of the non-thimerosal related outcomes were significantly more likely than the controls to have received increased organic-Hg exposure. Routine childhood vaccination may be an important public health tool to reduce infectious disease-associated morbidity/mortality, but the present study significantly associates organic-Hg exposure from T-HBV with an increased risk of an ND diagnosis.
Yewande O. Oshodi
Full Text Available Autism Spectrum Disorder (ASD is a globally prevalent neurodevelopmental disorder for which early diagnosis and intervention is the mainstay of management. In the African continent, limited data is available regarding the non-clinic based samples. Lack of information available to caregivers and inadequate skilled manpower often limit early detection and access to the few available though under resourced services in the community. Community based screening can be an important drive to create awareness and improve information dissemination regarding services available for those living with this disorder. This is a descriptive cross-sectional study utilizing data obtained from participants of a community-based autism screening exercise. The surveillance exercise was part of the annual Orange Ribbon initiative for autism awareness and screening held in 2014. Data was obtained from 85 participants involved in the Autism Surveillance screening exercise within the Lagos community. Community public service radio announcements state wide and word of mouth were used to invite and enroll eligible participants to the screening and consultation exercise. A second stage screening and a brief sociodemographic questionnaire followed by a third stage clinical interview and evaluation using the Diagnostic and Statistical Manual of Mental Disorders - 5 Edition (DSM 5 were used. Appropriate consultation and referrals to services in the community were given. Participants had a mean age of 7.53 years (SD 4.35. Twenty-nine (34.5% met the diagnosis of ASD. Other diagnosis included attention deficit hyperactivity disorder (ADHD, language and speech disorder, intellectual disability (8.3% and learning disorders (9.5%. Main health concerns to caregivers were poor language development in all (100%, of which 11 (40.7% were non-verbal; gaze avoidance was seen in 14 (48.3% and challenging behavior in 12 (42.9%. Comorbidities included seizure disorders (3.4% and ADHD (6
Using the conceptual tools of philosopher of science Ludwik Fleck, I argue that the reframing of autism as a neurodevelopmental spectrum disorder is constrained by two governing 'styles of thought' of contemporary psychiatry. The first is the historically conditioned 'readiness for directed perception' of, and thinking in terms of, ontologically distinct diseases. The clinical gaze of mental health professionals, the bureaucratic needs of health administration, the clinical and scientific utility of disease categories, and the practices of autism-oriented advocacy groups all imply a bias toward thinking about autism and related disorders as ontologically distinct psychiatric and scientific entities. Second, within the 'neuromolecular style of thought', mental disorders are more and more located at the neurobiological levels of the brain. In autism research, one of the biggest challenges is the identification of autism's neurobiological singularity. However, at a moment when biological and categorical approaches toward autism face serious empirical difficulties, a balance is established that holds together these two styles of thought. With a need to account for some of the most persistent uncertainties and conflicts in autism research, namely ubiquitous heterogeneity and a failure to identify disease specific biomarkers, the reframing of autism as a neurodevelopmental spectrum disorder satisfies the scientific, institutional and socio-political needs for stability and homogenization. Copyright © 2014 Elsevier Ltd. All rights reserved.
Goriely, Anne; McGrath, John J; Hultman, Christina M; Wilkie, Andrew O M; Malaspina, Dolores
There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders, such as schizophrenia and autism. The authors present a novel mechanism that may contribute to this association. Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation through dysregulation of the RAS protein pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known as "selfish spermatogonial selection." This mechanism favors propagation of germ cells carrying pathogenic mutations, increasingly skews the mutational profile of sperm as men age, and enriches de novo mutations in the offspring of older fathers that preferentially affect specific cellular signaling pathways. This mechanism not only offers a parsimonious explanation for the association between advanced paternal age and various neurodevelopmental disorders but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle), and some epidemiological features of these disorders. The authors outline hypotheses to test this model. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public health implications.
Ahmed-Popova, Ferihan M; Mantarkov, Mladen J; Sivkov, Stefan T; Akabaliev, Valentin H
Dermatoglyphic pattern formation and differentiation are complex processes which have been in the focus of research interest ever since dermatoglyphics became a science. The patterns' early differentiation and genetic uniqueness as well as the relatively simple methods used to obtain and store fingerprints make it possible to study the relationship between certain dermatoglyphic characteristics and the underlying pathological processes in a number of diseases, including mental disorders. The present review reports published data from fundamental and clinical studies on dermatoglyphics primarily in schizophrenia and bipolar disorder to lend additional support for the neurodevelopmental hypothesis in the etiology of these disorders. Following an analysis of the theories of dermatoglyphics formation and the complex association between ridge patterns and central nervous system in early embryogenesis, an attempt is made to present dermatoglyphics as possible biological markers of impaired neurodevelopment. The contradictory data in the literature on dermatoglyphics in mental disorders suggest the need for further studies on these biological markers in order to identify their place in the neurodevelopmental etiological model of these diseases.
Golembo-Smith, Shana; Schiffman, Jason; Kline, Emily
of 265 Danish children in 1972, when participants were 10-13years old. Parent psychiatric diagnoses were also obtained in order to evaluate the predictive strength of neurodevelopmental factors in combination with genetic risk. Adult diagnostic information was available for 244 members of the sample...... included minor physical anomalies (MPAs), coordination, ocular alignment, laterality, and IQ. Adult diagnoses were assessed through psychiatric interviews in 1992, as well as through a scan of the national psychiatric registry through 2007. Through a combination of multiple childhood predictors, the model...... correctly classified 73% (24 of 33) of the participants who eventually developed a schizophrenia-spectrum outcome in adulthood. Results suggest that, with replication, multivariate premorbid prediction could potentially be a useful complementary approach to identifying individuals at risk for developing...
Background RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions. Results We identified 14 copy number variants (CNV) involving RBFOX1 from 2,124 consecutive pediatric patients referred for chromosomal microarray analysis (CMA), including 13 intragenic deletions and a single intragenic duplication. The clinical significances of the intragenic deletions of RBFOX1 were evaluated. Conclusions Our data strongly supports the associations of intragenic deletions of RBFOX1 with a diversity of neurodevelopmental and neuropsychiatric disorders, and possibly other clinical features. PMID:23822903
de Vries, Petrus J
Until recently, the neuropsychiatric phenotype of tuberous sclerosis complex (TSC) was presumed to be caused by the structural brain abnormalities and/or seizures seen in the disorder. However, advances in the molecular biology of the disorder have shown that TSC is a mammalian target of rapamycin (mTOR) overactivation syndrome, and that direct molecular pathways exist between gene mutation and cognitive/neurodevelopmental phenotype. Molecularly-targeted treatments using mTOR inhibitors (such as rapamycin) are showing great promise for the physical and neurological phenotype of TSC. Pre-clinical and early-phase clinical studies of the cognitive and neurodevelopmental features of TSC suggest that some of the neuropsychiatric phenotypes might also be reversible, even in adults with the disorder. TSC, fragile X, neurofibromatosis type 1, and disorders associated with phosphatase and tensin homo (PTEN) mutations, all signal through the mTOR signaling pathway, with the TSC1-TSC2 protein complex as a molecular switchboard at its center. Together, these disorders represent as much as 14% of autism spectrum disorders (ASD). Therefore, we suggest that this signaling pathway is a key to the underlying pathophysiology of a significant subset of individuals with ASD. The study of molecularly targeted treatments in TSC and related disorders, therefore, may be of scientific and clinical value not only to those with TSC, but to a larger population that may have a neuropsychiatric phenotype attributable to mTOR overactivation or dysregulation. (c) 2010 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier Inc. All rights reserved.
Mizoguchi, Yoshito; Monji, Akira
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by deficits in social interaction, difficulties with language and repetitive/restricted behaviors. Microglia are resident innate immune cells which release many factors including proinflammatory cytokines, nitric oxide (NO) and brain-derived neurotrophic factor (BDNF) when they are activated in response to immunological stimuli. Recent in vivo imaging has shown that microglia sculpt and refine the synaptic circuitry by removing excess and unwanted synapses and be involved in the development of neural circuits or synaptic plasticity thereby maintaining the brain homeostasis. BDNF, one of the neurotrophins, has various important roles in cell survival, neurite outgrowth, neuronal differentiation, synaptic plasticity and the maintenance of neural circuits in the CNS. Intracellular Ca2+ signaling is important for microglial functions including ramification, de-ramification, migration, phagocytosis and release of cytokines, NO and BDNF. BDNF induces a sustained intracellular Ca2+ elevation through the upregulation of the surface expression of canonical transient receptor potential 3 (TRPC3) channels in rodent microglia. BDNF might have an anti-inflammatory effect through the inhibition of microglial activation and TRPC3 could play important roles in not only inflammatory processes but also formation of synapse through the modulation of microglial phagocytic activity in the brain. This review article summarizes recent findings on emerging dual, inflammatory and non-inflammatory, roles of microglia in the brain and reinforces the importance of intracellular Ca2+ signaling for microglial functions in both normal neurodevelopment and their potential contributing to neurodevelopmental disorders such as ASDs.
Raine, Adrian; Lee, Lydia; Yang, Yaling; Colletti, Patrick
Antisocial personality disorder and psychopathy have been hypothesised to have a neurodevelopmental basis, but this proposition has not been formally tested. This study tests the hypothesis that individuals with cavum septum pellucidum (CSP), a marker of limbic neural maldevelopment, will show higher levels of psychopathy and antisocial personality. Cavum septum pellucidum was assessed using anatomical magnetic resonance imaging in a community sample. Those with CSP (n = 19) were compared with those lacking CSP (n = 68) on antisocial personality, psychopathy and criminal offending. Those with CSP had significantly higher levels of antisocial personality, psychopathy, arrests and convictions compared with controls. The pervasiveness of this association was indicated by the fact that those lacking a diagnosis of antisocial personality disorder, but who were charged or convicted for an offence, had a more extensive CSP than non-antisocial controls. Results could not be attributed to prior trauma exposure, head injury, demographic factors or comorbid psychiatric conditions. Our findings appear to be the first to provide evidence for a neurodevelopmental brain abnormality in those with antisocial personality disorder and psychopathy, and support the hypothesis that early maldevelopment of limbic and septal structures predisposes to the spectrum of antisocial behaviours.
Cruchet et al. attempt to tease out the myths and facts surrounding the growing popularity of certain dietary approaches in the management of neurodevelopmental disorders, like attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs). The authors identify a particular exclusionary-type approach that seeks to eliminate dietary gluten. Although the relationship between celiac disease (CD) and ADHD/ASD is not well established, a repeated clinical feature noted in CD is the elevated levels of nitric oxide in serum and urine. Elevated oxidative stress has also been observed in neurodevelopmental conditions, and the author of this correspondence has been the first to propose that chronic, environmental exposure to the air pollutant, nitrous oxide may contribute to these oxidative stress profiles through neural cholinergic perturbation. Therefore, the purpose of this correspondence is to highlight this biochemical connection between these conditions so as to identify the clinical populations who may realize the greatest benefit of these dietary approaches, while minimizing any potential risk of nutrient deficiencies. © 2016 S. Karger AG, Basel.
Owen, Michael J; O'Donovan, Michael C; Thapar, Anita; Craddock, Nicholas
The neurodevelopmental hypothesis of schizophrenia provided a valuable framework that allowed a condition that usually presents with frank disorder in adolescence or early adulthood to be understood...
Miller, Anton; Shen, Jane; Mâsse, Louise C
Allocation of resources for services and supports for children with neurodevelopmental disorders/disabilities (NDD/D) is often based on the presence of specific health conditions. This study investigated the relative roles of a child's diagnosed health condition and neurodevelopmental and related functional characteristics in explaining child and family health and well-being. The data on children with NDD/D (ages 5 to 14; weighted n = 120,700) are from the 2006 Participation and Activity Limitation Survey (PALS), a population-based Canadian survey of parents of children with functional limitations/disabilities. Direct and indirect effects of child diagnosis status-autism spectrum disorder (ASD)/not ASD-and functional characteristics (particularly, ASD-related impairments in speech, cognition, and emotion and behaviour) on child participation and family health and well-being were investigated in a series of structural equation models, while controlling for covariates. All models adequately fitted the data. Child ASD diagnosis was significantly associated with child participation and family health and well-being. When ASD-related child functional characteristics were added to the model, all direct effects from child diagnosis on child and family outcomes disappeared; the effect of child diagnosis on child and family outcomes was fully mediated via ASD-related child functional characteristics. Children's neurodevelopmental functional characteristics are integral to understanding the child and family health-related impact of neurodevelopmental disorders such as ASD. These findings have implications for the relative weighting given to functional versus diagnosis-specific factors in considering needs for services and supports.
Lazar, Steven M; Evans, David W; Myers, Scott M; Moreno-De Luca, Andres; Moore, Gregory J
Social cognition is an important aspect of social behavior in humans. Social cognitive deficits are associated with neurodevelopmental and neuropsychiatric disorders. In this study we examine the neural substrates of social cognition and face processing in a group of healthy young adults to examine the neural substrates of social cognition. Fifty-seven undergraduates completed a battery of social cognition tasks and were assessed with electroencephalography (EEG) during a face-perception task. A subset (N=22) were administered a face-perception task during functional magnetic resonance imaging. Variance in the N170 EEG was predicted by social attribution performance and by a quantitative measure of empathy. Neurally, face processing was more bilateral in females than in males. Variance in fMRI voxel count in the face-sensitive fusiform gyrus was predicted by quantitative measures of social behavior, including the Social Responsiveness Scale (SRS) and the Empathizing Quotient. When measured as a quantitative trait, social behaviors in typical and pathological populations share common neural pathways. The results highlight the importance of viewing neurodevelopmental and neuropsychiatric disorders as spectrum phenomena that may be informed by studies of the normal distribution of relevant traits in the general population. Copyright © 2014 Elsevier B.V. All rights reserved.
Chauhan, Ved; Chauhan, Abha
Extensive evidence suggests the role of oxidative stress in autism and other neurodevelopmental disorders. In this study, we investigated whether methylmercury (MeHg) and/or alcohol exposure has deleterious effects in Drosophila melanogaster (fruit flies). A diet containing different concentrations of MeHg in Drosophila induced free radical generation and increased lipid peroxidation (markers of oxidative stress) in a dose-dependent manner. This effect of MeHg on oxidative stress was enhanced by further exposure to alcohol. It was observed that alcohol alone could also induce free radical generation in flies. After alcohol exposure, MeHg did not affect the immobilization of flies, but it increased the recovery time in a concentration-dependent manner. MeHg significantly inhibited the activity of alcohol dehydrogenase (ADH) in a dose-dependent manner. Linear regression analysis showed a significant negative correlation between ADH activity and recovery time upon alcohol exposure in the flies fed a diet with MeHg. This relationship between ADH activity and recovery time after alcohol exposure was confirmed by adding 4-methyl pyrazole (an inhibitor of ADH) to the diet for the flies. These results suggest that consumption of alcohol by pregnant mothers who are exposed to MeHg may lead to increased oxidative stress and to increased length of time for alcohol clearance, which may have a direct impact on the development of the fetus, thereby increasing the risk of neurodevelopmental disorders. Published by Elsevier Ltd.
Parker, Whitney E; Orlova, Ksenia A; Parker, William H; Birnbaum, Jacqueline F; Krymskaya, Vera P; Goncharov, Dmitry A; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A; Crino, Peter B
A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heterotopic neurons in subcortical white matter and subependymal regions. PMSE is caused by a homozygous deletion of exons 9 to 13 of the LYK5/STRADA gene, which encodes the pseudokinase STRADA, an upstream inhibitor of mammalian target of rapamycin complex 1 (mTORC1). We show that disrupted pathfinding in migrating mouse neural progenitor cells in vitro caused by STRADA depletion is prevented by mTORC1 inhibition with rapamycin or inhibition of its downstream effector p70 S6 kinase (p70S6K) with the drug PF-4708671 (p70S6Ki). We demonstrate that rapamycin can rescue aberrant cortical lamination and heterotopia associated with STRADA depletion in the mouse cerebral cortex. Constitutive mTORC1 signaling and a migration defect observed in fibroblasts from patients with PMSE were also prevented by mTORC1 inhibition. On the basis of these preclinical findings, we treated five PMSE patients with sirolimus (rapamycin) without complication and observed a reduction in seizure frequency and an improvement in receptive language. Our findings demonstrate a mechanistic link between STRADA loss and mTORC1 hyperactivity in PMSE, and suggest that mTORC1 inhibition may be a potential treatment for PMSE as well as other mTOR-associated neurodevelopmental disorders.
Full Text Available Psychiatric disorders are disadvantageous behavioral phenotypes in humans. Accordingly, a recent epidemiological study has reported decreased fecundity in patients with psychiatric disorders, such as schizophrenia and autism spectrum disorders. Moreover, the fecundity of the relatives of these patients is not exceedingly higher compared to the fecundity of the relatives of normal subjects. Collectively, the prevalence of psychiatric disorders among humans is expected to decrease over generations. Nevertheless, in reality, the prevalence rates of psychiatric disorders in humans either have been constant over a long period of time or have even increased more recently. Several attempts to explain this fact have been made using biological mechanisms, such as de novo gene mutations or variants, although none of these explanations is fully comprehensive. Here, we propose a hypothesis towards understanding the biological mechanisms of psychiatric disorders from evolutionary perspectives. This hypothesis considers that behavioral phenotypes associated with psychiatric disorders might have emerged in the evolution of organisms as a neurodevelopmental adaptation against adverse environmental conditions associated with stress.
Millan, Mark J
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life development of the brain, leading to deficits in language, cognition, motor behaviour and other functional domains, often accompanied by somatic symptoms. Environmental factors like perinatal infection, malnutrition and trauma can increase the risk of the heterogeneous, multifactorial and polygenic disorders, autism and schizophrenia. Conversely, discrete genetic anomalies are involved in Down, Rett and Fragile X syndromes, tuberous sclerosis and neurofibromatosis, the less familiar Phelan-McDermid, Sotos, Kleefstra, Coffin-Lowry and "ATRX" syndromes, and the disorders of imprinting, Angelman and Prader-Willi syndromes. NDDs have been termed "synaptopathies" in reference to structural and functional disturbance of synaptic plasticity, several involve abnormal Ras-Kinase signalling ("rasopathies"), and many are characterized by disrupted cerebral connectivity and an imbalance between excitatory and inhibitory transmission. However, at a different level of integration, NDDs are accompanied by aberrant "epigenetic" regulation of processes critical for normal and orderly development of the brain. Epigenetics refers to potentially-heritable (by mitosis and/or meiosis) mechanisms controlling gene expression without changes in DNA sequence. In certain NDDs, prototypical epigenetic processes of DNA methylation and covalent histone marking are impacted. Conversely, others involve anomalies in chromatin-modelling, mRNA splicing/editing, mRNA translation, ribosome biogenesis and/or the regulatory actions of small nucleolar RNAs and micro-RNAs. Since epigenetic mechanisms are modifiable, this raises the hope of novel therapy, though questions remain concerning efficacy and safety. The above issues are critically surveyed in this review, which advocates a broad-based epigenetic framework for understanding and ultimately treating a diverse assemblage of NDDs ("epigenopathies") lying at the
Samango-Sprouse, Carole; Keen, Colleen; Mitchell, Francie; Sadeghin, Teresa; Gropman, Andrea
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX. © 2015 Wiley Periodicals, Inc.
Full Text Available Sleep is important for neural plasticity, and plasticity underlies sleep-dependent memory consolidation. It is widely appreciated that protein synthesis plays an essential role in neural plasticity. Studies of sleep-dependent memory and sleep-dependent plasticity have begun to examine alterations in these functions in populations with neurological and psychiatric disorders. Such an approach acknowledges that disordered sleep may have functional consequences during wakefulness. Although neurodevelopmental disorders are not considered to be sleep disorders per se, recent data has revealed that sleep abnormalities are among the most prevalent and common symptoms and may contribute to the progression of these disorders. The main goal of this review is to highlight the role of disordered sleep in the pathology of neurodevelopmental disorders and to examine some potential mechanisms by which sleep-dependent plasticity may be altered. We will also briefly attempt to extend the same logic to the other end of the developmental spectrum and describe a potential role of disordered sleep in the pathology of neurodegenerative diseases. We conclude by discussing ongoing studies that might provide a more integrative approach to the study of sleep, plasticity, and neurodevelopmental disorders.
Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations (p.Met2242Cysfs*5, p.Arg417*, and p.Gln336Arg) indicated possible founder effects. Presentation was mainly neonatal, with marked hypotonia and feeding difficulties. In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive). The manifestation of all eight of these features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation and will allow informed decisions about genetic testing. Clinical progression was relentless and many children died in infancy. Survival analysis demonstrated a median survival time of 24 months (95% confidence interval 0-49 months), with only a 10th of patients surviving to 5 years of age. Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative component superimposed on the principal neurodevelopmental defect. Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies. Consistent neuroradiological features comprised structural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed
Harms, Melanie D.
Individuals with neurodevelopmental disorders are challenged with memory and language deficits that impact their skills acquisition (Martin, Klusek, Estigarriba, & Roberts, 2009; Turner & Alborz, 2003). The value of music when applied as an antecedent and a reinforcer has long been established to address such memory and language deficits…
Full Text Available Background: To establish integrated healthcare pathways for patients with neurodevelopmental disorders (ND such as autism spectrum disorder and attention-deficit hyperactivity disorder is challenging. This study sets out to investigate the main concerns for healthcare professionals when integrating ND care pathways and how they resolve these concerns. Methods: Using classic grounded theory (Glaser, we analysed efforts to improve and integrate an ND care pathway for children and youth in a Swedish region over a period of 6 years. Data from 42 individual interviews with a range of ND professionals, nine group interviews with healthcare teams, participant observation, a 2-day dialogue conference, focus group meetings, regional media coverage, and reports from other Swedish regional ND projects were analysed. Results: The main concern for participants was to deal with overwhelming ND complexity by unpacking control, which is control over strategies to define patients’ status and needs. Unpacking control is key to the professionals’ strivings to expand constructive life space for patients, to squeeze health care to reach available care goals, to promote professional ideologies, and to uphold workplace integrity. Control-seeking behaviour in relation to ND unpacking is ubiquitous and complicates integration of ND care pathways. Conclusions: The Unpacking control theory expands central aspects of professions theory and may help to improve ND care development.
Waxegård, Gustaf; Thulesius, Hans
Background To establish integrated healthcare pathways for patients with neurodevelopmental disorders (ND) such as autism spectrum disorder and attention-deficit hyperactivity disorder is challenging. This study sets out to investigate the main concerns for healthcare professionals when integrating ND care pathways and how they resolve these concerns. Methods Using classic grounded theory (Glaser), we analysed efforts to improve and integrate an ND care pathway for children and youth in a Swedish region over a period of 6 years. Data from 42 individual interviews with a range of ND professionals, nine group interviews with healthcare teams, participant observation, a 2-day dialogue conference, focus group meetings, regional media coverage, and reports from other Swedish regional ND projects were analysed. Results The main concern for participants was to deal with overwhelming ND complexity by unpacking control, which is control over strategies to define patients’ status and needs. Unpacking control is key to the professionals’ strivings to expand constructive life space for patients, to squeeze health care to reach available care goals, to promote professional ideologies, and to uphold workplace integrity. Control-seeking behaviour in relation to ND unpacking is ubiquitous and complicates integration of ND care pathways. Conclusions The Unpacking control theory expands central aspects of professions theory and may help to improve ND care development. PMID:27609793
Full Text Available Background: Parents of children suffering from neurodevelopmental disorders, frequently face public stigma which is often internalized and leads to psychological burden. However, there is a lack of data on the perceptions of internalized stigma among parents of children with neurodevelopmental disorders, especially from lower-middle-income countries like India. Aims: This study aims to develop an adapted version of the Internalized Stigma of Mental Illness (ISMI scale for use in parents of children suffering from neurodevelopmental disorders and to explore the factor structure of this instrument through exploratory factor analysis (EFA. Settings and Design: A cross-sectional study was conducted in an outpatient setting in a tertiary care hospital in India. Materials and Methods: A total of 105 parents of children suffering from neurodevelopmental disorders (according to the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition were recruited for the study after screening for psychiatric disorder using Mini International Neuropsychiatric Interview version 6.0. A modified 16-item scale was constructed Parents' Internalized Stigma of Neurodevelopmental Disorder in Child (PISNC scale and applied on 105 parents of children suffering from neurodevelopmental disorders, after translation to Hindi and back-translation, in keeping with the World Health Organization's translation-back-translation methodology. Statistical Analysis: EFA was carried out using principal component analysis with orthogonal (varimax rotation. Internal consistency of the Hindi version of the scale was estimated in the form of Cronbach's alpha. Spearman–Brown coefficient and Guttman split-half coefficient were calculated to evaluate the split-half reliability. Results: The initial factor analysis yielded three-factor models with an eigenvalue of >1 and the total variance explained by these factors was 62.017%. The internal consistency of the 16-item scale was 0
Gabriel, Elke; Gopalakrishnan, Jay
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue. This gap is now filled through the application of iPSC-derived, 3D brain organoids, "Brains in a dish," that model many features of complex human brain development. Here, a method for generating iPSC-derived, 3D brain organoids is described. The organoids can help with modeling autosomal recessive primary microcephaly (MCPH), a rare human neurodevelopmental disorder. A widely accepted explanation for the brain malformation in MCPH is a depletion of the neural stem cell pool during the early stages of human brain development, a developmental defect that is difficult to recreate or prove in vitro. To study MCPH, we generated iPSCs from patient-derived fibroblasts carrying a mutation in the centrosomal protein CPAP. By analyzing the ventricular zone of microcephaly 3D brain organoids, we showed the premature differentiation of neural progenitors. These 3D brain organoids are a powerful in vitro system that will be instrumental in modeling congenital brain disorders induced by neurotoxic chemicals, neurotrophic viral infections, or inherited genetic mutations.
Harvey, Louise; Boksa, Patricia
Epidemiological evidence has established links between immune activation during the prenatal or early postnatal period and increased risk of developing a range of neurodevelopment disorders in later life. Animal models have been used to great effect to explore the ramifications of immune activation during gestation and neonatal life. A range of behavioral, neurochemical, molecular, and structural outcome measures associated with schizophrenia, autism, cerebral palsy, and epilepsy have been assessed in models of prenatal and postnatal immune activation. However, the epidemiology-driven disease-first approach taken by some studies can be limiting and, despite the wealth of data, there is a lack of consensus in the literature as to the specific dose, timing, and nature of the immunogen that results in replicable and reproducible changes related to a single disease phenotype. In this review, we highlight a number of similarities and differences in models of prenatal and postnatal immune activation currently being used to investigate the origins of schizophrenia, autism, cerebral palsy, epilepsy, and Parkinson's disease. However, we describe a lack of synthesis not only between but also within disease-specific models. Our inability to compare the equivalency dose of immunogen used is identified as a significant yet easily remedied problem. We ask whether early life exposure to infection should be described as a disease-specific or general vulnerability factor for neurodevelopmental disorders and discuss the implications that either classification has on the design, strengths and limitations of future experiments. Copyright © 2012 Wiley Periodicals, Inc.
Full Text Available Brain function and behaviour undergo significant plasticity and refinement, particularly during specific critical and sensitive periods. In autistic and intellectual disability neurodevelopmental disorders (NDDs and their corresponding genetic mouse models, impairments in many neuronal and behavioural phenotypes are temporally regulated and in some cases, transient. However, the links between neurobiological mechanisms governing typically normal brain and behavioural development (referred to also as ‘neurotypical’ development and timing of NDD impairments are not fully investigated.This perspective highlights temporal patterns of synaptic and neuronal impairment, with a restricted focus on autism and intellectual disability types of NDDs. Given the varying known genetic and environmental causes for NDDs, this perspective proposes two strategies for investigation: (1 a focus on neurobiological mechanisms underlying known critical periods in the (typically normal-developing brain (2 investigation of spatio-temporal expression profiles of genes implicated in monogenic syndromes throughout affected brain regions.This approach may help explain why many NDDs with differing genetic causes can result in overlapping phenotypes at similar developmental stages and better predict vulnerable periods within these disorders, with implications for both therapeutic rescue and ultimately, prevention.
Full Text Available Insulin-Like Growth Factor 1 (IGF-1 is a neurotrophic polypeptide with crucial roles to play in Central Nervous System (CNS growth, development and maturation. Following interrogation of the neurobiology underlying several neurodevelopmental disorders and Autism Spectrum Disorders (ASD, both recombinant IGF-1 (mecasermin and related derivatives, such as (1-3 IGF-1, have emerged as potential therapeutic approaches. Clinical pilot studies and early reports have supported the safety/preliminary efficacy of IGF-1 and related compounds in the treatment of Rett Syndrome, with evidence mounting for its use in Phelan McDermid Syndrome and Fragile X Syndrome. In broader ASD, clinical trials are ongoing. Here, we review the role of IGF-1 in the molecular etiologies of these conditions in addition to the accumulating evidence from early clinical studies highlighting the possibility of IGF-1 and related compounds as potential treatments for these childhood-onset neurodevelopmental disorders.
Atladóttir, H. Ó.; Schendel, D. E.; Parner, E. T.; Henriksen, T. B.
The aim of this study was to describe the profile of specific neonatal morbidities in children later diagnosed with autism spectrum disorder (ASD), and to compare this profile with the profile of children with hyperkinetic disorder, cerebral palsy, epilepsy or intellectual disability. This is a Danish population based cohort study, including all…
Susie Ruth Berkowicz
Full Text Available Background: Brinps 1 – 3, and Astrotactins (Astn 1 and 2, are members of the Membrane Attack Complex / Perforin (MACPF superfamily that are predominantly expressed in the mammalian brain during development. Genetic variation at the human BRINP2/ASTN1 and BRINP1/ASTN2 loci has been implicated in neurodevelopmental disorders. We, and others, have previously shown that Brinp1-/- mice exhibit behaviour reminiscent of autism spectrum disorder (ASD and attention deficit hyperactivity disorder (ADHD.Method: We created Brinp2-/- mice and Brinp3-/- mice via the Cre-mediated LoxP system to investigate the effect of gene deletion on anatomy and behaviour. Additionally, Brinp2-/-Brinp3-/- double knock-out mice were generated by interbreeding Brinp2-/- and Brinp3-/- mice. Genomic validation was carried out for each knock-out line, followed by histological, weight and behavioural examination. Brinp1-/-Brinp2-/-Brinp3-/- triple knock-out mice were also generated by crossing Brinp2/3 double knock-out mice with previously generated Brinp1-/- mice, and examined by weight and histological analysis.Results: Brinp2-/- and Brinp3-/- mice differ in their behaviour: Brinp2-/- mice are hyperactive, whereas Brinp3-/- mice exhibit marked changes in anxiety-response on the elevated plus maze. Brinp3-/- mice also show evidence of altered sociability. Both Brinp2-/- and Brinp3-/- mice have normal short-term memory, olfactory responses, pre-pulse inhibition and motor learning. The double knock-out mice show behaviours of Brinp2-/- and Brinp3-/- mice, without evidence of new or exacerbated phenotypes. Conclusion: Brinp3 is important in moderation of anxiety, with potential relevance to anxiety disorders. Brinp2 dysfunction resulting in hyperactivity may be relevant to the association of ADHD with chromosome locus 1q25.2. Brinp2-/- and Brinp3-/- genes do not compensate in the mammalian brain and likely have distinct molecular or cell-type specific functions.
Arim, Rubab G; Kohen, Dafna E; Garner, Rochelle E; Lach, Lucyna M; Brehaut, Jamie C; MacKenzie, Michael J; Rosenbaum, Peter L
This study examines psychosocial functioning in children with neurodevelopmental disorders (NDDs) and/or externalizing behavior problems (EBPs) as compared to children with neither condition. The longitudinal sample, drawn from the Canadian National Longitudinal Survey of Children and Youth, included children who were 6 to 9 years old in Cycle 1 who were followed-up biennially in Cycles 2 and 3 (N = 3476). The associations between NDDs and/or EBPs, child and family socio-demographic characteristics and parenting behaviors (consistency and ineffective parenting), were examined across several measures of child psychosocial functioning: peer relationships, general self-esteem, prosocial behavior and anxiety-emotional problems. Children with NDDs, EBPs, and both NDDs and EBPs self-reported lower scores on general self-esteem. Children with NDDs and both NDDs and EBPs reported lower scores on peer relationships and prosocial behavior. Lastly, children with both NDDs and EBPs self-reported higher scores on anxiety-emotional behaviors. After considering family socio-demographic characteristics and parenting behaviors, these differences remained statistically significant only for children with both NDDs and EBPs. Child age and gender, household income and parenting behaviors were important in explaining these associations. Psychosocial functioning differs for children with NDDs and/or EBPs. Children with both NDDs and EBPs appear to report poorer psychosocial functioning compared to their peers with neither condition. However, it is important to consider the context of socio-demographic characteristics, parenting behaviors and their interactions to understand differences in children's psychosocial functioning. Implication for Rehabilitation: Practitioners may wish to consider complexity in child health by examining a comprehensive set of determinants of psychosocial outcomes as well as comorbid conditions, such as neurodevelopmental disorders (NDDs) and externalizing
Full Text Available AGAP1 is an Arf1 GTPase activating protein that interacts with the vesicle-associated protein complexes adaptor protein 3 (AP-3 and Biogenesis of Lysosome Related Organelles Complex-1 (BLOC-1. Overexpression of AGAP1 in non-neuronal cells results in an accumulation of endosomal cargoes, which suggests a role in endosome-dependent traffic. In addition, AGAP1 is a candidate susceptibility gene for two neurodevelopmental disorders, autism spectrum disorder (ASD and schizophrenia (SZ; yet its localization and function in neurons have not been described. Here, we describe that AGAP1 localizes to axons, dendrites, dendritic spines, and synapses, colocalizing preferentially with markers of early and recycling endosomes. Functional studies reveal overexpression and down-regulation of AGAP1 affects both neuronal endosomal trafficking and dendritic spine morphology, supporting a role for AGAP1 in the recycling endosomal trafficking involved in their morphogenesis. Finally, we determined the sensitivity of AGAP1 expression to mutations in the DTNBP1 gene, which is associated with neurodevelopmental disorder, and found that AGAP1 mRNA and protein levels are selectively reduced in the null allele of the mouse orthologue of DTNBP1. We postulate that endosomal trafficking contributes to the pathogenesis of neurodevelopmental disorders affecting dendritic spine morphology, and thus excitatory synapse structure and function.
Full Text Available Empirical evidence indicates that sleep spindles facilitate neuroplasticity and “off-line” processing during sleep, which supports learning, memory consolidation, and intellectual performance. Children with neurodevelopmental disorders (NDDs exhibit characteristics that may increase both the risk for and vulnerability to abnormal spindle generation. Despite the high prevalence of sleep problems and cognitive deficits in children with NDD, only a few studies have examined the putative association between spindle characteristics and cognitive function. This paper reviews the literature regarding sleep spindle characteristics in children with NDD and their relation to cognition in light of what is known in typically developing children and based on the available evidence regarding children with NDD. We integrate available data, identify gaps in understanding, and recommend future research directions. Collectively, studies are limited by small sample sizes, heterogeneous populations with multiple comorbidities, and nonstandardized methods for collecting and analyzing findings. These limitations notwithstanding, the evidence suggests that future studies should examine associations between sleep spindle characteristics and cognitive function in children with and without NDD, and preliminary findings raise the intriguing question of whether enhancement or manipulation of sleep spindles could improve sleep-dependent memory and other aspects of cognitive function in this population.
William B. Grant
Full Text Available People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OHD concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD reviewed the evidence of 25(OHD concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OHD concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OHD concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OHD concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies.
Hori, Ikumi; Otomo, Takanobu; Nakashima, Mitsuko; Miya, Fuyuki; Negishi, Yutaka; Shiraishi, Hideaki; Nonoda, Yutaka; Magara, Shinichi; Tohyama, Jun; Okamoto, Nobuhiko; Kumagai, Takeshi; Shimoda, Konomi; Yukitake, Yoshiya; Kajikawa, Daigo; Morio, Tomohiro; Hattori, Ayako; Nakagawa, Motoo; Ando, Naoki; Nishino, Ichizo; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Saitsu, Hirotomo; Kanemura, Yonehiro; Yamasaki, Mami; Kosaki, Kenjiro; Matsumoto, Naomichi; Yoshimori, Tamotsu; Saitoh, Shinji
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS. Genetic dissection of these nine patients from seven families identified 14 causative mutations in EPG5. These included five nonsense, two frameshift, three splicing, one missense, and one multi-exon deletion mutations, and two initiation codon variants. Furthermore, cultured skin fibroblasts (SFs) from two affected patients demonstrated partial autophagic dysfunction. To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion. Unexpectedly, endocytic degradation was normal in both VICIS SFs and EPG5 depleted cells, suggesting that EPG5 function is limited to the regulation of autophagosome-lysosome fusion.
Grant, William B; Wimalawansa, Sunil J; Holick, Michael F; Cannell, John J; Pludowski, Pawel; Lappe, Joan M; Pittaway, Mary; May, Philip
People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OH)D) concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD) reviewed the evidence of 25(OH)D concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OH)D concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OH)D concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OH)D concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies.
Grant, William B.; Wimalawansa, Sunil J.; Holick, Michael F.; Cannell, John J.; Pludowski, Pawel; Lappe, Joan M.; Pittaway, Mary; May, Philip
People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OH)D) concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD) reviewed the evidence of 25(OH)D concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OH)D concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OH)D concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OH)D concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies. PMID:25734565
Obiols-Guardia, Aida; Guil, Sònia
Current technologies have demonstrated that only a small fraction of our genes encode for protein products. The vast majority of the human transcriptome corresponds to noncoding RNA (ncRNA) of different size, localization, and expression profile. Despite the fact that a biological function remains yet to be determined for most ncRNAs, growing evidence points to their crucial regulatory roles at all stages in gene expression regulation, including transcriptional and posttranscriptional control, so that proper cell homeostasis seems to depend largely on a variety of ncRNA-mediated regulatory networks. This is particularly relevant in the human brain, which displays the richest repertoire of ncRNA species, and where several different ncRNA molecules are known to be involved in crucial steps for brain development and maturation. Rett syndrome is a neurodevelopmental disorder characterized by loss of function mutations in the X-linked gene encoding for methyl-CpG-binding protein 2 (MeCP2). MECP2 deficiency impacts globally on gene expression programs, mainly through its role as a transcriptional repressor, and growing data also points to an important dysregulation of the noncoding transcriptome in the disease. Here, we review the current knowledge on ncRNA alterations in Rett and explore links with other pathologies that might indicate the potential use of particular noncoding transcripts as therapeutical targets, tools, or disease biomarkers.
Andrew T Olagunju
Full Text Available Background: Children with neurodevelopmental disorders (CNDs are a group requiring more attention as their care is often challenging, particularly for parents with primary caregiving roles in resource-restricted settings. This study had set out to investigate the burden and psychological distress among caregivers of children with neurodevelopmental delays. Materials and Methods: A total of 68 caregivers were recruited during the 2013 annual autism health program organized by the College of Medicine, University of Lagos in collaboration with Guaranty Trust Bank, Nigeria and Blazing Trails, USA. Of these caregivers, 60 respondents (caregivers and children were included in the final analyses due to poorly completed questionnaires. The Zarit Caregivers Burden Scale (ZCBS and General Health Questionnaire version 12 (GHQ-12 were administered to elicit caregivers' experience with respect to burden and psychological distress, respectively. Results: Of the 60 participants included in the final analyses, the majority constituted parents (96.3% with mothers accounting for 71.7%; 28 (46.7% participants were government workers and 3 (5% were full-time housewives. The mean age of CNDs was 6.8 (±3.2 years, and 33 (55.0% were males. Delivery by cesarian section was reported in 19 (31.8%. The common presenting complaints by caregivers were inability to walk (32.7%, repetitive behavior (25.5%, difficulty with verbal communication (10.9%, nonsocialization (9.1%, seizures (9.1%, and hyperactivity (3.6%. Problems were noticed at ≤ 1 year in 46.7% while they were noticed after 2 years in more than half the children, and a little above one-eighth (14% had siblings with similar problems. On the ZCBS, nine (15.0% caregivers reported a significant burden. In addition, 23 (38.3% caregivers had psychological distress. Caregivers' burden was significantly related to the report of psychological distress in caregivers (P < 0.001 and there was a trend toward the presence of
Erdodi, Laszlo; Lajiness-O'Neill, Renee; Schmitt, Thomas A.
Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly…
Hayashida, Kristen; Anderson, Bryan; Paparella, Tanya; Freeman, Stephanny F. N.; Forness, Steven R.
Although comorbid or co-occurring psychiatric diagnoses such as attention deficit hyperactivity disorder, anxiety disorders, depression, and oppositional defiant or conduct disorders have been well studied in children or adolescents with autism spectrum disorders (ASDs), very little research is available on preschool samples. The current study…
Sun, Jing; Buys, Nicholas
The purpose of this study is to examine the association of deficits of executive function (EF) and neurodevelopmental disorders in preterm children and the potential of assessing EF in infants as means of early identification. EF refers to a collection of related but somewhat discrete abilities, the main ones being working memory, inhibition, and planning. There is a general consensus that EF governs goal-directed behavior that requires holding those plans or programs on-line until executed, inhibiting irrelevant action and planning a sequence of actions. EF plays an essential role in cognitive development and is vital to individual social and intellectual success. Most researchers believe in the coordination and integrate cognitive-perceptual processes in relation to time and space, thus regulating higher-order cognitive processes, such as problem solving, reasoning, logical and flexible thinking, and decision-making. The importance of the maturation of the frontal lobe, particularly the prefrontal cortex, to the development of EF in childhood has been emphasized. Therefore, any abnormal development in the prefrontal lobes of infants and children could be expected to result in significant deficits in cognitive functioning. As this is a late-maturing part of the brain, various neurodevelopmental disorders, such as autism spectrum disorders, attention deficit hyperactivity disorder, language disorders, and schizophrenia, as well as acquired disorders of the right brain (and traumatic brain injury) impair EF, and the prefrontal cortex may be particularly susceptible to delayed development in these populations. The deficits of EF in infants are persistent into childhood and related to neurodevelopmental disorders in childhood and adolescence.
Diagnosing Autism Spectrum Disorder through Brain Functional Magnetic Resonance Imaging THESIS MARCH 2016 Kyle A. Palko, Second Lieutenant, USAF AFIT...declared a work of the U.S. Government and is not subject to copyright protection in the United States. AFIT-ENC-MS-16-M-123 DIAGNOSING AUTISM SPECTRUM...PUBLIC RELEASE; DISTRIBUTION UNLIMITED. AFIT-ENC-MS-16-M-123 DIAGNOSING AUTISM SPECTRUM DISORDER THROUGH BRAIN FUNCTIONAL MAGNETIC RESONANCE IMAGING Kyle
Spooren, Will; Lindemann, Lothar; Ghosh, Anirvan; Santarelli, Luca
Autism and autism spectrum disorders (ASDs) affect millions of individuals worldwide. Despite increased autism diagnoses over the past 30 years, therapeutic intervention is often 'trial and error'. This approach has identified some beneficial agents, but complex heterogeneous disorders require a more personalized treatment regimen. Many ASD risk factors are genetic, implicating impaired synaptic development and function. Monogenetic disorders (e.g., fragile X syndrome, Rett syndrome, and neurofibromatosis) that have phenotypic overlap with autism provide insights into ASD pathology through the identification novel drug targets (e.g., glutamatergic receptors). Encouragingly, some of these novel drug targets provide symptomatic improvement, even in patients who have lived with ASDs for protracted periods of time. Consequently, a targeted drug discovery approach is expected to deliver improved agents for the treatment and management of ASDs. Here, we review the opportunities and challenges in drug development for autism and provide insight into the neurobiology of ASDs. Copyright © 2012 Elsevier Ltd. All rights reserved.
Ravi Philip Rajkumar
Full Text Available Gender identity disorder (GID, recently renamed gender dysphoria (GD, is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF, early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.
Rajkumar, Ravi Philip
Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed. PMID:25548672
Rajkumar, Ravi Philip
Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.
Hannigan, J H; Berman, R F
Fetal alcohol syndrome (FAS) and alcohol-related neurodevelopmental disorders (ARNDs) in children are characterized by life-long compromises in learning, memory, and adaptive responses. Until the advent of effective prevention measures, it will remain necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal alcohol exposure. To date, there are no clinical remedies to recommend for either specific or global fetal alcohol effects. This article reviews our basic research in animal models that assesses the potential of global environmental manipulations or specific psychopharmacological treatments to ameliorate the neurobehavioral effects of prenatal exposure to alcohol. Postweaning environmental enrichment can improve behavioral performance and ameliorate or even eliminate deficits in prenatal alcohol-exposed rats, although there is persistent impairment in neuronal plasticity, as indicated by the failure of hippocampal pyramidal cells to increase dendrite spine density. Behavioral and neural responses to CNS stimulants differ in rats exposed prenatally to alcohol, although it is not clear that these shifts in dose-response curves would predict benefit to children. Although the present results may sound a note of optimism for the development of effective treatment strategies for children with FAS or ARNDs, it is important to consider that application of these findings in rodents may not be straightforward. We also need to know the critical features of specific environments that influence brain development, and the limits of pharmacotherapy, as well as critical periods of exposure. Continued study of the beneficial, ameliorative effects of environmental enrichment, rehabilitative training, and of pharmacological therapies in animal models, will remain a valuable source of information for eventually devising treatments specific for children with FAS and ARNDs.
Khandaker, Golam M.; Stochl, Jan; Zammit, Stanley; Lewis, Glyn; Jones, Peter B
Background Schizophrenia has a neurodevelopmental component to its origin, and may share overlapping pathogenic mechanisms with childhood neurodevelopmental disorders (ND). Yet longitudinal studies of psychotic outcomes among individuals with ND are limited. We report a population-based prospective study of six common childhood ND, subsequent neurocognitive performance and the risk of psychotic experiences (PEs) in early adolescence. Methods PEs were assessed by semi-structured interviews at age 13 years. IQ and working memory were measured between ages 9 and 11 years. The presence of six neurodevelopmental disorders (autism spectrum, dyslexia, dyspraxia, dysgraphia, dysorthographia, dyscalculia) was determined from parent-completed questionnaire at age 9 years. Linear regression calculated mean difference in cognitive scores between those with and without ND. The association between ND and PEs was expressed as odds ratio (OR); effects of cognitive deficits were examined. Potential confounders included age, gender, father’s social class, ethnicity and maternal education. Results Out of 8,220 children, 487 (5.9%) were reported to have ND at age 9 years. Children with, compared with those without ND performed worse on all cognitive measures; adjusted mean difference in total IQ 6.84 (95% CI 5.00- 8.69). The association between total IQ and ND was linear (p<0.0001). The risk of PEs was higher in those with, compared with those without ND; adjusted OR for definite PEs 1.76 (95% CI 1.11- 2.79). IQ (but not working memory) deficit partly explained this association. Conclusion Higher risk of PEs in early adolescence among individuals with childhood ND is consistent with the neurodevelopmental hypothesis of schizophrenia. PMID:25066026
Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925
Khandaker, G M; Stochl, J; Zammit, S; Lewis, G; Jones, P B
Schizophrenia has a neurodevelopmental component to its origin, and may share overlapping pathogenic mechanisms with childhood neurodevelopmental disorders (NDs). Nevertheless, longitudinal studies of psychotic outcomes among individuals with NDs are limited. We report a population-based prospective study of six common childhood NDs, subsequent neurocognitive performance and the risk of psychotic experiences (PEs) in early adolescence. PEs were assessed by semi-structured interviews at age 13 years. IQ and working memory were measured between ages 9 and 11 years. The presence of six NDs (autism spectrum, dyslexia, dyspraxia, dysgraphia, dysorthographia, dyscalculia) was determined from parent-completed questionnaires at age 9 years. Linear regression calculated the mean difference in cognitive scores between children with and without NDs. Associations between NDs and PEs were expressed as odds ratios (ORs) with 95% confidence intervals (CIs); effects of cognitive deficits were examined. Potential confounders included age, gender, father's social class, ethnicity and maternal education. Out of 8220 children, 487 (5.9%) were reported to have NDs at age 9 years. Children with, compared with those without, NDs performed worse on all cognitive measures; the adjusted mean difference in total IQ was 6.84 (95% CI 5.00-8.69). The association between total IQ and NDs was linear (p memory) deficit partly explained this association. Higher risk of PEs in early adolescence among individuals with childhood ND is consistent with the neurodevelopmental hypothesis of schizophrenia.
Bastida Bermejo, José María; Hernández-Rivas, Jesús María; González-Porras, José Ramón
Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.
Full Text Available Contemporary aetiopathogenetic considerations, based on neuro-imaging genetic and developmental neurobiology studies, suggest neurodevelopmental origin of schizophrenia. Several lines of evidence including structural abnormalities on in vivo brain imaging, the excess of prenatal and obstetric complications and the association of congenital and minor physical anomalies with schizophrenia, strongly indicate the neurodevelopmental pathogenesis of schizophrenia. On the other hand, controversial concept of psychotic continuum suggests schizophrenia and depression sharing the same genetic contribution to the pathogenesis. If this would be the case, depression could also be considered as neuro developmental disorder. The aims of the study were to investigate the association between: a pregnancy and birth complications (PBC, and b minor physical anomalies (MPA and schizophrenia or depression. Experimental groups consisted of 60 schizophrenic, 28 major depression patients and 30 healthy controls. All patients were diagnosed according to DSM-IV. Schizophrenic group was divided with regard to PANSS score into positive (n=32 and negative form (n=28 subgroups. PBC information were gathered from maternal recall while MPA were examined by using Waldrop scale for adults. The results showed that negative and positive schizophrenic subgroups had significantly more PBC than depressive group (p<0,05, as well than controls (p<0,001; p<0,05; respectively. There was no significant trend for more PBC in negative than in positive subgroup. All schizophrenic patients had higher rates of MPA than depressives (p<0,05. This trend for more MPA was not significant in comparison with healthy controls. These findings suggest that schizophrenia, especially its negative forms, could be considered as a member of the spectrum of neuro developmental disorders, which does not seem to be the case with depression. PBC and MPA could also be valuable in evaluation of risks for
Farmer, Cristan; Golden, Christine; Thurm, Audrey
Estimates of intelligence in young children with neurodevelopmental disorders are critical for making diagnoses, in characterizing symptoms of disorders, and in predicting future outcomes. The limitations of standardized testing for children with developmental delay or cognitive impairment are well known: Tests do not exist that provide developmentally appropriate material along with norms that extend to the lower reaches of ability. Two commonly used and interchanged instruments are the Mullen Scales of Early Learning (MSEL), a test of developmental level, and the Differential Ability Scales, second edition (DAS-II), a more traditional cognitive test. We evaluated the correspondence of contemporaneous MSEL and the DAS-II scores in a mixed sample of children aged 2-10 years with autism spectrum disorder (ASD), non-ASD developmental delays, and typically developing children across the full spectrum of cognitive ability. Consistent with published data on the original DAS and the MSEL, scores on the DAS-II and MSEL were highly correlated. However, curve estimation revealed large mean differences that varied as a function of the child's cognitive ability level. We conclude that interchanging MSEL and DAS-II scores without regard to the discrepancy in scores may produce misleading results in both cross-sectional and longitudinal studies of children with and without ASD, and, thus, this practice should be implemented with caution.
Goriely, Anne; McGrath, John J.; Hultman, Christina M.; Wilkie, Andrew O.M.; Malaspina, Dolores
Objectives There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders such as schizophrenia and autism. Here we present a novel mechanism that may contribute to this association. Methods Narrative review. Results Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy-errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation via dysregulation of the RAS pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare paternal age-effect disorders (e.g. Apert syndrome, achondroplasia), this process is known as ‘selfish spermatogonial selection’. This mechanism will (a) favor propagation of germ cells carrying pathogenic mutations, (b) increasingly skew the mutational profile of sperm as men age, and (c) result in an enrichment of de novo mutations in the offspring of older fathers that preferentially impact on specific cellular signaling pathways. This mechanism offers a parsimonious explanation not only for the association between advanced paternal age and various neurodevelopmental disorders, but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle) and some epidemiological features of these disorders. We outline hypotheses to test this model. Conclusions In light of our current understanding of the genetic networks involved in neurocognitive disorders and the principles of selfish spermatogonial selection, we speculate that some pathogenic mutations associated with these disorders are the consequence of a selfish mechanism originating in the aging testis. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public
Full Text Available Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131 and MAF (OMIM 177075 (1 case, an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome, and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case. The two other cases represented progressing dystonia. Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants of GALC gene and the absence of mutations in PSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper.
Dan, Bernard; Pelc, Karine; de Meirleir, Linda; Cheron, Guy
Careful study of the phenotype can have implications at several levels, namely clinical diagnosis, pathophysiological reasoning, management planning, and outcome measurement. Behavioural phenotypes involve cognition, communication, social skills, and motor control. They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception-action-cognition-environment (PACE) paradigm, which focuses on the neurodevelopmental processes that underlie learning and adaption to the environment through perception, action, and cognitive processing. Although this paradigm was originally developed in the context of cerebral palsy, it can be applied along developmental trajectories in several neurogenetic conditions, including Down syndrome, fragile X syndrome, Rett syndrome, Angelman syndrome, and Williams syndrome, to name but a few. It must be recognized, however, that relevant, valid tools for assessment and management strategies still need to be developed. © 2015 The Authors. Developmental Medicine & Child Neurology © 2015 Mac Keith Press.
Full Text Available Over the past 30 years, preterm births have drastically increased and today represent 12.5% of total births. About 1.2% of preterm births characterize very preterm births (GA<32weeks that, with very low birth weight (BW<1500grams, are constantly found as risk factors of unfavourable neurological outcomes in longitudinal follow up studies. Actually, also “late preterm” children (preterm born from 33 to 36 weeks of gestational age, normally considered at low risk for neurodevelopmental disabilities, are supposed to represent a population of children to be monitored. Previous findings of a general cognitive impairment in children born preterm have gradually addressed the assessment of more specific neuropsychological skills and pointed out the importance to follow these children up to adolescent age. The neuroanatomical prerequisite of an abnormality in frontal lobe development and the correlation with various neuropsychological dysfunctions (fine and gross motor disabilities, executive function and working memory deficits, visual-constructional and attentional dysfunctions underline the interference of preterm birth with normal brain maturational phases. Though showing more demanding neurodevelopmental pathways than term peers, a large number of preterm children tend to functionally normalize in adolescence. The review supports the hypothesis of a neurodevelopmental model that can be at risk to influence dysfunctional neuropsychological outcome.
Andersen, Stine Linding; Carlé, Allan; Karmisholt, Jesper; Pedersen, Inge Bülow; Andersen, Stig
Fetal programming is a long-standing, but still evolving, concept that links exposures during pregnancy to the later development of disease in the offspring. A fetal programming effect has been considered within different endocrine axes and in relation to different maternal endocrine diseases. In this critical review, we describe and discuss the hypothesis of fetal programming by maternal thyroid dysfunction in the context of fetal brain development and neurodevelopmental disorders in the offspring. Thyroid hormones are important regulators of early brain development, and evidence from experimental and observational human studies have demonstrated structural and functional abnormalities in the brain caused by the lack or excess of thyroid hormone during fetal brain development. The hypothesis that such abnormalities introduced during early fetal brain development increase susceptibility for the later onset of neurodevelopmental disorders in the offspring is biologically plausible. However, epidemiological studies on the association between maternal thyroid dysfunction and long-term child outcomes are observational in design, and are challenged by important methodological aspects. © 2017 European Society of Endocrinology.
Reeves, Matthew Jonathan; Bailey, Richard P.
Attention deficit hyperactivity disorder (ADHD) is the most common neurodevelopmental psychiatric disorder among children. Despite the noted positive aspects of the disorder, it is often associated with a range of negative outcomes for that are detrimental to children's education and wider well-being. This comprehensive scoping review examined…
Atmaca, Murad; Ozler, Sinan; Topuz, Mehtap; Goldstein, Sam
Objective: There is a dearth of literature on patients erroneously diagnosed and treated for bipolar disorder. Method: The authors report a case of an adult with attention deficit hyperactivity disorder erroneously diagnosed and treated for bipolar disorder for 6 years. At that point, methylphenidate was initiated. The patient was judged to be a…
Rasmussen, Malene B; Nielsen, Jakob V; Lourenço, Charles M; Melo, Joana B; Halgren, Christina; Geraldi, Camila V L; Marques, Wilson; Rodrigues, Guilherme R; Thomassen, Mads; Bak, Mads; Hansen, Claus; Ferreira, Susana I; Venâncio, Margarida; Henriksen, Karen F; Lind-Thomsen, Allan; Carreira, Isabel M; Jensen, Niels A; Tommerup, Niels
Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome. We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3;18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25). Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
This study investigated the specific emotional lexicons in narratives created by persons diagnosed with antisocial personality disorder (ASPD) to test the hypothesis that individuals with ASPD exhibit deficiencies in emotional language. Study participants consisted of 60 prison inmates with ASPD, 40 prison inmates without ASPD, and 60 men without…
Introduction: Sleep disorders are commonly under-diagnosed in the geriatric population. We aimed to determine the prevalence of sleep problems among older adults admitted to the geriatrics out-patient clinic. Methods: Two hundred and three patients (136 female) older than 75 years of age were included in the study.
Full Text Available The brain is a plastic organ where both the intrinsic CNS milieu and extrinsic cues play important roles in shaping and wiring neural connections. The perinatal period constitutes a critical time in central nervous system development with extensive refinement of neural connections, which are highly sensitive to fetal and neonatal compromise, such as inflammatory challenges. Emerging evidence suggests that inflammatory cells in the brain such as microglia and astrocytes are pivotal in regulating synaptic structure and function. In this article, we will review the role of glia cells in synaptic physiology and pathophysiology, including microglia-mediated elimination of synapses. We propose that activation of the immune system dynamically affects synaptic organization and function in the developing brain. We will discuss the role of neuroinflammation in altered synaptic plasticity following perinatal inflammatory challenges and potential implications for neurodevelopmental and neurodegenerative disorders.
Schmeisser, Kathrin; Fardghassemi, Yasmin; Parker, J Alex
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context. In this study, we present a screening approach of potential C. elegans mutants as potential ASD models. We screened these mutants for motor-deficiency phenotypes, which can be exploited to study underlying mechanisms of the disorder. Selected motor-deficient mutants were then used in a comprehensive drug screen of over 3900 compounds, including many FDA-approved and natural molecules, that were analyzed for their ability to suppress motility defects caused by ASD-associated gene orthologues. This genetic-chemical approach, i.e. establishing C. elegans models for ASD and screening of a well-characterized compound library, might be a promising first step to understand the mechanisms of how gene variations cause neuronal dysfunction, leading to ASD and other neurological disorders. Positively acting compounds could also be promising candidates for preclinical studies. Copyright © 2017 Elsevier Inc. All rights reserved.
Arim, Rubab G; Miller, Anton R; Guèvremont, Anne; Lach, Lucyna M; Brehaut, Jamie C; Kohen, Dafna E
The aim of this study was to identify children with neurodevelopmental disorders and disabilities (NDD/D) and compare their healthcare service utilization to children without NDD/D using provincial linked administrative data. The sample included children aged 6 to 10 years (n=183 041), who were registered with the British Columbia Medical Services Plan. Diagnostic information was used for the identification and classification of NDD/D in six functional domains. Healthcare service utilization included outcomes based on physician claims, prescription medication use, and hospitalization. Overall, 8.3% of children were identified with NDD/D. Children with NDD/D had higher healthcare service utilization rates than those without NDD/D. Effect sizes were: very large for the number of days a prescription medication was dispensed; large for the number of prescriptions; medium for the number of physician visits, different specialists visited, number of different prescription medications, and ever hospitalized; and small for the number of laboratory visits, X-ray visits, and number of days hospitalized. The findings have policy implications for service and resource planning. Given the high use of psychostimulants, specialized services for both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. Future studies may examine patterns of physician behaviours and costs attributable to healthcare service utilization for children with NDD/D. Children with neurodevelopmental disorders and disabilities (NDD/D) have higher healthcare service utilization than those without. Based on provincial population-based linked administrative health data, a sizeable number of children are living with NDD/D. Given the high use of psychostimulants, specialized services for children with both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. © 2017 Mac Keith Press.
Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.
Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…
Bell, Emily; Wallace, Tessa; Chouinard, Isabelle; Shevell, Michael; Racine, Eric
Faced with the limitations of currently available mainstream medical treatments and interventions, parents of children with neurodevelopmental disorders often seek information about unproven interventions. These interventions frequently have undetermined efficacy and uncertain safety profiles. In this article, we present a general background and…
Full Text Available Objective. Eating disorders commonly present with nonspecific findings, masquerading as other, more common etiologies of malnutrition and wasting. In low-prevalence populations, these ambiguities can complicate clinicians’ diagnostic reasoning, resulting in delayed or missed diagnoses. Method. We report the atypical case of a 51-year-old male with a five-year history of unexplained weight loss despite extensive past medical evaluation. Previous documentation of profound lymphopenia and bone marrow atrophy had not been linked to a known association with eating disorders. Results. Evaluation for medical etiologies of wasting was negative. Following psychiatric evaluation, the patient was diagnosed with an eating disorder, not otherwise specified, and admitted to a specialized nutritional rehabilitation program. Conclusion. The nonspecific clinical history, physical exam, and laboratory abnormalities of eating disorders can make these diagnoses challenging and delay appropriate treatment. Clinicians should consider eating disorders in patients with malnutrition, severe lymphopenias, and gelatinous marrow transformation early in their workup, so as to avoid potentially negative outcomes.
Yu, Junhan; Ross, Colin A; Keyes, Benjamin B; Li, Ying; Dai, Yunfei; Zhang, Tianhong; Wang, Lanlan; Fan, Qing; Xiao, Zeping
The purpose of this study was to assess the prevalence of dissociative disorders in a sample of Chinese psychiatric inpatients. Participants in the study were 569 consecutively admitted inpatients at Shanghai Mental Health Center, China, of whom 84.9% had a clinical diagnosis of schizophrenia based on the Chinese Classification and Diagnostic Criteria of Mental Disorders, Version 3. All participants completed a self-report measure of dissociation (the Dissociative Experiences Scale), and none had a prior diagnosis of a dissociative disorder. A total of 96 randomly selected participants were interviewed with a structured interview (the Dissociative Disorders Interview Schedule) and a clinical interview. These 96 patients did not differ significantly from the 473 patients who were not interviewed on any demographic measures or who did not complete the self-report dissociation measure. A total of 28 patients (15.3%, after weighting of the data) received a clinical diagnosis of a dissociative disorder based on Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) criteria. Dissociative identity disorder was diagnosed in 2 patients (0.53%, after weighting). Compared to the patients without a dissociative disorder, patients with dissociative disorders were significantly more likely to report childhood abuse (57.1% vs. 22.1%), but the 2 groups did not differ significantly on any demographic measures. Dissociative disorders were readily identified in an inpatient psychiatric population in China.
Yu, Junhan; Ross, Colin A.; Keyes, Benjamin B.; Li, Ying; Dai, Yunfei; Zhang, Tianhong; Wang, Lanlan; Fan, Qing; Xiao, Zeping
The purpose of the study was to assess the prevalence of dissociative disorders in a sample of Chinese psychiatric inpatients. Participants in the study consisted of 569 consecutively admitted inpatients at Shanghai Mental Health Center, China, of whom 84.9% had a clinical diagnosis of schizophrenia based on the Chinese Classification and Diagnostic Criteria for Mental Disorders, Version 3 (CCMD-3). All participants completed a self-report measure of dissociation, the Dissociative Experiences Scale (DES) and none had a prior diagnosis of a dissociative disorder. Ninety-six randomly selected participants were interviewed with a structured interview, the Dissociative Disorders Interview Schedule (DDIS) and a clinical interview. These 96 patients did not differ significantly from the 473 patients who were not interviewed on any demographic measures or on the self-report measure dissociation. A total of 28 (15.3%, after weighting of the data) patients received a clinical diagnosis of a dissociative disorder based on DSM-IV-TR criteria. Dissociative identity disorder was diagnosed in 2 (0.53%, after weighting) patients. Compared to the patients without a dissociative disorder, patients with dissociative disorders were significantly more likely to report childhood abuse (57.1% versus 22.1%), but the two groups did not differ significantly on any demographic measures. Dissociative disorders were readily identified in an inpatient psychiatric population in China. PMID:20603768
Hempel, A.; Pagnamenta, A.T.; Blyth, M; Mansour, S; McConnell, V; Kou, I; Ikegawa, S.; Tsurusaki, Y.; Matsumoto, N.; Lo-Castro, A.; Plessis, G; Albrecht, B; Battaglia, A.; Taylor, J C; Howard, M. F.
Background \\ud \\ud SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin–Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders.\\ud \\ud Methods \\ud \\ud We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who hav...
Sollis, Elliot; Graham, Sarah A; Vino, Arianna; Froehlich, Henning; Vreeburg, Maaike; Dimitropoulou, Danai; Gilissen, Christian; Pfundt, Rolph; Rappold, Gudrun A; Brunner, Han G; Deriziotis, Pelagia; Fisher, Simon E
De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global developmental delay, autistic features, speech/language deficits, hypotonia and mild dysmorphic features are core features of the disorder. We expand the phenotypic spectrum to include sensory integration disorder and hypertelorism. Notably, the etiological variants in these cases include two missense variants within the DNA-binding domain of FOXP1. Only one such variant has been reported previously. The third patient carries a stop-gain variant. We performed functional characterization of the three missense variants alongside our stop-gain and two previously described truncating/frameshift variants. All variants severely disrupted multiple aspects of protein function. Strikingly, the missense variants had similarly severe effects on protein function as the truncating/frameshift variants. Our findings indicate that a loss of transcriptional repression activity of FOXP1 underlies the neurodevelopmental phenotype in FOXP1-related disorder. Interestingly, the three novel variants retained the ability to interact with wild-type FOXP1, suggesting these variants could exert a dominant-negative effect by interfering with the normal FOXP1 protein. These variants also retained the ability to interact with FOXP2, a paralogous transcription factor disrupted in rare cases of speech and language disorder. Thus, speech/language deficits in these individuals might be worsened through deleterious effects on FOXP2 function. Our findings highlight that de novo FOXP1 variants are a cause of sporadic ID and emphasize the importance of this transcription factor in neurodevelopment. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email
Boden, M Tyler; Moos, Rudolf
Few studies have investigated whether dually diagnosed patients with co-occurring substance use and psychiatric disorders (DD) respond as well to substance use disorder (SUD) treatments as patients with SUD do. Here we assessed whether male veteran DD and SUD patients with alcohol dependence diagnoses differed in the process and outcomes of residential SUD treatment. The main findings showed that (a) DD patients did not perceive SUD programs as positively as patients with SUD did and had worse proximal outcomes at discharge from treatment; (b) DD patients did as well as SUD patients on 1- and 5-year substance use outcomes but had worse psychiatric outcomes; and (c) patients who perceived treatment more positively and had better outcomes at discharge had better longer term outcomes. Thus, residential SUD programs are relatively effective in reducing DD patients' substance use problems; however, they are less successful in engaging DD patients in treatment and addressing their psychiatric problems.
Naftale Alves dos Santos
Full Text Available Objective. Identify the profile of nursing diagnoses in patients with respiratory disorders. Methodology. A descriptive and cross-sectional study involving 38 patients with respiratory problems, of referral hospitals, in a city in northeastern Brazil, in the period from August to October, 2012. Data collection was performed using a form and diagnostic inference was made according with the Taxonomy II of NANDA I. Results. The average age of the patients was 46 years and males predominated (60.5%. The most frequent nursing diagnoses were: Risk for infection (97.3%, Acute pain (68.4%, Poor knowledge (68.4%, Sedentary lifestyle (65.7%, Ineffective airway clearance (65.7%, Risk-prone health behavior (63.1%, Activity intolerance (52.6% and Disturbed sleep pattern (33.3%. Evaluated patients exhibited an average of 8.6 nursing diagnoses (SD = 2.8. With respect to the defining characteristics and related factors the average per person was 7.2 and 9.3, respectively. Conclusion. In this group of patients the most frequent diagnoses were the domain activity/rest. Knowledge of nursing diagnoses profile presented by people with respiratory disorders is important, because it is part of the Nursing Process and nurses who take care of such patients should exercise them in their care practice. Knowledge of the mains nursing diagnosis presented by patients with respiratory disorders are important for the practice of nurses who care for these patients, because it allows the choice of responses to problems of their clientele.
Vo, Megen; Accurso, Erin C; Goldschmidt, Andrea B; Le Grange, Daniel
Eating disorder diagnostic criteria were revised from the fourth to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV and -5, respectively). This study examines the impact of these revisions on rates of eating disorder diagnoses in treatment-seeking youth. Participants were 651 youth, ages 7-18 years, presenting to an outpatient eating disorders program who met criteria for a DSM-IV eating disorder diagnosis on intake. Patients completed well-validated semi-structured interviews to assess eating disorder psychopathology and psychiatric comorbidity. Participants were predominantly female (n = 588; 90.3%) with an average age of 15.28 years (SD = 2.21), mean percent of median Body Mass Index (mBMI) of 101.91 (SD = 31.73), and average duration of illness of 16.74 months (SD = 17.63). Cases of DSM-IV Eating Disorder Not Otherwise Specified (EDNOS), now most consistent with DSM-5 Other Specified Feeding or Eating Disorder, decreased from 47.6% to 39.0%, Anorexia Nervosa increased from 29.6% to 33.5%, and Bulimia Nervosa increased from 22.7% to 24.7%. Consistent with previous studies, and in keeping with the aims of the DSM-5 for eating disorders, the revised diagnostic criteria reduced cases of DSM-IV EDNOS and increased cases of specified eating disorders. © 2016 Wiley Periodicals, Inc.(Int J Eat Disord 2017; 50:578-581). © 2016 Wiley Periodicals, Inc.
Hawke, Lisa D; Provencher, Martin D
Bipolar disorder is associated with a variety of cognitive features that seem to play a role in affective symptoms. Schema theory may serve as a unifying theory that would explain many of these features. This study is an exploratory investigation of schema theory's Early Maladaptive Schemas (EMSs) among individuals diagnosed with bipolar disorder. A sample of 74 participants with bipolar disorder and 99 mixed clinical controls (46 with unipolar depression and 53 with anxiety disorders) completed the Young Schema Questionnaire and comparison measures. Associations were investigated using univariate and multivariate analyses. Mean scores were compared with previously established benchmarks. Participants with bipolar disorder demonstrate elevated scores on most EMSs, many at an intermediate position between nonclinical and mixed clinical control groups. When controlling for depression, participants with bipolar disorder exceed those with unipolar depression on Approval-Seeking/Recognition-Seeking and Entitlement/Grandiosity. Bipolar group membership is predicted by high scores on Approval-Seeking/Recognition-Seeking and low scores on Emotional Inhibition and Abandonment. Women were overrepresented. Axis II traits were not assessed, nor were manic symptoms in the mixed clinical sample. Bipolar disorder is associated with a general activation of the EMSs. Approval-Seeking/Recognition-Seeking and Entitlement/Grandiosity seem to be particularly high, while Emotional Inhibition and Abandonment seem to be typically low. These EMS are highly consistent with characteristics of the bipolar spectrum. By demonstrating the activation of the EMSs, this study suggests that the EMS component of schema theory may be applied to bipolar disorder. Future research should explore how EMSs might interact with life events to trigger affective symptoms and, ultimately, the applicability of schema therapy to bipolar disorder. Copyright © 2011 Elsevier B.V. All rights reserved.
James, William H
It has been suggested that reading disability (RD), autism spectrum disorder (ASD), and attention-deficit-hyperactivity disorder (ADHD) share a measure of genetic overlap. They also share some epidemiological features, and have all been suspected of multifactorial (genetic and environmental) threshold origins. It has also been hypothesized that ASD, pervasive developmental disorder - not otherwise specified, and ADHD are partially caused by high maternal intrauterine testosterone levels. Here I offer a new method of testing this latter hypothesis on some of these disorders (RD, ADHD, and ASD). All these disorders occur more commonly in males. If the intrauterine testosterone hypothesis was correct, then probands should have a statistically significant excess of brothers among their siblings. Data are adduced here to test this. When treated as individual disorders, the data are significant only in the case of RD. However, the data are highly significant when pooled as RD + ADHD or RD + ADHD + ASD. Taken alone, the data on ASD are not significant. These results suggest that: (1) taxonomically, RD and ADHD are moresimilar to one another than either is to ASD; and (2) probands in the pooled samples have a very highly significant excess of brothers. This result stands in need of explanation. Provisionally, the data may be interpreted as suggesting that RD may be caused by high intrauterine testosterone levels, and confirming the hypothesis that ADHD is partially caused by high intrauterine testosterone.
Schultz Jennifer F
Full Text Available Abstract Background Previous research has documented that the symptoms of bipolar disorder are often mistaken for unipolar depression prior to a patient's first bipolar diagnosis. The assumption has been that once a patient receives a bipolar diagnosis they will no longer be given a misdiagnosis of depression. The objectives of this study were 1 to assess the rate of subsequent unipolar depression diagnosis in individuals with a history of bipolar disorder and 2 to assess the increased cost associated with this potential misdiagnosis. Methods This study utilized a retrospective cohort design using administrative claims data from 2002 and 2003. Patient inclusion criteria for the study were 1 at least 2 bipolar diagnoses in 2002, 2 continuous enrollment during 2002 and 2003, 3 a pharmacy benefit, and 4 age 18 to 64. Patients with at least 2 unipolar depression diagnoses in 2003 were categorized as having an incongruent diagnosis of unipolar depression. We used propensity scoring to control for selection bias. Utilization was evaluated using negative binomial models. We evaluated cost differences between patient cohorts using generalized linear models. Results Of the 7981 patients who met all inclusion criteria for the analysis, 17.5% (1400 had an incongruent depression diagnosis (IDD. After controlling for background differences, individuals who received an IDD had higher rates of inpatient and outpatient psychiatric utilization and cost, on average, an additional $1641 per year compared to individuals without an IDD. Conclusions A strikingly high proportion of bipolar patients are given the differential diagnosis of unipolar depression after being identified as having bipolar disorder. Individuals with an IDD had increased acute psychiatric care services, suggesting higher levels of relapses, and were at risk for inappropriate treatment, as antidepressant therapy without a concomitant mood-stabilizing medication is contraindicated in bipolar
Carballal Mariño, Marta; Gago Ageitos, Ana; Ares Alvarez, Josefa; Del Rio Garma, Mercedes; García Cendón, Clara; Goicoechea Castaño, Ana; Pena Nieto, Josefina
To determine the prevalence of psychiatric disorders in primary care pediatrics in Atlantic Galicia. An observational, descriptive, cross-sectional prevalence study was carried out in 9 outpatient clinics in A Coruña and Pontevedra with a population of 8293 children between September and November 2015. A total of 1286 randomly selected patients from 0 to 14 years of age were included. From the medical history was registered: age, sex, psychiatric diagnosis established by DSM-IV-TR criteria in its five axes, professionals who participated in the diagnosis and treatment of the process and what type of treatment was received. Authorization was obtained from the Research Ethics Committee of Galicia number 2015/427. 148 of 1286 patients presented psychiatric pathology (11,5% IC 95% 9.73-13,29), 68% male. Between 0 and 5years, the prevalence was 4.5%; between 6y and 10y, 18.5% and between 11y and 14y 22%. Symptoms lasted a median of 25 months. The most frequent pathologies in 1286 patients were ADHD (5.36%), language disorders (3.42%), learning disorders (3.26%), anxiety-depressive disorders (2.4%) and behavior disorders (1.87%). Of the 148 cases, 47% had comorbidity with another mental disorder. Most of them required attention by multiple social, health and educational professionals; 33% received psychopharmacological treatment. The prevalence of psychiatric disorders in pediatric primary care is frequent, chronic and complex, increases with age and requires many health, educational and social resources. Copyright © 2017. Publicado por Elsevier España, S.L.U.
Perra, Oliver; Williams, Justin H. G.; Whiten, Andrew; Fraser, Lesley; Benzie, Helen; Perrett, David I.
Several studies have reported imitative deficits in autism spectrum disorder (ASD). However, it is still debated if imitative deficits are specific to ASD or shared with clinical groups with similar mental impairment and motor difficulties. We investigated whether imitative tasks can be used to discriminate ASD children from typically developing…
Iqbal, Z.; Vandeweyer, G.; Voet, M. van der; Waryah, A.M.; Zahoor, M.Y.; Besseling, J.A.; Roca, L.T.; Silfhout, A.T. van; Nijhof, B.; Kramer, J.M.; Aa, N. van der; Ansar, M.; Peeters, H.; Helsmoortel, C.; Gilissen, C.F.H.A.; Vissers, L.E.L.M.; Veltman, J.A.; Brouwer, A.P.M. de; Kooy, R. van; Riazuddin, S.; Schenck, A.; Bokhoven, H. van; Rooms, L.
AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia by association studies. Most recently, de novo missense mutations in this gene were identified in autistic patients. However, the causative
Gillet, Virginie; Hunting, Darel John; Takser, Larissa
The prevention of neurodevelopmental disorders (NDD) of prenatal origin suffers from the lack of objective tools for early detection of susceptible individuals and the long time lag, usually in years, between the neurotoxic exposure and the diagnosis of mental dysfunction. Human data on the effects of alcohol, lead, and mercury and experimental data from animals on developmental neurotoxins and their long-term behavioral effects have achieved a critical mass, leading to the concept of the Developmental Origin of Health and Disease (DOHaD). However, there is currently no way to evaluate the degree of brain damage early after birth. We propose that extracellular vesicles (EVs) and particularly exosomes, released by brain cells into the fetal blood, may offer us a non-invasive means of assessing brain damage by neurotoxins. We are inspired by the strategy applied by Alan Turing (a cryptanalyst working for the British government), who created a first computer to decrypt German intelligence communications during World War II. Given the growing evidence that microRNAs (miRNAs), which are among the molecules carried by EVs, are involved in cell-cell communication, we propose that decrypting messages from EVs can allow us to detect damage thus offering an opportunity to cure, reverse, or prevent the development of NDD. This review summarizes recent findings on miRNAs associated with selected environmental toxicants known to be involved in the pathophysiology of NDD.
Bakare, Muideen O; Munir, Kerim M; Bello-Mojeed, Mashudat A
Sub-Saharan African (SSA) population consists of about 45% children, while in Europe and North America children population is 10-15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD). The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.
Muideen O. Bakare
Full Text Available Sub-Saharan African (SSA population consists of about 45% children, while in Europe and North America children population is 10- 15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD. The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.
Johnels, Jakob Åsberg; Hagberg, Bibbi; Gillberg, Christopher; Miniscalco, Carmela
Oral narrative retelling is often problematic for children with communicative and neurodevelopmental disorders. However, beyond a suggested role of language level, little is known about the basis of narrative performance. In this study we examine whether oral narrative retelling might be associated not just with language level but also with skills related to nonverbal narrative temporal sequencing. A diagnostically heterogeneous sample of Swedish-speaking children with a full scale IQ >70 was included in the study (N = 55; age 6-9 years). Narrative retelling skills were measured using the three subscores from the bus story test (BST). Independent predictors included (1) temporal sequencing skills according to a picture arrangement test and (2) a language skills factor consisting of definitional vocabulary and receptive grammar. Regression analyses show that language skills predicted BST Sentence Length and Subordinate Clauses subscores, while both temporal sequencing and language were independently linked with the BST Information subscore. When subdividing the sample based on nonverbal temporal sequencing level, a significant subgroup difference was found only for BST Information. Finally, a principal component analysis shows that temporal sequencing and BST Information loaded on a common factor, separately from the language measures. It is concluded that language level is an important correlate of narrative performance more generally in this diagnostically heterogeneous sample, and that nonverbal temporal sequencing functions are important especially for conveying story information. Theoretical and clinical implications are discussed. © 2013 The Scandinavian Psychological Associations.
Deidda, Gabriele; Bozarth, Ignacio F; Cancedda, Laura
During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis. The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.
Full Text Available During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis.The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.
notwithstanding any other provision of law, no person shall be subject to any penalty for failing to comply with a collection of information if it does...disorders such as ASD. 15. SUBJECT TERMS Autism, placenta, tryptophan, serotonin, kynurenine, maternal immune activation, fetal brain 16...Several reference genes were tested, and TPB was found to be the most stable between treatment groups and time points in our samples. In order for
Savabieasfahani, M.; Alaani, S.; Tafash, M.; Dastgiri, S; Al-Sabbak, M.
Anthropogenic release of pollutants into the environment is especially harmful to growing fetuses and young children. These populations are at an increased risk of damage because exposure to pollutants during critical periods of development can cause many impairments. Children’s exposure to mixtures of metals could be responsible for the rising numbers of neurological disorders surfacing in Iraqi children. Titanium (Ti) and magnesium (Mg) are heavily used in war industries. Exposure to Ti and...
Romeo, Domenico M; Brogna, Claudia; Quintiliani, Michela; Baranello, Giovanni; Pagliano, Emanuela; Casalino, Tiziana; Sacco, Annalisa; Ricci, Daniela; Mallardi, Maria; Musto, Elisa; Sivo, Serena; Cota, Francesco; Battaglia, Domenica; Bruni, Oliviero; Mercuri, Eugenio
We aimed to estimate the frequency of sleep disorders in children with cerebral palsy (CP) using the Sleep Disturbance Scale for Children (SDSC) and to evaluate the relations between sleep disorders and motor, cognitive, and behavioral problems. One hundred and sixty-five children with CP ages 6-16 years (mean age, 11years) were assessed using the SDSC, the Gross Motor Function Classification System (GMFCS), the Wechsler Intelligence Scale for Children and the Child Behavior Check List (CBCL) to assess sleep, motor, cognitive, and behavioral problems, respectively. An abnormal total sleep score was found in 19% of children with CP; more than 40% of children had an abnormal score on at least one SDSC factor. The SDSC total score was significantly associated (P<.01) with mental retardation, epilepsy, CBCL scores, and level 5 on the GMFCS. Our results confirm that sleep disorders are common in children with cerebral palsy. The relationship between motor and cognitive behavior and epilepsy should be further explored to better understand how these factors influence one another to identify effective treatments and to improve the well-being of the child. Copyright © 2014 Elsevier B.V. All rights reserved.
Ye, Xin Cynthia; Ng, Isaiah; Seid-Karbasi, Puya; Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby; Wasserman, Wyeth W
The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome, Cat Eye syndrome, Kabuki syndrome
Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby
Background The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. Objective The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. Methods The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. Results A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome
Roche, Laura; Sigafoos, Jeff; Lancioni, Giulio E; O'Reilly, Mark F; Schlosser, Ralf W; Stevens, Michelle; van der Meer, Larah; Achmadi, Donna; Kagohara, Debora; James, Ruth; Carnett, Amarie; Hodis, Flaviu; Green, Vanessa A; Sutherland, Dean; Lang, Russell; Rispoli, Mandy; Machalicek, Wendy; Marschik, Peter B
Children with neurodevelopmental disorders often present with little or no speech. Augmentative and alternative communication (AAC) aims to promote functional communication using non-speech modes, but it might also influence natural speech production. To investigate this possibility, we provided AAC intervention to two boys with neurodevelopmental disorders and severe communication impairment. Intervention focused on teaching the boys to use a tablet computer-based speech-generating device (SGD) to request preferred stimuli. During SGD intervention, both boys began to utter relevant single words. In an effort to induce more speech, and investigate the relation between SGD availability and natural speech production, the SGD was removed during some requesting opportunities. With intervention, both participants learned to use the SGD to request preferred stimuli. After learning to use the SGD, both participants began to respond more frequently with natural speech when the SGD was removed. The results suggest that a rehabilitation program involving initial SGD intervention, followed by subsequent withdrawal of the SGD, might increase the frequency of natural speech production in some children with neurodevelopmental disorders. This effect could be an example of response generalization. Copyright © 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
Carpente, John; Manne, Stela; Gattino, Gustavo
Background: The Individual Music-Centered Assessment Profile for Neurodevelopmental Disorders (IMCAP-ND) is an evaluation instrument made up of three criterion-referenced rating scales designed to examine how clients perceive, interpret, and make music with the therapist while participating...... in individual improvisational music therapy. For this assessment instrument to be considered clinically relevant, it is essential to examine the degree of inter-rater reliability for each of the three rating scales. Objective: The purposes of this study are as follows: a) to determine the inter......-rater reliability of the three scales that make up the IMCAP-ND: Scale I: Musical Emotional Assessment Rating Scale (MEARS), Scale II: Musical Cognitive Perception Scale (MCPS), and Scale III: Musical Responsive Scale (MRS); b) to examine the inter-rater reliabilities of the unweighted and weighted overall MEARS...
Mühleisen, Thomas W; Reinbold, Céline S; Forstner, Andreas J; Abramova, Lilia I; Alda, Martin; Babadjanova, Gulja; Bauer, Michael; Brennan, Paul; Chuchalin, Alexander; Cruceanu, Cristiana; Czerski, Piotr M; Degenhardt, Franziska; Fischer, Sascha B; Fullerton, Janice M; Gordon, Scott D; Grigoroiu-Serbanescu, Maria; Grof, Paul; Hauser, Joanna; Hautzinger, Martin; Herms, Stefan; Hoffmann, Per; Kammerer-Ciernioch, Jutta; Khusnutdinova, Elza; Kogevinas, Manolis; Krasnov, Valery; Lacour, André; Laprise, Catherine; Leber, Markus; Lissowska, Jolanta; Lucae, Susanne; Maaser, Anna; Maier, Wolfgang; Martin, Nicholas G; Mattheisen, Manuel; Mayoral, Fermin; McKay, James D; Medland, Sarah E; Mitchell, Philip B; Moebus, Susanne; Montgomery, Grant W; Müller-Myhsok, Bertram; Oruc, Lilijana; Pantelejeva, Galina; Pfennig, Andrea; Pojskic, Lejla; Polonikov, Alexey; Reif, Andreas; Rivas, Fabio; Rouleau, Guy A; Schenk, Lorena M; Schofield, Peter R; Schwarz, Markus; Streit, Fabian; Strohmaier, Jana; Szeszenia-Dabrowska, Neonila; Tiganov, Alexander S; Treutlein, Jens; Turecki, Gustavo; Vedder, Helmut; Witt, Stephanie H; Schulze, Thomas G; Rietschel, Marcella; Nöthen, Markus M; Cichon, Sven
Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci. We conducted gene set enrichment analyses (GSEA) using 2.3 million single-nucleotide polymorphisms, 397 Reactome pathways and 24,025 patients with BD and controls. RNA expression of implicated individual genes and gene sets were examined in post-mortem brains across lifespan. Two pathways showed a significant enrichment after correction for multiple comparisons in the GSEA: GRB2 events in ERBB2 signaling, for which 6 of 21 genes were BD associated (P FDR = 0.0377), and NCAM signaling for neurite out-growth, for which 11 out of 62 genes were BD associated (P FDR = 0.0451). Most pathway genes showed peaks of RNA co-expression during fetal development and infancy and mapped to neocortical areas and parts of the limbic system. Pathway associations were technically reproduced by two methods, although they were not formally replicated in independent samples. Gene expression was explored in controls but not in patients. Pathway analysis in large GWAS data of BD and follow-up of gene expression patterns in healthy brains provide support for an involvement of neurodevelopmental processes in the etiology of this neuropsychiatric disease. Future studies are required to further evaluate the relevance of the implicated genes on pathway functioning and clinical aspects of BD. Copyright © 2017 Elsevier B.V. All rights reserved.
Montano, C Brendan; Rasgon, Natalie L; Herman, Barry K
Binge eating disorder (BED), now recognized as a distinct eating disorder in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, is the most prevalent eating disorder. Although nearly half of individuals with BED are obese, BED also occurs in nonobese individuals. Despite the relatively high percentage of weight loss treatment-seeking individuals meeting BED criteria, primary care physicians may not be familiar with or have ever diagnosed BED. Many providers may also have difficulty distinguishing BED as a contributory factor in obesity. This review differentiates BED from other causes of obesity by describing how obese individuals with BED differ from obese individuals without BED and from nonobese individuals with BED in areas including psychopathology, behavior, genetics, physiology, quality of life and productivity. The ways in which health-care providers can identify individuals who may have BED are also highlighted so the proper course of treatment is pursued. Overall, obese individuals with BED demonstrate a number of key characteristics that differentiate them from obese individuals without eating disorders, including increased impulsivity in response to food stimuli with loss of control over eating, resulting in the consumption of more calories. They also experience significant guilt and other negative emotions following a meal. In addition, individuals with BED patients have more psychiatric comorbidity, display more psychopathology, exhibit longer binge durations, consume more meals as snacks during the day and have less dietary restraint compared with individuals with BED who are not obese. However, the differences between individuals with BED who are obese versus not obese are not as prominent. Taken together, the evidence appears to support the conclusion that BED is a unique and treatable neurobehavioral disorder associated with distinct behavioral and psychological profiles and distinct medical and functional outcomes, and that
Kerns, Kimberly A; Macoun, Sarah; MacSween, Jenny; Pei, Jacqueline; Hutchison, Marnie
The current study investigated the efficacy of a game-based process specific intervention for improving attention and working memory in children with Fetal Alcohol Spectrum Disorders (FASD) and Autism Spectrum Disorders (ASD). The Caribbean Quest (CQ) is a 'serious game' that consists of five hierarchically structured tasks, delivered in an adaptive format, targeting different aspects of attention and/or working memory. In addition to game play, the intervention incorporates metacognitive strategies provided by trained educational assistants (EAs), to facilitate generalization and far transfer to academic and daily skills. EAs delivered the intervention to children (ages 6-13) during their regular school day, providing children with instruction in metacognitive strategies to improve game play, with participants completing approximately 12 hours of training over an 8 to 12 school week period. Pre- and post-test analyses revealed significant improvement on measures of working memory and attention, including reduced distractibility and improved divided attention skills. Additionally, children showed significant gains in performance on an academic measure of reading fluency, suggesting that training-related gains in attention and working memory transferred to classroom performance. Exit interviews with EAs revealed that the intervention was easily delivered within the school day, that children enjoyed the intervention, and that children transferred metacognitive strategies learned in game play into the classroom. Preliminary results support this game-based process specific intervention as a potentially effective treatment and useful tool for supporting cognitive improvements in children with FASD or ASD, when delivered as part of an overall treatment plan.
Jerrell, Jeanette M; McIntyre, Roger S; Park, Yong-Moon Mark
The greater severity and chronicity of illness in youths with co-occurring attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder deserve further investigation as to the risk imparted by comorbid conditions and the pharmacotherapies employed. A retrospective cohort design was employed, using South Carolina's Medicaid claims dataset covering outpatient and inpatient medical and psychiatric service claims with International Classification of Diseases, Ninth Revision, Clinical Modification diagnoses and medication prescriptions between January 1996 and December 2006 for patients ≤ 17 years of age. The cohort included 22,797 cases diagnosed with ADHD at a mean age of 7.8 years; 1,604 (7.0%) were diagnosed with bipolar disorder at a mean age of 12.2 years. The bipolar disorder group developed conduct disorder (CD)/oppositional defiant disorder (ODD), anxiety disorder, and a substance use disorder later than the ADHD-only group. The odds of a child with ADHD developing bipolar disorder were significantly and positively associated with a comorbid diagnosis of CD/ODD (adjusted odds ratio [aOR] = 4.01), anxiety disorder (aOR = 2.39), or substance use disorder (aOR = 1.88); longer treatment with methylphenidate, mixed amphetamine salts, or atomoxetine (aOR = 1.01); not being African American (aOR = 1.61); and being treated with certain antidepressant medications, most notably fluoxetine (aOR = 2.00), sertraline (aOR = 2.29), bupropion (aOR = 2.22), trazodone (aOR = 2.15), or venlafaxine (aOR = 2.37) prior to the first diagnosis of mania. Controlling for pharmacotherapy differences, incident bipolar disorder was more likely in individuals clustering specific patterns of comorbid psychiatric disorders, suggesting that there are different pathways to bipolarity and providing a clinical impetus for prioritizing prevention and preemptive strategies to reduce their hazardous influence. © Copyright 2014 Physicians Postgraduate Press, Inc.
Karen S. Ho
Full Text Available Copy number variants (CNVs detected by chromosomal microarray analysis (CMA significantly contribute to understanding the etiology of autism spectrum disorder (ASD and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory. Using a 2.8 million probe microarray optimized for the detection of CNVs associated with neurodevelopmental disorders, we report an overall CNV detection rate of 28.1% in 10,351 consecutive patients, which rises to nearly 33% in cases without ASD, with only developmental delay/intellectual disability (DD/ID and/or multiple congenital anomalies (MCA. The overall detection rate for individuals with ASD is also significant at 24.4%. The detection rate and pathogenic yield of CMA vary significantly with the indications for testing, age, and gender, as well as the specialty of the ordering doctor. We note discrete differences in the most common recurrent CNVs found in individuals with or without a diagnosis of ASD.
Rossignol, Rafaëlle; Ranchon-Cole, Isabelle; Pâris, Arnaud; Herzine, Ameziane; Perche, Astrid; Laurenceau, David; Bertrand, Pauline; Cercy, Christine; Pichon, Jacques; Mortaud, Stéphane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier
Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the visual cortical area characterized by the deregulation of axon growth/guidance and dendrite spine immaturity of neurons. However, visual perception had not been addressed, although the retina is part of the central nervous system with a common embryonic origin. Therefore, we investigated retinal perception, the first event of vision, in a murine model of MD with autistic features. We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. Indeed, In Fmr1 KO mice had a lower retinal function characterized by a decreased photoreceptors neuron response, due to a 40% decrease in Rhodopsin content and to Rod Outer Segment destabilization. In addition, we observed an alteration of the visual signal transmission between photoreceptors and the inner retina which could be attributed to deregulations of pre- and post- synaptic proteins resulting in retinal neurons synaptic destabilization and to retinal neurons immaturity. Thus, for the first time, we demonstrated that retinal perception is altered in a murine model of MD with autistic features and that there are strong similarities between cerebral and retinal cellular and molecular defects. Our results suggest that both visual perception and integration must be taken into account in assessing visual sensory impairments in MD and ASD.
Gettings, Sheryl; Franco, Fabia; Santosh, Paramala J
Siblings of children with chronic illness and disabilities are at increased risk of negative psychological effects. Support groups enable them to access psycho-education and social support. Barriers to this can include the distance they have to travel to meet face-to-face. Audio-conferencing, whereby three or more people can connect by telephone in different locations, is an efficient means of groups meeting and warrants exploration in this healthcare context. This study explored the feasibility of audio-conferencing as a method of facilitating sibling support groups. A longitudinal design was adopted. Participants were six siblings (aged eight to thirteen years) and parents of children with complex neurodevelopmental disorders attending the Centre for Interventional Paediatric Psychopharmacology (CIPP). Four of the eight one-hour weekly sessions were held face-to-face and the other four using audio-conferencing. Pre- and post-intervention questionnaires and interviews were completed and three to six month follow-up interviews were carried out. The sessions were audio-recorded, transcribed and thematic analysis was undertaken. Audio-conferencing as a form of telemedicine was acceptable to all six participants and was effective in facilitating sibling support groups. Audio-conferencing can overcome geographical barriers to children being able to receive group therapeutic healthcare interventions such as social support and psycho-education. Psychopathology ratings increased post-intervention in some participants. Siblings reported that communication between siblings and their family members increased and siblings' social network widened. Audio-conferencing is an acceptable, feasible and effective method of facilitating sibling support groups. Siblings' clear accounts of neuropsychiatric symptoms render them reliable informants. Systematic assessment of siblings' needs and strengthened links between Child and Adolescent Mental Health Services, school counsellors and
Full Text Available Recent studies of the hippocampus have suggested that a network of genes is associated with the regulation of the GAD₆₇ (GAD1 expression and may play a role in γ-amino butyric acid (GABA dysfunction in schizophrenia (SZ and bipolar disorder (BD. To obtain a more detailed understanding of how GAD₆₇ regulation may result in GABAergic dysfunction, we have developed an in vitro model in which GABA cells are differentiated from the hippocampal precursor cell line, HiB5. Growth factors, such as PDGF, and BDNF, regulate the GABA phenotype by inducing the expression of GAD₆₇ and stimulating the growth of cellular processes, many with growth cones that form appositions with the cell bodies and processes of other GAD₆₇-positive cells. These changes are associated with increased expression of acetylated tubulin, microtubule-associated protein 2 (MAP2 and the post-synaptic density protein 95 (PSD95. The addition of BDNF, together with PDGF, increases the levels of mRNA and protein for GAD₆₇, as well as the high affinity GABA uptake protein, GAT1. These changes are associated with increased concentrations of GABA in the cytoplasm of "differentiated" HiB5 neurons. In the presence of Ca²⁺ and K⁺, newly synthesized GABA is released extracellularly. When the HiB5 cells appear to be fully differentiated, they also express GAD₆₅, parvalbumin and calbindin, and GluR subtypes as well as HDAC1, DAXX, PAX5, Runx2, associated with GAD₆₇ regulation. Overall, these results suggest that the HiB5 cells can differentiate into functionally mature GABA neurons in the presence of gene products that are associated with GAD₆₇ regulation in the adult hippocampus.
Mariën, Peter; Vidts, Annelies; Van Hecke, Wim; De Surgeloose, Didier; De Belder, Frank; Parizel, Paul M; Engelborghs, Sebastiaan; De Deyn, Peter P; Verhoeven, Jo
This paper reports the longitudinal clinical, neurocognitive, and neuroradiological findings in an adolescent patient with nonprogressive motor and cognitive disturbances consistent with a diagnosis of developmental coordination disorder (DCD). In addition to prototypical DCD, the development of mastication was severely impaired, while no evidence of swallowing apraxia, dysphagia, sensorimotor disturbances, abnormal tone, or impaired general cognition was found. He suffered from bronchopulmonary dysplasia and was ventilated as a newborn for 1.5 months. At the age of 3 months, a ventriculoperitoneal shunt was surgically installed because of obstructive hydrocephalus secondary to perinatal intraventricular bleeding. At the age of 5 years, the patient's attempts to masticate were characterized by rough, effortful, and laborious biting movements confined to the vertical plane. Solid food particles had a tendency to get struck in his mouth and there was constant spillage. As a substitute for mastication, he moved the unground food with his fingers in a lateral direction to the mandibular and maxillary vestibule to externally manipulate and squeeze the food between cheek and teeth with the palm of his hand. Once the food was sufficiently soft, the bolus was correctly transported by the tongue in posterior direction and normal deglutition took place. Repeat magnetic resonance imaging (MRI) during follow-up disclosed mild structural abnormalities as the sequelae of the perinatal intraventricular bleeding, but this could not explain impaired mastication behavior. Quantified Tc-99m-ethylcysteinate dimer single-photon emission computed tomography (Tc-99m-ECD SPECT), however, revealed decreased perfusion in the left cerebellar hemisphere, as well as in both inferior lateral frontal regions, both motor cortices, and the right anterior and lateral temporal areas. Anatomoclinical findings in this patient with DCD not only indicate that the functional integrity of the
Lionel, Anath C; Tammimies, Kristiina; Vaags, Andrea K
during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89,985 individuals across 10 sites, including 64,114 neurodevelopmental disorder...... in the neurodevelopmental disorder subjects (p=0.002) compared with 44,085 population-based controls. Frequent phenotypes observed in individuals with such deletions included Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD), speech delay, anxiety and Obsessive Compulsive Disorder (OCD......). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with neurodevelopmental disorders, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin...
Kerekes, Nóra; Lundström, Sebastian; Chang, Zheng; Tajnia, Armin; Jern, Patrick; Lichtenstein, Paul; Nilsson, Thomas; Anckarsäter, Henrik
Background. Previous research has supported gender-specific aetiological factors in oppositional defiant disorder (ODD) and conduct disorder (CD). The aims of this study were to identify gender-specific associations between the behavioural problems-ODD/CD-like problems-and the neurodevelopmental disorders-attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD)-and to investigate underlying genetic effects. Methods. 17,220 twins aged 9 or 12 were screened using the Autism-Tics, AD/HD and other Comorbidities inventory. The main covariates of ODD- and CD-like problems were investigated, and the relative importance of unique versus shared hereditary and environmental effects was estimated using twin model fitting. Results. Social interaction problems (one of the ASD subdomains) was the strongest neurodevelopmental covariate of the behavioural problems in both genders, while ADHD-related hyperactivity/impulsiveness in boys and inattention in girls stood out as important covariates of CD-like problems. Genetic effects accounted for 50%-62% of the variance in behavioural problems, except in CD-like problems in girls (26%). Genetic and environmental effects linked to ADHD and ASD also influenced ODD-like problems in both genders and, to a lesser extent, CD-like problems in boys, but not in girls. Conclusions. The gender-specific patterns should be considered in the assessment and treatment, especially of CD.
Pearl, Phillip L; Sable, Craig; Evans, Sarah; Knight, Joseph; Cunningham, Parker; Lotrecchiano, Gaetano R; Gropman, Andrea; Stuart, Sheela; Glass, Penny; Conway, Anne; Ramadan, Issam; Paiva, Tania; Batshaw, Mark L; Packer, Roger J
A telemedicine program was developed between the Children's National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE. Weekly telemedicine consultations are provided by a multidisciplinary faculty. Patients are presented in the UAE with their therapists and families. Real-time (video over Internet protocol; average connection, 768 kilobits/s) telemedicine conferences are held weekly following previews of medical records. A full consultation report follows each telemedicine session. Between February 29, 2012 and June 26, 2013, 48 weekly 1-h live interactive telemedicine consultations were conducted on 48 patients (28 males, 20 females; age range, 8 months-22 years; median age, 5.4 years). The primary diagnoses were cerebral palsy, neurogenetic disorders, autism, neuromuscular disorders, congenital anomalies, global developmental delay, systemic disease, and epilepsy. Common comorbidities were cognitive impairment, communication disorders, and behavioral disorders. Specific recommendations included imaging and DNA studies, antiseizure management, spasticity management including botulinum toxin protocols, and specific therapy modalities including taping techniques, customized body vests, and speech/language and behavioral therapy. Improved outcomes reported were in clinician satisfaction, achievement of therapy goals for patients, and requests for ongoing sessions. Weekly telemedicine sessions coupled with triannual training conferences were successfully implemented in a clinical program dedicated to patients with neurodevelopmental disabilities by the Center for Neuroscience at CNMC and the UAE government. International consultations in neurodevelopmental
Keller, Warren D; Tillery, Kim L; McFadden, Sandra L
To determine whether children with a nonverbal learning disability (NVLD) have a higher incidence of auditory processing disorder (APD), especially in the tolerance-fading memory type of APD, and what associations could be found between performance on neuropsychological, intellectual, memory, and academic measures and APD. Eighteen children with NVLD ranging in age from 6 to 18 years received a central auditory processing test battery to determine incidence and subtype of APD. Psychological measures for assessment of NVLD included the Wechsler Scales, Wide Range Assessment of Memory and Learning, and Wechsler Individual Achievement Test. Neuropsychological measures included the Category Test, Trails A and B, the Tactual Performance Test, Grooved Pegs, and the Speech Sounds Perception Test. Neuropsychological test scores of the NVLD+APD and NVLD groups were compared using analysis of covariance procedures, with Verbal IQ and Performance IQ as covariates. Sixty-one percent of the children were diagnosed with APD, primarily in the tolerance-fading memory subtype. The group of children with APD and NVLD had significantly lower scores on Verbal IQ, Digit Span, Sentence Memory, Block Design, and Speech Sounds Perception than children without APD. An ancillary finding was that the incidence of attention deficit/hyperactivity disorder was significantly higher in children with NVLD (with and without APD) than in the general population. The results indicate that children with NVLD are at risk for APD and that there are several indicators on neuropsychological assessment suggestive of APD. Collaborative, interdisciplinary evaluation of children with learning disorders is needed in order to provide effective therapeutic interventions.
Full Text Available Background. Previous research has supported gender-specific aetiological factors in oppositional defiant disorder (ODD and conduct disorder (CD. The aims of this study were to identify gender-specific associations between the behavioural problems–ODD/CD-like problems–and the neurodevelopmental disorders–attention deficit hyperactivity disorder (ADHD, autism spectrum disorder (ASD–and to investigate underlying genetic effects.Methods. 17,220 twins aged 9 or 12 were screened using the Autism–Tics, AD/HD and other Comorbidities inventory. The main covariates of ODD- and CD-like problems were investigated, and the relative importance of unique versus shared hereditary and environmental effects was estimated using twin model fitting.Results. Social interaction problems (one of the ASD subdomains was the strongest neurodevelopmental covariate of the behavioural problems in both genders, while ADHD-related hyperactivity/impulsiveness in boys and inattention in girls stood out as important covariates of CD-like problems. Genetic effects accounted for 50%–62% of the variance in behavioural problems, except in CD-like problems in girls (26%. Genetic and environmental effects linked to ADHD and ASD also influenced ODD-like problems in both genders and, to a lesser extent, CD-like problems in boys, but not in girls.Conclusions. The gender-specific patterns should be considered in the assessment and treatment, especially of CD.
McClellan, Jon M.; And Others
This study of 95 youths previously diagnosed with psychotic disorders found that at follow-up, 24 had a diagnosis of schizophrenia, 9 with psychotic mood disorders, 5 with personality disorders, and 1 with schizo-affective disorder. The study confirmed findings regarding early onset schizophrenia and psychotic mood disorders and emphasized the…
Pagel, Tobias; Baldessarini, Ross J; Franklin, Jeremy; Baethge, Christopher
Information on basic demographic and clinical characteristics of schizoaffective disorder is sparse and subject to sampling bias and low diagnostic reliability. In the present study we aimed to: (i) estimate the demographic and clinical descriptors in schizoaffective disorder patients and (ii) compare the findings with those with schizophrenia and bipolar disorder. To minimize sampling bias and low reliability, we systematically reviewed studies that simultaneously compared schizoaffective, schizophrenia, and bipolar disorder patients. We estimated demographic, clinical, and psychometric characteristics based on weighted pooling, and compared disorders by meta-analysis. We also estimated whether schizoaffective disorder is closer to schizophrenia or to bipolar disorder. We identified 50 studies that included 18312 patients. Most characteristics of the 2684 schizoaffective disorder patients fell between those of 4814 diagnosed with bipolar disorder and 10814 with schizophrenia. However, the schizoaffective group had the highest proportion of women (52%), had the youngest age at illness onset (23.3 ± 3.8 years), and had the highest standardized ratings of psychosis and depression. Differences in pooled parameters between schizoaffective versus schizophrenia and versus bipolar disorder subjects were similar. Values for patients with schizoaffective disorders mostly were intermediate between schizophrenia and bipolar disorder. However, the majority of studies showed schizoaffective patients to be more like schizophrenia than bipolar disorder patients in seven out of nine demographic and clinical categories as well as in five out of eight psychometric measures. These results remained similar when we restricted the analyses to studies with psychotic bipolar disorder patients only or to studies using the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IIIR and DSM-IV only. The present study provided estimates of important characteristics of schizoaffective
Gavriel-Fried, Belle; Peled, Einat; Ajzenstadt, Mimi
Women with a gambling problem bear a negative social stigma. Based on the theory of symbolic interactionism, this study examined the construction of social identities by 17 Israeli women diagnosed with a gambling disorder. Interpretive interactionist analysis revealed how they construct their identity through correspondence with patterns of behavior that are perceived as normative, and identified 3 major themes: "I'm not actually a gambler" (the presentation of a multidimensional identity comprising other identities besides that of a gambler); "Staying normative during gambling"; and "I have changed" (reformed gamblers' presentation of themselves as having changed for the better). The findings underscore the complex dialogue behind the identity construction put forward by women with a gambling problem, their yearning to be perceived by society as normative women and to fit in despite their stigmatized behavior, and the tension they feel in society's relationship toward them. The findings also suggest that practitioners who work with women gamblers may want to pay attention to the power relations shaping identity construction in an interview setting, and look more closely at the women's awareness of the stigma they bear and the complex processes that make up their multidimensional identity. (c) 2015 APA, all rights reserved).
Full Text Available Abstract Background A previous study showed that a high percentage of children diagnosed with Hyperkinetic Disorder (HKD displayed a consistent pattern of motor function problems. The purpose of this study was to investigate the effect of methylphenidate (MPH on such motor performance in children with HKD Methods 25 drug-naïve boys, aged 8–12 yr with a HKD-F90.0 diagnosis, were randomly assigned into two groups within a double blind cross-over design, and tested with a motor assessment instrument, during MPH and placebo conditions. Results The percentage of MFNU scores in the sample indicating 'severe motor problems' ranged from 44–84%, typically over 60%. Highly significant improvements in motor performance were observed with MPH compared to baseline ratings on all the 17 subtests of the MFNU 1–2 hr after administration of MPH. There were no significant placebo effects. The motor improvement was consistent with improvement of clinical symptoms. Conclusion The study confirmed our prior clinical observations showing that children with ADHD typically demonstrate marked improvements of motor functions after a single dose of 10 mg MPH. The most pronounced positive MPH response was seen in subtests measuring either neuromotor inhibition, or heightened muscular tone in the gross movement muscles involved in maintaining the alignment and balance of the body. Introduction of MPH generally led to improved balance and a generally more coordinated and controlled body movement.
Gillberg, Christopher; Lundström, Sebastian; Fernell, Elisabeth; Nilsson, Gill; Neville, Brian
There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday. Diagnoses of febrile seizures (n = 492) and epilepsy (n = 282) were based on data from the Swedish National Patient Register. Prevalence of ESSENCE in individuals with febrile seizures and epilepsy was compared with prevalence in the twin population without seizures. The association between febrile seizures and ESSENCE was considered before and after adjustment for epilepsy. Age of diagnosis of febrile seizures and epilepsy was considered as a possible correlate of ESSENCE in febrile seizures and epilepsy. The rate of ESSENCE in febrile seizures and epilepsy was significantly higher than in the total population without seizures (all P < 0.001). After adjusting for epilepsy, a significant association between febrile seizures and autism spectrum disorder, developmental coordination disorder, and intellectual disability remained. Earlier age of onset was associated with all ESSENCE except attention-deficit/hyperactivity disorder in epilepsy but not with ESSENCE in febrile seizures. In a nationally representative sample of twins, there was an increased rate of ESSENCE in childhood epilepsy and in febrile seizures. Febrile seizures alone could occur as a marker for a broader ESSENCE phenotype. Copyright © 2017 Elsevier Inc. All rights reserved.
Bay, Bjørn; Mortensen, Erik Lykke; Kesmodel, Ulrik Schiøler
To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception. Systematic review. Not applicable. Children born after medically assisted reproduction vs. reference groups of spontaneously conceived children. Data were reviewed from worldwide published articles, without restrictions as to publication year or language. A total of 80 studies included between 31 and 2,446,044 children. Child neurodevelopmental outcomes categorized as cognitive, behavioral, emotional or psychomotor development, or diagnoses of mental disorders. For infants, studies on psychomotor development showed no deficits, but few investigated cognitive or behavioral development. Studies on toddlers generally reported normal cognitive, behavioral, socio-emotional, and psychomotor development. For children in middle childhood, development seems comparable in children born after assisted reproduction and controls, although fewer studies have been conducted with follow-up to this age. Very few studies have assessed neurodevelopmental outcomes among teens, and the results are inconclusive. Studies investigating the risk of diagnoses of mental disorders are generally large, with long follow-up, but the results are inconsistent. It may tentatively be concluded that the neurodevelopment of children born after fertility treatment is overall comparable to that in children born after spontaneous conception. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Appleton, R E; Jones, A P; Gamble, C; Williamson, P R; Wiggs, L; Montgomery, P; Sutcliffe, A; Barker, C; Gringras, P
Difficulties in initiating and maintaining sleep are common in children with neurodevelopmental disorders. Melatonin is unlicensed in children yet widely prescribed for sleep problems. To determine whether or not immediate-release melatonin is beneficial compared with placebo in improving total duration of night-time sleep in children with neurodevelopmental problems. Randomised, double-blind, placebo-controlled, parallel study. Hospitals throughout England and Wales recruited patients referred by community paediatricians and other clinical colleagues. Children with neurodevelopmental problems aged from 3 years to 15 years 8 months who did not fall asleep within 1 hour of lights out or who had children were screened to enter the trial; 263 (96%) children were registered and completed the 4- to 6-week behaviour therapy period and 146 (56%) children were randomised, of whom 110 (75%) contributed data for the primary outcome. The difference in TST time between the melatonin and placebo groups adjusted for baseline was 22.43 minutes [95% confidence interval (CI) 0.52 to 44.34 minutes; p = 0.04] measured using sleep diaries. A reduction in SOL, adjusted for baseline, was seen for melatonin compared with placebo when measured by sleep diaries (-37.49 minutes, 95% CI -55.27 to -19.71 minutes; p children treated with melatonin slept 23 minutes longer than those in the placebo group; however, the upper limit of the confidence interval was less than 1 hour, the minimum clinically worthwhile difference specified at the outset of the trial. Melatonin is effective in reducing SOL in children with neurodevelopmental delay by a mean of 45 minutes; a value of 30 minutes was specified a priori to be clinically important. Future studies should be conducted over longer periods and directly compare different formulations of melatonin with conventional hypnotic and sedative medications. It would also be important to study groups of children with specific neurological disorders. Current
Aman, Michael G.; Vinks, Alexander A.; Remmerie, Bart; Mannaert, Erik; Ramadan, Yaser; Masty, Jessica; Lindsay, Ronald L.; Malone, Krista
Background Risperidone is a second-generation antipsychotic agent widely used in the treatment of schizophrenia and other psychotic disorders in adults. Risperidone is probably the most frequently used atypical antipsychotic in the pediatric population. Objectives The goals of this study were to estimate the pharmacokinetic parameters of risperidone and its enantiomers in a pediatric population and explore relationships between saliva and plasma concentrations. Methods Eligible patients, between 4 and 15 years of age, included those taking a stable dose of oral risperidone ranging from 0.01 to 0.07 mg/kg BID for ≥4 weeks to treat psychiatric or neurodevelopmental conditions. A trough blood level and predose saliva sample were collected at study initiation; the regular risperidone dose was administered; and paired samples of blood and saliva were collected at 1, 2, 4, and 7 hours postdose. Plasma/saliva concentrations of risperidone and enantiomers of its principal active metabolite, 9-hydroxyrisperidone (9-OH-risperidone), were measured using a chiral liquid chromatography–tandem mass spectrometry assay. Standard pharmacokinetic parameters were calculated. Cytochrome P450 2D6 genotypes of *3,*4,*5 deletion and duplication were determined. Results The study included 19 patients (age range, 4 years 2 months to 15 years 11 months). Mean (SD) values for Cmax, t1/2, and AUC 0 to 12 hours for risperidone in plasma were 15.9 (22.2) ng/mL, 3.0 (2.3) h, and 92.1 (200.6) ng · h/mL, respectively. Corresponding values in saliva were 12.0 (21.0) ng/mL, 3.4 (3.2) h, and 27.8 (38.7) ng · h/mL, respectively. Mean (SD) plasma enantiomer values for Cmax and AUC calculated up to the last observation were: (+)-9-OH-risperidone, 13.6 (10.0) ng/mL and 73.6 (52.3) ng · h/mL; (−)-9-OH-risperidone, 4.9 (3.1) ng/mL and 29.3 (19.1) ng · h/mL. Corresponding enantiomer values in saliva were: (+)-9-OH-risperidone, 5.2 (8.8) ng/mL and 15.6 (8.9) ng · h/mL; (−)-9-OH-risperidone, 5
Coleman, Karen J.; Lutsky, Marta A.; Yau, Vincent; Qian, Yinge; Pomichowski, Magdalena E.; Crawford, Phillip M.; Lynch, Frances L.; Madden, Jeanne M.; Owen-Smith, Ashli; Pearson, John A.; Pearson, Kathryn A.; Rusinak, Donna; Quinn, Virginia P.; Croen, Lisa A.
To identify factors associated with valid Autism Spectrum Disorder (ASD) diagnoses from electronic sources in large healthcare systems. We examined 1,272 charts from ASD diagnosed youth <18 years old. Expert reviewers classified diagnoses as confirmed, probable, possible, ruled out, or not enough information. A total of 845 were classified with…
Neurodevelopmental Disorders across the Lifespan: A Neuroconstructivist Approach. Edited by Emily K. Farran and Annette Karmiloff-Smith, Oxford University Press, 2012; 394 pages. Price: £49.99, ISBN 978-0-19-959481-8
Full Text Available The first book to consider atypical development across multiple levels (genes, brain, behavior, environment, encouraging readers to think dynamically and developmentally, rather than examining static snapshots of neurodevelopmental disorders.Provides the most comprehensive review of development across cognitive domains (and their interactions, making clinicians more sensitive to looking for underlying cognitive and neural differences even when behavioral scores are in the normal range.Considers development from infancy to adulthood, encouraging the reader to think about the importance of development in understanding neurodevelopmental disorders, for example, by considering the impact that differences in low-level processes in infancy can have on later developing cognitive processes.
Whitaker, Ashley M; Bell, Terece S; Houskamp, Beth M; O'Callaghan, Erin T
Intellectual giftedness is associated with strong strategic verbal memory while attention-deficit hyperactivity disorder (ADHD) is associated with strategic verbal memory deficits; however, no previous research has explored how this contradiction manifests in gifted populations with diagnoses of ADHD. The purpose of this study was to explore strategic verbal memory processes among intellectually gifted youth with and without ADHD to provide clarification regarding this specific aspect of neuropsychological functioning within this population. One hundred twenty-five youth completed neuropsychological evaluations including the Wechsler Intelligence Scale for Children-Fourth Edition and California Verbal Learning Test-Children's Version (CVLT-C). Results revealed significant differences between groups, with intellectually gifted youth with ADHD achieving lower T scores on CVLT-C Trials 1 through 5 compared with intellectually gifted youth without ADHD, and intellectually gifted youth with ADHD achieving higher T scores than youth of average intellectual abilities with ADHD. Additionally, repeated-measures analysis of variance revealed a main effect improvement among gifted youth with ADHD in short-delay recall when provided with organizational cues. Findings revealed new evidence about the role of twice exceptionality (specifically intellectual giftedness and ADHD) in strategic verbal memory and have important implications for parents, educators, psychologists and neuropsychologists, and other mental health professionals working with this population.
Allen, J L; Oberdorster, G; Morris-Schaffer, K; Wong, C; Klocke, C; Sobolewski, M; Conrad, K; Mayer-Proschel, M; Cory-Slechta, D A
Accumulating evidence from both human and animal studies show that brain is a target of air pollution. Multiple epidemiological studies have now linked components of air pollution to diagnosis of autism spectrum disorder (ASD), a linkage with plausibility based on the shared mechanisms of inflammation. Additional plausibility appears to be provided by findings from our studies in mice of exposures from postnatal day (PND) 4-7 and 10-13 (human 3rd trimester equivalent), to concentrated ambient ultrafine (UFP) particles, considered the most reactive component of air pollution, at levels consistent with high traffic areas of major U.S. cities and thus highly relevant to human exposures. These exposures, occurring during a period of marked neuro- and gliogenesis, unexpectedly produced a pattern of developmental neurotoxicity notably similar to multiple hypothesized mechanistic underpinnings of ASD, including its greater impact in males. UFP exposures induced inflammation/microglial activation, reductions in size of the corpus callosum (CC) and associated hypomyelination, aberrant white matter development and/or structural integrity with ventriculomegaly (VM), elevated glutamate and excitatory/inhibitory imbalance, increased amygdala astrocytic activation, and repetitive and impulsive behaviors. Collectively, these findings suggest the human 3rd trimester equivalent as a period of potential vulnerability to neurodevelopmental toxicity to UFP, particularly in males, and point to the possibility that UFP air pollution exposure during periods of rapid neuro- and gliogenesis may be a risk factor not only for ASD, but also for other neurodevelopmental disorders that share features with ASD, such as schizophrenia, attention deficit disorder, and periventricular leukomalacia. Copyright © 2015 Elsevier B.V. All rights reserved.
Johnson, Sheri L; Eisner, Lori R; Carver, Charles S
Students at risk for bipolar disorder endorse highly ambitious goals. This study examined expectations for the future among people with actual bipolar disorder, versus people with no history of mood disorder and persons with history of unipolar depression. One hundred and three students were assessed for Axis I disorders and completed a measure of expected life outcomes. History of mania, but not history of depression, related to higher expectations of achieving popular fame and wealth. People with history of mania anticipate great success in domains involving public recognition.
Scott, James G; Giørtz Pedersen, Marianne; Erskine, Holly E
Disruptive behavior disorders (DBDs), inclusive of oppositional defiant disorder (ODD) and conduct disorder (CD), are associated with outcomes likely to increase risk of mortality. Using Danish National Registers, a total of 1.92 million individuals including 9495 individuals with DBDs diagnosed ...
Dyck, Murray J.; Piek, Jan P.; Patrick, Jeff
We tested whether developmental coordination disorder (DCD) and mixed receptive expressive language disorder (RELD) are valid diagnoses by assessing whether they are separated from each other, from other childhood disorders, and from normality by natural boundaries termed zones of rarity. Standardized measures of intelligence, language, motor…
Yu, Junhan; Ross, Colin A.; Keyes, Benjamin B.; Li, Ying; Dai, Yunfei; Zhang, TianHong; Wang, Lanlan; Fan, Qing; Xiao, Zeping
The purpose of the study was to assess the prevalence of dissociative disorders in a sample of Chinese psychiatric inpatients. Participants in the study consisted of 569 consecutively admitted inpatients at Shanghai Mental Health Center, China, of whom 84.9% had a clinical diagnosis of schizophrenia based on the Chinese Classification and Diagnostic Criteria for Mental Disorders, Version 3 (CCMD-3). All participants completed a self-report measure of dissociation, the Dissociative Experiences...
Suppes, Trisha; Ostacher, Michael
For the first time in 20 years, the American Psychiatric Association (APA) updated the psychiatric diagnostic system for mood disorders in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Perhaps one of the most notable changes in the DSM-5 was the recognition of the possibility of mixed symptoms in major depression and related disorders (MDD). While MDD and bipolar and related disorders are now represented by 2 distinct chapters, the addition of a mixed features specifier to MDD represents a structural bridge between bipolar and major depression disorders, and formally recognizes the possibility of a mix of hypomania and depressive symptoms in someone who has never experienced discrete episodes of hypomania or mania. This article reviews historical perspectives on "mixed states" and the recent literature, which proposes a range of approaches to understanding "mixity." We discuss which symptoms were considered for inclusion in the mixed features specifier and which symptoms were excluded. The assumption that mixed symptoms in MDD necessarily predict a future bipolar course in patients with MDD is reviewed. Treatment for patients in a MDD episode with mixed features is critically considered, as are suggestions for future study. Finally, the premise that mood disorders are necessarily a spectrum or a gradient of severity progressing in a linear manner is argued.
Low Nancy CP
Full Text Available Abstract Background Parental history of mood or anxiety disorders is one of the strongest and most consistent risk factors for the development of these disorders in offspring. Gaps remain however in our knowledge of whether maternal or paternal disorders are more strongly associated with offspring disorders, and whether the association exists in non-clinical samples. This study uses a large population-based sample to test if maternal or paternal history of mood and/or anxiety disorders increases the risk of mood and/or anxiety disorders, or symptoms of specific anxiety disorders, in offspring. Methods Data were drawn from the Nicotine Dependence in Teens Study, a prospective cohort investigation of 1293 grade 7 students. Data on mental health outcomes were collected in mailed self-report questionnaires when participants were aged 20.4 (0.7 years on average. Parental data were collected in mailed self-report questionnaires. This current analysis pertains to 564 participants with maternal and/or paternal data. The association between maternal and paternal history and each of diagnosed anxiety disorder, diagnosed mood disorder, and symptoms of specific anxiety disorders in offspring was studied in multivariate logistic regression. Results A higher proportion of mothers than fathers had a diagnosed mood/anxiety disorder (23% versus 12%. Similarly, 14% of female offspring had a diagnosed mood/anxiety disorder, compared to 6% of male offspring. The adjusted odds ratio (95% confidence interval for maternal history was 2.2 (1.1, 4.5 for diagnosed mood disorders, 4.0 (2.1, 7.8 for diagnosed anxiety disorders, and 2.2 (1.2, 4.0 for social phobia symptoms. Paternal history was not associated with any of the mental health outcomes in offspring. Conclusion Maternal, but not paternal mood/anxiety disorders were associated with diagnosed psychiatric disorders, as well as symptoms of specific anxiety disorders, in offspring. Efforts to detect mood and anxiety
Møller Luef, Birgitte; Andersen, Louise B; Renault, Kristina Martha
INTRODUCTION: A correct diagnosis of preeclampsia and gestational hypertension is important for treatment and epidemiological studies. Changes in diagnostic criteria and underreporting in certain subsets of patients may hamper validity of the diagnoses. MATERIALS AND METHODS: We validated...... the discharge diagnoses of preeclampsia and gestational hypertension, which are reported to the Danish National Patient Registry, in a cohort of 2163 pregnant women by retrospective evaluation of electronic hospital data. RESULTS: A preeclampsia discharge diagnosis was found in 113 (5.2%) of the participants....... After validation, significantly more patients fulfilled criteria for diagnosis of preeclampsia (n = 163, 7.5%, p = 0.002); more had severe preeclampsia, 14 (0.6%) vs. 70 (3.2%), p preeclampsia...
Combs, Gene; Oshman, Lauren
Personality disorders are a group of diagnostic categories applicable when people show personality traits that are so extreme they cause clear difficulties in their lives and relationships. More widespread agreement is found on sorting by three broad categories (odd/eccentric, dramatic/emotional/erratic, and anxious/fearful) than by more specific subtypes. Primary care physicians need to recognize when extreme personality traits are causing difficulties in their relationships with patients and to have a way to approach these difficulties when they arise. This article reviews current thinking on the diagnosis and treatment of personality disorders, focusing especially on dramatic/emotional/erratic disorders, which are those most often problematic in clinical settings. Copyright © 2016 Elsevier Inc. All rights reserved.
Dietz, C.; Swinkels, S.H.N.; Buitelaar, J.K.; Daalen, E. van; Engeland, H. van
AIM: To investigate cognitive development in preschool-age children diagnosed with Autistic Spectrum Disorder (ASD; N = 39) compared with that of children diagnosed with mental retardation (MR; N = 14) and normally developing children (NC; N = 36). METHOD: In a prospective longitudinal study,
Landolt, Markus A.; Vollrath, Margarete; Laimbacher, Joseph; Gnehm, Hanspeter E.; Sennhauser, Felix H.
Objective: To determine the prevalence, course, and predictors of posttraumatic stress disorder (PTSD) in mothers and fathers of children with newly diagnosed type 1 diabetes. Method: Forty-nine mothers and 48 fathers of 52 children (response rate 65%) with newly diagnosed diabetes (age 6.5-15 years) were assessed at 6 weeks, 6 months, and 12…
Mendenhall, Amy N.
In this study, I investigated patterns and predictors of service utilization for children with mood disorders. The Behavioral Model for Health Care Utilization was used as an organizing framework for identifying predictors of the number and quality of services utilized. Hierarchical regression was used in secondary data analyses of the…
Overdiagnosis or misdiagnosis of schizophrenia among African American clients is a longstanding and critical disparity in mental health services. Overdiagnosis of schizophrenia is detrimental because it increases the potential for treatment with the wrong medications. Inadequate assessment of mood disorders, co-occurring substance abuse, and…
Buhmann, Cæcilie Böck; Andersen, Henrik Steen
The post-traumatic stress disorder (PTSD) diagnosis has undergone large developments. With the changes in DSM-5 and the proposed changes in ICD-11, the two systems move in different directions. Treatment for PTSD is developing, but the evidence for the effect is lacking behind. Trauma...
... note how quickly you fall asleep and how long it takes you to reach various stages of sleep, especially REM (rapid eye movement) sleep, during your ... during these short designated naptimes or take a long time to fall asleep. People ... treatment for a sleep disorder, as are those who quickly reach REM ...
Hiller, Rachel M.; Young, Robyn L.; Weber, Nathan
In the absence of intellectual impairment, girls are diagnosed with autism spectrum disorder significantly less and later than boys. This study explored potential reasons for why autism spectrum disorder may be more difficult to identify in girls, based on carer concerns during the pre-diagnosis period. Carers of 92 boys and 60 girls diagnosed…
Rogers, Claire L.; Goddard, Lorna; Hill, Elisabeth L.; Henry, Lucy A.; Crane, Laura
To date, research exploring experiences of diagnosing autism spectrum disorder has largely focused on parental perspectives. In order to obtain a more complete account of the autism spectrum disorder diagnostic process, it is essential that the views and experiences of professionals are heard. In this study, 116 multidisciplinary professionals…
Jakobsen, Klaus Damgaard; Hansen, Thomas Folkmann; Dam, Henrik
Background and Objectives: Diagnostic reliability is of major concern both to clinicians and researchers. The aim has been to investigate the trustworthiness of clinical ICD-10 affective disorder diagnoses for research purpose. Methods: 150 ECT patients with chronic affective disorders were inves...
Mouridsen, S.E.; Rich, B.; Isager, T.
The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish...
Mouridsen, Svend Erik; Rich, Bente; Isager, Torben
The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish...
South, M.; Stephenson, K. G.; Nielson, C. A.; Maisel, M.; Top, D. N.; Kirwan, C. B.
Bowler et al. ("Journal of Autism and Developmental Disorders" 44(9):2355-2362. doi:10.1007/s10803-014-2105-y, 2014) have suggested that a specific memory impairment in autism spectrum disorders (ASD) arises from hippocampal failure to consolidate multiple related pieces of information. Twenty-four adults diagnosed with ASD and matched…
Manning, Susan E; Davin, Carol A; Barfield, Wanda D; Kotelchuck, Milton; Clements, Karen; Diop, Hafsatou; Osbahr, Tracy; Smith, Lauren A
We examined trends in autism spectrum disorder diagnoses by age 36 months (early diagnoses) and identified characteristics associated with early diagnoses. Massachusetts birth certificate and early-intervention program data were linked to identify infants born between 2001 and 2005 who were enrolled in early intervention and receiving autism-related services before age 36 months (through December 31, 2008). Trends in early autism spectrum disorders were examined using Cochran-Armitage trend tests. χ² Statistics were used to compare distributions of selected characteristics for children with and without autism spectrum disorders. Multivariate logistic regression analyses were conducted to identify independent predictors of early diagnoses. A total of 3013 children (77.5 per 10,000 study population births) were enrolled in early intervention for autism spectrum disorder by age 36 months. Autism spectrum disorder incidence increased from 56 per 10,000 infants among the 2001 birth cohort to 93 per 10,000 infants in 2005. Infants of mothers younger than 24 years of age, whose primary language was not English or who were foreign-born had lower odds of an early autism spectrum disorder diagnosis. Maternal age older than 30 years was associated with increased odds of an early autism spectrum disorder diagnosis. Odds of early autism spectrum disorders were 4.5 (95% confidence interval: 4.1-5.0) times higher for boys than girls. Early autism spectrum disorder diagnoses are increasing in Massachusetts, reflecting the national trend observed among older children. Linkage of early-intervention program data with population-based vital statistics is valuable for monitoring autism spectrum disorder trends and planning developmental and educational service needs.
Boon, Evelyn; Zainal, Kelly Ann; Touyz, Stephen W.
Background Despite the increasing number of patients presenting for treatment, little is still known about male eating disorders cases. The current study presents four male eating disorder cases presented to our specialized treatment facility in Singapore. Case presentation Cases 1, 2 and 3 are homosexual males in their twenties and thirties who presented with anorexia nervosa and bulimia nervosa. Case 4 is a heterosexual male in his twenties diagnosed with binge eating disorder. All four cas...
Full Text Available The number of diagnoses of Autism Spectrum Disorders (ASD is on the rise, which encourages the search for their causes spurs researchers to study co-occurrence of ASD with other diseases and disorders. This study aims at highlighting the importance of the clinical problem of autism spectrum disorders and its comorbidity with epilepsy. This is one of the most common co-morbidities happening to children.
Vannucci, Anna; Nelson, Eric E.; Bongiorno, Diana M.; Pine, Daniel S.; Yanovski, Jack A.; Tanofsky-Kraff, Marian
Background Pediatric loss-of-control eating is a robust behavioral precursor to binge-type eating disorders. Elucidating precursors to loss-of-control eating and binge-type eating disorders may refine developmental risk models of eating disorders and inform interventions. Method We review evidence within constructs of the Negative Valence Systems (NVS)-domain, as specified by the Research Domain Criteria framework. Based on published studies, we propose an integrated NVS model of binge-type eating disorder risk. Results Data implicate altered corticolimbic functioning, neuroendocrine dysregulation, and self-reported negative affect as possible risk-factors. However, neuroimaging and physiological data in children and adolescents are sparse, and most prospective studies are limited to self-report measures. Conclusions We discuss a broad NVS framework for conceptualizing early risk for binge-type eating disorders. Future neural and behavioral research on the developmental trajectory of loss-of-control and binge-type eating disorders is required. PMID:26040923
Boon, Evelyn; Zainal, Kelly Ann; Touyz, Stephen W
Despite the increasing number of patients presenting for treatment, little is still known about male eating disorders cases. The current study presents four male eating disorder cases presented to our specialized treatment facility in Singapore. Cases 1, 2 and 3 are homosexual males in their twenties and thirties who presented with anorexia nervosa and bulimia nervosa. Case 4 is a heterosexual male in his twenties diagnosed with binge eating disorder. All four cases expressed body image dissatisfaction, fat phobia and fear of weight gain. Additionally, all of them sought treatment because of comorbid psychiatric conditions or parental wishes. Premorbid obesity and homosexual orientation may be potential risk factors for males in developing eating disorders. These findings suggest that more exploration needs to be done for males diagnosed with eating disorders, particularly in the Asian society. A deeper understanding into factors associated with symptom presentation and treatment-seeking behaviors would greatly assist in informing the direction and focus of treatment in the region.
Sollis, E; Graham, S.A.; Vino, A.; Froehlich, H.; Vreeburg, M.; Dimitropoulou, D.; Gilissen, C.; Pfundt, R.; Rappold, G.A.; Brunner, H.G; Deriziotis, P.; Fisher, S.E.
De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global
Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications m...
Hu, Chen; Xiang, Yu-Tao; Wang, Gang; Ungvari, Gabor S; Dickerson, Faith B; Kilbourne, Amy M; Lai, Kelly Y C; Si, Tian-Mei; 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; Chiu, Helen F K
Bipolar disorder (BD) is often misdiagnosed as a major depressive disorder (MDD). This study aimed to test the usefulness of the screening tool, the Mood Disorders Questionnaire (MDQ), to identify BD patients misdiagnosed as MDD in Chinese clinical settings. A total of 1487 patients treated for MDD 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. The MDQ was completed by patients to identify symptoms characteristic of BD. DSM-IV diagnoses were established using the Mini International Neuropsychiatric Interview (MINI). Three hundred-nine of the 1487 patients (20.8%) satisfied DSM-IV criteria for BD; 118 (7.9%) for BD-I and 191 (12.8%) for BD-II on the MINI. The optimal cut-off point on the MDQ to differentiate BD from MDD was 3, while cut-off points of 5 and 3 differentiated BD-I and BD-II from MDD, respectively. The maximum sensitivity was 0.31, 0.45 and 0.22 for differentiating BD, BD-I and BD-II from MDD, respectively. The optimal cutoff points of the MDQ for screening BD in Chinese patients originally diagnosed as MDD were considerably lower than those in earlier studies. The routine clinical use of the MDQ as a screening scale for BD in Chinese patients treated for MDD does not seem to be justified. Copyright © 2012. Published by Elsevier B.V.
Lakes, Kimberley D; Abdullah, Maryam M; Youssef, Julie; Donnelly, Joseph H; Taylor-Lucas, Candice; Goldberg, Wendy A; Cooper, Dan; Aizik, Shlomit
The purpose of this study was to examine a new tool (PPPAS = Parent Perceptions of Physical Activity Scale-Preschool) developed to study parental perceptions of physical activity (PA) among parents of toddler and preschool age children. 143 children (mean age 31.65 months; 75% male) and their parents were recruited from a neurodevelopmental clinic. Parents completed questionnaires, and both a psychologist and a physician evaluated the children. Eighty-three percent of the children received a diagnosis of Autism Spectrum Disorder; 20% of the children had a BMI > 85th percentile. Analyses were conducted to evaluate the reliability, concurrent validity, discriminant validity, and predictive validity of PPPAS scores. Results supported a two-factor structure: Perceptions of the Benefits of PA and the Barriers to PA. The internal consistency of scores was good for both PPPAS subscales, derived from the two factors. Parent perceptions of barriers to PA were significantly correlated with delays in overall adaptive functioning, daily living skills, socialization, and motor skills. When a child's motor skills were delayed, parents were less likely to believe PA was beneficial and perceived more barriers to PA. Parent perceptions of barriers to PA predicted parent-reported weekly unstructured PA and ratings of how physically active their child was compared with other children. We present the PPPAS-Preschool for use in pediatric exercise research and discuss potential applications for the study of parent perceptions of PA in young children.
Bojović, Katarina; Stanković, Biljana; Kotur, Nikola; Krstić-Milošević, Dijana; Gašić, Vladimir; Pavlović, Sonja; Zukić, Branka; Ignjatović, Đurđica
Gastrointestinal disturbances, nutritional deficiencies, and food intolerances are frequently observed in children with neurodevelopmental disorders (NDD). To reveal possible association of celiac disease risk variants (HLA-DQ), lactose intolerance associated variant (LCT-13910C>T) as well as variant associated with vitamin D function (VDR FokI) with NDD, polymerase chain reaction-based methodology was used. Additionally, intestinal peptide permeability was estimated in NDD patients and healthy children by measuring the level of peptides in urine using high-performance liquid chromatography. Levels of opioid peptides, casomorphin 8, and gluten exorphin C were significantly elevated in urine samples of NDD patients (P = 0.004 and P = 0.005, respectively), but no association of genetic risk variants for celiac disease and lactose intolerance with NDD was found. Our results indicate that increased intestinal peptide permeability observed in analyzed NDD patients is not associated with genetic predictors of celiac disease or lactose intolerance. We have also found that FF genotype of VDR FokI and lower serum levels of vitamin D (25-OH) showed association with childhood autism (CHA), a subgroup of NDD. We hypothesize that vitamin D might be important for the development of CHA.
Carnahan, Ryan M; Letuchy, Elena M
Nursing home quality measures include the proportion of residents who receive antipsychotics. Residents with bipolar disorder are included even though antipsychotics are FDA-approved for this indication. We evaluated how including residents with bipolar disorder impacted the antipsychotic use quality measure for long-stay residents. We evaluated the agreement of minimum data set (MDS) bipolar disorder diagnoses with Medicare data, whether dementia was diagnosed before bipolar disorder, and how less-specific bipolar disorder diagnoses impacted findings. Cross-sectional study. Nursing homes in Iowa. 21,955 long-stay nursing home residents in the first quarter of 2014. We identified antipsychotic use and bipolar disorder using MDS data. We compared MDS bipolar disorder diagnoses with Chronic Conditions Warehouse (CCW) "ever" bipolar disorder indicators, and prior year claims. We compared CCW condition onset dates to identify bipolar disorder diagnosed after dementia. The mean (SD) proportion receiving antipsychotics was 19.6% (11.1%) with bipolar disorder and 18.3% (10.8%) without. The positive predictive value (PPV) of MDS bipolar disorder diagnoses was 80.2% versus CCW lifetime indicators, and 74.6% versus claims. PPV decreased by 27.1% when "bipolar disorder, unspecified" and "other bipolar disorders" diagnoses were excluded. Nearly three-quarters of residents with bipolar disorder had dementia. Over half of those with dementia had dementia first per CCW records. This proportion was lower among those with more specific bipolar disorder diagnoses or MDS bipolar disorder indicators. Bipolar disorder in nursing home residents is often first diagnosed after dementia using nonspecific diagnoses. This practice deserves further evaluation. Copyright © 2017 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.
Caroline A. Bonham
Full Text Available Background. Anxiety disorders are associated with considerable disability in the domains of (1 work, (2 social, and (3 family and home interactions. Psychiatric comorbidity is also known to be associated with disability. Methods. Data from the Cross-National Collaborative Panic Study was used to identify rates of comorbid diagnoses, anxiety and depression symptom ratings, and Sheehan disability scale ratings from a clinical sample of 1165 adults with panic disorder. Results. Comorbid diagnoses of agoraphobia, major depression, and social phobia were associated with disability across the three domains of work, social, and family and home interactions. The symptom of agoraphobic avoidance makes the largest contribution to disability but there is no single symptom cluster that entirely predicts impairment and disability. Limitations. The findings about the relative contributions that comorbid diagnoses make to disability only apply to a population with panic disorder. Conclusions. Although panic disorder is not generally considered to be among the serious and persistent mental illnesses, when it is comorbid with other diagnoses, it is associated with considerable impairment. In particular, the presence of agoraphobic avoidance should alert the clinician to the likelihood of important functional impairment. When measuring the functional impact of comorbid anxiety disorders, both the categorical and the dimensional approaches to diagnosis make valuable contributions.
Ronca, April E.
Intrauterine complications have been implicated in the etiology of neuripsychiatric disorders including schizophrenia, autism and ADHD. This presentation will describe new translational studies derived from in vivo magnetic resonance imaging of developing and adult brain following perinatal asphyxia (PA). Our findings reveal significant effects of PA on neurometabolic profiles at one week of age, and significant relationships between early metabolites and later life phenotypes including behavior and brain morphometry
Ballendine, Stephanie A; Greba, Quentin; Dawicki, Wojciech; Zhang, Xiaobei; Gordon, John R; Howland, John G
Research suggests that maternal immune activation (MIA) during pregnancy increases the risk of neurodevelopmental disorders including schizophrenia and autism in the offspring. Current theories suggest that inflammatory mediators including cytokines and chemokines may underlie the increased risk of these disorders in humans. For example, elevated maternal interleukin-8 (IL-8) during pregnancy is associated with increased risk of schizophrenia in the offspring. Given this association, the present experiments examined ELR-CXC chemokines CXCL1 and CXCL2, rodent homologues of human IL-8, and activation of their receptors (CXCR1 and CXCR2) in an established rodent model of MIA. Pregnant Long Evans rats were treated with the viral mimetic polyinosinic-polycytidylic acid (polyI:C; 4 mg/kg, i.v.) on gestational day 15. Protein analysis using multiplex assays and ELISA showed that polyI:C significantly increased maternal serum concentrations of interleukin-1β, tumor necrosis factor, and CXCL1 3h after administration. Subsequent experiments tested the role of elevated maternal CXCL1 on behavior of the offspring by administering a CXCR1/CXCR2 antagonist (G31P; 500 μg/kg, i.p.; 1h before, 48 and 96 h after polyI:C treatment). The male offspring of dams treated with polyI:C demonstrated subtle impairments in prepulse inhibition (PPI), impaired associative and crossmodal recognition memory, and altered behavioral flexibility in an operant test battery. While G31P did not completely reverse the behavioral impairments caused by polyI:C, it enhanced PPI during adolescence and strategy set-shifting and reversal learning during young adulthood. These results suggest that while polyI:C treatment significantly increases maternal CXCL1, elevations of this chemokine are not solely responsible for the effects of polyI:C on the behavior of the offspring. Copyright © 2014 Elsevier Inc. All rights reserved.
Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair
SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
AKINCI, Gökay; Polat, Ediz; Koçak, Orhan Murat
Eye pupil detection systems have become increasingly popular in image processing and computer vision applications in medical systems. In this study, a video-based eye pupil detection system is developed for diagnosing bipolar disorder. Bipolar disorder is a condition in which people experience changes in cognitive processes and abilities, including reduced attentional and executive capabilities and impaired memory. In order to detect these abnormal behaviors, a number of neuropsychologi...
Leaf, Justin B.; Leaf, Jeremy A.; Milne, Christine; Taubman, Mitchell; Oppenheim-Leaf, Misty; Torres, Norma; Townley-Cochran, Donna; Leaf, Ronald; McEachin, John; Yoder, Paul
In this study we evaluated a social skills group which employed a progressive applied behavior analysis model for individuals diagnosed with autism spectrum disorder. A randomized control trial was utilized; eight participants were randomly assigned to a treatment group and seven participants were randomly assigned to a waitlist control group. The…
This study used exploratory data analysis (EDA) to examine the use of a biofeedback intervention in the treatment of anxiety for college students diagnosed with an Autism Spectrum Disorder (ASD) (n = 10) and in a typical college population (n = 37). The use of EDA allowed for trends to emerge from the data and provided a foundation for future…
Fernandes, Lucrecia Cabral; Gillberg, Carina I.; Cederlund, Mats; Hagberg, Bibbi; Gillberg, Christopher; Billstedt, Eva
The literature concerning sexuality in autism spectrum disorders (ASDs) is limited regarding inappropriate sexual behaviours and paraphilias and its relation to age, verbal ability, symptom severity, intellectual ability, or adaptive functioning. A cohort of 184 adolescents and young adults (ages 15-39 years) with ASD diagnosed in childhood,…
Hupp, Stephen D. A.; Reitman, David
Reports on a multi-component skills and behavior management program for children diagnosed with Attention-Deficit/Hyperactivity Disorder developed in the context of a sports-skills camp. The first component, which studied the efficacy of basketball skills, resulted in decreased dribbling errors. A second component, which implemented a token system…
Ryser, Gail R.; Campbell, Hilary L.; Miller, Brian K.
The diagnostic criteria for attention deficit hyperactivity disorder have evolved over time with current versions of the "Diagnostic and Statistical Manual", (4th edition), text revision, ("DSM-IV-TR") suggesting that two constellations of symptoms may be present alone or in combination. The SCALES instrument for diagnosing attention deficit…
Schwitzer, Alan M.
This article presents research and evidence-based practices for identifying, understanding, diagnosing, conceptualizing, and providing a continuum of treatment for the most commonly experienced types of eating-related counseling concerns--namely, eating disorders not otherwise specified--among the population most likely to present these types of…
Haubold, Alexander; Peterson, Bradley S.; Bansal, Ravi
Brain morphometry in recent decades has increased our understanding of the neural bases of psychiatric disorders by localizing anatomical disturbances to specific nuclei and subnuclei of the brain. At least some of these disturbances precede the overt expression of clinical symptoms and possibly are endophenotypes that could be used to diagnose an…
Ngazimbi, Evadne E.; Lambie, Glenn W.; Shillingford, M. Ann
Clients diagnosed with bipolar disorder often suffer from mood instability, and research suggests that these clients need both counseling services and pharmacotherapy. Narrative therapy is a social constructionist approach grounded on the premise that there is no single "truth"; individuals may create new meanings and retell their stories to…
McFarland, Dennis J.; Cacace, Anthony T.
This paper examines the case for modality specificity as a criterion for improving the specificity of diagnosing central auditory processing disorders. Demonstrating the modality-specific nature of sensory processing deficits is seen as one way to rule out nonperceptual factors as explanations for observed dysfunction. (Author)
Ben-Porath, Denise D.
Therapists often struggle with managing intersession contact with clients diagnosed with borderline personality disorder, particularly when dangerous and life-threatening symptoms are communicated (Gunderson, 1996). Difficulties have arisen, in part, because previous phone contacts with this population have failed to recognize the importance of…
Cunningham, Natoshia Raishevich; Tran, Susan T; Lynch-Jordan, Anne M; Ting, Tracy V; Sil, Soumitri; Strotman, Daniel; Noll, Jennie G; Powers, Scott W; Arnold, Lesley M; Kashikar-Zuck, Susmita
Adolescents with juvenile-onset fibromyalgia (JFM) have increased rates of psychiatric disorders, but to our knowledge no studies have examined psychiatric disorders in adolescents with JFM when they enter young adulthood. This study examined the prevalence of psychiatric disorders in young adults diagnosed with JFM during adolescence and the relationship between mental health diagnoses and physical functioning. Ninety-one young adults (mean age 21.60, SD 1.96) with a history of JFM being followed as part of a prospective longitudinal study and 30 matched healthy controls (mean age 21.57, SD 1.55) completed a structured interview of psychiatric diagnoses and a self-report measure of physical impairment. Young adults with a history of JFM were more likely to have current and lifetime histories of anxiety disorders (70.3% and 76.9%, respectively) compared with controls (33.3% for both, both p < 0.001). Individuals with JFM were also more likely to have current and lifetime histories of major mood disorders (29.7% and 76.9%, respectively) compared with controls (10% and 40%, p < 0.05). The presence of a current major mood disorder was significantly related to impairment in physical functioning [F (1, 89) = 8.30, p < 0.01] and role limitations attributable to a physical condition [F (1, 89) = 7.09, p < 0.01]. Psychiatric disorders are prevalent in young adulthood for individuals with a history of JFM, and a current major mood disorder is associated with greater physical impairment. Greater attention to early identification and treatment of mood disorders in patients with JFM is warranted.
Whitehouse, Andrew J O; Cooper, Matthew N; Bebbington, Keely; Alvares, Gail; Lin, Ashleigh; Wray, John; Glasson, Emma J
The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme). Linear regression determined there was a statistically significant reduction from 2000 to 2006 in the percentage of new diagnoses meeting two of 12 criteria. There was also a reduction across the study period in the proportion of new cases rated as having extreme severity on six criteria. There was a reduction in the proportion of individuals with three or more criteria rated as extreme from 2000 (16.0%) to 2006 (1.6%), while percentage of new cases with no "extreme" rating on any criteria increased from 58.5% to 86.6% across the same period. This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria. A shift toward diagnosing individuals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses. Autism Res 2017, 10: 179-187. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Durkin, Nora E; Swanson, Sonja A; Crow, Scott J; Mitchell, James; Peterson, Carol B; Crosby, Ross
Chewing and spitting (CS) out food is a relatively understudied eating disorder behavior. The aim of this study was to examine lifetime and current frequencies of CS across eating disorder diagnostic groups and to compare the severity of eating disorder symptomatology between participants who did and did not endorse CS. A total of 972 individuals presenting for outpatient eating disorder treatment between 1985 and 1996 completed a questionnaire that included items regarding current and lifetime eating disorder behaviors, including CS. Results indicated that both lifetime and current prevalence estimates of CS varied cross-diagnostically, with CS being more common among those with anorexia nervosa and bulimia nervosa compared to those with eating disorder not otherwise specified. CS was significantly associated with several eating disorder symptoms, including compensatory behaviors, meal restriction, and lower BMI. Those who reported CS were also younger in age compared to those who did not report CS. These findings indicate that CS is associated with more severe eating and weight pathology and is not equally prevalent across eating disorder diagnoses. These results also support the relatively high occurrence of CS and the importance of targeting this behavior in eating disorder treatment. Future research should clarify the correlates, mechanisms, and function of CS in eating disorders.
Mouridsen, S.E.; Rich, B.; Isager, T.
The prevalence and types of psychiatric disorders were studied in a clinical sample of 89 individuals with atypical autism (AA) first seen as children, and 258 matched controls from the general population using data from the nationwide Danish Psychiatric Central Register. The average observation...... time was 36.9 years, and mean age at follow-up 45.3 years. A total of 61 persons with AA (68.5%) had been in contact with psychiatric hospitals during the follow-up period, compared with 10.9% in the comparison group. A whole range of significantly elevated psychiatric disorders was found, so AA...... is not seen to be associated with any specific mental disorder. Schizophrenia spectrum disorders were the most commonly associated psychiatric disorders, diagnosed at least one time in 34.8% of the AA cases. Our findings underscore that it is important for clinicians working in adult psychiatric services...
Anthony R Isles
Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of
Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally
Burgess, Bertilee; Curtis-Downes, Desdemona; Gibson, Roger C
Comparisons between persons with bipolar disorder and those with schizophrenia are not well researched in the Caribbean. To compare the educational and occupational attainments in Jamaicans diagnosed with these two disorders. Data on diagnosis, educational level, type of employment and other basic socio-demographic variables were collected from Jamaican hospital patients who were newly diagnosed with schizophrenia or bipolar disorder. Fisher's exact and χ2 tests, as well as binary logistic regression, were used to explore how these characteristics varied according to diagnosis. Statistical significance was taken at p educational attainment than bipolar disorder (p = .022 for educational level attained; p = .026 for completion of secondary school). The majority (87.1%) of the 93 patients included in the analysis had no specific marketable job skills. However, the proportion of persons with bipolar disorder who had such skills was three times the corresponding proportion of persons with schizophrenia. The low educational achievement among persons with schizophrenia makes education a potentially important area for interventions targeted at this group. Because gross deficiencies in job skills were common to both patient groups, improvement in job skill levels is an important goal for persons with either of these disorders.
Mahat-Shamir, Michal; Ring, Lia; Hamama-Raz, Yaira; Ben-Ezra, Menachem; Pitcho-Prelorentzos, Shani; David, Udi Y; Zaken, Adi; Lavenda, Osnat
The minority of people who have experienced a traumatic event and were diagnosed as either suffering from PTSD or from Adjustment disorder, may suggest that victims of a traumatic event vary in risk factors for the disorders. The current research aimed at examining the association between reports of Adjustment disorder and PTSD symptoms (In accordance with the proposed revisions of the ICD-11) and several vulnerability variables: previous traumatic event, previous stressful event and physical proximity to the terror attack. Using an online survey, 379 adult participants were recruited, and filled out Adjustment disorder, PTSD symptomatology scales, as well as a previous exposure, magnitude of exposure and death anxiety scales. Findings revealed that previous experience of traumatic events was a significant predictor associated with both PTSD and Adjustment disorder symptoms. Previous experience of stressful events was a significant predictor associated with Adjustment disorder alone. Physical proximity to the site of the attack was a significant predictor associated with PTSD symptoms but not Adjustment disorder symptoms. The importance of previous traumatic events, previous stressful events and physical proximity to the terror attack as factors which are associated with Adjustment disorder and PTSD symptomatology is discussed. Copyright © 2017 Elsevier B.V. All rights reserved.
Mazlum, Betül; Anlar, Banu; Kalkanoğlu-Sivri, H Serap; Karlı-Oğuz, Kader; Özusta, Şeniz; Ünal, Fatih
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequently diagnosed with phenylketonuria. This case illustrates that because the majority of autism cases are idiopathic, an occasional patient with a metabolic disorder might be overlooked especially in the era of newborn screening. We also discuss the possible pathogenetic processes leading to autistic symptoms in phenylketonuria, and wish to draw attention to the possibility of cases missed in the screening program because of less than 100% coverage or insufficient food intake before blood sampling. Clinicians should keep in mind the possibility of treatable disorders in children with autism even when such disorders appear unlikely.
Gradus, Jaimie L; Qin, Ping; Lincoln, Alisa K
is associated with suicidal ideation and suicide attempt. However the association between adjustment disorder and completed suicide has yet to be examined. The current study is a population-based case control study examining this association in the population of Denmark aged 15 to 90 years. All suicides...... in Denmark from 1994 to 2006 were included, resulting in 9,612 cases. For each case, up to 30 controls were matched on gender, exact date of birth, and calendar time, yielding 199,306 controls. Adjustment disorder diagnosis was found in 7.6% of suicide cases and 0.52% of controls. Conditional logistic...... regression analyses revealed that those diagnosed with adjustment disorder had 12 times the rate of suicide as those without an adjustment disorder diagnosis, after controlling for history of depression diagnosis, marital status, income, and the matched factors....
Elrod, Marilisa G; Nylund, Cade M; Susi, Apryl L; Gorman, Gregory H; Hisle-Gorman, Elizabeth; Rogers, Derek J; Erdie-Lalena, Christine
Sleep disorders are common and important comorbid conditions in children with autism spectrum disorder (ASD) and can contribute to cognitive and behavioral problems. Sleep-disordered breathing (SDB) is a diagnosable and treatable cause of behavioral problems in children. We aimed to quantify the relative risk for children with ASD versus controls of being diagnosed with sleep disorders including SDB and undergoing related diagnostic and surgical procedures. This retrospective case-cohort study included 48,762 children with ASD aged 2 to 18 years enrolled in the military health system (MHS) from 2000 to 2013. Children with ASD were matched 1:5 by birthdate, sex, and enrollment time to children without an ASD diagnosis. The MHS database was queried for International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for sleep disorders or ICD-9-CM and Current Procedural Terminology codes for diagnostic and surgical procedures. Relative risks (RR) and 95% confidence intervals (CI) were determined with binary Poisson regression conditional on the match and adjusting for confounders. Children with ASD were at higher risk of receiving any sleep disorder diagnosis (RR: 1.97 [95% CI, 1.91-2.02]) including SDB (RR: 1.96 [95% CI, 1.88-2.05]). Children with ASD also were at increased risk of undergoing polysomnography (RR: 3.74 [95% CI, 3.56-3.93]) and sleep disorder-related surgery (RR: 1.50 [95% CI, 1.46-1.54]). Children with ASD are more likely to be given a sleep disorder diagnosis including SDB and are more likely to undergo related diagnostic and surgical procedures compared with controls without ASD.
Baltaxe, Christiane A. M.; And Others
This study compared high functioning adolescents and young adults with autism (n=8) or schizotypal personality disorder (n=9) in use of social language referencing. Both groups had similar rates, types, and patterns of cohesive reference errors, though subjects with schizotypal disorder used cohesive ties of reference more often and more correctly…
Kinley, D Jolene; Lowry, Helen; Katz, Cara; Jacobi, Frank; Jassal, Davinder S; Sareen, Jitender
There has been increasing interest in the relationship between cardiac and metabolic conditions with mental illness. Many studies have found associations between these conditions and depression but results with anxiety disorders have been mixed. We explore these relationships in a nationally representative survey using physician diagnoses of physical conditions and DSM-IV psychiatric disorders. Data came from the nationally representative German Health Survey (N=4181, age 18-65). Physician diagnoses of angina, myocardial infarction, congestive heart, hypertension, dyslipidemia, diabetes, and obesity were examined in relation to depression and anxiety disorders, which were assessed through a modified version of the Composite International Diagnostic Interview. Multiple logistic regression analyses were used to examine the associations between these conditions. After adjusting for sociodemographics, psychiatric comorbidity, and substance use, having an anxiety disorder was associated with increased odds of cardiac conditions and metabolic risk factors with odds ratios ranging from 1.3 to 3.3. Depression was not associated with any of the conditions but was associated with poor medical compliance for health conditions on two outcomes measured. Anxiety was also associated with reduced medical compliance for one health behaviour measured. Anxiety disorders, but not depression, were associated with metabolic and cardiac conditions in our sample. Both conditions were related to some aspects of poor self-care for health conditions and therefore may be linked to negative outcomes. Copyright © 2015 Elsevier Inc. All rights reserved.
Tondo, L; Lepri, B; Baldessarini, R J
Disability varies in patients with major affective disorders [type I and II bipolar disorders (BPD) and recurrent unipolar major depressive disorder (UP-MDD)]. It may include reproductive functioning, which has rarely been studied systematically. We compared information acquired over several years pertaining to marital/reproductive status among 1975 systematically evaluated, treated, and followed women (n = 1351) and men (n = 624) diagnosed with DSM-IV type I (n = 300) or II BPD (n = 223), or MDD (n = 1452). We compared factors between patients with vs. without children and associated with fertility rate (children/fertile years × 100), using standard bivariate methods followed by multivariate modeling. Childless patients were younger at illness onset, more likely men, diagnosed with type I BPD, more educated, and unmarried, but similar in many aspects of clinical history to those with children. Fertility rate ranked: BP-I women. Mood-disorder patients had 17% fewer children/person than in the comparable general population of Sardinia. Among mood-disorder patients, fertility appeared to decline in Sardinia in recent decades, more in men than women. Type I BPD was associated with lower fertility than BP-II or UP-MDD, consistent with their relatively high levels of other disabilities. © 2011 John Wiley & Sons A/S.
Moriwaki, Hiroto; Uchida, Akira; Chiba, Sachiko; Moriyama, Hiroshi [Jikei Univ., Tokyo (Japan). School of Medicine; Chiba, Shintarou; Yagi, Asako; Ohta, Masaji [Ohta General Hospital, Kawasaki, Kanagawa (Japan); Tokunaga, Masakazu [Kanagawa Prefecture Midwives and Nurses Training School (Japan). Hospital
Polysomnography is useful for assessing the severity of sleep breathing disorder, including obstructive sleep apnea hypopnea syndrome. The clinical condition is difficult to understand completely, however, based on the apnea hypopnea index (AHI) alone, however, and longitudinal change of shape in the upper airway must be clarified. Most diagnoses of obstructive sites in the upper airway were diagnosed statically, so we attempted to assess changes in upper airway shape using dynamic magnetic resonance imaging (MRI), emphasizing the movement of tongue and lower chin, to analyze the relationship between AHI. Subjects were 62 patients with sleep breathing disorder examined by nocturnal polysomnography and dynamic MRI, assessing the change of shape in the upper airway. We concluded that: the group whose rotation angle of the tongue exceeded 6 deg and that the group whose distance of lower chin movement was longer during sleep than while awake were severe cases. (author)
Meade, Christina S
Persons dually diagnosed with severe mental illness (SMI) and substance use disorder (SUD) have disproportionately high rates of HIV and other sexually transmitted infections (STIs). This study examined the relationship between multiple sexual risk behaviors among persons with active, remitted, and no SUD. Participants were 152 adults with SMI recruited from multiple treatment sites. A structured interview assessed the participants' psychiatric, psychosocial, and behavioral factors. Rates of sexual risk behavior in the past 3 months were high and differed across the SUD groups. Multivariate logistic regression models found that lifetime SUD predicted sexual activity and partner-related risk whereas active substance abuse predicted condom-related risk. The results also support indirect effects of interpersonal and psychiatric factors (e.g., romantic partnership and psychotic disorder). Findings underscore the need for integrated HIV/STI prevention interventions targeting dually diagnosed patients.
Dykens, Elisabeth M.; Roof, Elizabeth; Hunt-Hawkins, Hailee; Dankner, Nathan; Lee, Evon B; Shivers, Carolyn M.; Daniell, Christopher; Kim, Soo-Jeong
Abstract Background A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention...
Fejzo, Marlena S; Magtira, Aromalyn; Schoenberg, Frederic Paik; Macgibbon, Kimber; Mullin, Patrick M
The purpose of this study is to determine the frequency of emotional, behavioral, and learning disorders in children exposed in utero to hyperemesis gravidarum (HG) and to identify prognostic factors for these disorders. Neurodevelopmental outcomes of 312 children from 203 mothers with HG were compared to neurodevelopmental outcomes from 169 children from 89 unaffected mothers. Then the clinical profiles of patients with HG and a normal child outcome were compared to the clinical profiles of patients with HG and a child with neurodevelopmental delay to identify prognostic factors. Binary responses were analyzed using either a Chi-square or Fisher Exact test and continuous responses were analyzed using a t-test. Children exposed in utero to HG have a 3.28-fold increase in odds of a neurodevelopmental diagnosis including attention disorders, learning delay, sensory disorders, and speech and language delay (Ppregnancies, only early onset of symptoms (prior to 5 weeks gestation) was significantly linked to neurodevelopmental delay. We found no evidence for increased risk of 13 emotional, behavioral, and learning disorders, including autism, intellectual impairment, and obsessive-compulsive disorder. However, the study was not sufficiently powered to detect rare conditions. Medications, treatments, and preterm birth were not associated with an increased risk for neurodevelopmental delay. Women with HG are at a significantly increased risk of having a child with neurodevelopmental delay. Common antiemetic treatments were not linked to neurodevelopmental delay, but early symptoms may play a role. There is an urgent need to address whether aggressive treatment that includes vitamin and nutrient supplementation in women with early symptoms of severe nausea of pregnancy decreases the risk of neurodevelopmental delay. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Traylor, Jessica; Chandrasekaran, Suchitra; Limaye, Meghana; Srinivas, Sindhu; Durnwald, Celeste P
The objective of this study is to evaluate a woman's risk perception for future cardiovascular disease (CVD) after being diagnosed with a hypertensive disorder of pregnancy. A prospective cohort of women diagnosed with a hypertensive disorder of pregnancy (HDP) was studied. Each woman completed two surveys, one prior to hospital discharge and one 2 weeks later, designed to assess knowledge of and risk perception for future CVD based on their recent diagnosis of a HDP. Rates of postpartum depression were also assessed. Of the 146 subjects included, 28% were diagnosed with preeclampsia with severe features, 52.1% with preeclampsia with mild features, and 19.9% had chronic hypertension. Women with severe features and those delivering preterm were more likely to report a perception of increased risk of both recurrent HDP in a future pregnancy (p = 0.004 and 0.005, respectively) and hypertension later in life (p = 0.01 and 0.03, respectively). Women delivering preterm were more likely to report an accurate perception of increased risk of myocardial infarction and stroke compared to those delivering at term (p = 0.006 and 0.002, respectively). Disease severity and preterm delivery were associated with a higher likelihood of the perception of an increased risk for both recurrent HDP and hypertension in the future. Only preterm delivery was associated with a higher risk perception for stroke and myocardial infarction. Interventions targeted at improved health awareness in women diagnosed with HDP are warranted.
Ung, Jennifer E; Dozier, Mary E; Bratiotis, Christiana; Ayers, Catherine R
The extant research on animal hoarding has a dearth of information on animal hoarding tendencies in adults diagnosed with hoarding disorder (HD). In the present study, we investigated possible recurrent animal hoarding behavioral and symptom patterns in individuals diagnosed with hoarding disorder. Hoarding severity scores from baseline assessments for 65 community-dwelling adults diagnosed with HD were analyzed with respect to their present and past animal ownership characteristics. Approximately half of participants reported currently owning pets, and pet owners in the sample reported currently owning an average of two pets. Of the participants who reported currently owning animals, 10% reported having no rules for their pets' behaviors, 51% reported having made at least one sacrifice for their pets, 54% reported having had at least one pet in childhood, and 29% reported that they believed they have a "special ability" to communicate with their pets. The results of the present study suggest that animal hoarding is not necessarily present in individuals diagnosed with HD. No significant associations of current pet ownership characteristics with present hoarding severity were observed. Reported maximum number of pets owned in childhood was significantly correlated with present object hoarding symptom severity. © 2016 Wiley Periodicals, Inc.
Jacob, P; Srinath, S; Girimaji, S; Seshadri, S; Sagar, J V
To assess the prevalence of neurodevelopmental and psychiatric co-morbidities in children and adolescents diagnosed with attention-deficit hyperactivity disorder at a tertiary care child and adolescent psychiatry centre. A total of 63 children and adolescents who were diagnosed with attention-deficit hyperactivity disorder and fulfilled the inclusion criteria were comprehensively assessed for neurodevelopmental and psychiatric co-morbidities. The tools used included the Mini-International Neuropsychiatric Interview for Children and Adolescents, Attention Deficit Hyperactivity Disorder Rating Scale IV (ADHD-RS), Children's Global Assessment Scale, Clinical Global Impression Scale, Vineland Social Maturity Scale, and Childhood Autism Rating Scale. All except 1 subject had neurodevelopmental and / or psychiatric disorder co-morbid with attention-deficit hyperactivity disorder; 66.7% had both neurodevelopmental and psychiatric disorders. Specific learning disability was the most common co-existing neurodevelopmental disorder and oppositional defiant disorder was the most common psychiatric co-morbidity. The mean baseline ADHD-RS scores were significantly higher in the group with psychiatric co-morbidities, especially in the group with oppositional defiant disorder. Co-morbidity is present at a very high frequency in clinic-referred children diagnosed with attention-deficit hyperactivity disorder. Psychiatric co-morbidity, specifically oppositional defiant disorder, has an impact on the severity of attention-deficit hyperactivity disorder. Co-morbidity needs to be explicitly looked for during evaluation and managed appropriately.
The move from "paraphilias" to "paraphilic disorders," where only the latter constitute mental disorders, has been hailed as a major change to the conception of non-normative sexualities in DSM-5. However, this is a claim that has been criticized by numerous activists and doctors working for removal of all diagnoses of so-called sexual disorders from the APA's manual. This article, written from a critical humanities, queer theory-inflected perspective, examines the historical and ideological grounds underlying the inclusion of the newly branded "paraphilic disorders" in DSM-5. It argues that the diagnosis does nothing to overturn the conservative and utilitarian view of sexuality as genitally oriented and for reproduction that has colored sexological and psychiatric history. It suggests that despite homosexuality no longer being classed as a disorder, an implicit heteronormativity continues to define psychiatric perceptions of sexuality. In sum, this article proposes that (1) the production of the field of psychiatric knowledge concerning "perversion"/"sexual deviation"/"paraphilia"/"paraphilic disorder" is more ideological than properly scientific; (2) the "normophilic" bias of the DSM is a bias in favor of heteronormativity and reproduction; and (3) some sexual practices are valued above others, regardless of claims that the presence of a paraphilic practice itself is no longer a criterion for a diagnosis of mental disorder.
Henry, Charles A; Nowinski, Lisa; Koesterer, Karmen; Ferrone, Christine; Spybrook, Jessaca; Bauman, Margaret
The purpose of this study was to investigate the prevalence of depression diagnoses and related clinical data in an outpatient sample of youth with autistic disorder. Records of 123 psychiatrically referred children and adolescents with a Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) diagnosis of autistic disorder were examined. Mood disorder diagnoses and chief complaints along with family mood disorder history were the primary variables analyzed. Four subjects (3%) presented with depressed mood. Irritability complaints were frequent (n=78, 63%). Six subjects (5%) received a mood disorder diagnosis; all with mood disorder, not otherwise specified. No subjects received a depressive disorder diagnosis. Family history of mood disorders was common. Findings raise questions about the appropriate characterization and potential misdiagnoses of depression in youth with autistic disorder.
Multilingualism poses unique psychiatric problems, especially in the field of child psychiatry. The author discusses several linguistic and transcultural issues in relation to Language Disorder, Specific Learning Disorder and Selective Mutism. Linguistic characteristics of multiple language development, including so-called profile effects and code-switching, need to be understood for differential diagnosis. It is also emphasized that Language Disorder in a bilingual person is not different or worse than that in a monolingual person. Second language proficiency, cultural background and transfer from the first language all need to be considered in an evaluation for Specific Learning Disorder. Selective Mutism has to be differentiated from the silent period observed in the normal successive bilingual development. The author concludes the review by remarking on some caveats around methods of language evaluation in a multilingual person.
Camacho, Ricardo; McCauley, Brandon; Szczech Moser, Christy
Over 70 years ago Dr. Karel Bobath and his wife Bertha Bobath began to craft the therapeutic intervention now known as neurodevelopmental treatment (NDT). This edition of Reviews, Tools, and Resources will highlight a historical review of research studies that have been completed, current websites, books, and blogs focusing on NDT.
Full Text Available Objectives: To examine longitudinal patterns of complexity, continuity, and initiation of treatment for youth diagnosed with bipolar disorder. Additionally, we explore bipolar diagnosis stability and its relationship to observed treatment patterns. Methods: A cohort of 426 privately-insured youth (ages 6-18 diagnosed with bipolar disorder was identified from the 2000-2001 Thomson/Medstat-MarketScan® database. Medication complexity was defined as number of different psychotropic medication classes dispensed during a 6-month period following a new treatment episode of bipolar disorder. Treatment continuity was examined over a 6-month follow-up period, specifically focusing on mood stabilizing medications and antidepressant monotherapy. Predictors of complexity and continuity were investigated. Results: 55% of youth received more than 1 and 25% received 3 or more different types of psychotropic medication classes during follow-up. This was contrasted with several youth having no prescription fills (21% and 31% discontinuing mood stabilizing medication. Youth with a stable bipolar diagnosis were more likely to have continuity of mood stabilizing prescriptions (OR: 4.05, but also greater psychotropic medication complexity. Age, health status/comorbidity, and being in a managed care plan were also related to complexity and continuity of psychotropic medication class regimens. Conclusions: More evidence is needed on the causal patterns leading to increased psychotropic medication complexity and continuity and how diagnosis of bipolar disorder may drive treatment patterns.
Cheng, Chihwen; Burns, T G; Wang, May D
Children diagnosed with cerebral palsy (CP) appear to be at high risk for developing neurobehavioral and motor disorders. The most common disorders for these children are impaired visual-perception skills and motor planning. Besides, they often have impaired executive functions, which can contribute to problematic emotional adjustment such as depression. Additionally, literature suggests that the tendency to develop these cognitive impairments and emotional abnormalities in pediatric CP is influenced by age and IQ. Because there are many other medical co-morbidities that can occur with CP (e.g., seizures and shunt placement), prediction of what percentages of patients will incur cognitive impairment and emotional abnormality is a difficult task. The purpose of this study was to investigate the associations between possible factors mentioned above, and neurobehavioral and motor disorders from a clinical database of pediatric subjects diagnosed with CP. The study resulted in 22 rules that can predict negative outcomes. These rules reinforced the growing body of literature supporting a link between CP, executive dysfunction, and subsequent neurobehavioral problems. The antecedents and consequents of some association rules were single factors, while other statistical associations were interactions of factor combinations. Further research is needed to include children's comprehensive treatment and medication history in order to determine additional impacts on their neurobehavioral and motor disorders.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
Blackburn, Patrick; Barnett, Sarah S.; Zimmermann, Michael T.; Cousin, Margot A.; Kaiwar, Charu; Pinto e Vairo,Filippo; Niu, Zhiyv; Ferber, Matthew J.; Urrutia, Raul A.; Selcen, Duygu; Eric W. Klee; Pichurin, Pavel N.
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, ...
Green, James A.; Barton, Marianne L.; Fein, Deborah
This study investigated the childhood autism rating scale (CARS) as a tool for ASD diagnoses for 2-year-old (n = 376) and 4-year-old (n = 230) children referred for possible autism. The cut-off score to distinguish autistic disorder from PDD-NOS was 32 in the 2-year-old sample (consistent with Lord in J Child Psychol Psychiatry Allied Discipl, 36, 1365–1382, 1995), and 30 in the 4-year-old sample, with good sensitivity and specificity at both ages. The cut-off score to distinguish ASD from non-ASD at both ages was 25.5, with good sensitivity and specificity. Results confirm the utility of the CARS in distinguishing autistic disorder from PDD-NOS, and distinguishing ASD from other developmental disorders and typical development and suggest that an ASD cutoff around 25, which is in common clinical use, is valid. PMID:20054630
Treloar, Amanda Jane Commons; Lewis, Andrew J.
This paper reviews the history of the recognition of borderline personality disorder as a clinical disorder, followed by a review of the contemporary practice of diagnosing borderline personality disorder in psychiatric settings. Many researchers have cautioned against the conflation of difficult patients with the diagnostic category of borderline…
Bonnington, Oliver; Rose, Diana
This study explores experiences of stigma and discrimination amongst people diagnosed with bipolar disorder (BD) or borderline personality disorder (BPD). Inspired by Margaret Archer's morphogenetic sequence and the ontological depth of critical realism, a temporal framework for stigmatisation, incorporating structure and agency, is developed and used to situate these experiences. A literature review found very little existing research on the subjective experience of stigma amongst these diagnostic groups. Indeed, most mental illness stigma research is quantitative and focussed on schizophrenia and depression. In-depth interviews were conducted with twenty-nine people diagnosed with BD or BPD, along with five 'friendship' mini-focus groups within the UK. Participants were recruited via charities and participant networking. Using thematic analysis, along with abductive and retroductive inference, experiences and anticipation of stigma and discrimination for participants with one of the two diagnoses in various contexts of social interaction were found to coincide with 'four faces' of oppression: cultural imperialism (pathologisation, normalisation and stereotyping), powerlessness, marginalisation and violence. Such experiences implied a range of antecedent social and cultural structures. Implications for the stigma concept are discussed. Copyright © 2014. Published by Elsevier Ltd.
Manouilenko, Irina; Humble, Mats B; Georgieva, Jeanette; Bejerot, Susanne
The aim of the present study was to examine the clinical utility of complex auditory brainstem response (c-ABR) and investigate if c-ABR is helpful in the diagnostic procedure. Thirty-one adult psychiatric patients, thoroughly diagnosed with autism spectrum disorder (ASD) (n=16), ADHD (n=8), or schizophrenia spectrum disorder (SSD) (n=7) and 15 healthy controls (HC), were blindly assessed with SensoDetect BERA. This c-ABR correctly identified psychiatric diagnoses in 4 patients (13%) and provided partially correct diagnoses in 11 more patients. Of the 15 HC, 6 were misclassified as psychiatric patients. The Cohen´s kappa coefficient (κ) was substantial for HC (κ=0.67), fair for SSD (κ=0.37), slight for ADHD (κ=0.09) and without agreement in ASD (κ=-0.03). In conclusion, we found the c-ABR method unhelpful and unreliable as a tool in clinical diagnostics. Copyright © 2017 Elsevier B.V. All rights reserved.
Brukner-Wertman, Yael; Laor, Nathaniel; Golan, Ofer
DSM-5 introduced two diagnoses describing neurodevelopmental deficits in social communication (SC); Autism Spectrum Disorder (ASD) and Social (Pragmatic) Communication Disorder (SPCD). These diagnoses are differentiated by Repetitive and Restricted Behaviors (RRB), required for an ASD diagnosis and absent in SPCD. We highlight the gaps between the…
Simms, Mark D; Jin, Xing Ming
• Based on strong research evidence (1), the prevalence of autism spectrum disorders (ASDs) has increased over the past decade, with a 2010 prevalence of 1:68 (1.5%) in children age 8 years. • Based on some research evidence as well as consensus (3), the most recent revision of the American Psychiatric Association's Diagnostic and Statistical Manual (DSM-V) identifies two core dimensions for the diagnosis of ASD: social (social communication and social interaction) and nonsocial (restricted, repetitive patterns of behaviors, interests, or activities). • Based on some research evidence as well as consensus (3) (31) (32) (33) (34), DSM-V identifies social pragmatic communication disorder (SPCD) as a dissociable dimension of language and communication ability that affects how individuals use language for social exchanges. SPCD is often found in children with language impairments and children with attention-deficit/hyperactivity disorder and other genetic/neurologic conditions. • Based on strong research evidence (2) (26) (27) (28), childhood language disorders affect 7.4% of kindergarteners, and 50% to 80% of these children experience persistent language, academic, and social-emotional difficulties into their adult years, despite having normal nonverbal cognitive abilities. • Based primarily on consensus due to lack of relevant clinical studies, differential diagnosis of autism and language disorders may require a multidisciplinary evaluation that takes into account a child’s overall development, including cognitive, communication, and social abilities. Monitoring the response to appropriate interventions and trajectory of development over time may improve the accuracy of diagnosis, especially in very young children.
Al-Khotani, Amal; Naimi-Akbar, Aron; Albadawi, Emad; Ernberg, Malin; Hedenberg-Magnusson, Britt; Christidis, Nikolaos
Studies have indicated that the prevalence of symptoms and signs of temporomandibular disorders (TMD) are rare early in childhood, but become more prevalent in adolescents and adulthood. To our knowledge, no study has investigated the prevalence of TMD-diagnoses in children in the general population. The aim was thus to investigate the prevalence of TMD-diagnoses among children and adolescents in the general population using the Research Diagnostic Criteria for TMD (RDC/TMD). The current cross-sectional study consisted of 456 children and adolescents, aged between 10 and 18, randomly enrolled from 10 boy's- and 10 girl's- schools in Jeddah. The participants first answered two validated questions about TMD-pain, followed by a clinical examination according to RDC/TMD. One hundred twenty-four participants (27.2 %) were diagnosed with at least one TMD-diagnosis. Myofascial pain was the most common diagnosis (15 %) followed by disc displacement with reduction, arthralgia, myofascial pain with limited mouth opening and osteoarthrosis. Children diagnosed with myofascial pain more often reported orofacial pain, headache and tooth clenching (p bruxism were associated with a TMD-pain diagnosis and disc displacement. A surprisingly low percentage of children and adolescents sought treatment by a dentist or physician for their pains.
Russell, Ginny; Golding, Jean; Norwich, Brahm; Emond, Alan; Ford, Tamsin; Steer, Colin
To compare social and behavioural outcomes between children formally diagnosed with autism spectrum disorders (ASD) with those of children who displayed autistic traits at preschool age, but remained undiagnosed as teenagers. A secondary analysis of data from a birth cohort study, the Avon Longitudinal Study of Parents and Children (N = 13,944), in SW England. Children clinically diagnosed with ASD were identified from their medical records (n = 71). A comparison group, who displayed autistic traits at age 3-4, but without ASD diagnosis were also identified (n = 142). Social and behavioural outcomes in adolescence were compared between the two groups. Children with ASD diagnoses were more impaired as teenagers that those in the comparison group on a range of measures of autistic-like behaviour. The developmental trajectory of prosocial behaviour showed that differences between the case and comparison groups increased dramatically in the preschool and early primary years, but that after 6 years the trajectories were similar. The divergence of the clinically diagnosed group and the nondiagnosed group in measures of autistic-like behaviour increased with age. This study provides evidence that it may be difficult to distinguish preschool age children who exhibit autistic-like symptoms but improve, from those who go on to develop lifelong impairment. © 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and Adolescent Mental Health.
U. A. Tsoy
Full Text Available Background: Obstructive sleep disordered breathing or obstructive sleep apnea (OSA is the most common respiratory impairment in acromegaly. OSA is bound up with heightened cardiovascular mortality. Aim: Тo study frequency, features, and structure of sleep disordered breathing in patients with newly diagnosed acromegaly and to elucidate the factors influencing their development. Materials and methods: 38 patients (10 men, 28 women, median age 53 (28-76 years, median body mass index (BMI 29 (19.9-44.3 kg/m² with newly diagnosed acromegaly were recruited into the study. All subjects underwent full polysomnography (Embla N7000, Natus, USA and Remlogica software (USA. Results: Sleep disordered breathing was found in 28 (73.7% patients. OSA was revealed in all cases, in 11 (39.3% subjects it was mixed. In 10 (35.7% patients OSA was mild, in 8 (28.6% moderate, and in 10 (35.7% severe. BMI (р<0.01, disease duration (р=0.003, and insulin-like growth factor-1 (IGF-1 level (р=0.04 were different in patients without OSA and patients with moderate-to-severe OSA. No difference was found in sex (р=0.4, age (р=0.064, and growth hormone level (р=0.6. Frequency of arterial hypertension, diabetes mellitus, and other glucose metabolism impairments was the same in subjects without OSA and with severe-to-moderate OSA. Conclusion: All patients with newly diagnosed acromegaly should undergo polysomnography. BMI, disease duration, and IGF-1 level are significant risk factors for OSA development. Correlation OSA with arterial hypertension and glucose metabolism impairments needs to be further investigated.
Mouridsen, Svend Erik; Rich, Bente; Isager, Torben
AIM: To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children. METHOD: In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals...... the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands. INTERPRETATION: Our findings suggest a potential indirect confirmation of the androgen theory of autism....
The National Highway Traffic Safety Administration sponsored a study to assess whether Attention Deficit Hyperactivity Disorder (ADHD) diagnosed during childhood would be a risk factor for poorer driving performance during early adulthood. This Traff...
Jóźwik, Jagoda; Kałużna-Czaplińska, Joanna
Currently, analysis of various human body fluids is one of the most essential and promising approaches to enable the discovery of biomarkers or pathophysiological mechanisms for disorders and diseases. Analysis of these fluids is challenging due to their complex composition and unique characteristics. Development of new analytical methods in this field has made it possible to analyze body fluids with higher selectivity, sensitivity, and precision. The composition and concentration of analytes in body fluids are most often determined by chromatography-based techniques. There is no doubt that proper use of knowledge that comes from a better understanding of the role of body fluids requires the cooperation of scientists of diverse specializations, including analytical chemists, biologists, and physicians. This article summarizes current knowledge about the application of different chromatographic methods in analyses of a wide range of compounds in human body fluids in order to diagnose certain diseases and disorders.
Boysen, Guy A; VanBergen, Alexandra
Dissociative Identity Disorder (DID) has long been surrounded by controversy due to disagreement about its etiology and the validity of its associated phenomena. Researchers have conducted studies comparing people diagnosed with DID and people simulating DID in order to better understand the disorder. The current research presents a systematic review of this DID simulation research. The literature consists of 20 studies and contains several replicated findings. Replicated differences between the groups include symptom presentation, identity presentation, and cognitive processing deficits. Replicated similarities between the groups include interidentity transfer of information as shown by measures of recall, recognition, and priming. Despite some consistent findings, this research literature is hindered by methodological flaws that reduce experimental validity. Copyright © 2013 Elsevier Ltd. All rights reserved.
Can, Ganime; Tanrıverdi, Derya
The aim of this descriptive study was to determine social functioning and internalized stigma in individuals with substance use disorder. The study sample consisted of 105 patients diagnosed with substance use disorder according to the DSM-IV-TR diagnostic criteria. A Descriptive Information Form, Internalized Stigma of Mental Illness Scale (ISMI) and Social Functioning Scale (SFS) were used for data collection. Average total SFS score of the patients was 103.25±25.09 points, indicating an intermediate level of social functioning. Average total ISMI score of patients was 2.92±0.48 points, reflecting a high level of internalized stigma. A negative significant association was observed between the internalized stigma levels and social functioning of patients. These results suggest that rehabilitation of substance users should include counseling services in order to reduce internal perception of stigma and improve their social functioning. Copyright © 2015 Elsevier Inc. All rights reserved.
Smith, Isaac C.; Reichow, Brian; Volkmar, Fred R.
A growing body of research has raised concerns about the number of individuals diagnosed with autism spectrum disorder (ASD) according to DSM-IV-TR who may no longer qualify for diagnoses under the new DSM-5 criteria, published in May 2013. The current study systematically reviews 25 articles evaluating samples according to both DSM-IV-TR and…
Herpers, P.C.; Klip, H.; Rommelse, N.N.J.; Greven, C.U.; Buitelaar, J.K.
Research regarding callous-unemotional (CU) traits in non-conduct disorder (CD) diagnoses is sparse. We investigated the presence of high CU traits and their associations with quality of life (QoL) in a clinically referred sample of youths with non-CD diagnoses. Parents of 1018 children referred to
Gallo, Kaitlin P.; Chan, Priscilla T.; Buzzella, Brian A.; Whitton, Sarah W.; Pincus, Donna B.
Previous research findings have shown positive effects of cognitive-behavioral therapy for primary anxiety disorders as well as for non-primary, co-occurring anxiety disorders. In this study, we analyzed data from an existing randomized controlled trial of intensive treatment for Panic Disorder with or without Agoraphobia (PDA) to examine the effects of the treatment on comorbid psychiatric diagnoses. The overall frequency and severity of aggregated comorbid diagnoses decreased in a group of adolescents who received an 8-day treatment for PDA. Results suggest that an 8-day treatment for PDA can alleviate the symptoms of some specific comorbid clinical diagnoses; specifically Specific Phobias, Generalized Anxiety Disorder, and Social Phobia. These findings suggest that an intensive treatment for PDA is associated with reductions in comorbid symptoms even though disorders other than PDA are not specific treatment targets. PMID:22304887
Gallo, Kaitlin P; Chan, Priscilla T; Buzzella, Brian A; Whitton, Sarah W; Pincus, Donna B
Previous research findings have shown positive effects of cognitive-behavioral therapy for primary anxiety disorders as well as for nonprimary, co-occurring anxiety disorders. In this study, we analyzed data from an existing randomized controlled trial of intensive treatment for panic disorder with or without agoraphobia (PDA) to examine the effects of the treatment on comorbid psychiatric diagnoses. The overall frequency and severity of aggregated comorbid diagnoses decreased in a group of adolescents who received an 8-day treatment for PDA. Results suggest that an 8-day treatment for PDA can alleviate the symptoms of some specific comorbid clinical diagnoses; in particular specific phobias, generalized anxiety disorder, and social phobia. These findings suggest that an intensive treatment for PDA is associated with reductions in comorbid symptoms even though disorders other than PDA are not specific treatment targets. Copyright © 2011. Published by Elsevier Ltd.
Andreou, Georgia; Trott, Kate
It has been increasingly believed that attention-deficit hyperactivity disorder (ADHD) is a disorder with lifelong course associated with cognitive difficulties including among others, language production, verbal learning, and verbal fluency. However, research is limited to children and adolescents, and very few researchers have examined the impact of ADHD in adulthood on the cognitive domain. The aim of the present study is to examine the performance of adults, diagnosed with ADHD in childhood, on semantic and phonemic verbal fluency tasks. It is hypothesized that adults with ADHD will perform worse on both tasks than matched controls. Sixty university students (30 diagnosed with ADHD in childhood and 30 matched controls) of mean age 20.5 participated in the study. They all completed two verbal fluency tasks. The ADHD group had statistically significant lower scores than the non-ADHD group on the phonemic, but not the semantic task. The study provides some evidence that ADHD in childhood has a negative impact on adults' phonemic verbal fluency. This finding could be probably explained by the fact that phonemic fluency is considered more cognitively demanding and impacting more on the frontal lobe functions, known to be impaired in ADHD, than semantic fluency.
Full Text Available Background: Gastroesophageal reflux disease (GERD is associated with a number of comorbidities in pediatrics. However, its association with attention deficit hyperactivity disorder (ADHD has not been reported. The aim of the present study was to investigate the prevalence of ADHD in pediatric patients newly diagnosed with GERD. Materials and Methods: Sixty newly-diagnosed treatment naive GERD patients and sixty healthy controls aging between 5 to 12 years referring to the Children and Adolescent’s medical center, Tehran, Iran were recruited in a case-control study during the year 2015. Then patients were evaluated for ADHD by a psychiatrist according to the DSM-IV criteria. The revised Conners' Parent Rating Scale (CPRS-R was used for assessment of the symptoms of ADHD. To screen for psychiatry disorders other than ADHD, the Kiddie-Sads-Present and Lifetime Version (K-SADS-PL questionnaire was used. Logistic regression analysis was used for modeling the association between GERD and ADHD in the study sample. Results: The mean age of GERD patients was 5.77±2.27 and for non-GERD controls was 6.03±2.52 (P= 0.543. Thirty-three out of 60 (55% GERD patients and 37 out of 60(61.66% non-GERD controls were male (P: 0.579. Prevalence of ADHD was 33.60 (55% in GERD patients and 10.60 (16.66% in non-GERD (P
Geier, David; Kern, Janet; Geier, Mark
Contradictory studies suggest that some neonatal factors may be associated with a pervasive developmental disorder (PDD) diagnosis, but limited data is available from longitudinal, prospective medical record assessments. The present hypothesis-testing longitudinal, case-control study evaluated birth characteristics among cases diagnosed with a PDD in comparison to controls by examining prospectively collected automated medical records within the Vaccine Safety Datalink (VSD) database. Cases were Health Maintenance Organization (HMO)-enrolled from birth until diagnosed with International Classification of Disease, 9th revision (ICD-9) PDD (299.xx) and controls were HMO-enrolled from birth for at least 4.75 years without a PDD diagnosis. The birth characteristics examined included: gender, gestational age in weeks at birth, mean birth weight in grams, Appearance-Pulse-Grimace-Activity-Respiration (APGAR) scores at 1 minute and 5 minutes, and maternal age in years at birth. Cases had a significantly increased male/female ratio relative to controls. By contrast, mean gestational age at birth, mean birth weight, mean maternal age at birth, and mean APGAR scores at 1 minute and 5 minutes were not statistically different among cases compared to controls. This study indicates that cases diagnosed with a PDD as compared to controls do not have significant differences in neonatal factors.
Pasterski, Vickie; Mastroyannopoulou, Kiki; Wright, Deborah; Zucker, Kenneth J; Hughes, Ieuan A
The aims of the current study were twofold: (1) to assess the prevalence/severity of posttraumatic stress symptoms (PTSS) as well as cognitive and emotional responses in parents whose children were diagnosed with a disorder of sex development (DSD); and (2) to assess factors which contributed to PTSS. We hypothesized that parents would show elevated levels of PTSS and that negative cognitive and/or emotional responses would be predictive. Participants were parents of children diagnosed with a DSD. Thirty-six mothers and 11 fathers completed a measure of posttraumatic stress and reported difficulties in the domains of cognition (e.g., confusion) and emotion (e.g., grief). Using multiple regression, we determined factors contributing to parental PTSS. Reported PTSS was high: 31 % of mothers and 18 % of fathers met the threshold for caseness for Posttraumatic Stress Disorder. Regression included: child sex, parent sex, child age at diagnosis, years since diagnosis, genital ambiguity, father occupation, cognitive confusion, and emotional distress. Only cognitive confusion contributed significantly to variance in PTSS. Parents of children with DSD may experience the diagnosis as traumatic, evidenced by high rates of PTSS in the current report. Assessment of reactions to their children's diagnoses revealed that cognitive confusion, and not emotional distress, predicted PTSS. In this case, direct cognitive interventions may be applicable. Though psychological support is widely recommended, no detailed intervention has been offered. Our findings suggest that we may directly apply models successful in other areas of pediatrics, such as pediatric oncology. Future studies may assess the usefulness of such an intervention.
Lehnhardt, F-G; Gawronski, A; Volpert, K; Schilbach, L; Tepest, R; Huff, W; Vogeley, K
High-functioning autism (HFA) and Aspergers syndrome (AS) are autism spectrum disorders (ASD) characterised by disturbances in social interaction, both verbal and non-verbal communication and repetitive and/or restrictive behaviour since early childhood. Symptoms appear generally during early childhood and adolescence. The increasing need to clarify diagnostic queries in advanced age led to the constitution of specialised outpatient clinics for adults involving a growing amount of HFA/AS subjects diagnosed late in life. However, thus far neuropsychological data about this group are scarce. We present a subgroup of 39 patients with HFA/AS (mean age at diagnosis 31.1 ± 8.9 years) who were consecutively diagnosed at the autism outpatient clinic at the Department of Psychiatry at the University Hospital Cologne. Autistic symptoms (autism spectrum quotient; AQ), depressive symptoms (Beck depression inventory; BDI), general intelligence (HAWIE-R), social cognition ("theory of mind", ToM) and executive functioning (COWAT) were systematically studied in comparison to a control group matched for age, education, gender and intelligence (n = 39). HFA/AS subjects presented higher AQ scores (40.4 ± 5.2) as opposed to the healthy controls (13.5 ± 4.8). Neuropsychologically, patients showed deficits in social cognition, executive functions and in subtests of HAWIE-R related to verbal comprehension and perceptual organisation as opposed to the healthy control group. The diagnosis of autistic disorders in adulthood basically relies on the clinical assessment of autistic core symptoms which were corroborated by high AQ values. The self-rating instrument AQ was found to be highly discriminative between the HFA/AS group and the healthy control group. The neuropsychological profile of adult HFA/AS patients diagnosed late in life is compatible with that of previously investigated HFA/AS populations. These findings show that such basic autism-associated deficits persist until
Adibi, Shawn S; Kookal, Krishna Kumar; Fishbeck, Nichole M; Thompson, Chris R; Walji, Muhammad F
Temporomandibular disorders and orofacial pain (TMD/OFP) conditions are challenging to diagnose for predoctoral dental students due to the multifactorial etiology, complexity, and controversial issues surrounding these conditions. The aim of this study was to determine if patients in the clinic of one U.S. dental school reported existing signs and symptoms of TMD/OFP, whether the dental students diagnosed the condition based on the reported signs and symptoms, and if the condition was then treated. The study was based on a retrospective analysis of electronic health record data over a three-year period. The results showed that, during the study period, 21,352 patients were treated by student providers. Of those patients, 5.33% reported signs or symptoms associated with TMD/OFP; 5.99% received a TMD/OFP diagnosis; and 0.26% received at least one form of TMD/OFP treatment that had either a diagnosis or signs/symptoms of TMD/OFP. In addition, a small percentage (0.24%) of patients with no documented diagnosis received some sort of TMD/OFP-related treatment. A randomly selected sample of 90 patient charts found that no diagnoses of TMD/OFP were recorded in any of them. The results suggested that students had only marginally diagnosed the problems. Training for students including comprehensive didactic courses and clinical experiences to gain knowledge, context, and skill may be required to ensure they reach the required level of competence and prepare them to face the diagnostic challenges of TMD/OFP after graduation.
Bakker, I.M.; Terluin, B.; Marwijk, van H.W.J.; Mechelen, van W.; Stalman, W.A.B.
The primary care evaluation of mental disorders (PRIME-MD) can be seen as characteristic for successive refinements of criteria and structured interview techniques for diagnosing psychiatric disorders in primary care. It is one of the most widely used instruments, but there is no evidence to support
Brossard-Racine, Marie; Shevell, Michael; Snider, Laurie; Belanger, Stacey Ageranioti; Majnemer, Annette
Motor difficulties are common in children with Attention Deficit Hyperactivity Disorder (ADHD). Although preliminary evidence has suggested that methylphenidate can improve the motor skills in children with ADHD and Developmental Coordination Disorder (DCD), the effect of stimulant medication on motor performance in children newly diagnosed with…
Hess, Julie; Matson, Johnny; Neal, Daniene; Mahan, Sara; Fodstad, Jill; Bamburg, Jay; Holloway, Jodie
Forty-eight adults diagnosed with intellectual disabilities and Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified were examined with regard to psychotropic medication side effects. Participants were divided into 4 groups: no psychotropic medication group (n = 9); atypical antipsychotic medication group (n = 13);…
Full Text Available Abstract Background Sixty percent of eating disorders do not meet criteria for anorexia- or bulimia nervosa, as defined by the Diagnostic and Statistical Manual version 4 (DSM-IV. Instead they are diagnosed as ‘eating disorders not otherwise specified’ (EDNOS. Discrepancies between criteria and clinical reality currently hampering eating disorder diagnoses in the DSM-IV will be addressed by the forthcoming DSM-V. However, future diagnoses for eating disorders will rely on current advances in the fields of neuroimaging and genetics for classification of symptoms that will ultimately improve treatment. Discussion Here we debate the classification issues, and discuss how brain imaging and genetic discoveries might be interwoven into a model of eating disorders to provide better classification and treatment. The debate concerns: a current issues in the classification of eating disorders in the DSM-IV, b changes proposed for DSM-V, c neuroimaging eating disorder research and d genetic eating disorder research. Summary We outline a novel evidence-based ‘impulse control’ spectrum model of eating disorders. A model of eating disorders is proposed that will aid future diagnosis of symptoms, coinciding with contemporary suggestions by clinicians and the proposed changes due to be published in the DSM-V.
Aiach Dominitz, Valerie
The aim of the present paper is to open the discourse regarding the unmet needs of specific patients, especially those with substance use disorder and/or personality disorder where 'multimorbidities', and/or 'overdiagnosis' and/or 'diagnosis overlap' are frequent. An additional aim is to review the main therapeutic purpose and concepts of Gestalt therapy which might be appropriate in the treatment of these patients often characterized by their difficulties in being aware and in contact in the 'here and now'. I first start with an overview of Gestalt therapy concepts. Then, I illustrate Gestalt's 'here and now' and awareness concepts applied during 18 sessions with an inpatient diagnosed with substance use and bipolar disorders. In addition, the patient had to face an open criminal charge, was regarded as having an antisocial personality disorder and argued suffering from post-traumatic stress disorder. After this two-month therapy period, the patient entered for the first time a daily rehabilitation program in the community, where he was doing well (this after a few prior hospitalizations). The awareness development in the 'here and now' through which different contact styles and cycles of experiences are experienced is a process that allowed the patient to start experiencing contact with himself, his true needs and his environment. This contributed to his well-being improvement, led and supported his rehabilitation and reinsertion within the society and decrease his relapses, either with drugs or criminal activities. Copyright © 2016 John Wiley & Sons, Ltd. People with substance use disorder (where 'multimorbidities', 'overdiagnosis' or 'diagnosis overlap' are frequent), people with personality disorder(s) or people who have difficulties in defining what really disturbs them are the same people who could benefit of GT encouraging awareness and contact development in the 'here and now'. Gestalt therapy should not be regarded as a practitioner's toolbox but as a
Proudfoot, Judith G; Parker, Gordon B; Benoit, Megan; Manicavasagar, Vijaya; Smith, Meg; Gayed, Aimee
Bipolar disorder is chronic condition involving episodes of both depression and elevated mood, associated with significant disability and high relapse rates. Recent estimates suggest a lifetime prevalence of 5%. Little is known about the subjective experiences of patients after receiving a diagnosis of bipolar disorder, and the impact of these experiences on patients' willingness and ability to work with their health professionals to find the most effective combination of treatments and to set up self-management plans. This paper describes a qualitative study exploring the experiences and difficulties faced by patients after they have received a diagnosis of bipolar disorder, as expressed online to expert patients trained to provide informed support. Qualitative study. Online communication within a public health service setting. Twenty-six participants with recently-diagnosed bipolar disorder communicated online with 'Informed Supporters', people who had been managing their bipolar disorder effectively for 2 years or more, as part of an online psycho-education programme. Participants cited unwanted side-effects of medication, coping with unpleasant symptoms, positive and negative reactions to the diagnosis, identifying early warning signs and triggers of the illness, the loss of a sense of self, uncertainty about their future and stigma as issues of major importance after diagnosis. Personal concerns and difficulties following diagnosis can undermine effective treatment, thwart self-management efforts and interfere with effective functioning. Such data are important for clinicians to take into account when they work in partnership with their patients to fine-tune treatments and help them set up self-management plans.
Falcus, Craig; Johnson, Darren
This study explored the violent offence accounts of life-sentenced prisoners diagnosed with comorbid antisocial personality disorder (ASPD) and borderline personality disorder (BPD). The aim of the current study was to gain needed clinical insight into the mechanisms involved in this specific group offenders' use of violence against others. Six adult male personality-disordered offenders were interviewed via a semistructured interview schedule to collate individual offence accounts. Interview transcripts were analyzed by the lead researcher (first author) using interpretative phenomenological analysis (IPA) who compared and contrasted findings to develop superordinate themes across the group. External auditing analysis was conducted by the second researcher. Four superordinate themes resulted. These were "A victim of a hostile and rejecting world," "Self as unacceptable to others," "Unwanted emotions that cannot be tolerated or controlled," and "Violent revenge as catharsis." The results support the view that emotional dysregulation is central in driving acts of violence in those with comorbid ASPD/BPD; nevertheless, shame was particularly prevalent. Thus an argument is made for the adaptation of evidence-based treatments for this specific forensic population to ensure a particular focus on helping men tolerate feelings of shame. The limitations of the study are also discussed.
Green, Jennifer Greif; Avenevoli, Shelli; Finkelman, Matthew; Gruber, Michael J; Kessler, Ronald C; Merikangas, Kathleen R; Sampson, Nancy A; Zaslavsky, Alan M
Validity of the adolescent version of the World Health Organization Composite International Diagnostic Interview (CIDI) Version 3.0, a fully-structured research diagnostic interview designed to be used by trained lay interviewers, is assessed in comparison to independent clinical diagnoses based on the Schedule for Affective Disorders and Schizophrenia for School-age Children (K-SADS). This assessment is carried out in the clinical reappraisal sub-sample (n = 347) of the US National Comorbidity Survey Adolescent (NCS-A) supplement, a large (n = 10,148) community epidemiological survey of the prevalence and correlates of adolescent mental disorders in the United States. The diagnoses considered are panic disorder and phobic disorders (social phobia, specific phobia, agoraphobia). CIDI diagnoses are found to have good concordance with K-SADS diagnoses [area under the receiver operating characteristic curve (AUC) = 0.81-0.94], although the CIDI diagnoses are consistency somewhat higher than the K-SADS diagnoses. Data are also presented on criterion-level concordance in an effort to pinpoint CIDI question series that might be improved in future modifications of the instrument. Finally, data are presented on the factor structure of the fears associated with social phobia, the only disorder in this series where substantial controversy exists about disorder subtypes. Copyright © 2011 John Wiley & Sons, Ltd.
Delia L. Lang
Full Text Available Objective. Despite recommendations for concurrent use of contraceptives and condoms to prevent unintended pregnancy and STIs, multimethod contraceptive use among women is poor. This study examined individual-, interpersonal-, and environmental-level factors that predict multimethod use among sexually active adolescent women diagnosed with psychological disorders. Methods. This multisite study analyzed data from 288 sexually active adolescent women who provided sociodemographic, psychosocial, and behavioral data related to birth control and condom use. Results. 34.7% of the participants reported multimethod use in the past three months. Controlling for empirically and theoretically relevant covariates, a multivariable logistic regression identified self-efficacy, multiple partners, pregnancy history, parental communication, parental norms about sex, and neighborhood cohesion as significant predictors of multimethod use. Conclusions. While continued targeted messages about multi-method contraceptive use are imperative at the individual level, an uptake in messages targeting interpersonal- and environmental-level factors such as adolescents' parents and the broader community is urgently needed.
Leaf, Justin B; Leaf, Jeremy A; Milne, Christine; Taubman, Mitchell; Oppenheim-Leaf, Misty; Torres, Norma; Townley-Cochran, Donna; Leaf, Ronald; McEachin, John; Yoder, Paul
In this study we evaluated a social skills group which employed a progressive applied behavior analysis model for individuals diagnosed with autism spectrum disorder. A randomized control trial was utilized; eight participants were randomly assigned to a treatment group and seven participants were randomly assigned to a waitlist control group. The social skills group consisted of 32, 2 h sessions. Teachers implemented a variety of behaviorally based procedures. A blind evaluator measured participants' behavior immediately prior to intervention, immediately following intervention, and during 16 and 32-week maintenance probes. Results of the study demonstrated that participants made significant improvements with their social behavior (p < .001) following intervention, and the results were maintained up to 32 weeks after intervention had concluded.
Ramos, Vera; Canta, Guilherme; de Castro, Filipa; Leal, Isabel
Research suggests that borderline personality disorder (BPD) can be diagnosed in adolescents and is marked by considerable heterogeneity. This study aimed to identify personality features characterizing adolescents with BPD and possible meaningful patterns of heterogeneity that could lead to personality subgroups. The authors analyzed data on 60 adolescents, ages 15 to 18 years, who met DSM criteria for a BPD diagnosis. The authors used latent class analysis (LCA) to identify subgroups based on the personality pattern scales from the Millon Adolescent Clinical Inventory (MACI). LCA indicated that the best-fitting solution was a two-class model, identifying two discrete subgroups of BPD adolescents that were described as internalizing and externalizing. The subgroups were then compared on clinical and sociodemographic variables, measures of personality dimensions, DSM BPD criteria, and perception of attachment styles. Adolescents with a BPD diagnosis constitute a heterogeneous group and vary meaningfully on personality features that can have clinical implications for treatment.
Singh, Inder; Swarup, Vishnu; Shakya, Sunil; Goyal, Vinay; Faruq, Mohammed; Srivastava, Achal Kumar
DNA extraction prior to polymerase chain reaction (PCR) amplification in genetic diagnoses of triplet repeat disorders (TRDs) is tedious and labour-intensive and has the limitations of sample contamination with foreign DNA, including that from preceding samples. Therefore, we aimed to develop a rapid, robust, and cost-effective method for expeditious genetic investigation of TRDs from whole blood as a DNA template. Peripheral blood samples were collected from 70 clinically suspected patients of progressive ataxia. The conventional method using genomic DNA and single-step Blood-Direct PCR (BD-PCR) method with just 2μl of whole blood sample were tested to amplify triplet repeat expansion in genes related to spinocerebellar ataxia (SCA) types 1, 2, 3, 12 and Friedreich's ataxia (FRDA). Post-PCR, the allele sizes were mapped and repeat numbers were calculated using GeneMapper and macros run in Microsoft Excel programmes. Successful amplification of target regions was achieved in all samples by both methods. The frequency of the normal and mutated allele was concordant between both methods, diagnosing 37% positive for a mutation in either of the candidate genes. The BD-PCR resulted in higher intensities of product peaks of normal and pathogenic alleles. The nearly-accurate sizing of the normal and expanded allele was achieved in a shorter time (4-5h), without DNA extraction and any risk of cross contamination, which suggests the BD-PCR to be a reliable, inexpensive, and rapid method to confirm TRDs. This technique can be introduced in routine diagnostic procedures of other tandem repeat disorders. Copyright © 2017 Elsevier B.V. All rights reserved.
Khawaja, S N; McCall, W; Dunford, R; Nickel, J C; Iwasaki, L R; Crow, H C; Gonzalez, Y
Pain-related temporomandibular disorders (TMDs) are the most prevalent conditions among TMDs. There is contrasting evidence available for association of pain-related TMD and masticatory muscle activity (MMA). The present investigation assesses the associations between MMA levels of masseter and temporalis muscles during awake and sleep among pain-related TMD diagnostic groups. The department of Oral Diagnostic Sciences, University at Buffalo. Twenty females and six males participated in this study. Using the diagnostic criteria for temporomandibular disorders (DC-TMDs), participants were diagnostically categorized. Subjects used a custom monitoring system, which recorded infield muscle activities. A factorial model tested for association between independent variable (muscle, time period, MMA level, and diagnostic group) effects and the logarithm of MMA. Greenhouse-Geisser test was used to determine any statistically significant associations (p≤0.003). No statistically significant association was found between four-way, three-way, and two-way analyses. However, among the main effects, range of magnitudes was the only variable to be statistically significant. Although the data suggest a trend of increased masseter MMA in the pain-related TMD diagnoses group both during awake and sleep time periods, such observation is not maintained for the temporalis muscle. In addition, temporalis MMA was found to be higher in the pain-related TMD diagnoses group only at extreme activity levels (<25 and ≥80% ranges). This data support the association between masticatory muscle hyperactivity and painful TMD conditions. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Nygaard, Mette; Sonne, Charlotte; Carlsson, Jessica
A substantial amount of refugees (10-30%) suffer from Post-Traumatic Stress Disorder (PTSD). In Denmark there are different facilities specialised in psychiatric treatment of trauma-affected refugees. A previously published case report from such a facility in Denmark shows that some patients suffer from secondary psychotic symptoms alongside their PTSD. The aim of this study was to illustrate the characteristics and estimate the prevalence of psychotic features in a clinical population of trauma-affected refugees with PTSD. Psychiatric records from 220 consecutive patients at Competence Centre for Transcultural Psychiatry (CTP) were examined, and all the PTSD patients were divided into two groups; one group with secondary psychotic features (PTSD-SP group) and one without (PTSD group). A categorisation and description of the secondary psychotic features was undertaken. One hundred eighty-one patients were diagnosed with PTSD among which psychotic symptoms were identified in 74 (40.9, 95% CI 33.7-48.1%). The majority of symptoms identified were auditory hallucinations (66.2%) and persecutory delusions (50.0%). There were significantly more patients diagnosed with enduring personality change after catastrophic experience in the PTSD-SP group than in the PTSD group (P = 0.009). Furthermore the PTSD-SP group included significantly more patients exposed to torture (P = 0.001) and imprisonment (P = 0.005). This study provides an estimation of PTSD-SP prevalence in a clinical refugee population with PTSD. The study points to the difficulties distinguishing psychotic features from flashbacks and the authors call for attention to psychotic features in PTSD patients in order to improve documentation and understanding of the disorder.
Michael J. Weiss
Full Text Available Both movement differences and disorders are common within autism spectrum disorders (ASD. These differences have wide and heterogeneous variability among different ages and sub-groups all diagnosed with ASD. Gait was studied in a more homogeneously identified group of nine teenagers and young adults who scored as severe in both measures of verbal communication and overall rating of Autism on the Childhood Autism Rating Scales (CARS. The ASD individuals were compared to a group of typically developing university undergraduates of similar ages. All participants walked a distance of 6-meters across a GAITRite electronic walkway for six trials. The ASD and comparison groups differed widely on many spatiotemporal aspects of gait including: step and stride length, foot positioning, cadence, velocity, step time, gait cycle time, swing time, stance time, and single and double support time. Moreover, the two groups differed in the percentage of the total gait cycle in each of these phases. The qualitative rating of Body Use on the CARS also indicated severe levels of unusual body movement for all of the ASD participants. These findings demonstrate that older teens and young adults with severe forms of Verbal Communication Impairments and Autism differ widely in their gait from typically developing individuals. The differences found in the current investigation are far more pronounced compared to previous findings with younger and/or less severely involved individuals diagnosed with ASD as compared to typically developing controls. As such, these data may be a useful anchor-point in understanding the trajectory of development of gait specifically and motor functions generally.
Alpha Fardah Athiyyah
Full Text Available Introduction: Gastrointestinal endoscopy in children requires more than the technical expertise needed to pass an endoscope through a smaller digestive tract lumen. Children require more careful attention to patient preparation and sedation compared with adults. The incidence of various disease varies through childhood and differs from the adult. Aim of this study is to elucidate proﬁle esophagoduodenoscopic dan colonoscopic procedures in diagnosing gastrointestinal tract disorder in children in Soetomo Hospital, including role of nursing team role these procedures. Method: This study is a descriptive study which is done in Gastroenterlology Division Soetomo Hospital in October 2009–March 2012 for patients undergoing esophagoduodenoskopy and colonoscopy. Age, sex, indication, preparation, sedation, results, complication data were collected. Data from pathological examination were also collected. Data analysis were done descriptively such as mean, median and percentage, and presented in tables. Result: There were 114 patients undergo esophagoduodenoscopy procedure and 7 patients undergo colonoscopy procedures. The most indication for esophagoduodenoscopy was recurrent abdominal pain (71.1% and for colonoscopy was chronic diarrhea (42.8%. Nill by mouth for 6 hours is preparation for esophagoduodenoscopy and for colonoscopy needs bowel preparation a day before. Bowel preparation is using Biphosphate Sodium Phosphate oral and enema. Most of all sedation was done by anasthesiologist. Nursing team role were start from preparation, relaxing patient, and monitoring during and after procedure. Chronic gastroduodenitis was found on 110 (96.4% cases, 15 cases of it accompanied nodularity. Seventy cases (64.9% from 114 cases of biopsy result were Helicobacter pylore positive, and 21 cases of it has Barret's esophagus. Colonoscopy procedure results 5 (71.4% cases were colitis, and 3 of them are amoebic colitis. Discussion: Diagnosis of sructural and
Rossi, Alberto; Morgan, Vera; Amaddeo, Francesco; Sandri, Marco; Grigoletti, Laura; Maggioni, Francesca; Ferro, Adele; Rigon, Elena; Donisi, Valeria; Venturi, Valeria Vailati; Goria, Fabrizio; Skre, Ingunn; Tansella, Michele; Jablensky, Assen
The Diagnostic Interview for Psychoses (DIP) is a comprehensive interview schedule for psychotic disorders, linked to the OPCRIT diagnostic algorithm, bridging the gap between fully structured, lay-administered schedules and semistructured, psychiatrist-administered interviews. Here we describe the validity, reliability and applications of the Italian version of the DIP. The interview was translated into Italian and its content validity tested by back translation. Sixty patients, drawn from among those who contacted the South-Verona Community Mental Health Service, were included in the study. Each patient was first assessed independently by two raters, one of whom conducted the interview, while the other assumed the role of observer. Subsequently (median: 89 days), 44 of these patients were re-interviewed by a third rater, who made an independent assessment. Diagnostic validity was assessed in 18 cases, interviewed with the DIP and using the SCAN as 'gold standard'. The mean duration of the interview was 37 minutes for the inter-rater interviews and 39 minutes for the retest interviews. Good to excellent inter-rater reliability was demonstrated for both ICD-10 and DSM-IV diagnoses, while in the test-retest reliability pairwise agreement was high for half of the items. Diagnostic validity was good, with twelve out of the 18 DIP-OPCRIT diagnoses (67%) matching the SCAN diagnosis. Overall, the results support the reliability and validity of the Italian translation of the DIP. The Italian version will be useful both in routine practice to establish standard reference diagnoses of psychosis and in the research field, where it can be used by academic researchers in clinical trials and epidemiological studies.
Wilkins, T M; Warner, S
This paper critically examines the development of the concept of borderline personality disorder (BPD) in terms of the assumed centrality of abnormal early environments and abusive relationships. It is suggested that if BPD is conceptualized as an expression of past experiences in adult life, information regarding early histories can assist in 'making sense' of later behaviour. The aim of this review therefore is to explore how histories of women diagnosed as BPD, within a High Secure Psychiatric Hospital, may facilitate an interpretation of the 'adaptive' nature of presenting 'symptomology'. Case note material is utilized to gain insight into specific aspects of childhood experiences that have been documented, and are thus deemed significant. These findings support the perception that the role of the early environment and associated relationships are significant within written accounts of women diagnosed as having BPD. By exploring the links between trauma and BPD, this article suggests that an understanding of the effects of trauma and the importance of relationships can offer a way forward for self-reflection and future care.
Taylor, Jeanette; Iacono, William G.
This study tested differences in personality traits measured by the Multidimensional Personality Questionnaire (MPQ) in a community sample of adolescents with definite or probable conduct disorder (CD) diagnoses that did not progress to a diagnosis of antisocial personality disorder (ASPD) by early adulthood (n=43), those with definite or probable…
Oh, Sechang; Kwon, Hyeokjun; Varadan, Vijay K.
Good sleep is critical for one's overall physical and mental health but more than 50 million Americans have experienced or are suffering from sleep disorders. Nevertheless, 85% of them remain undiagnosed or untreated. They can lead to chronic diseases. Sleep disorders are diagnosed through polysomnography, also known as sleep study, performed in a sleep laboratory overnight. This perturbs his/her daily sleep routine, and consequently, an accurate diagnosis cannot be made. Many companies have been developing home sleep test systems to reduce the cost of sleep studies and provide a more convenience solution to patients. The category of the system varies as type II, type III and type IV according to the type of sleep study. Current systems cannot be easily extended from one type to include a higher type. A patient who has a type III system to diagnose sleep apnea should additionally purchase a type II system which has functions that overlap with a type III system, to evaluate sleep stages. In this paper, we propose a wireless telemedicine system for easy extension of channels using the start network topology of the Zigbee protocol. The HST system consists of two wireless HST devices with a Zigbee module, a wireless HST receiver with both a Zigbee and a Wi-Fi module, and a sever which monitors/saves the physiological signals. One transmitter provides 5 channels for 2x EOG, 2x EEG and EMG to evaluate sleep stages. The other transmitter provides 5 additional channels for ECG, nasal air flow, body position, abdominal/chest efforts and oxygen saturation to diagnose sleep apnea. These two transmitters, acting as routers, and the receiver as a coordinator form a Zigbee star network. The data from each transmitter in the receiver are retransmitted to the monitoring unit through Wi-Fi. By building a star network with Zigbee, channels can be easily extended so that low level systems can be upgraded to higher level systems by simply adding the necessary channels. In addition
Huerta, Marisela; Bishop, Somer L; Duncan, Amie; Hus, Vanessa; Lord, Catherine
Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses. Three data sets included 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder). Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) and clinical observation instrument (Autism Diagnostic Observation Schedule) were matched to DSM-5 criteria and used to evaluate the sensitivity and specificity of the proposed DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Based on just parent data, the proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses. Sensitivity remained high in specific subgroups, including girls and children under 4. The specificity of DSM-5 ASD was 0.53 overall, while the specificity of DSM-IV ranged from 0.24, for clinically diagnosed PDD not otherwise specified (PDD-NOS), to 0.53, for autistic disorder. When data were required from both parent and clinical observation, the specificity of the DSM-5 criteria increased to 0.63. These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger's disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.
Gómez-Romero, M; Jiménez-Palomares, M; Rodríguez-Mansilla, J; Flores-Nieto, A; Garrido-Ardila, E M; González López-Arza, M V
Dementia is characterised by cognitive deterioration and the manifestation of psychological and behavioural symptoms, especially changes in perception, thought content, mood, and conduct. In addition to drug therapy, non-pharmacological treatments are used to manage these symptoms, and one of these latter treatments is music therapy. Since this novel technique in non-verbal, it can be used to treat patients with dementia at any stage, even when cognitive deterioration is very severe. Patients' responses to music are conserved even in the most advanced stages of the disease DEVELOPMENT: A literature research was carried out using the following databases: Academic Search Complete, PubMed, Science Direct y Dialnet. The period of publication was 2003 to 2013 and the search keywords were 'Music Therapy, Dementia, Behaviour, Behaviour Disorders y Behavioural Disturbances'. Out of the 2188 studies that were identified, 11 studies met inclusion criteria for the systematic review. Music therapy is beneficial and improves behavior disorders, anxiety and agitation in subjects diagnosed with dementia. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.
This paper analyses 12 parent interviews to investigate the stigmatisation of parents of children diagnosed with an autism spectrum disorder. Drawing on poststructural accounts of the relationship between knowledge and subjectivity, the stigma concept is critically interrogated in order to address previous individualistic constructions of stigmatisation and to place stigma within the power dynamics of social control. The results of the study indicate that a child's diagnosis with an autism spectrum disorder (ASD) is critical for parents to resist stigmatisation. Parents experienced considerable enacted stigma, but successfully resisted felt stigma by deploying medical knowledge to articulate unspoiled subject positions. The institutionalisation of medical knowledge within the autism community was critical to this process. Resistance to enacted stigma was successful to the degree that medical constructions of deviance deployed by parents were accepted by others, notably those in power within institutions. It is concluded that poststructural accounts of subjectivity and social control provide a useful way of conceptualising stigmatisation. An acceptance of the painful nature of stigma as lived experience co-exists with an emphasis on the constantly negotiated nature of embodied subjectivity as a contingent social process to illustrate the conditions for active resistance to stigmatisation.
Pejovic, Slobodanka; Natelson, Benjamin H; Basta, Maria; Fernandez-Mendoza, Julio; Mahr, Fauzia; Vgontzas, Alexandros N
Since chronic fatigue syndrome (CFS) and fibromyalgia (FM) often co-exist, some believe they reflect the same process, somatization. Against that hypothesis are data suggesting FM but not CFS was common in patients with sleep-disordered breathing (SDB). The presence of discrete case definitions for CFS and FM allowed us to explore rates of CFS alone, CFS with FM, and FM alone in SDB patients compared to those with sleep complaints that fulfilled criteria for insomnia. Participants were 175 sequential patients with sleep-related symptoms (122 had SDB and 21 had insomnia) and 39 healthy controls. Diagnoses were made by questionnaires, tender point count, and rule out labs; sleepiness was assessed with Epworth Sleepiness Scale and mood with Beck Depression Inventory. Rates of CFS, FM or CFS + FM were high: 13% in SDB and 48% in insomnia. CFS occurred frequently in SDB and insomnia, but FM occurred frequently only in insomnia. SDB patients with CFS and/or FM had higher daytime sleepiness than those without these disorders. CFS patients should complete Epworth scales, and sleep evaluation should be considered for those with scores ≥ 16 before receiving the diagnosis of CFS; the coexistence of depressed mood in these patients suggests some may be helped by treatment of their depression. That FM was underrepresented in SDB suggests FM and CFS may have different underlying pathophysiological causes.
Janet C'de Baca
Full Text Available Personality Disorders (PDs impair the ability to function socially and occupationally. PD prevalence rates among veterans who have also been diagnosed with posttraumatic stress disorder (PTSD range from 45%–79%. This study examined ethnic differences in PDs assessed with the Millon Clinical Multiaxial Inventory-III in 260 non-Hispanic white (64%, Hispanic (27%, and African American (9%, mostly single, women veterans in treatment for PTSD. After adjusting for covariates including number and sexual-nature of trauma, findings revealed the adjusted odds ratio of having a cluster A PD was almost three times higher for African Americans (p = 0.046 then the other two ethnic groups, which may be driven by the paranoid PD scale and potentially reflects an adaptive response to racial discrimination. In cluster designation analysis, the odds were twice as high of having a cluster B PD with childhood trauma (p = 0.046, and a cluster C PD with sexual trauma (p = 0.004, demonstrating the significance of childhood and sexual trauma on long-term chronic personality patterns in women veterans. These results highlight the importance of using instruments with demonstrated diagnostic validity for minority populations.
Lehnhardt, F-G; Gawronski, A; Volpert, K; Schilbach, L; Tepest, R; Vogeley, K
The first time diagnosis of autism spectrum disorder (ASD) after passing childhood and adolescence is still considered a rare event. However, in recent years an increasing demand for diagnostic clarifications with suspected ASD in adulthood challenges this view. There is insufficient knowledge about the neuropsychological characterisation and psychosocial outcome of this adult subgroup in the autistic spectrum. To determine the psychosocial functioning (living status, partnerships, level of education, psychiatric history) of adult patients with late diagnosed ASD. In a retrospective study, a chart review was conducted on 178 consecutively diagnosed individuals at a specialised outpatient clinic for adults with ASD. Global ratings of psychosocial functioning, assessment of psychiatric history and neuropsychological and psychopathological investigations were evaluated. The majority of patients (92 %) diagnosed with ASD suffered from high-functioning autism (HFA)/Asperger syndrome (AS) according to the criteria of ICD-10 (F84.5). The gender ratio was 2:1 favouring males. Mean age at diagnosis (34.1 ± 9.5 years), general intelligence (HAWIE-R, global-IQ 115 ± 20) and self-rated autistic symptoms (autism spectrum quotient [AQ] 39 ± 6) were not discriminative to gender. The psychiatric history revealed a lifetime consultation rate of 78 %, most frequently with depression (50 %). The self-report instrument Beck depression inventory (BDI) identified 30 % of individuals presenting with depressive symptoms in clinical relevant intensity (BDI > 17). Achievement of an independent living status was reported by 68 % of individuals, 58 % reported about current or past intimate partnerships and almost two-thirds of the patients had achieved a higher educational status. The majority of ASD diagnosed late in lifetime turned out to be HFA/AS, presenting with high psychosocial adjustment with regard to independent living, educational status and partnerships. The high
Dykens, Elisabeth M; Roof, Elizabeth; Hunt-Hawkins, Hailee; Dankner, Nathan; Lee, Evon Batey; Shivers, Carolyn M; Daniell, Christopher; Kim, Soo-Jeong
A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical
Angriman, Marco; Caravale, Barbara; Novelli, Luana; Ferri, Raffaele; Bruni, Oliviero
This review describes recent research in pediatric sleep disorders associated with neurodevelopmental disabilities (NDDs) and their treatment. NDDs affect more than 2% of the general population and represent more than 35% of the total cases of children referred to a neuropsychiatric center for sleep problems. Specific clinical and therapeutic aspects of sleep disorders associated with Down syndrome, Fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Rett syndrome, Smith-Magenis syndrome, cerebral palsy, and autism spectrum disorders are described. Furthermore, the drugs commonly used for sleep disorders in children with NDDs are described. The review clearly highlighted that children with NDDs are often affected by sleep disorders that require appropriate clinical and therapeutic approach to improve quality of life in both patients and families. Georg Thieme Verlag KG Stuttgart · New York.
Blázquez, Ana; Mas, Sergi; Plana, Maria Teresa; Gassó, Patricia; Méndez, Iria; Torra, Mercè; Arnaiz, Joan Albert; Lafuente, Amàlia; Lázaro, Luisa
Fluoxetine (FLX) has been one of the most widely studied selective serotonin reuptake inhibitors in adolescents. Despite its efficacy, however, 30% to 40% of patients do not respond to treatment. The aim of this study was to evaluate whether clinical improvement or adverse events are related to the corrected dose of FLX at 8 and 12 weeks after starting treatment in a sample of adolescents diagnosed with major depressive disorder, obsessive-compulsive disorder, or generalized anxiety disorder. Seventy-four subjects aged between 10 and 17 years participated in the study. Clinical improvement was measured with the Clinical Global Impression-Improvement Scale, whereas the UKU (Udvalg for Klinske Undersogelser) scale was administered to assess adverse effects of treatment. Fluoxetine per kilograms of body weight was related to serum concentration of FLX, NORFLX (norfluoxetine), FLX + NORFLX, and FLX/NORFLX. No relationship was found between dose-corrected FLX levels and therapeutic or adverse effects. No differences in serum concentrations were found between responders and nonresponders to treatment. Sex differences were observed in relation to dose and FLX serum concentration. The analysis by diagnosis revealed differences in FLX dose between obsessive-compulsive disorder patients and both generalized anxiety disorder and major depressive disorder patients. Fluoxetine response seems to be influenced by factors such as sex, diagnosis, or certain genes that might be involved in the drug's pharmacokinetics and pharmacodynamics. Clinical and pharmacogenetic studies are needed to elucidate further the differences between treatment responders and nonresponders.
Angle, Susan Pugh
ABSTRACT The number of reported students with psychiatric disabilities who are seeking services and/or accommodations is steadily increasing on college campuses. Much of the research and documentation that surround the study of college students with psychiatric disorders is extremely broad in focus and tends to group all psychiatric diagnoses together when reporting outcome studies. The research literature that is devoted to the study of the college student diagnoses with Panic Disor...
Black, Donald W; Shaw, Martha; Allen, Jeff
The authors assessed clinical symptoms and self-reported shopping and spending behavior in people diagnosed with compulsive shopping (CS) at a 5-year follow-up interview. All met the criteria of McElroy et al. for lifetime CS and had the disorder for >1year. Structured and semistructured instruments and self-report questionnaires were used to collect data. Of the original 26 subjects, 17 (65%) were interviewed and are the focus of this report. At follow-up, their ages ranged from 23 to 67years (mean=44years). Lifetime psychiatric comorbidity was common, but few had current psychiatric disorders at follow-up. Interest in shopping and spending decreased for eight (47%), stayed the same for five (29%), and increased for four (24%) subjects. Eleven subjects (65%) reported having attempted to quit their CS and three (18%) reported successfully doing so. Triggers for returning to CS included feelings of pressure/excitement/tension to shop; boredom; negative feelings such as sadness, depression, frustration, or anger; and the desire for positive feelings like happiness, power, or elation. Mean scores on the Compulsive Buying Scale (CBS) and the shopping version of the Yale-Brown Obsessive-Compulsive Scale showed overall improvement in CS symptoms (d=1.16 and d=-1.19, respectively); subjects were also less impulsive (d=-0.48). At baseline and follow-up, those with a lifetime mood disorder tended to have greater CS severity. While the subjects showed overall improvement, most had ongoing symptoms of CS. The implications of the findings are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.
Szarkowski, Amy; Flynn, Suzanne; Clark, Terrell
Utilizing a retrospective chart review of 30 children who have been dually diagnosed with hearing loss and autism spectrum disorders (ASDs), this study explores the process of arriving at the diagnosis of ASD in this population. Factors of interest include the age of ASD diagnosis in children who are deaf and hard of hearing, the types of professionals involved in making the diagnosis, and the measures used for assessment. Complications in the diagnostic process are highlighted. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Full Text Available Successful automated diagnoses of attention deficit hyperactive disorder (ADHD using imaging and functional biomarkers would have fundamental consequences on the public health impact of the disease. In this work, we show results on the predictability of ADHD using imaging biomarkers and discuss the scientific and diagnostic impacts of the research. We created a prediction model using the landmark ADHD 200 data set focusing on resting state functional connectivity (rs-fc and structural brain imaging. We predicted ADHD status and subtype, obtained by behavioral examination, using imaging data, intelligence quotients and other covariates. The novel contributions of this manuscript include a thorough exploration of prediction and image feature extraction methodology on this form of data, including the use of singular value decompositions, CUR decompositions, random forest, gradient boosting, bagging, voxel-based morphometry and support vector machines as well as important insights into the value, and potentially lack thereof, of imaging biomarkers of disease. The key results include the CUR-based decomposition of the rs-fc-fMRI along with gradient boosting and the prediction algorithm based on a motor network parcellation and random forest algorithm. We conjecture that the CUR decomposition is largely diagnosing common population directions of head motion. Of note, a byproduct of this research is a potential automated method for detecting subtle in-scanner motion. The final prediction algorithm, a weighted combination of several algorithms, had an external test set specificity of 94% with sensitivity of 21%. The most promising imaging biomarker was a correlation graph from a motor network parcellation. In summary, we have undertaken a large-scale statistical exploratory prediction exercise on the unique ADHD 200 data set. The exercise produced several potential leads for future scientific exploration of the neurological basis of ADHD.
Santos, Maria Isabel; Breda, Ana; Almeida, Ana Margarida
Learning environment on mathematics for autistic children is a prototype of a digital environment with dynamic adaptation features designed to offer activities towards the development of mathematical reasoning in children aged 6-12 years, diagnosed with autism spectrum disorders (ASD), a neurodevelopmental disorder characterized by deficits in…
Kjellgren, Anette; Edebol, Hanna; Nordén, Tommy; Norlander, Torsten
The aim of this single-subject study was to report experiences from one and a half years of regular floating as described by a person with neuropsychiatric and mental health disorders. Floating, or Flotation Restricted Environmental Stimulation Technique, involves relaxation and sensory deprivation by means of resting in a tank with highly salted and body-tempered water. The subject, a 24-year-old woman diagnosed with attention deficit hyperactivity disorder, atypical autism, post-traumatic s...
Kristofiková, Zdena; Stástný, Frantisek; Bubeniková, Vera; Druga, Rastislav; Klaschka, Jan; Spaniel, Filip
Studies suggest age- and sex-dependent structural and functional patterns of human cerebral lateralization underlie hemisphere specialization and its alterations in schizophrenia. Recent works report sexual dimorphism of neurons in the hippocampal formation and specialization of hemispheres in rats. Our experiments indicate for the first time functional lateralization of the high-affinity choline uptake (HACU) system directly associated with a synthesis of acetylcholine in the hippocampus of Wistar rats. The markedly increased HACU activity was found in the left compared to the right hippocampus of adult male but not female animals. Lineweaver-Burk plot analysis revealed a statistically significant increase of Vmax in the left hippocampus of 14-day-old when compared to 7-day-old males. It appears that laterality of HACU occurs during late postnatal maturation, and its degree is markedly enhanced after puberty and attenuated during aging. Quinolinic acid (QUIN), an endogenous agonist of N-methyl-D-aspartate type glutamate receptors, was used in this study to evaluate the neurodevelopmental hypothesis of schizophrenia. It is known that elevated levels of QUIN accompany viral infections, increasing the risk of developing schizophrenia. Bilateral intracerebroventricular application of QUIN (250 nmoles/ventricle) to pups aged 12 days significantly impaired the cholinergic hippocampal system of adolescent male and female rats and reversed lateralization of male HACU. Morphological analysis indicated marked changes in brain lesion sizes (extensive 24 h and moderate 38 days after the operation). Asymmetry of lesions was observed in the majority of cases, but the left hemisphere was not generally more vulnerable to QUIN effects than the right side. Moreover, no lateral differences were found between lesioned hippocampi in the specific binding of [3H]hemicholinium-3 (10%-15% loss of binding sites when compared to sham-operated animals). In summary, our results indicate a
Background DSM-IV eating disorder (ED) diagnoses have been criticized for lack of clinical utility, diagnostic instability, and over-inclusiveness of the residual category “ED not otherwise specified” (EDNOS). Revisions made in DSM-5 attempt to generate a more scientifically valid and clinically relevant system of ED classification. The aim with the present study was to examine clinical characteristics and distinctiveness of the new DSM-5 ED diagnoses, especially concerning purging disorder (PD). Methods Using a large naturalistic Swedish ED database, 2233 adult women were diagnosed using DSM-5. Initial and 1-year follow-up psychopathology data were analyzed. Measures included the Eating Disorder Examination Questionnaire, Structural Eating Disorder Interview, Clinical Impairment Assessment, Structural Analysis of Social Behavior, Comprehensive Psychiatric Rating Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders. Results Few meaningful differences emerged between anorexia nervosa binge/purge subtype (ANB/P), PD, and bulimia nervosa (BN). Unspecified Feeding and Eating Disorders (UFED) showed significantly less severity compared to other groups. Conclusions PD does not appear to constitute a distinct diagnosis, the distinction between atypical AN and PD requires clarification, and minimum inclusion criteria for UFED are needed. Further sub-classification is unlikely to improve clinical utility. Instead, better delineation of commonalities is important. PMID:24999410
Lee, Shyh-Chyang; Hu, Li-Yu; Huang, Min-Wei; Shen, Cheng-Che; Huang, Wei-Lun; Lu, Ti; Hsu, Chiao-Lin; Pan, Chih-Chuan
Previous studies have reported that depression may play a crucial role in the occurrence of vertebral fractures. However, a clear correlation between depressive disorders and osteoporotic fractures has not been established. We explored the association between depressive disorders and subsequent new-onset vertebral fractures. Additionally, we aimed to identify the potential risk factors for vertebral fracture in patients with a depressive disorder. We studied patients listed in the Taiwan National Health Insurance Research Database who were diagnosed with a depressive disorder by a psychiatrist. The comparison cohort consisted of age- and sex-matched patients without a depressive disorder. The incidence rate and hazard ratios of subsequent vertebral fracture were evaluated. We used Cox regression analysis to evaluate the risk of vertebral fracture among patients with a depressive disorder. The total number of patients with and without a depressive disorder was 44,812. The incidence risk ratio (IRR) between these 2 cohorts indicated that depressive disorder patients had a higher risk of developing a subsequent vertebral fracture (IRR=1.41, 95% confidence interval [CI]=1.26-1.57, pdepressive disorder cohort showed a higher risk of vertebral fracture than the comparison cohort (adjusted hazard ratio=1.24, 95% CI=1.11-1.38, pdepressive disorders. Depressive disorders may increase the risk of a subsequent new-onset vertebral fracture.
Filliter, Jillian H; Longard, Julie; Lawrence, Michael A; Zwaigenbaum, Lonnie; Brian, Jessica; Garon, Nancy; Smith, Isabel M; Roncadin, Caroline; Roberts, Wendy; Bryson, Susan E
Research on the expression of positive affect in young children with Autism Spectrum Disorder (ASD) suggests that differences in this domain emerge late in the first year or early in the second year. However, many previous studies in this area employed retrospective research methods and global rating schemes. In the current study, the expression of positive affect was examined prospectively at ages 6, 12, and 18 months in three groups: infant siblings with ASD, infant siblings without ASD, and low-risk comparison infants. Infant siblings were the younger brothers or sisters of children diagnosed with ASD and, therefore, had a higher familial risk of ASD. The frequency and duration of smiles were coded from video excerpts from the Autism Observation Scale for Infants (Bryson, Zwaigenbaum, McDermott, Rombough, and Brian 2008), a standardized, play-based assessment of early signs of ASD. Results indicated that at 12 months, infant siblings with ASD had a lower rate of smiling than the other two groups. At 18 months, infant siblings with ASD continued to display a lower rate of smiling than infant siblings without ASD, but not comparison infants. Overall, these results indicate that infant siblings with ASD demonstrate less positive affect than infant siblings without ASD and low-risk comparison infants at 12 months. This suggests that reduced smiling may be an informative behavioural risk marker for ASD by children's first birthdays and may have implications for our understanding of atypical social development in children with ASD.
Kornstein, Susan G; Keck, Paul E; Herman, Barry K; Puhl, Rebecca M; Wilfley, Denise E; DiMarco, Ilyse D
Physician-patient conversations were examined to identify barriers to effective discussions about binge eating disorder (BED) arising from discrepancies in how physicians and patients communicate about BED. Conversations between suspected or diagnosed BED patients (n = 38) and psychiatrists (n = 11) were recorded and the transcripts were reviewed for BED-related lexical terms using automated conversation analysis software. Researchers disambiguated multivalent terms and combined similar terms. The results showed that psychiatrists evaluated some diagnostic criteria (e.g., the absence of compensatory behavior) but not others (e.g., eating more rapidly than normal), focused more on symptoms in relation to weight and generally discussed weight-related issues more often than did patients, and asked about the type of food consumed more often than the diagnostic criterion related to the quantity of food consumed. In contrast, patients used terminology that attempted to clarify the relationships between feelings, coping strategies, and compulsion to binge eat when discussing binge eating episodes. These findings suggest that educational materials promoting more effective physician-patient dialogues regarding eating behaviors in general, and BED specifically, may be beneficial. Conversations should highlight the BED diagnostic criteria, assessment of patients' emotions and sense of lack of control, and relationships between body weight and BED.
Zand, Debra H; Bultas, Margaret W; McMillin, Stephen Edward; Halloran, Donna; White, Taryn; McNamara, Donnamarie; Pierce, Katherine J
Disruptive behaviors can be of comparable or greater concern to parents than the core symptoms of Autism Spectrum Disorder (ASD). Provision of effective interventions to address these behaviors within the first year of initial diagnosis holds great potential for improving the child's, parents', and family's functioning. We piloted a four-session, manualized, positive parenting program on 21 parents of newly diagnosed children ages 2 through 12 years using a mixed methods design. Seventy-five percent of parents completed four sessions, with 100% reporting high levels of service satisfaction. Preliminary results indicated clinically and statistically significant reductions in child maladaptive behaviors, as well as improvements in parental and family functioning. Practitioners and parents identified several potential implementation adaptations, including additional sessions to focus on ASD education and real-time parent-child interactions. Taken as a whole, these data suggest that a brief positive parenting intervention may be a feasible way to improve child, parent, and family functioning during the first year of ASD diagnosis. Findings point to the need for additional research to determine treatment efficacy and to assist with the identification of moderators and mediators of effects. © 2017 Family Process Institute.
Huri, Meral; Şahin, Sedef; Kayıhan, Hülya
The present study was designed to compare hand function in autistic children with history of upper extremity trauma with that of autistic children those who do not have history of trauma. The study group included total of 65 children diagnosed with autism spectrum disorder (ASD) and was divided into 2 groups: children with trauma history (Group I) and control group (Group II) (Group I: n=28; Group II: n=37). Hand function was evaluated with 9-Hole Peg Test and Jebsen Hand Function Test. Somatosensory function was evaluated using somatosensory subtests of Sensory Integration and Praxis Test. Results were analyzed with Student's t-test and Mann-Whitney U test using SPSS version 20 software. Hand function and somatosensory perception test scores were statistically significantly better in children without upper extremity trauma history (pAutistic children with upper extremity trauma history had poor somatosensory perception and hand function. It is important to raise awareness among emergency service staff and inform them about strong relationship between somatosensory perception, hand function, and upper extremity trauma in children with ASD in order to develop appropriate rehabilitation process and prevent further trauma.
Victoria Schindler, Ph.D.
Full Text Available Background: Obtaining a college degree is a positive and often necessary step to adulthood, independence, and knowledge. Students diagnosed with Asperger’s Disorder (AD typically experience difficulty in college, especially in the transition to college. To assist students with AD in the transition to college, an occupational therapy mentoring program was developed in a college setting. This article describes this program, provides quantitative and qualitative outcomes of the program, and uses the outcomes to determine factors to facilitate a successful transition. Method: A mixed methods design with quantitative and qualitative components was used. The quantitative measures included the Canadian Occupational Performance Measure (COPM and data on college retention, and the qualitative measure consisted of in-depth progress note documentation throughout the program. Results: Eleven participants met criteria for the study. There was a statistically significant difference between COPM pretest and posttest scores on performance (p. = .000 and satisfaction (p. = .000. Nine of the 11 students confirmed college retention. Three themes regarding college transition included (a maladaptive patterns linked to the characteristics of AD, (b adaptive patterns linked to the characteristics of AD, and (c parental influences. Implications for positive transition are proposed based on the findings. Conclusion: Students with AD can succeed in college, especially with a combination of internal characteristics and external supports.
Wolraich, Mark L; Lambert, E Warren; Bickman, Leonard; Simmons, Tonya; Doffing, Melissa A; Worley, Kim A
This study examines the impact of interrater reliability on the diagnosis of attention-deficit hyperactivity disorder (ADHD). A screening of 6171 elementary school children identified 1573 children with a high risk for ADHD according to teacher rating. Follow-up parent interviews and information from teachers were collected on 243 children. Before screening, health care professionals had diagnosed ADHD in 40% of the identified children. There was low agreement between the parent and teacher reports of ADHD symptoms according to DSM-IV-based questionnaires: Inattentive (r =.34, kappa = 0.27), Hyperactive/Impulsive (r =.27, kappa = 0.22), and Performance Impairment (r =.31, kappa = 0.07). When the two-setting requirement was strictly enforced, poor interrater agreement decreased diagnostic rates for all three types of ADHD in this clinical sample: Inattentive (15%-5%), Hyperactive/Impulsive (11%-3%), and Combined (23%-7%). Parent and teacher agreement was low concerning ADHD symptoms and performance. The recommendation of multiple informants significantly decreased the prevalence. Allowing for observer disagreement by using more lenient core symptom scores could reduce the effect.
Dillenburger, Karola; Keenan, Mickey; Doherty, Alvin; Byrne, Tony; Gallagher, Stephen
Having a child diagnosed with Autism Spectrum Disorder (ASD) poses a range of challenges to families, many of which can be addressed through appropriate intervention. A study of parental (n = 95) and professional (n = 67) experiences was carried out in relation to two settings: (a) schools that provided intensive interventions based on the science…
Laloyaux, Julien; Pellegrini, Nadia; Mourad, Haitham; Bertrand, Hervé; Domken, Marc-André; Van der Linden, Martial; Larøi, Frank
Persons diagnosed with bipolar disorder often suffer from cognitive impairments. However, little is known concerning how these cognitive deficits impact their real world functioning. We developed a computerized real-life activity task, where participants are required to shop for a list of grocery store items. Twenty one individuals diagnosed with bipolar disorder and 21 matched healthy controls were administered the computerized shopping task. Moreover, the patient group was assessed with a battery of cognitive tests and clinical scales. Performance on the shopping task significantly differentiated patients and healthy controls for two variables: Total time to complete the shopping task and Mean time spent to consult the shopping list. Moreover, in the patient group, performance on these variables from the shopping task correlated significantly with cognitive functioning (i.e. processing speed, verbal episodic memory, planning, cognitive flexibility, and inhibition) and with clinical variables including duration of illness and real world functioning. Finally, variables from the shopping task were found to significantly explain 41% of real world functioning of patients diagnosed with bipolar disorder. These findings suggest that the shopping task provides a good indication of real world functioning and cognitive functioning of persons diagnosed with bipolar disorder. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Meurs, Maaike; Roest, Annelieke M.; Wolffenbuttel, Bruce H. R.; Stolk, Ronald P.; de Jonge, Peter; Rosmalen, Judith G. M.
Objective To compare the odds of depressive and anxiety disorders for participants with diagnosed diabetes, participants with diabetes but unaware of this, and participants without diabetes. Such knowledge might improve etiological insight into psychopathology in diabetes. Methods Data of 90,686
Gilderthorp, Rosanna C.
This study aimed to critically review all studies that have set out to evaluate the use of eye movement desensitization and reprocessing (EMDR) for people diagnosed with both intellectual disability (ID) and post-traumatic stress disorder (PTSD). Searches of the online databases Psych Info, The Cochrane Database of Systematic Reviews, The Cochrane…
Santelmann, Hanno; Franklin, Jeremy; Bußhoff, Jana; Baethge, Christopher
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.
Sealy, Julie; Glovinsky, Ira P
This randomized controlled trial examined the reflective functioning capacities of caregivers who have a child with a neurodevelopmental disorder between the ages of 2 years 0 months and 6 years 11 months. Children with a neurodevelopmental disorder receive a range of diagnoses, including sutism; however, they all exhibit social communication challenges that can derail social relationships. Forty parent-child dyads in Barbados were randomly assigned to either a developmental individual-difference, relationship-based/floortime(DIR/FT) group (n = 20), or a psychoeducational (wait-list) group (n = 20) with parental reflective functioning measured before and after a 12-week DIR/FT treatment intervention. Results revealed significant gains in parental reflective functioning in the treatment group, as compared to the psychoeducational (wait-list) group, after the 12-week relationship-focused intervention. © 2016 Michigan Association for Infant Mental Health.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn, Patrick R; Barnett, Sarah S; Zimmermann, Michael T; Cousin, Margot A; Kaiwar, Charu; Pinto E Vairo, Filippo; Niu, Zhiyv; Ferber, Matthew J; Urrutia, Raul A; Selcen, Duygu; Klee, Eric W; Pichurin, Pavel N
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, we generated a homology-based atomic model and performed molecular dynamics simulations for EBF3, which predicted decreased DNA affinity for p.(Arg163Trp) compared with wild-type protein and control variants. These data are in agreement with previous experimental studies of EBF1 showing the paralogous residue is essential for DNA binding. The conservation and experimental evidence existing for EBF1 and in silico modeling and dynamics simulations to validate comparable behavior of multiple variants in EBF3 demonstrates strong support for the pathogenicity of p.(Arg163Trp). We show that our patient presents with phenotypes consistent with previously reported patients harboring EBF3 variants and expands the phenotypic spectrum of this newly identified disorder with the additional feature of a bicornuate uterus.
Blood serum concentrations of kynurenic acid in patients diagnosed with recurrent depressive disorder, depression in bipolar disorder, and schizoaffective disorder treated with electroconvulsive therapy.
Olajossy, Marcin; Olajossy, Bartosz; Wnuk, Sebastian; Potembska, Emilia; Urbańska, Ewa
The aim of the present study was to compare blood serum kynurenic acid (KYNA) concentrations measured before ECT and after 1, 6 and 12 electroconvulsive treatment (ECT) sessions in patients with diagnoses of recurrent depressive disorder (RDD), depression in bipolar disorder (DBD) and schizoaffective disorder (SAD). The study group comprised of 50 patients with ICD-10 diagnoses of RDD, DBD and SAD. Blood serum KYNA concentrations were determined and clinical assessment was performed using the MADRS and the GAF scale. Significant differences were found in blood serum KYNA levels between RDD, DBD and SAD patients treated with electroconvulsive therapy and healthy controls: 1) KYNA concentrations in DBD patients measured before ECT and after 12 ECT sessions were significantly lower than in the control group; 2) KYNA concentrations in the serum of RDD patients measured before ECT and after one and 12 ECT sessions were significantly lower than in the control group, while those measured after 6 ECT session did not differ significantly from KYNA concentrations in healthy controls; 3) higher pre-treatment blood serum concentrations of KYNA in DBD patients correlated with a higher number of illness phases and poorer general functioning before treatment; 4) significant relationships were found between higher blood serum concentrations of KYNA in RDD patients after 1 ECT session and male gender, and between higher KYNA concentrations after 6 ECT sessions and increased depression and poorer functioning before treatment in those patients. Results show that KYNA concentrations in all diagnostic groups were lower before ECT (not statistically significant for the SAD group) and that there were no significant changes in those concentrations (compared with the baseline) during ECT.
Batinic, Borjanka; Opacic, Goran; Ignjatov, Tijana; Baldwin, David S
Comorbidity of anxiety and depression (both current and lifetime) is associated with greater chronicity and an increased risk of suicidality. We wished to ascertain which symptom clusters had the strongest association with suicidality. Our aims were (1) to examine the presence of current comorbidity and suicidality in patients diagnosed with panic disorder/agoraphobia (PD/A) and major depression (MD), and their relationship with duration of psychiatric treatment and frequency of hospital admission; and (2) to examine which coexisting symptoms were most strongly predictive of suicidality in sub-groups and the overall group. The study sample comprised 100 patients with PD/A and MD. The following assessment instruments were applied: the Panic and Agoraphobia Scale, the Beck Anxiety Inventory, the Beck Depression Inventory-II, the Beck Scale for Suicide Ideation, the Obsessive-Compulsive Inventory-Revised, the Liebowitz Social Anxiety Scale and the Whiteley Index of Hypochondriasis. High rates of current comorbidity were seen in both groups. Patients with MD had significantly higher suicidality scores, but were also older, with a longer duration of psychiatric treatment and more frequent hospitalizations. In the overall group, psychiatric comorbidity was correlated with duration of psychiatric treatment and frequency of hospitalizations (with the exception of hypochondriasis which was not correlated with frequency of hospitalization). In both sub-groups and the overall group, suicidality was correlated with scores for all examined comorbidity (with the exception of hypochondriasis in the PD/A group): however, after multiple regression only obsessive-compulsive symptomatology predicted suicidality in all sub-groups and the overall group, as well as depression in the overall group. Depression supposed as dependent variable and obsessive-compulsive symptomatology as a mediator explained around 37% of the variance in suicidal ideation. Patients with PD/A or MD show high
Kable, Julie A; Mukherjee, Raja A S
Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE) was proposed as a diagnostic formulation intended to capture the range of mental health problems occurring in alcohol-affected individuals with a history of prenatal alcohol exposure. The proposed criteria for the disorder are reviewed as well as various factors considered in the development of the disorder and its associated criteria. The taxonomic research related to the disorder is reviewed with preliminary analyses indicating that clinicians are readily able to agree when applying the diagnostic criteria but that the adaptive functioning criteria may need to be modified to expand its coverage of alcohol-affected individuals and to aid in discriminating these individuals from others not alcohol-affected. Finally, the challenges with translating the diagnosis into European medical and mental healthcare systems are discussed and recommendations for facilitating implementation are made. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
Paterson, Amelia; Parker, Gordon; Fletcher, Kathryn; Graham, Rebecca
The aim of this study was to explore the views of women diagnosed with a mood disorder about children, medication and pregnancy. Female patients from the Black Dog Institute were invited to complete a questionnaire regarding their views about pregnancy, children and medication during pregnancy. Diagnostic groupings were derived by assessing DSM-IV criteria for mood disorders. Unipolar and bipolar patient responses were analysed to determine any differences between groups. Women with bipolar disorder were more concerned than those with a unipolar condition about the impact pregnancy would have on their mood, as well as the potential for their offspring to inherit a mood condition. Both groups of women expressed concerns regarding the child-rearing environment, and stated that knowing the risk their child could have of developing a mood disorder would encourage them to be more vigilant parents. While both groups were concerned about the environment in which they would raise their child and wanted to be vigilant parents, women diagnosed with a bipolar condition expressed stronger opinions regarding the impact that their pregnancy could have on their mood disorder, and passing the mood disorder onto their children.
Caci, Hervé M; Bouchez, Jacques; Baylé, Franck J
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects up to 4% of the adults in the general population. The Utah criteria were devised in the 1970s to help a retrospective diagnosis of ADHD during childhood, a necessary but not sufficient condition for diagnosing ADHD at adulthood. A sample of 466 adults was collected from a referral center and a large university. We investigated the psychometric properties (reliability and factor structure) of the original WURS-25 and the WURS-K, two shortened versions of the Wender Utah Rating Scale. These scales have similar psychometric properties; both have a 3-factor structure with only the first two factors highly and positively correlated. The third factor in the WURS-K, antisocial behavior, is less specific to the construct of ADHD than the third factor in the WURS-25, mood/self-esteem. The 18-item Adult ADHD Self-Rating Scale (ASRS) was used as a screening tool for actual ADHD. The composite total scores and the factorial scores correlated moderately with ASRS total and subscores. Research is warranted to assess the cutoff scores against a diagnosis of ADHD using a structured interview. 2010 Elsevier Inc. All rights reserved.
Stern, Francine Martin; Gorga, Delia
Use of neurodevelopmental treatment, also known as the Bobath method, is discussed, including its history, philosophy, goals, and treatment emphasis with infants and children with movement disorders. Examples of children before and after therapeutic intervention illustrate use of the technique, and controversies in measuring therapy efficacy are…
Polderman, Florens N.; Cohen, Joeri; Blom, Nico A.; Delhaas, Tammo; Helbing, Wim A.; Lam, Jan; Sobotka-Plojhar, Marta A.; Temmerman, Arno M.; Sreeram, Narayanswani
BACKGROUND: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. OBJECTIVE: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death
Polderman, F.N.; Cohen, Joeri; Blom, N.A.; Delhaas, T.; Helbing, W.A.; Lam, J.; Sobotka-Plojhar, M.A.; Temmerman, Arno M.; Sreeram, N.
Background: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. Objective: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death
Mazefsky, Carla A.; Oswald, Donald P.; Day, Taylor N.; Eack, Shaun M.; Minshew, Nancy J.; Lainhart, Janet E.
Varied presentations of emotion dysregulation in autism complicate diagnostic decision making and may lead to inaccurate psychiatric diagnoses or delayed autism diagnosis for high-functioning children. This pilot study aimed to determine the concordance between prior psychiatric diagnoses and the results of an autism-specific psychiatric interview…
Mouridsen, Svend Erik Birkebæk; Hauschild, K.M.
The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective...
Mouridsen, Svend Erik; Hauschild, Karen-Marie
The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective spectrum...
Sidiras, Chris; Iliadou, Vasiliki Vivian; Chermak, Gail D; Nimatoudis, Ioannis
Including speech recognition in noise testing in audiological evaluations may reveal functional hearing deficits that may otherwise remain undetected. The current study explored the potential utility of the Speech-in-Babble (SinB) test in the assessment of central auditory processing disorder (CAPD) in young children for whom diagnosis is challenging. A cross-sectional analysis. Forty-one Greek children 4-13 yr of age diagnosed with CAPD and exhibiting listening and academic problems (clinical group) and 20 age-matched controls with no listening or academic problems participated in the study. All participants' auditory processing was assessed using the same tests and instrumentation in a sound-treated room. Two equivalent lists of the SinB test, developed at the Psychoacoustic Laboratory of the Aristotle University of Thessaloniki, were administered monaurally in a counterbalanced order. SinB consists of lists of 50 phonetically balanced disyllabic words presented in background multitalker babble. Five signal-to-noise ratios (SNRs) were used in a fixed order. The children were instructed to repeat the word after each presentation. The SNR at which the child achieved 50% correct word identification served as the dependent variable or outcome measure, with higher SinB scores (measured in SNR dB) corresponding to poorer performance. SinB performance was better (lower SNR) for the normal control group versus the clinical group [F(1,35) = 43.03, p children with CAPD with and without comorbid conditions revealed no significant differences between groups [F(1,38) = 0.149, p > 0.05]. This study offers the first detailed presentation of the performance of Greek children on a Greek language SinB test. The main finding is that SinB scores improved as a function of age in a constant manner as represented by the slope of the linear regression line for both CAPD and control groups. Results suggest that this speech recognition in competition test holds promise for differentiating
A. V. Mordyk
Full Text Available The assessment of immunological indicators in 76 first time diagnosed infiltrative tuberculosis of lungs in socially safe patients prior to treatment and in 2 months of chemotherapy was carried out. It is revealed that immunological disorders are connected with efficiency of tuberculosis treatment . It can be criterion of quality of provided chemotherapy. The activation of cell immunity, stimulation of phagocytosis activity of neutrophils would contribute for effective treatment of tuberculosis.
Rohmani Nur Indah
This research focuses on the semantics acquisition of a child with language delay diagnosed as autistic spectrum disorder (ASD). The research problem is on how the child acquired the ability to comprehend meaning. It aims at answering the questions on how the child identified lexical meanings and how he labeled targeted lexicons of his first language. The approach employed in this research is descriptive qualitative to get adequate explanation on a specific language phenomenon, namely semanti...
Samuel, Douglas B; Sanislow, Charles A; Hopwood, Christopher J; Shea, M Tracie; Skodol, Andrew E; Morey, Leslie C; Ansell, Emily B; Markowitz, John C; Zanarini, Mary C; Grilo, Carlos M
Research has demonstrated poor agreement between clinician-assigned personality disorder (PD) diagnoses and those generated by self-report questionnaires and semistructured diagnostic interviews. No research has compared prospectively the predictive validity of these methods. We investigated the convergence of these 3 diagnostic methods and tested their relative and incremental validity in predicting independent, multimethod assessments of psychosocial functioning performed prospectively over 5 years. Participants were 320 patients in the Collaborative Longitudinal Personality Disorders Study diagnosed with PDs by therapist, self-report, and semistructured interview at baseline. We examined the relative incremental validity of therapists' naturalistic ratings relative to these other diagnostic methods for predicting psychosocial functioning at 5-year follow-up. Hierarchical linear regression analyses revealed that both the self-report questionnaire and semistructured interview PD diagnoses had significant incremental predictive validity over the PD diagnoses assigned by a treating clinician. Although, in some cases, the clinicians' ratings for individual PDs did have validity for predicting subsequent functioning, they did not generally provide incremental prediction beyond the other methods. These findings remained robust in a series of analyses restricted to a subsample of therapist ratings based on clinical contact of 1 year or greater. These results from a large clinical sample echo previous research documenting limited agreement between clinicians' naturalistic PD diagnoses and those from self-report and semistructured interview methods. They extend prior work by providing the first evidence about the relative predictive validity of these different methods. Our findings challenge the validity of naturalistic PD diagnoses and suggest the use of structured diagnostic instruments. PsycINFO Database Record (c) 2013 APA, all rights reserved.
García-Alandete, Joaquín; Ros, Montserrat Cañabate; Salvador, José Heliodoro Marco; Rodríguez, Sandra Pérez
The aim of this study was to analyze the psychometric properties of the Purpose-In-Life Test (PIL), as well as the age-related differences in meaning in life in women diagnosed with eating disorders. Participants were 250 Spanish women diagnosed with eating disorders who ranged from 12 to 60 years old. Confirmatory Factor Analysis, descriptive analyses, estimation of the internal consistency of the PIL, correlations between the PIL and the Beck Hopelessness Scale (BHS), Overweight Preoccupation Scale (OPS), and Body Investment Scale (BIS), and age differences were calculated. A 19-item model that showed a good fit and internal consistency, a negative correlation between the PIL and both the BHS and OPS, and a positive correlation with the BIS, as well as significant differences between the adolescents and the mature adults, were found. It would be advisable to increase the inclusion of meaning in life in psychotherapeutic interventions with women diagnosed with eating disorders. Copyright © 2017 Elsevier B.V. All rights reserved.
Autism is a developmental disorder with variable severity, occurring at all levels of cognitive ability and having a number of slightly different clinical presentations. It is associated with neuropsychological deficits that occur in other conditions also, but its pattern may be specific to autism. Genetic and environmental early insults to brain development are etiological determinants of the disorder. Brain circuitries important for social, communicative, and integrational purposes have been suggested to be dysfunctional in autism. There could be at least two different pathways to autism, one connected with primary temporofrontal dysfunction (and late prenatal-early postnatal origins) and another linked to primary brain-stem dysfunction (and early prenatal origins). Further study of neurodevelopmental and neuropsychological processes in autism will help elucidate not only the pathological mechanisms involved in the specific syndromes but also the underpinnings of normal brain development.
Anderson, Ariana E; Mansolf, Maxwell; Reise, Steven P; Savitz, Adam; Salvadore, Giacomo; Li, Qingqin; Bilder, Robert M
Although the Positive and Negative Syndrome Scale (PANSS) was developed for use in schizophrenia (SZ), antipsychotic drug trials use the PANSS to measure symptom change also for bipolar (BP) and schizoaffective (SA) disorder, extending beyond its original indications. If the dimensions measured by the PANSS are different across diagnoses, then the same score change for the same drug condition may have different meanings depending on which group is being studied. Here, we evaluated whether the factor structure in the PANSS was consistent across schizophrenia (n = 3647), bipolar disorder (n = 858), and schizoaffective disorder (n = 592). Along with congruency coefficients, Hancock's H, and Jaccard indices, we used target rotations and statistical tests of invariance based on confirmatory factor models. We found the five symptom dimensions measured by the 30-item PANSS did not generalize well to schizoaffective and bipolar disorders. A model based on an 18-item version of the PANSS generalized better across SZ and BP groups, but significant problems remained in generalizing some of the factors to the SA sample. Schizophrenia and bipolar disorder showed greater similarity in factor structure than did schizophrenia and schizoaffective disorder. The Anxiety/Depression factor was the most consistent across disorders, while the Positive factor was the least consistent. Copyright © 2017 Elsevier B.V. All rights reserved.
Santvoort, F. van; Hosman, C.M.H.; Janssens, J.M.A.M.; Doesum, K.T.M. van; Reupert, A.E.; Loon, L.M.A. van
Children of mentally ill parents are at high risk of developing problems themselves. They are often identified and approached as a homogeneous group, despite diversity in parental diagnoses. Some studies demonstrate evidence for transgenerational equifinality (children of parents with various
Huskamp, Haiden A; Samples, Hillary; Hadland, Scott E; McGinty, Emma E; Gibson, Teresa B; Goldman, Howard H; Busch, Susan H; Stuart, Elizabeth A; Barry, Colleen L
The Mental Health Parity and Addiction Equity Act (MHPAEA) was intended to eliminate differences in insurance coverage for mental health and substance use disorder services and medical-surgical care. No studies have examined mental health service use after federal parity implementation among individuals with diagnoses of eating disorders, for whom financial access to care has often been limited. This study examined whether MHPAEA implementation was associated with changes in use of mental health services and spending in this population. Using Truven Health MarketScan data from 2007 to 2012, this study examined trends in mental health spending and intensity of use of specific mental health services (inpatient days, total outpatient visits, psychotherapy visits, and medication management visits) among individuals ages 13-64 with a diagnosis of an eating disorder (N=27,594). MHPAEA implementation was associated with a small increase in total mental health spending ($1,271.92; pmental health visits among users, corresponding to an additional 5.8 visits on average during the first year (pmental health service use among individuals with diagnoses of eating disorders but no increase in out-of-pocket expenditures, suggesting improvements in financial protection.
Gradus, Jaimie L.; Qin, Ping; Lincoln, Alisa K; Miller, Matthew; Lawler, Elizabeth; Lash, Timothy L
Adjustment disorder is a diagnosis given following a significant psychosocial stressor from which an individual has difficulty recovering. The individual?s reaction to this event must exceed what would be observed among similar people experiencing the same stressor. Adjustment disorder is associated with suicidal ideation and suicide attempt. However the association between adjustment disorder and completed suicide has yet to be examined. The current study is a population-based case control s...
Full Text Available Background One of the most important issues to diagnose mental disorders is the use of independent tools with similar results. Documented history is an important tool to diagnose diseases at each stage. The first and fundamental step in diagnosis is a comprehensive clinical interview. Objectives The current study aimed to investigate the concordance of mental disorders diagnosed by psychiatrist’s clinical interviews and results of thematic apperception test (TAT conducted by psychologists. Methods It was a cross sectional descriptive-analytical study. The study population included the patients (male and female admitted in psychiatry section of Dr. Fatemi hospital in Ardabil, Iran, during 2009-2010. Data were collected from the archive of Ardebil Dr. Fatemi hospital and about 1200 patients were studied. Demographic data of participants including age, gender, marital status, admission date, discharge date and type of insurance were gathered from the recorded documents. The initial diagnosis of psychologist using TAT test was compared with the final diagnosis recorded for the patient attended by physicians. Data were analyzed using SPSS software, ver. 16. Results Out of 1,200 participants, 660 (55% were male and 540 (45% female; 150 (12.5% subjects were under 25 years old and 284 (23.66% were over 45 years old. Also, 650 subjects were illiterate and the rest were literate. The results of Chi-square test showed a significant difference between diagnoses of psychiatrist's clinical interviews with TAT results conducted by psychologists (P < 0.045. In spite of this difference, the results of TAT test were in relative concordance with psychiatrists' diagnoses for schizophrenia, depression, bipolar depression and anxiety disease. Conclusions The findings showed a relative concordance between psychiatric interviews and psychological assessments in the clinical diagnosis of mental illness.
Wilska, M L; Kaski, M K
One of the most important tasks of a physician who has patients with delayed development is to assess the cause of the problem. To help with this work, an aetiological classification based on timing and type of the injury to the central nervous system (CNS), has been created. The main divisions are: genetic causes; CNS malformations and multiple malformation syndromes of unknown origin; external prenatal factors; paranatally acquired disorders (-1 to +4 weeks from delivery); postnatally acquired disorders; and untraceable or unclassified causes. In the classification, the earliest factor injuring the CNS is the primary diagnosis. The first stage, which consists of a quite simple workup, reveals the timing of the injury and allows the possibility for family counselling. The overview of the second stage assessment is also given. The 'aetiological tree' illustrates the classification method and serves as a reference and teaching aid. It can also be used for genetic counselling to demonstrate the situation. This method has been used for almost 20 years and has been proven to enhance diagnostic activity and family counselling.
Scheen, Louise; Brandt, Lena; Bodén, Robert; Tiihonen, Jari; Andersen, Morten; Kieler, Helle; Reutfors, Johan
Treatment guidelines state that all patients with bipolar disorder should use pharmacological prophylaxis; however the actual use of prophylactic drugs after bipolar disorder diagnosis is unknown. Our aim was to assess the use of, and predictors for, pharmacoprophylaxis in newly diagnosed bipolar disorder patients. Data from three Swedish nationwide registers were obtained. We identified patients aged 18-75 with a first time diagnosis of bipolar disorder between 2006 and 2012 (n=31,770) and reviewed subsequent mood-stabilizer and antipsychotic prescription fills. In multivariable Cox regression models, we studied demographic and illness related factors as predictors of prescription fills after diagnosis. In total, 72.2% (95% confidence interval [CI] 71.7-72.7%) of the patients filled a prescription of a prophylactic drug within 3 months after diagnosis. Pharmacological prophylaxis was mainly associated with a longer duration of hospitalization at bipolar disorder diagnosis (adjusted hazard ratio [AHR] 2.18; CI 2.02-2.35 for a hospitalization of ≥28 days compared to <7 days) and previous use of any mood-stabilizer or antipsychotic (inpatients: AHR 1.24; CI 1.17-1.31 and outpatients: AHR 1.78; CI 1.73-1.84). We had no information on drug prescriptions that were never filled. The proportion of newly diagnosed bipolar disorder patients without pharmacological prophylaxis is substantial. Patients who are naïve to mood-stabilizers and antipsychotics and are hospitalized for a brief period at diagnosis are the ones least likely to initiate pharmacoprophylaxis, suggesting that this group deserves attention in order to improve the long term prognosis. Copyright © 2014 Elsevier B.V. All rights reserved.
Eric K. Cooper
Full Text Available Attention Deficit//Hyperactivity Disorder is a childhood disorder on the increase in the United States, and parents are searching for additional ways to help alleviate the symptoms associated with this disorder. One of the ways parents are looking to help with ADHD is through exercise programs, including the martial arts. As more of our students are diagnosed with ADHD, it is imperative we, as martial artists and teachers, understand the nature of this disorder. Therefore, this article is intended to educate those in the martial arts about ADHD. First, an introduction about ADHD, what it is and what it is not, is offered to demystify the disorder and to insure instructors are using appropriate language and terminology. Second, current research regarding the use of the martial arts as an intervention for ADHD will be discussed. Third, the issue of confidentiality related to psychological disorders will be discussed and suggestions offered to decrease the chances of instructors breaching confidentiality. Finally, some strategies for working with children with ADHD will be offered.
Ljubicic, Rudolf; Jakovac, Hrvoje; Bistrović, Ivana Ljubicić; Franceski, Tanja; Mufić, Ana Kovak; Karlović, Dalibor
The objective of the present study was to assess differences in prevalence of the metabolic syndrome among depressed patients in regard to the duration of the illness (first episode versus recurrent episodes). A total of 190 patients suffering from major depressive disorder were included in the study, diagnosed according to International classification of disorders, 10th revision. The same criteria were used to divide participants into two groups: first episode major depressive disorder and major depressive disorder with recurrent episodes. The metabolic syndrome was defined according to the criteria of the American National Cholesterol Education Program-Treatment Panel III. Results showed that metabolic syndrome is significantly more prevalent in patients with recurrent major depressive disorder (45.2%) compared to patients with first episode of major depressive disorder (27.3%), mainly due to differences in plasma glucose, triglycerides and HDL-cholesterol levels. These findings indicate the importance of the duration of depression and the number of recurring episodes as factors involved in etiopathogenesis of the associated metabolic syndrome.
Marinac, Julie V.; Harper, Laura
The aim of this article is to inform the diagnostic knowledge base for professionals working in the field of language disorders when classic symptoms, characteristics and sequences are not found. The information reveals the risk of diagnosis with a developmental language disorder (DLD) by default when no underlying cause can be readily identified.…
Boat, Barbara W.; Peterson, Gary
Describes reasons why therapists may hesitate to address the needs of children when treating parents with Dissociative Identity Disorder (DID) (formerly Multiple Personality Disorder). Summarizes the literature supporting assessment of these children, relates clinical observations on the potential impact of DID on children, and suggests…
Kent, Rachel G.; Carrington, Sarah J.; Le Couteur, Ann; Gould, Judith; Wing, Lorna; Maljaars, Jarymke; Noens, Ilse; Berckelaer-Onnes, Ina; Leekam, Susan R.
Background: Introduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD- 10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new…
Moree, Brittany N.; Davis, Thompson E., III
Anxiety disorders have been found to be highly comorbid with autism spectrum disorders (ASDs). Even so, the identification and dissemination of empirically supported treatments for anxiety in adults or children who have ASD has lagged behind the larger evidence-based trend. This review examines the efficacy of cognitive-behavioral therapy as a…
Mullins-Sweatt, Stephanie N; Bernstein, David P; Widiger, Thomas A
One of the official proposals for the fifth edition of the American Psychiatric Association's (APA) diagnostic manual (DSM-5) is to delete half of the existing personality disorders (i.e., dependent, histrionic, narcissistic, paranoid, and schizoid). Within the APA guidelines for DSM-5 decisions, it is stated that there should be expert consensus agreement for the deletion of a diagnostic category. Additionally, categories to be deleted should have low clinical utility and/or minimal evidence for validity. The current study surveyed members of two personality disorder associations (n = 146) with respect to the utility, validity, and status of each DSM-IV-TR personality disorder diagnosis. Findings indicated that the proposal to delete five of the personality disorders lacks consensus support within the personality disorder community.
Baker, Amanda L; Turner, Alyna; Kelly, Peter J; Spring, Bonnie; Callister, Robin; Collins, Clare E; Woodcock, Kathryn L; Kay-Lambkin, Frances J; Devir, Holly; Lewin, Terry J
The study objective was to evaluate the feasibility of a telephone delivered intervention consisting of motivational interviewing and cognitive behavioural strategies aimed at improving diet and physical activity in people diagnosed with psychotic disorders. Twenty participants diagnosed with a non-acute psychotic disorder were recruited. The intervention consisted of eight telephone delivered sessions targeting fruit and vegetable (F&V) consumption and leisure screen time, as well as smoking and alcohol use (as appropriate). F&V frequency and variety, and overall diet quality (measured by the Australian Recommended Food Score, ARFS), leisure screen time, overall sitting and walking time, smoking, alcohol consumption, mood, quality of life, and global functioning were examined before and 4-weeks post-treatment. Nineteen participants (95%) completed all intervention sessions, and 17 (85%) completed follow-up assessments. Significant increases from baseline to post-treatment were seen in ARFS fruit, vegetable and overall diet quality scores, quality of life and global functioning. Significant reductions in leisure screen time and overall sitting time were also seen. Results indicated that a telephone delivered intervention targeting key cardiovascular disease risk behaviours appears to be feasible and relatively effective in the short-term for people diagnosed with psychosis. A randomized controlled trial is warranted to replicate and extend these findings. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Knaster, Peter; Estlander, Ann-Mari; Karlsson, Hasse; Kaprio, Jaakko; Kalso, Eija
Diagnosing depression in chronic pain is challenging due to overlapping somatic symptoms. In questionnaires, such as the Beck Depression Inventory (BDI), responses may be influenced more by pain than by the severity of depression. In addition, previous studies have suggested that symptoms of negative self-image, a key element in depression, are uncommon in chronic pain-related depression. The object of this study is to assess the relationship of the somatic and cognitive-emotional items of BDI with the diagnosis of depression, pain intensity, and disability. One hundred consecutive chronic pain patients completed the Structured Clinical Interview for DSM Disorders (SCID) for the diagnosis of major depressive disorder (MDD) according to DSM-IV. Two subscales of BDI (negative view of self and somatic-physical function) were created according to the factor model presented by Morley. In the regression analysis, the somatic-physical function factor associated with MDD, while the negative view of self factor did not. Patients with MDD had higher scores in several of the BDI items when analysed separately. Insomnia and weight loss were not dependent on the depression diagnosis. The relatively small sample size and the selected patient sample limit the generalisability of the results. Somatic symptoms of depression are also common in chronic pain and should not be excluded when diagnosing depression in pain patients. Regardless of the assessment method, diagnosing depression in chronic pain remains a challenge and requires careful interpretation of symptoms.
Becker, Stephen P; Ramsey, Rachelle R; Byars, Kelly C
The Child Behavior Checklist (CBCL) is a commonly used measure of child and adolescent functioning, and a handful of items from the CBCL are often used to measure sleep functioning. The objective of this study was to examine the convergent, discriminant, and external validity of the individual CBCL sleep items and a CBCL sleep composite with validated measures of sleep functioning and youth adjustment as well as sleep disorder diagnoses. The participants were 383 youths (ages 6-18 years; 52.5% male; 80% non-Hispanic White) evaluated in a behavioral sleep medicine clinic. A sleep psychologist diagnosed sleep disorders following a comprehensive evaluation. Parents completed the CBCL in addition to the Children's Sleep Habits Questionnaire (CSHQ) and the Sleep Disorders Inventory for Students (SDIS). Adolescents completed the Adolescent Sleep-Wake Scale (ASWS). Individual CBCL sleep items were generally associated with sleep scales on validated sleep measures and with sleep disorder diagnoses. The CBCL sleep composite was associated with total scores on each of the sleep-specific measures, as well as with the CBCL attention, social, internalizing, and externalizing problems scales. Although the CBCL is inadequate for thoroughly assessing sleep problems and disorders, sleep items on the CBCL may be useful in epidemiological/archival studies that lack a more comprehensive sleep measure or to clinicians who do not use other validated sleep measures in their typical practice. Individual CBCL sleep items may be optimal when assessing specific facets of sleep functioning whereas the CBCL sleep composite may be optimal when examining overall sleep functioning and external correlates of sleep. Copyright © 2014 Elsevier B.V. All rights reserved.
Waszczuk, Monika A; Zimmerman, Mark; Ruggero, Camilo; Li, Kaiqiao; MacNamara, Annmarie; Weinberg, Anna; Hajcak, Greg; Watson, David; Kotov, Roman
Although practice guidelines are based on disorders specified in diagnostic manuals, such as the DSM, practitioners appear to follow symptoms when making treatment decisions. Psychiatric medication is generally prescribed in a transdiagnostic manner, further highlighting how symptoms, not diagnoses, often guide clinical practice. A quantitative approach to nosology promises to provide better guidance as it describes psychopathology dimensionally and its organization reflects patterns of covariation among symptoms. To investigate whether a quantitative classification of emotional disorders can account for naturalistic medication prescription patterns better than traditional diagnoses. Symptom dimensions and DSM diagnoses of emotional disorders, as well as prescribed medications, were assessed using interviews in a psychiatric outpatient sample (N=318, mean age 42.5years old, 59% female, 81% Caucasian). Each diagnosis was associated with prescription of multiple medication classes, and most medications were associated with multiple disorders. This was largely due to heterogeneity of clinical diagnoses, with narrow, homogenous dimensions underpinning diagnoses showing different medication profiles. Symptom dimensions predicted medication prescription better than DSM diagnoses, irrespective of whether this was examined broadly across all conditions, or focused on a specific disorder and medication indicated for it. Psychiatric medication was prescribed in line with symptoms rather than DSM diagnoses. A quantitative approach to nosology may better reflect treatment planning and be a more effective guide to pharmacotherapy than traditional diagnoses. This adds to a diverse body of evidence about superiority of the quantitative system in practical applications and highlights its potential to improve psychiatric care. Copyright © 2017 Elsevier Inc. All rights reserved.
Pasiali, Varvara; LaGasse, A Blythe; Penn, Saundra L
Given the effect of musical training on the rate and accuracy of processing auditory information, therapeutic uses of music may potentially have remedial benefits for individuals with neurodevelopmental deficits. However, additional studies are needed to establish efficacy of music therapy interventions for attention skills in children/adolescents with neurodevelopmental disabilities including those with Autism Spectrum Disorders (ASD). To establish feasibility and preliminary efficacy of a group music therapy protocol to improve attention skills (sustained, selective, attentional control/switching) in adolescents diagnosed with autism and/or developmental delays. This single group pretest/posttest study took place in a private school for high functioning adolescents with neurodevelopmental delays. Nine students (4 males, 5 females), ages 13 to 20, participated in the study. Autism severity was assessed using the CARS2-HF and indicated the following distribution for study participants: severe (n = 3), mild (n = 4), or minimal/no (n = 2) symptoms. We assessed feasibility of implementing a 45-min Musical Attention Control Training (MACT) intervention delivered by a board-certified music therapist eight times over 6 weeks in a school setting. We also examined preliminary efficacy of the MACT to improve attention skills using the Test of Everyday Attention for Children (TEA-Ch). Parental consent rate was 100%. All nine participants successfully completed testing measures and 6 weeks of the intervention. Average participation rate was 97%. Data analysis showed positive trends and improvements on measures of attentional control/switching and selective attention. The results showed that the intervention and testing measures were feasible to implement and acceptable to the participants who all completed the protocol. Data analysis demonstrated positive trends indicating that more research on the use of music therapy attention training in high-functioning adolescents with
Krpan, Katherine M; Kross, Ethan; Berman, Marc G; Deldin, Patricia J; Askren, Mary K; Jonides, John
The benefits of expressive writing have been well documented among several populations, but particularly among those who report feelings of dysphoria. It is not known, however, if those diagnosed with Major Depressive Disorder (MDD) would also benefit from expressive writing. Forty people diagnosed with current MDD by the Structured Clinical Interview for DSM-IV participated in the study. On day 1 of testing, participants completed a series of questionnaires and cognitive tasks. Participants were then randomly assigned to either an expressive writing condition in which they wrote for 20 min over three consecutive days about their deepest thoughts and feelings surrounding an emotional event (n=20), or to a control condition (n=20) in which they wrote about non-emotional daily events each day. On day 5 of testing, participants completed another series of questionnaires and cognitive measures. These measures were repeated again 4 weeks later. People diagnosed with MDD in the expressive writing condition showed significant decreases in depression scores (Beck Depression Inventory and Patient Health Questionnaire-9 scores) immediately after the experimental manipulation (Day 5). These benefits persisted at the 4-week follow-up. Self-selected sample. This is the first study to demonstrate the efficacy of expressive writing among people formally diagnosed with current MDD. These data suggest that expressive writing may be a useful supplement to existing interventions for depression. © 2013 Elsevier B.V. All rights reserved.
Graf, William D; Nagel, Saskia K; Epstein, Leon G; Miller, Geoffrey; Nass, Ruth; Larriviere, Dan
The use of prescription medication to augment cognitive or affective function in healthy persons-or neuroenhancement-is increasing in adult and pediatric populations. In children and adolescents, neuroenhancement appears to be increasing in parallel to the rising rates of attention-deficit disorder diagnoses and stimulant medication prescriptions, and the opportunities for medication diversion. Pediatric neuroenhancement remains a particularly unsettled and value-laden practice, often without appropriate goals or justification. Pediatric neuroenhancement presents its own ethical, social, legal, and developmental issues, including the fiduciary responsibility of physicians caring for children, the special integrity of the doctor-child-parent relationship, the vulnerability of children to various forms of coercion, distributive justice in school settings, and the moral obligation of physicians to prevent misuse of medication. Neurodevelopmental issues include the importance of evolving personal authenticity during childhood and adolescence, the emergence of individual decision-making capacities, and the process of developing autonomy. This Ethics, Law, and Humanities Committee position paper, endorsed by the American Academy of Neurology, Child Neurology Society, and American Neurological Association, focuses on various implications of pediatric neuroenhancement and outlines discussion points in responding to neuroenhancement requests from parents or adolescents. Based on currently available data and the balance of ethics issues reviewed in this position paper, neuroenhancement in legally and developmentally nonautonomous children and adolescents without a diagnosis of a neurologic disorder is not justifiable. In nearly autonomous adolescents, the fiduciary obligation of the physician may be weaker, but the prescription of neuroenhancements is inadvisable because of numerous social, developmental, and professional integrity issues.
Kelly, Sharon M; Gryczynski, Jan; Mitchell, Shannon Gwin; Kirk, Arethusa; O'Grady, Kevin E; Schwartz, Robert P
The recently published Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5) includes several major revisions to substance use diagnoses. Studies have evaluated the impact of these changes among adult samples but research with adolescent samples is lacking. 525 adolescents (93% African American) awaiting primary care appointments in Baltimore, Maryland were recruited for a study evaluating a substance use screening instrument. Participants were assessed for DSM-5 nicotine, alcohol, and cannabis use disorder, DSM-IV alcohol and cannabis abuse, and DSM-IV dependence for all three substances during the past year using the modified Composite International Diagnostic Interview-2, Substance Abuse Module. Contingency tables examining DSM-5 vs. DSM-IV joint frequency distributions were examined for each substance. Diagnoses were more prevalent using DSM-5 criteria compared with DSM-IV for nicotine (4.0% vs. 2.7%), alcohol (4.6% vs. 3.8%), and cannabis (10.7% vs. 8.2%). Cohen's κ, Somers' d, and Cramer's V ranged from 0.70 to 0.99 for all three substances. Of the adolescents categorized as "diagnostic orphans" under DSM-IV, 7/16 (43.8%), 9/29 (31.0%), and 13/36 (36.1%) met criteria for DSM-5 disorder for nicotine, alcohol, and cannabis, respectively. Additionally, 5/17 (29.4%) and 1/21 (4.8%) adolescents who met criteria for DSM-IV abuse did not meet criteria for a DSM-5 diagnosis for alcohol and cannabis, respectively. Categorizing adolescents using DSM-5 criteria may result in diagnostic net widening-particularly for cannabis use disorders-by capturing adolescents who were considered diagnostic orphans using DSM-IV criteria. Future research examining the validity of DSM-5 substance use disorders with larger and more diverse adolescent samples is needed. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Or, Flora; Torous, John; Onnela, Jukka-Pekka
This article evaluates the potential of smartphone audio data to monitor individuals recovering from mood disorders. A comprehensive literature review was conducted based on searches in 9 bibliographic databases. Seven articles were identified that used smartphone audio data to monitor participants with bipolar disorder from 4 to 14 weeks. The studies captured audio data in various contexts (e.g., in-person daily conversations, phone calls) and used common audio features (e.g., pitch and volume) to ascertain clinically relevant outcomes, including mood and social rhythm. Findings suggest that the utility of audio data in clinical and research contexts remains relatively unexplored and presents some challenges. For example, information on adherence and engagement among individuals recovering from bipolar disorder were often insufficient to gauge the generalizability of findings. Despite growing interest, additional research is required to confirm clinical utility of smartphone audio data for mood disorders. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
Verhoeven, F. E. A.; Swaab, L. S. M. A.; Carlier, I. V. E.; van Hemert, A. M.; Zitman, F. G.; Ruhé, H. G.; Schoevers, R. A.; Giltay, E. J.
Background: Standardized Diagnostic Interviews (SDIs) such as the Mini International Neuropsychiatric Interview (MINI) are widely used to systematically screen for psychiatric disorders in research. To support generalizability of results to clinical practice, we assessed agreement between the MINI
Palmer, Steven C.; Taggi, Alison; DeMichele, Angela; Coyne, James C.
BACKGROUND: A key purpose of routine distress screening is to ensure that cancer patients receive appropriate mental health care. Most studies validating screening instruments overestimate the effectiveness of screening by not differentiating between patients with untreated disorders and patients
Flament, Martine F; Buchholz, Annick; Henderson, Katherine; Obeid, Nicole; Maras, Danijela; Schubert, Nick; Paterniti, Sabrina; Goldfield, Gary
DSM-5 changes for eating disorders (EDs) aimed to reduce preponderance of non-specified cases and increase validity of specific diagnoses. The objectives were to estimate the combined effect of changes on prevalence of EDs in adolescents and examine validity of diagnostic groupings. A total of 3043 adolescents (1254 boys and 1789 girls, Mage = 14.19 years, SD = 1.61) completed self-report questionnaires including the Eating Disorder Diagnostic Scale. Prevalence of full-threshold EDs increased from 1.8% (DSM-IV) to 3.7% (DSM-5), with a higher prevalence of bulimia nervosa (1.6%) and the addition of the diagnosis of purging disorder (1.4%); prevalence of binge eating disorder was unchanged (0.5%), and non-specified cases decreased from 5.1% (DSM-IV) to 3.4% (DSM-5). Validation analyses demonstrated that DSM-5 ED subgroups better captured variance in psychopathology than DSM-IV subgroups. Findings extend results from previous prevalence and validation studies into the adolescent age range. Improved diagnostic categories should facilitate identification of EDs and indicate targeted treatments. Copyright © 2014 John Wiley & Sons, Ltd and Eating Disorders Association.
Full Text Available Psychological disorders have been proven to be associated with poor physiological, psychological and immune outcomes in cancer patients. However, despite of many challenges of the changed self-image/body image and the altered sexual/urinary function, relatively little is known about psychological disorders of patients with newly diagnosed bladder and kidney cancer. We aimed to investigate the prevalence of depression, anxiety, post-traumatic stress disorder (PTSD and the associated psychosocial factors among bladder/kidney cancer patients.A cross-sectional study was conducted of consecutive inpatients with bladder/kidney cancer in the First Affiliated Hospital of China Medical University in Liaoning Province, northeast China. A total of 489 early-stage cancer patients eligible for this study completed questionnaires on demographic and clinical variables, depression, anxiety, PTSD, perceived social support and positive psychological variables (hope, optimism and resilience anonymously during October 2013 and August 2014. Hierarchical regression analysis was used to examine the relationships between psychosocial resources and psychological disorders, while controlling for possible covariates.The prevalence of depression, anxiety and PTSD was 77.5%, 69.3% and 25.2%, respectively, while 24.9% of patients had psychological co-morbidity. Psychosocial resources together explained more than one-third of the variance on psychological disorders. Under standardized estimate (β sequence, patient's perception of social support from family was significantly associated with depression, anxiety and PTSD (p < 0.01. Optimism and resilience showed integrated and independent effects on psychological disorders, and hope represented the significant association with PTSD only (p < 0.01.The high prevalence of psychological disorders in newly diagnosed patients with early-stage bladder/kidney cancer should receive more attention in Chinese medical settings
Yang, Yi-Long; Liu, Li; Li, Meng-Yao; Shi, Meng; Wang, Lie
Psychological disorders have been proven to be associated with poor physiological, psychological and immune outcomes in cancer patients. However, despite of many challenges of the changed self-image/body image and the altered sexual/urinary function, relatively little is known about psychological disorders of patients with newly diagnosed bladder and kidney cancer. We aimed to investigate the prevalence of depression, anxiety, post-traumatic stress disorder (PTSD) and the associated psychosocial factors among bladder/kidney cancer patients. A cross-sectional study was conducted of consecutive inpatients with bladder/kidney cancer in the First Affiliated Hospital of China Medical University in Liaoning Province, northeast China. A total of 489 early-stage cancer patients eligible for this study completed questionnaires on demographic and clinical variables, depression, anxiety, PTSD, perceived social support and positive psychological variables (hope, optimism and resilience) anonymously during October 2013 and August 2014. Hierarchical regression analysis was used to examine the relationships between psychosocial resources and psychological disorders, while controlling for possible covariates. The prevalence of depression, anxiety and PTSD was 77.5%, 69.3% and 25.2%, respectively, while 24.9% of patients had psychological co-morbidity. Psychosocial resources together explained more than one-third of the variance on psychological disorders. Under standardized estimate (β) sequence, patient's perception of social support from family was significantly associated with depression, anxiety and PTSD (p resilience showed integrated and independent effects on psychological disorders, and hope represented the significant association with PTSD only (p patients with early-stage bladder/kidney cancer should receive more attention in Chinese medical settings. Additionally, in consideration of the different protective effects of psychosocial resources, the present study
Lehner, Małgorzata; Taracha, Ewa; Wisłowska, Aleksandra; Zienowicz, Małgorzata; Maciejak, Piotr; Skórzewska, Anna; Płaźnik, Adam
Schizophrenia is a complex disorder of unknown origin, characterised by abnormalities in the realms of perception, thinking and the experience of emotions that onset is restricted to young adulthood. Many techniques that range from neuropathology to neuroimaging identified subtle brain abnormalities particularly in frontal, temporal cortex, hippocampus, basal ganglia and cerebellum. Neurodevelopmental models of schizophrenia test hypotheses that this disease is caused by a defect in cerebral development which results in altered neural connectivity, brain neurochemistry and aberrant behaviour observed in adult life. Recent evidence indicates that neonatal hippocampal damage may affect prefrontal neuronal integrity. The developmental lesion model appears to have predictive validity because treatment with antipsychotic drugs normalises some abnormal behaviour changes. Therefore it will be a useful paradigm in the work on new therapies and in providing new insights about pathophysiology and etiology of schizophrenia.
Claudia Vlad; Coralia Bleotu; Veronica Lazǎr
The purpose of the study was to determine the dynamic of cytokinic pattern in patients with suspicion or diagnosed with autoimmune illnesses in different stages, and the potential of these biological assays as possible indicators in the diagnosis and the monitoring of these illnesses. The 41 patients were selected at the District Emergency Hospital and the Municipal Hospital of Ploiesti. Bioethics requirements were followed upon for patients selected for the study. The patients’ ages varied f...
Elizabeth B. Torres
Full Text Available Background: The approximate 5:1 male to female ratio in clinical detection of Autism Spectrum Disorder (ASD prevents research from characterizing the female phenotype. Current open access repositories [such as those in the Autism Brain Imaging Data Exchange (ABIDE I-II] contain large numbers of females to help begin providing a new characterization of females on the autistic spectrum. Here we introduce new methods to integrate data in a scale-free manner from continuous biophysical rhythms of the nervous systems and discrete (ordinal observational scores.Methods: New data-types derived from image-based involuntary head motions and personalized statistical platform were combined with a data-driven approach to unveil sub-groups within the female cohort. Further, to help refine the clinical DSM-based ASD vs. Asperger's Syndrome (AS criteria, distributional analyses of ordinal score data from Autism Diagnostic Observation Schedule (ADOS-based criteria were used on both the female and male phenotypes.Results: Separate clusters were automatically uncovered in the female cohort corresponding to differential levels of severity. Specifically, the AS-subgroup emerged as the most severely affected with an excess level of noise and randomness in the involuntary head micro-movements. Extending the methods to characterize males of ABIDE revealed ASD-males to be more affected than AS-males. A thorough study of ADOS-2 and ADOS-G scores provided confounding results regarding the ASD vs. AS male comparison, whereby the ADOS-2 rendered the AS-phenotype worse off than the ASD-phenotype, while ADOS-G flipped the results. Females with AS scored higher on severity than ASD-females in all ADOS test versions and their scores provided evidence for significantly higher severity than males. However, the statistical landscapes underlying female and male scores appeared disparate. As such, further interpretation of the ADOS data seems problematic, rather suggesting the
Storholm, Erik D.; Silverberg, Michael J.; Satre, Derek D.
Access to substance use disorder (SUD) treatment is a critical issue for women with HIV. This study examined differences in SUD diagnoses, comorbid psychiatric diagnoses, and predictors of SUD treatment initiation among a racial/ethnically diverse sample of HIV-positive women (N=228) and a demographically similar cohort of HIV-negative women (N=693). Diagnoses and service utilization data were obtained from electronic health records of members of a large integrated healthcare system in Northe...
Garcia, J; Wills, L
Diagnosing sleep disorders in children and adolescents is challenging and rewarding and requires integration of medical, neurodevelopmental, and behavioral histories. Most patients can be successfully treated once a thorough evaluation has been completed and age-appropriate differential diagnosis of common sleep disorders has been considered. With appropriate knowledge and tools, physicians may find that pediatric sleep disorders are some of the most treatable problems in medicine.
Full Text Available We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder.
Van Rheenen, Tamsyn E; Bryce, Shayden; Tan, Eric J; Neill, Erica; Gurvich, Caroline; Louise, Stephanie; Rossell, Susan L
Despite known overlaps in the pattern of cognitive impairments in individuals with bipolar disorder (BD), schizophrenia (SZ) and schizoaffective disorder (SZA), few studies have examined the extent to which cognitive performance validates traditional diagnostic boundaries in these groups. Individuals with SZ (n=49), schizoaffective disorder (n=33) and BD (n=35) completed a battery of cognitive tests measuring the domains of processing speed, immediate memory, semantic memory, learning, working memory, executive function and sustained attention. A discriminant functions analysis revealed a significant function comprising semantic memory, immediate memory and processing speed that maximally separated patients with SZ from those with BD. Initial classification scores on the basis of this function showed modest diagnostic accuracy, owing in part to the misclassification of SZA patients as having SZ. When SZA patients were removed from the model, a second cross-validated classifier yielded slightly improved diagnostic accuracy and a single function solution, of which semantic memory loaded most heavily. A cluster of non-executive cognitive processes appears to have some validity in mapping onto traditional nosological boundaries. However, since semantic memory performance was the primary driver of the discrimination between BD and SZ, it is possible that performance differences between the disorders in this cognitive domain in particular, index separate underlying aetiologies. Copyright © 2015 Elsevier B.V. All rights reserved.
Barnhill, Kelly; Ramirez, Lucas; Gutierrez, Alan; Richardson, Wendy; Marti, C. Nathan; Potts, Amy; Shearer, Rebeca; Schutte, Claire; Hewitson, Laura
This study compared bone mineral density (BMD) of the spine obtained by dual-energy X-ray absorptiometry (DEXA), nutritional status, biochemical markers, and gastrointestinal (GI) symptoms in 4-8 year old boys with Autism Spectrum Disorder (ASD) with a group of age-matched, healthy boys without ASD. Boys with ASD had significantly lower spine BMD…
Rubin, P; Holm, S; Madsen, P L
Regional cerebral blood flow distribution (rCBF) in 24 first admissions with schizophrenia or schizophreniform disorder and in 17 healthy volunteers was examined. Single photon emission computed tomography with a brain-retained tracer, technetium-99m-d,l-hexamethyl-propylene amine oxime, was used...
Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies
Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a
Subramaniapillai, Mehala; Carmona, Nicole E.; Rong, Carola; McIntyre, Roger S.
Mood disorders continue to be a significant burden to those affected, resulting in significant illness-associated disability and premature mortality. In addition to mood disturbance, individuals also suffer from other transdiagnostic impairments (eg, anhedonia and cognitive impairment). Although there have been significant advancements in psychiatric treatment over the last few decades, treatment efficacy (eg, symptom remission, lack of functional recovery, and disease modification) continues to be an important limitation. Consequently, there is an urgent need to identify novel approaches capable of addressing the foregoing needs, providing the basis for the exploration of conceptual models and treatment opportunities that consider inflammation to be a key factor in mood disorder development. In part driven by metabolic comorbidities, a large proportion of individuals with mood disorders also have an imbalance in the inflammatory milieu. The aim of this review is to highlight evidence implicating inflammation in various effector systems in mood disorders, with a particular focus on the intercommunication with glutamatergic signaling, immune system signaling, as well as metabolic parameters (eg, L-methyl folate bioavailability). This article also briefly reviews novel and repurposed agents that are capable of targeting the innate immune inflammatory system and possibly correcting an abnormal immune/inflammatory milieu (eg, infliximab). PMID:28566945
Shillingford-Butler, M. Ann; Theodore, Lea
The school setting can be a difficult place for children with attention deficit hyperactivity disorder (ADHD). The core symptoms of ADHD, which include inattention, hyperactivity, and impulsivity, make meeting the curriculum demands of the classroom challenging. That ADHD negatively impacts not only academic performance but also social and…
Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies
Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It…
Subramaniapillai, Mehala; Carmona, Nicole E; Rong, Carola; McIntyre, Roger S
Mood disorders continue to be a significant burden to those affected, resulting in significant illness-associated disability and premature mortality. In addition to mood disturbance, individuals also suffer from other transdiagnostic impairments (eg, anhedonia and cognitive impairment). Although there have been significant advancements in psychiatric treatment over the last few decades, treatment efficacy (eg, symptom remission, lack of functional recovery, and disease modification) continues to be an important limitation. Consequently, there is an urgent need to identify novel approaches capable of addressing the foregoing needs, providing the basis for the exploration of conceptual models and treatment opportunities that consider inflammation to be a key factor in mood disorder development. In part driven by metabolic comorbidities, a large proportion of individuals with mood disorders also have an imbalance in the inflammatory milieu. The aim of this review is to highlight evidence implicating inflammation in various effector systems in mood disorders, with a particular focus on the intercommunication with glutamatergic signaling, immune system signaling, as well as metabolic parameters (eg, L-methyl folate bioavailability). This article also briefly reviews novel and repurposed agents that are capable of targeting the innate immune inflammatory system and possibly correcting an abnormal immune/inflammatory milieu (eg, infliximab).
Cohrs, Austin C.; Leslie, Douglas L.
Previous studies showing that Autism Spectrum Disorder (ASD) in children can have secondary effects on the child's parents are limited by small sample sizes and parent self-report. We examined the odds of depression in parents of children with ASD compared to parents of children without ASD using a large national claims database. Mothers (OR 2.95,…
Full Text Available The paper presents a case of hypoglycemic paroxysm, manifested as epilepsy, in 53-year-old man, suffering from diabetes mellitus type 1, complicated by steatohepatosis following excretory and endocrine pancreatic insufficiency, disorders of renal excretory function, triggered by the lack of food after insulin administration.
Hogg, Daniel; Kingham, Simon; Wilson, Thomas M; Griffin, Edward; Ardagh, Michael
The 22nd February 2011 Christchurch earthquake killed 185 people, injured over 8000, damaged over 100,000 buildings and on-going aftershocks maintained high anxiety levels. This paper examines the dose of exposure effect of earthquake damage assessments, earthquake intensity measures, liquefaction and lateral spreading on mood and anxiety disorders in Christchurch after this event. We hypothesise that such disorders are more likely to develop in people who have experienced greater exposure to these impacts within their neighborhood than others who have been less exposed, but also live in the city. For this purpose, almost all clinically diagnosed incident and relapsed cases in Christchurch in a 12 months period after the 2011 earthquake were analysed. Spatio-temporal cluster analysis shows that people living in the widely affected central and eastern parts after the 2010/11 earthquakes have a 23% higher risk of developing a mood or anxiety disorder than people living in other parts of the city. Generally, mood and anxiety-related disorders increase with closer proximity to damage from liquefaction and moderate to major lateral spreading, as well as areas that are more likely to suffer from damage in future earthquakes. Copyright © 2014 Elsevier Ltd. All rights reserved.
Schnell, Thomas; Koethe, Dagmar; Krasnianski, Anna; Gairing, Stefanie; Schnell, Knut; Daumann, Jörg; Gouzoulis-Mayfrank, Euphrosyne
Clozapine is considered to be particularly effective in the treatment of dually diagnosed (DD) patients with psychosis and substance use disorders. However, its use is restricted by potentially severe side effects. The aim of the present pilot study was to compare the effects of clozapine with the newer second generation antipsychotic (SGA) ziprasidone in DD-patients. Thirty (n = 30) patients with schizophrenia and cannabis abuse/dependence were randomized to ziprasidone or clozapine and were followed up for up to 12 months. Cannabis use was reduced in both groups during follow-up. Clozapine treatment was associated with less positive symptoms of schizophrenia, more side effects and poorer compliance with treatment. Results from this small pilot RCT suggest beneficial effects of both clozapine and ziprasidone in the treatment of cannabis use disorders in psychotic patients. Larger-scale RCTs are needed in order to assess advantages and disadvantages of the different SGAs in dually diagnosed populations. © American Academy of Addiction Psychiatry.
Flament, Martine F; Henderson, Katherine; Buchholz, Annick; Obeid, Nicole; Nguyen, Hien N T; Birmingham, Meagan; Goldfield, Gary
To estimate jointly the point prevalence of weight and eating disorders in a community sample of adolescents; to investigate psychosocial correlates of thinness, overweight, and obesity, and of full- and subthreshold eating disorders (EDs); and to examine the relationships between weight status and prevalence of EDs. A total of 3,043 Canadian adolescents (1,254 males and 1,789 females; mean age = 14.19 years, SD = 1.61 years) completed self-report questionnaires, including the Eating Disorder Diagnostic Scale, and measures of psychosocial functioning. Objective weight and height were collected, and weight status was defined according to the International Obesity Task Force body mass index growth curve centiles. In all, 29.5% (95% CI = 26.7, 32.5) of males and 22.8% (95% CI = 20.5, 25.2) of females were overweight or obese. A total of 2.2% (95% CI = 1.5, 3.2) of males and 4.5% (95% CI = 4.4, 4.5) of females met DSM-5 criteria for an ED; in addition, 1.1% (95% CI = 0.7, 1.9) of males and 5.1% (95% CI = 4.0, 6.5) of females were identified with a subthreshold ED. Both full- and subthreshold EDs were significantly associated with markedly impaired psychosocial functioning. There was a significant relationship between prevalence of EDs and weight status, with an increased risk for a bulimic disorder in obese relative to normal-weight males (odds ratio [OR] = 7.86) and females (OR = 3.27). This study provides estimates for the prevalence of DSM-5 EDs in adolescents, further support for their impact on mental health, and new evidence for an association between bulimic disorders and obesity. Results call for an integrated approach in research and prevention regarding the whole spectrum of eating- and weight-related disorders. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Full Text Available Objective: In a variety of clinic studies, it has been shown that impulsivity is one of the core symptoms of Obsessive-compulsive disorder (OCD. The aim of the present study is comparing the impulsivity symptoms of adolescents who are diagnosed with OCD and their mothers with controls; family functioning is also evaluated. Method: The study group consisted of 31 cases (11-18 years old diagnosed with OCD. The control group (n=32 comprised patients of other clinics at hospital and was matched for gender and age to the OCD patients. Barrat Impusivity Scale 11 (BIS-11 was used for evaluaitng impulsivity symptoms in adolescents and their mothers. Family Assesssment Device (FAD was used to examine family functioning. Results:There was no significant difference between sociodemographic data of two groups. When cases and controls were compared with BIS-11; all subscales scores and total score of BIS-11were statistically significant higher in OCD group and also mothers of OCD group had statistically significant higher scores in total score of BIS-11 and subscales except motor impulsivity. Also in comparing the grups with FAD; OCD group had statistically significant higher scores in all subscales except affective responsiveness. Conclusion: OCD is an important chronic psychiatric disorder which affects functionality seriously. Cases diagnosed with OCD and their mothers have more impulsivity symptoms and these symptoms affects family functioning. Further studies are needed to examine genetic and enviromental common risk factors between OCD and impulsivity [JCBPR 2016; 5(2.000: 57-64
Nygaard, Mette Kathrine; Sonne, Charlotte Kærgaard; Carlsson, Jessica
BACKGROUND: A substantial amount of refugees (10-30%) suffer from Post-Traumatic Stress Disorder (PTSD). In Denmark there are different facilities specialised in psychiatric treatment of trauma-affected refugees. A previously published case report from such a facility in Denmark shows that some...... patients suffer from secondary psychotic symptoms alongside their PTSD. The aim of this study was to illustrate the characteristics and estimate the prevalence of psychotic features in a clinical population of trauma-affected refugees with PTSD. METHODS: Psychiatric records from 220 consecutive patients......-SP prevalence in a clinical refugee population with PTSD. The study points to the difficulties distinguishing psychotic features from flashbacks and the authors call for attention to psychotic features in PTSD patients in order to improve documentation and understanding of the disorder....
Full Text Available Background The present paper reports the results of research aimed at identifying intra-group differences among females suffering from different eating disorders (anorexia nervosa, bulimia nervosa or binge eating disorder in terms of the subjects’ psychological traits, adoption of socio-cultural norms (through media pressure, internationalization of norms, and exposure to information concerning body image standards, and the level of body dissatisfaction. The following research question was asked: is it possible to distinguish specific profiles of psychological characteristics, as well as levels of body dissatisfaction, social pressure, media exposure and internalization of common standards of body image? Participants and procedure The clinical population consisted of 121 females aged 20-26. The research was conducted in the years 2007-2012. The following research methods and procedures were applied: 1 a clinical interview, 2 the Contour Drawing Rating Scale, 3 the Eating Disorder Inventory (EDI, 4 a Polish translation of the Socio-cultural Attitudes Towards Appearance Questionnaire (SATAQ-3. Results Cluster analysis of the research data allowed four significantly different clusters to be distinguished in the group of 121 examined females suffering from eating disorders. In the next step, analysis of variance (the ANOVA test was used to compare the differences between the examined clusters in terms of the investigated variables and their indicators. Conclusions Due to significant differences between the examined females in terms of the strength levels and the configuration of psychological and socio-cultural variables investigated in the present study, the females were classified into four different psychological types referred to as neurotic, perfectionist, impulsive and adolescent-narcissistic.
Mayes, Susan D.
The smallest subset of items from the 30-item Checklist for Autism Spectrum Disorder (CASD) that differentiated 607 referred children (3-17 years) with and without autism with 100% accuracy was identified. This 6-item subset (CASD-Short Form) was cross-validated on an independent sample of 397 referred children (1-18 years) with and without autism…
Springham, N.; Camic, Paul M.
This article describes video-based observation of three mentalization-based treatment (MBT) art therapy groups in services for people who have received a diagnosis of personality disorder.Four focus groups (service user researchers, MBT trained psychologists, MBT trained art therapists, and the three art therapists who submitted videos) developed descriptions of the\\ud practice they observed on video. A grounded theory method was used to develop a proposition that if the art therapist uses ar...
Esteban-Vasallo, María D; Domínguez-Berjón, M Felicitas; Astray-Mochales, Jenaro; Gènova-Maleras, Ricard; Pérez-Sania, Aurelio; Sánchez-Perruca, Luis; Aguilera-Guzmán, Marta; González-Sanz, Francisco J
To estimate the prevalence rates of chronic disorders in immigrants and to compare them with those in the native population, based on electronic clinical records in primary care (ECRPC). We performed a descriptive cross-sectional study in patients aged 16 and over included in the Madrid Regional Public Health System. Age-adjusted prevalence rates for each sex and region were estimated on the basis of medically examined cases registered in the ECRPC with any new data entry made in 2005 or 2006. After age-adjustment, a total of 36.8% immigrants had some chronic health problem (vs. 55.3% natives). These disorders were more frequent among women and among the population from Africa and Latin America. The highest overall prevalence rates in the foreign population were allergy (10.2% crude rate), low-back pain (9.1%), chronic skin problems (6.8%) and mental disorders (6.4%). The prevalence rate of chronic disease is lower in the foreign population and differs according to sex and country of origin.
Full Text Available Background: The principle features of Attention deficit hyperactivity disorder (ADHD are hyperactivity, inattention and impulsivity. There is little evidence that confirms that Attention deficit hyperactivity disorder (ADHD is arising purely from child rearing methods or social factors.76 % of children with ADHD has a family history, and the similar cases can be seen in the family. The symptoms of more than 50 % of ADHD children will continue in adulthood which requires treatment. Most of the causes appear for ADHD are categorizing the condition in a group of neurobiological and genetic disorders. This does not mean to say that the influence of environmental factors on the severity of disorder, impairment and suffering the child may experience is nil, but those factors do not give rise to the condition by themselves. The chances of getting associated problems like Oppositional Defiant Disorder (ODD in children with ADHD is one-third to one-half and ODD is more common in boys with ADHD. These children are often non compliant, stubborn, defiant, have outbursts of temper, or become belligerent. Case description: This is a case report of a child who diagnosed as attention deficit hyper active disordered and Oppositional Defiant Disordered (ODD child, with finger contractures of right hand, which treated with medications, behavioral therapy, physiotherapy, relaxation techniques and music therapy as the means of rehabilitation. Outcome measures: The evaluation measures used are Nine-hole peg test, behavioral rating scale and a seven items temperament evaluation scale. Discussion: A holistic rehabilitation therapy increased attention, listening to suggestions, short stories and sleeping in time. Oppositional behaviors were also reduced both at home and school. Her relationships with parent, teachers and school mates were improved. Listening skills, attention, daily activities such as wake up, brushing, bathing, going to school in time were also
Panischev, Yu; Panischeva, S. N.; Demin, S. A.
Here we demonstrate a capability of method based on the Flicker-Noise Spectroscopy (FNS) in analyzing the manifestation bipolar affective disorder (BAD) in EEG. Generally EEG from BAD patient does not show the visual differences from healthy EEG. Analyzing the behavior of FNS-parameters and the structure of 3D-cross correlators allows to discover the differential characteristics of BAD. The cerebral cortex electric activity of BAD patients have a specific collective dynamics and configuration of the FNS-characteristics in comparison with healthy subjects.
DCD11 Congress Delegates
Full Text Available CD11 – Developmental coordination disorder and other neurodevelopmental disorders: a focus on comorbidity; Toulouse, France, July 2-4, 2015 Comorbidity refers to the presence of two or more disorders in the same person (especially DCD, dyslexia and attention deficit hyperactivity disorder in terms of developmental disorders. There has been growing interest in the presence of comorbidity in persons with neurodevelopmental disorders. Many recent studies suggest that up to half of all individuals diagnosed with a psychiatric or neurodevelopmental disorder have more than one condition. Comorbidity not only impacts patient outcomes but can also create a significant strain on both family and school life. It can also complicate diagnosis and healthcare organization. The 11th congress on DCD aimed to address some of the important issues surrounding comorbidity in neurodevelopmental disorders. Three main topics were covered during oral and poster presentations: (1 assessment and diagnostic criteria, (2 underlying processes, causal factors, and prognostic markers, and (3 intervention and management of DCD and associated disorders.
theory of principles and parameters, basically argue for a core syntactic module, the operations of which are con- ... explicit theories accounting for this (social interactive) perspective are still in the making. (i) Lesion ..... Disabilities in India: Willing the Mind to Learn (eds) P. Karanth and J Rozario (New Delhi: Sage) pp 62–76.
Richard E Frye
Full Text Available Tetrahydrobiopterin (BH4 is a naturally occurring cofactor essential for critical metabolic pathways. Studies suggest that BH4 supplementation may ameliorate autism symptoms; the biological mechanism for such an effect is unknown. To help understand the relation between central BH4 concentration and systemic metabolism and to develop a biomarker of central BH4 concentration, the relationship between cerebrospinal fluid BH4 concentration and serum amino acids was studied. BH4 concentration was found to be distributed in two groups, a lower and higher BH4 concentration group. Two serum amino acids, citrulline and methionine, differentiated these groups, and the ratio of serum citrulline-to-methionine was found to correlate with the cerebrospinal fluid BH4 concentration (r = -0.67, p < 0.05. Both citrulline and methionine are substrates in inflammation and oxidative stress pathways - two pathways that utilize BH4 and are abnormally activated in autism. These data suggests that central BH4 concentration may be related to systemic inflammation and oxidative stress pathways.
The article analyzes the importance of early care in child development, guiding a neuropsychological perspective of development. The early care model seeks to refer to the set of interventions aimed at children and their work in conjunction with a multidisciplinary team. It presents recommendations for the implementation of programs that allow…
Full Text Available The article analyzes the importance of early care in child development, guiding a neuropsychological perspective of development. The early care model seeks to refer to the set of interventions aimed at children and their work in conjunction with a multidisciplinary team. It presents recommendations for the implementation of programs that allow early intervention in the early years, so that the process of care for the affected children can be optimized by the different early developmental and learning alterations.
While musculoskeletal pain is common in the population, less is known about its labor market consequences in relation to physical activity at work. This study investigates whether hard physical work aggravates the consequences of back disorder. Using Cox regression analyses, we estimated the joint association of physical activity at work and physician-diagnosed back disorder in 2010 with the risk of register-based long-term sickness absence (LTSA) of at least 6 consecutive weeks during 2011-2012 among 9,544 employees from the general working population (Danish Work Environment Cohort Study). Control variables were age, gender, psychosocial work environment, smoking, leisure physical activity, BMI, depression, and mental health. At baseline, 19.4% experienced high low-back pain intensity (≥5, 0–9 scale) and 15.2% had diagnosed back disorder. While high pain intensity was a general predictor for LTSA, physician-diagnosed back disorder was a stronger predictor among those with hard physical work (HR 2.23; 95% CI 1.68–2.96) compared with light work (HR 1.40; 95% CI 1.09–1.80). Similarly, physician-diagnosed back disorder with simultaneous high pain intensity predicted LTSA to a greater extent among those with hard physical work. In conclusion, the occupational consequence of physician-diagnosed back disorder on LTSA is greater among employees with hard physical work. PMID:28255304
Koolwijk, Irene; Stein, David S; Chan, Eugenia; Powell, Christine; Driscoll, Katherine; Barbaresi, William J
Current recommendations for evaluation and diagnosis of attention-deficit hyperactivity disorder (ADHD) are meant for primary care settings and may not adequately address the needs of children seen in subspecialty developmental-behavioral pediatric settings who may have higher rates of comorbid developmental, learning, and psychiatric disorders. The authors sought to characterize the diagnostic complexity of school-aged children diagnosed with ADHD after comprehensive multidisciplinary evaluation in a subspecialty developmental-behavioral pediatric clinic. The authors conducted a retrospective medical record review of 144 patients aged 7 to 11 years who were consecutively evaluated by an interdisciplinary team (developmental-behavioral pediatrician, psychologist, educator) in a school-age clinic within a developmental-behavioral pediatrics tertiary care center from January 1, 2009 to December 31, 2009. After comprehensive evaluation, rates of ADHD diagnosis increased from 32.6% (n = 47) preevaluation to 54.2% (n = 78) postevaluation (p pediatric subspecialty setting, a comprehensive evaluation including developmental, neuropsychological, and educational assessments yielded high rates of comorbid psychiatric, developmental, and learning disorders. This supports the need to provide comprehensive interdisciplinary assessment for such children to ensure the identification and treatment of not only the core symptoms of ADHD but also the comorbidities that may otherwise go unrecognized and therefore not optimally treated.
Thongseiratch, Therdpong; Worachotekamjorn, Juthamas
This study compared the number of attention deficit hyperactivity disorder (ADHD) cases defined by Diagnostic and Statistical Manual (DSM)-IV versus DSM-V criterion in children who have learning or behavioral problems with high IQ. The medical records of children ≤15 years of age who presented with learning or behavioral problems and underwent a Wechsler Intelligence Scale for Children (WISC)-III IQ test at the Pediatric Outpatient Clinic unit between 2010 and 2015 were reviewed. Information on DSM-IV and DSM-V criteria for ADHD were derived from computer-based medical records. Twenty-eight children who had learning or behavioral problems were identified to have a full-scale IQ ≥120. Sixteen of these high-IQ children met the DSM-IV criteria diagnosis for ADHD. Applying the extension of the age-of-onset criterion from 7 to 12 years in DSM-V led to an increase of three cases, all of which were the inattentive type ADHD. Including the pervasive developmental disorder criterion led to an increase of one case. The total number of ADHD cases also increased from 16 to 20 in this group. The data supported the hypothesis that applying the extension of the age-of-onset ADHD criterion and enabling the diagnosis of children with pervasive developmental disorders will increase the number of ADHD diagnoses among children with high IQ. © The Author(s) 2016.
Lebedeva, Elena R; Kobzeva, Natalia R; Gilev, Denis
. RESULTS: The age-adjusted one-year prevalence of migraine in females was significantly higher (p students (41.9%) than in workers (19.2%) and blood donors (18.7%). Age-adjusted prevalence of migraine among males did not differ among the three groups: 4.5% in students, 4.9% in workers and 4.......5% in blood donors. Age-adjusted prevalence of tension-type headache (TTH) among females was almost the same in students and blood donors (68.8% and 66.7%) but female workers had a lower prevalence of TTH (57%). Age-adjusted prevalence of TTH among males did not differ significantly between students and blood......BACKGROUND: The aim of our study was to estimate the one-year prevalence of primary headache disorders in three different social groups using the third edition beta of the International Classification of Headache Disorders (ICHD-3 beta). MATERIAL AND METHODS: The study population included a total...
Rapoport, J L; Giedd, J N; Gogtay, N
... greatest potential to modify or extend, the neurodevelopmental model of schizophrenia. Longitudinal whole-population studies support a dimensional, rather than categorical, concept of psychosis...
Full Text Available Abstract The hereditary hyperferritinaemia-cataract syndrome (HHCS is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy, and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence.
Barnard-Brak, Lucy; Schmidt, Marcelo; Wei, Tianlan; Parker, Sonia L; Attai, Shanna L
We examined parental perceptions of academic performance and attainment of children with attention deficit hyperactivity disorder (ADHD) according to both parent and child gender along with the interaction of parent and child gender. The current study adds to the body of research by examining the perceptions of parents of children with ADHD according to both parent and child gender. The results indicate that fathers, on the whole, seemed less likely to consider ADHD to have negative academic implications for their children as compared with mothers. With regard to child gender, the fathers seemed less likely to consider ADHD to have negative academic implications for their sons over their daughters. The results suggest that interventions for parents of children with ADHD should be targeted to fathers with sons with ADHD.
School Counselors' Use of the Combination Social Stories™ and Video Modeling Intervention for Social Skills Development of Students Diagnosed with Autism Spectrum Disorders: A Qualitative Criticism of the Perceptions of Multidisciplinary Team Members
Cigrand, Dawnette Leigh
Autism Disorder and related disorders such as Asperger's Syndrome and Pervasive Developmental Disorder, Not Otherwise Specified, are collectively known as Autism Spectrum Disorders (ASD). These disorders are currently the fastest growing diagnosed disorders among children and have been found in 110 in 10,000 individuals. Individuals with ASD…
Chawarska, Katarzyna; Macari, Suzanne; Shic, Frederick
The ability to spontaneously attend to the social overtures and activities of others is essential for the development of social cognition and communication. This ability is critically impaired in toddlers with autism spectrum disorders (ASD); however, it is not clear if prodromal symptoms in this area are already present in the first year of life of those affected by the disorder. To examine whether 6-month-old infants later diagnosed with ASD exhibit atypical spontaneous social monitoring skills, visual responses of 67 infants at high-risk and 50 at low-risk for ASD were studied using an eye-tracking task. Based on their clinical presentation in the third year, infants were divided into those with ASD, those exhibiting atypical development, and those developing typically. Compared with the control groups, 6-month-old infants later diagnosed with ASD attended less to the social scene, and when they did look at the scene, they spent less time monitoring the actress in general and her face in particular. Limited attention to the actress and her activities was not accompanied by enhanced attention to objects. Prodromal symptoms of ASD at 6 months include a diminished ability to attend spontaneously to people and their activities. A limited attentional bias toward people early in development is likely to have a detrimental impact on the specialization of social brain networks and the emergence of social interaction patterns. Further investigation into its underlying mechanisms and role in psychopathology of ASD in the first year is warranted. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
Demirci, Kadir; Yildirim Baş, Funda; Arslan, Bahriye; Salman, Zeliha; Akpinar, Abdullah; Demirdaş, Arif
The aim of this study was to investigate symptoms and diagnoses of Adult-Attention Deficit/Hyperactivity Disorder (ADHD) in women with iron deficiency anemia, to evaluate relationship between ADHD with clinical features and to compare with the women without iron deficiency anemia. Eighty-three newly diagnosed iron deficiency anemia patients and 70 healthy controls were included in this study. All participants were assessed using a sociodemographic form, Structured Clinical Interview I (SCID-I), Wender Utah Rating Scale (WURS); Moreover, participants having WURS scores 36 and above were also assessed using the Adult ADD/ADHD Evaluation Scale and interviewed according to DSM-5 criteria. In the study, 22.9% of patients with iron deficiency anemia and 12.9% of healthy controls were found to have WURS scores 36 and above. Fifteen patients (18.1%) in iron deficiency anemia group and two patients (2.9%) in control group had adult ADHD, when they were evaluated with Adult ADD/ADHD Evaluation Scale and interviewed according to DSM-5 criteria (p=0.007). The patients with iron deficiency anemia had significantly higher WURS scores compared to controls (p=0.002). The levels of iron and ferritin had negative correlation (r=-0.166, p<0.05; r=-0.255, p<0.01, respectively) and the levels of serum iron binding capacity had positive correlation (r=0.255, p<0.01) with the scores of WURS. The prevalence of adult ADHD is higher than those reported for general population in patients with iron deficiency anemia. Early diagnose and treatment of adult ADHD may positively contribute to the patients with iron deficiency anemia.
Palermo, Mark T; Bogaerts, Stefan
Posthumous diagnoses are not uncommonly given to notorious public and historical figures by applying retrospectively, and typically in the absence of the individual being diagnosed, contemporary diagnostic criteria. Although this may be relatively easy and free of consequences when it concerns clear-cut medical conditions, it may have unintended repercussions in the case of psychiatric disorders by creating myths and perpetuating stigma. The case of serial killer Jeffrey Dahmer is a typical example where a somewhat facile and almost syllogistic application of perhaps over-inclusive criteria may have contributed to the legend of solitary murderers as possibly suffering from an autism spectrum condition. Although there may be an understandable human need to explain abominable and heinous behaviors, the lack of the possibility to verify a diagnostic theory and the ill-advised attempt to make a diagnosis fit may de facto be the basis of prejudice and profiling that do not correspond to clinical reality. Although there is no doubt that the brain is the organ of behavior, the authors caution against a budding neo-Lombrosian approach to crime and criminality and against the all too common use of widely differing terms in the study of deviance, such as crime, delinquency, and aggression, the operational use of which, often used interchangeably even in association studies, often erroneously leads to further confusion. © The Author(s) 2014.
Full Text Available Background: The time and frequency features of motor unit action potentials (MUAPs extracted from electromyographic (EMG signal provide discriminative information for diagnosis and treatment of neuromuscular disorders. However, the results of conventional automatic diagnosis methods using MUAP features is not convincing yet. Objective: The main goal in designing a MUAP characterization system is obtaining high classifcation accuracy to be used in clinical decision system. For this aim, in this study, a robust classifer is proposed to improve MUAP classifcation performance in estimating the class label (myopathic, neuropathic and normal of a given MUAP. Method: The proposed scheme employs both time and time–frequency features of a MUAP along with an ensemble of support vector machines (SVMs classifers in hybrid serial/parallel architecture. Time domain features includes phase, turn, peak to peak amplitude, area, and duration of the MUAP. Time–frequency features are discrete wavelet transform coeffcients of the MUAP. Results: Evaluation results of the developed system using EMG signals of 23 subjects (7 with myopathic, 8 with neuropathic and 8 with no diseases showed that the system estimated the class label of MUAPs extracted from these signals with average of accuracy of 91% which is at least 5% higher than the accuracy of two previously presented methods. Conclusion: Using different optimized subsets of features along with the presented hybrid classifer results in a classifcation accuracy that is encouraging to be used in clinical applications for MUAP characterization.
Quick, Jennifer Sue; Dobersen, Michael
A 17-year-old male adolescent sustained cardiac arrest after participating in a wrestling match, where he was thrown down. He had no pulse, and cardiopulmonary resuscitation was immediately initiated along with application of an automatic external defibrillator. Upon arrival of emergency medical services, an electrocardiogram showed the patient to be in ventricular tachycardia, torsades, and ventricular fibrillation. The patient was ultimately transported to the hospital and, with ACLS protocol being performed, was resuscitated to a junctional rhythm with bradycardia and borderline prolonged QT. His hospital stay was characterized by refractory cardiac failure, and 2 days after the incident, a decision was made to remove him from life support. At autopsy, there were no external or internal injuries that could be considered a contributing cause of death. On external examination, observations were made about the decedent's facial features including his nose, eyes, ears, fingers, and toes. A careful review of the decedent's medical history was initiated to reveal birth defects including syndactyly of the third and fourth digit of the upper extremity as well as complete lack of dental enamel. A tentative diagnosis of oculodentodigital dysplasia was made and confirmed by genetic testing of heart muscle taken from the decedent. This case report examines the rare association of oculodentodigital dysplasia with cardiac arrhythmia as well as places emphasis on the features of the disorder that can aid in its diagnosis.
Full Text Available Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively. In successful retrieval, the feeling of remembering may be accompanied by recall of important contextual information. On the other hand, when people fail (or struggle to retrieve information, other feelings, thoughts and information may come to mind. In this review, we examine the subjective and metacognitive basis of episodic memory function from a neurodevelopmental perspective, looking at recollection paradigms (such as source memory, and the report of recollective experience and metacognitive paradigms such as the feeling of knowing. We start by considering healthy development, and provide a brief review of the development of episodic memory, with a particular focus on the ability of children to report first-person experiences of remembering. We then consider neurodevelopmental disorders such as amnesia acquired in infancy, autism, Williams syndrome, Down syndrome or 22q11.2 deletion syndrome. This review shows that different episodic processes develop at different rates, and that across a broad set of different neurodevelopmental disorders there are various types of episodic memory impairment, each with possibly a different character. This literature is in agreement with the idea that episodic memory is a multifaceted process.
Hanford, Lindsay C; Sassi, Roberto B; Hall, Geoffrey B
Emotion labeling deficits have been posited as an endophenotype for bipolar disorder (BD) as they have been observed in both patients and their first-degree relatives. It remains unclear whether these deficits exist secondary to the development of psychiatric symptoms or whether they can be attributed to risk for psychopathology. To explore this, we investigated emotion processing in symptomatic and asymptomatic high-risk bipolar offspring (HRO) and healthy children of healthy parents (HCO). Symptomatic (n:18, age: 13.8 ± 2.6 years, 44% female) and asymptomatic (n:12, age: 12.8 ± 3.0 years, 42% female) HRO and age- and sex-matched HCO (n:20, age: 13.3 ± 2.5 years, 45% female) performed an emotion-labeling task. Total number of errors, emotion category and intensity of emotion error scores were compared. Correlations between total error scores and symptom severity were also investigated. Compared to HCO, both HRO groups made more errors on the adult face task (pcor=0.014). The HRO group were 2.3 times [90%CI:0.9-6.3] more likely and 4.3 times [90%CI:1.3-14.3] more likely to make errors on sad and angry faces, respectively. With the exception of sad face type errors, we observed no significant differences in error patterns between symptomatic and asymptomatic HRO, and no correlations between symptom severity and total number of errors. This study was cross-sectional in design, limiting our ability to infer trajectories or heritability of these deficits. This study provides further support for emotion labeling deficits as a candidate endophenotype for BD. Our study also suggests these deficits are not attributable to the presence of psychiatric symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.
Evrensel, Alper; Ünsalver, Barış Önen; Özşahin, Aytekin
Aggression is one of the leading clinical characteristics of antisocial personality disorder (APD). Studies aiming to clarify and control the biological basis of aggression are ongoing. Thyroid hormones have been indicated to play a role in the development of aggression. The aim of this study was to examine the level of aggression and serum thyroid hormone in a sample of APD and to make contributions to this field with the current findings. The sample consisted of 96 subjects with a diagnosis of APD and 97 subjects as a control group. Structured Clinical Interview for DSM-IV Axis (SCID) 1 and 2 were used for the diagnosis, and the Buss-Perry Aggression Questionnaire was administered. Based on criminal patterns, the APD group was then divided into two subgroups: "criminal" and "noncriminal" APD groups. The day after the interview, after one night of fasting, blood was collected from the subjects between 7:00 a.m. and 9:00 a.m.. Thyroid function tests and other biochemical analyses related to the confounding variables were also administered. The study group and the control group were compared in terms of their aggression scores and thyroid hormone levels. The mean score of free T3 level in the criminal APD group was found to be significantly higher than that in the noncriminal APD group. APD subjects with higher free T3 levels also had higher aggression scores. In the noncriminal APD group, as serum free T3 and T4 levels increased, there was also an increment in the aggression scores. However, in the criminal APD group, there was no significant correlation between thyroid hormone levels and aggression. The findings of this study indicated that criminal and noncriminal APD groups actually show different properties.
Paesani, D A; Lobbezoo, F; Gelos, C; Guarda-Nardini, L; Ahlberg, J; Manfredini, D
The present investigation was performed in a population of patients with temporomandibular disorders (TMD), and it was designed to assess the correlation between self-reported questionnaire-based bruxism diagnosis and a diagnosis based on history taking plus clinical examination. One-hundred-fifty-nine patients with TMD underwent an assessment including a questionnaire investigating five bruxism-related items (i.e. sleep grinding, sleep grinding referral by bed partner, sleep clenching, awake clenching, awake grinding) and an interview (i.e. oral history taking with specific focus on bruxism habits) plus a clinical examination to evaluate bruxism signs and symptoms. The correlation between findings of the questionnaire, viz., patients' report, and findings of the interview/oral history taking plus clinical examination, viz., clinicians' diagnosis, was assessed by means of φ coefficient. The highest correlations were achieved for the sleep grinding referral item (φ = 0·932) and for the awake clenching item (φ = 0·811), whilst lower correlation values were found for the other items (φ values ranging from 0·363 to 0·641). The percentage of disagreement between the two diagnostic approaches ranged between 1·8% and 18·2%. Within the limits of the present investigation, it can be suggested that a strong positive correlation between a self-reported and a clinically based approach to bruxism diagnosis can be achieved as for awake clenching, whilst lower levels of correlation were detected for sleep-time activities. © 2013 John Wiley & Sons Ltd.
Thomas, Jennifer J; Eddy, Kamryn T; Murray, Helen B; Tromp, Marilou D P; Hartmann, Andrea S; Stone, Melissa T; Levendusky, Philip G; Becker, Anne E
This study evaluated the relative distribution and inter-rater reliability of revised DSM-5 criteria for eating disorders in a residential treatment program. Consecutive adolescent and young adult females (N=150) admitted to a residential eating disorder treatment facility were assigned both DSM-IV and DSM-5 diagnoses by a clinician (n=14) via routine clinical interview and a research assessor (n=4) via structured interview. We compared the frequency of diagnostic assignments under each taxonomy and by type of assessor. We evaluated concordance between clinician and researcher assignment through inter-rater reliability kappa and percent agreement. Significantly fewer patients received either clinician or researcher diagnoses of a residual eating disorder under DSM-5 (clinician-12.0%; researcher-31.3%) versus DSM-IV (clinician-28.7%; researcher-59.3%), with the majority of reassigned DSM-IV residual cases reclassified as DSM-5 anorexia nervosa. Researcher and clinician diagnoses showed moderate inter-rater reliability under DSM-IV (κ=.48) and DSM-5 (κ=.57), though agreement for specific DSM-5 other specified feeding or eating disorder (OSFED) presentations was poor (κ=.05). DSM-5 revisions were associated with significantly less frequent residual eating disorder diagnoses, but not with reduced inter-rater reliability. Findings support specific dimensions of clinical utility for revised DSM-5 criteria for eating disorders. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Bay, Bjørn; Mortensen, Erik Lykke; Kesmodel, Ulrik Schiøler
To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception.......To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception....
Petry, Nancy M; Blanco, Carlos; Jin, Chelsea; Grant, Bridget F
The fifth edition of the Diagnostic and Statistic Manual for Mental Disorders (DSM-5) eliminates the committing illegal acts criterion and reduces the threshold for a diagnosis of gambling disorder to 4 of 9 criteria. This study compared the DSM-5 "4 of 9" classification system to the "5 of 10" DSM-IV system, as well as other permutations (i.e., just lowing the threshold to 4 criteria or just eliminating the illegal acts criterion) in 43,093 respondents to the National Epidemiological Survey of Alcohol and Related Conditions. Subgroups were analyzed to ascertain whether changes will impact differentially diagnoses based on gender, age, or race/ethnicity. In the full sample and each subpopulation, prevalence rates were higher when the DSM-5 classification system was employed relative to the DSM-IV system, but the hit rate between the two systems ranged from 99.80% to 99.96%. Across all gender, age, and racial/ethnic subgroups, specificity was greater than 99% when the DSM-5 system was employed relative to the DSM-IV system, and sensitivity was 100%. Results from this study suggest that eliminating the illegal acts criterion has little impact on diagnosis of gambling disorder, but lowering the threshold for diagnosis does increase the base rate in the general population and each subgroup, even though overall rates remain low and sensitivity and specificity are high.
Zlatic, Stephanie; Comstra, Heather Skye; Gokhale, Avanti; Petris, Michael J.; Faundez, Victor
ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes. The pathogenesis of these manifestations has been attributed to hypoactivity of a limited number of copper-dependent enzymes, a hypothesis that we refer as the oligoenzymatic pathogenic hypothesis. This hypothesis, which has dominated the field for 25 years, only explains some systemic Menkes phenotypes. However, we argue that this hypothesis does not fully account for the Menkes neurodegeneration or neurodevelopmental phenotypes. Here, we propose revisions of the oligoenzymatic hypothesis that could illuminate the pathogenesis of Menkes neurodegeneration and neurodevelopmental defects through unsuspected overlap with other neurological conditions including Parkinson’s, intellectual disability, and schizophrenia. PMID:25583185
Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.
Simacek, Jessica; Dimian, Adele F.; McComas, Jennifer J.
Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three…
Storholm, Erik David; Silverberg, Michael J; Satre, Derek D
Access to substance use disorder (SUD) treatment is a critical issue for women with HIV. This study examined differences in SUD diagnoses, comorbid psychiatric diagnoses, and predictors of SUD treatment initiation among a diverse sample of HIV-positive women (n = 228) and a demographically similar cohort of HIV-negative women (n = 693). Diagnoses and service utilization data were obtained from electronic health records of members of a large integrated healthcare system in Northern California. HIV-positive women were less likely to initiate SUD treatment. Significant racial/ethnic differences were found among both HIV-positive and HIV-negative women with respect to SUD diagnosis type and diagnosis of comorbid psychiatric disorders. Among the HIV-negative women, rates of SUD treatment initiation were lower for black women than for white or Latina women. Multivariable logistic regression models showed that alcohol, cannabis, and opiate diagnoses were predictive of SUD treatment initiation for both cohorts, while amphetamine diagnoses, comorbid depressive disorder, and being white or Latina were predictive of SUD treatment initiation for HIV-negative, but not HIV-positive, women. Findings suggest that clinicians need to be aware of differences in substances of abuse, comorbid psychiatric disorders, and to consider the demographic and social factors that may contribute to differences in SUD treatment initiation among HIV-positive and HIV-negative women.
Thyroid disorders in patients with newly diagnosed rheumatoid arthritis is associated with poor initial treatment response evaluated by disease activity score in 28 joints-C-reactive protein (DAS28-CRP)
Emamifar, Amir; Hangaard, Jørgen; Jensen Hansen, Inger Marie
To determine the prevalence of thyroid disorders among newly diagnosed rheumatoid arthritis (RA) patients and evaluate the association between clinical characteristics of RA and thyroid disorders, and also initial treatment response in the RA patients with thyroid disorders.Newly diagnosed, adult...
Full Text Available IntroductionA reliable and accurate evaluation of oral-motor skills in newborns at risk for swallowing and feeding disorders is key to set the goals of effective early interventions. Although many tools are available to assess oral-motor skills in newborns, limited evidence exists for what pertains their reliability and their effectivity in predicting short- and long-term developmental outcomes in at-risk infants. The aim of the present study is to develop and provide a preliminary validation of a new clinically grounded tool [i.e., the Functional Evaluation of Eating Difficulties Scale (FEEDS] specifically designed to be used with at-risk newborns and infants. The paper describes the steps of tool development and information on the reliability of the tool are provided.Methods/analysisThe FEEDS has been developed according to clinical evidence and expertise by a multidisciplinary team of professionals dealing with feeding problems in at-risk infants diagnosed with neurodevelopmental impairments and disabilities. The steps of FEEDS development are reported, together with a detailed description of items, scoring procedure, and clinical cutoff. The FEEDS has been applied to a relatively large sample of 0- to 12-month-old infants (N = 136 with neurodevelopmental disability, enrolled consecutively between 2004 and 2016 at the Scientific Institute IRCCS Eugenio Medea (Bosisio Parini, Italy, which is the main rehabilitation hospital for children with neurodevelopmental disabilities in Italy. Internal consistency (Cronbach’s alpha and reliability (inter-rater agreement have been assessed.Ethics and disseminationAll the procedures are consistent with the World Medical Association Declaration of Helsinki (2013 and the FEEDS has been approved by the clinical committee of the Scientific Institute IRCCS Eugenio Medea. Further psychometric characteristics and evidence of the predictive validity of the FEEDS will be obtained on a larger sample and they
Cavallini, Anna; Provenzi, Livio; Sacchi, Daniela; Longoni, Laura; Borgatti, Renato
A reliable and accurate evaluation of oral-motor skills in newborns at risk for swallowing and feeding disorders is key to set the goals of effective early interventions. Although many tools are available to assess oral-motor skills in newborns, limited evidence exists for what pertains their reliability and their effectivity in predicting short- and long-term developmental outcomes in at-risk infants. The aim of the present study is to develop and provide a preliminary validation of a new clinically grounded tool [i.e., the Functional Evaluation of Eating Difficulties Scale (FEEDS)] specifically designed to be used with at-risk newborns and infants. The paper describes the steps of tool development and information on the reliability of the tool are provided. The FEEDS has been developed according to clinical evidence and expertise by a multidisciplinary team of professionals dealing with feeding problems in at-risk infants diagnosed with neurodevelopmental impairments and disabilities. The steps of FEEDS development are reported, together with a detailed description of items, scoring procedure, and clinical cutoff. The FEEDS has been applied to a relatively large sample of 0- to 12-month-old infants ( N = 136) with neurodevelopmental disability, enrolled consecutively between 2004 and 2016 at the Scientific Institute IRCCS Eugenio Medea (Bosisio Parini, Italy), which is the main rehabilitation hospital for children with neurodevelopmental disabilities in Italy. Internal consistency (Cronbach's alpha) and reliability (inter-rater agreement) have been assessed. All the procedures are consistent with the World Medical Association Declaration of Helsinki (2013) and the FEEDS has been approved by the clinical committee of the Scientific Institute IRCCS Eugenio Medea. Further psychometric characteristics and evidence of the predictive validity of the FEEDS will be obtained on a larger sample and they will be reported in future publications from this group.
Kemal Utku Yazici
Full Text Available When a literature review on pediatric obsessive-compulsive disorder (OCD is performed, it is observed that there is a dearth of research on preschool period OCD cases. Although cognitive behavioral therapy is recommended as the first line of treatment in preschool OCD cases when patients do not show adequate response to CBT, psychopharmacological treatment offers an alternative. The first line used in psychopharmacological treatment is selective serotonin reuptake inhibitors (SSRI’s. However, no SSRI’s (or any other drug group have been approved by the FDA for this age group. Moreover, studies related to psychopharmacology in preschool OCD are very limited in the literature, consisting mostly of case reports related to sertraline and fluoxetine. In those studies, it is reported that sertraline and fluoxetine are effective in preschool OCD and generally well-tolerated. In this paper, we discussed the treatment and six-month follow-up period of a 3.5 year-old (42 months female diagnosed with OCD and for whom escitalopram was used. In the literature, there is a retrospective case series related to this subject consisting of eleven cases, where improvement in symptoms is reported with escitalopram treatment in the five of six cases diagnosed with OCD. As far as we could find in literature, our paper is the second report on this subject. Our case also included the youngest patient to receive escitalopram for preschool period OCD and report its benefits.
Full Text Available Abstract Background Amnioreduction remains a treatment option for pregnancies with twin-to-twin transfusion syndrome (TTTS not meeting criteria for laser surgery or those in which it is not feasible. Amnioreduction is a relatively simple treatment which does not require sophisticated technical equipment. Previous reports of conservative management have indicated that major neurodevelopmental impairment occurs in 14.3-26% of survivors. The purpose of this study was to investigate long-term neurodevelopmental outcome in conservatively treated TTTS. Methods During the nine-year study period from January 1996 to December 2004, all pregnancies with TTTS who were admitted to our center were investigated. TTTS was diagnosed by using standard prenatal ultrasound criteria, and staged according to the criteria of Quintero et al. We reviewed gestational age at diagnosis, gestational age at delivery, the stage of TTTS at diagnosis, and diagnosis to delivery interval. Neonatal cranial ultrasound findings were reviewed and the neurodevelopmental outcomes were evaluated. Results Twenty-one pregnancies with TTTS were included. Thirteen pregnancies (62% were treated with serial amnioreduction. The mean gestational age at delivery was 28 weeks (22 - 34 weeks. The perinatal mortality rate was 42.9%. Twenty survivors were followed up until at least 3 years of age. The mean age at follow-up was 6.3 years (3 - 12 years. Six children (30% had neurodevelopmental impairment. Four children (20% had major neurodevelopmental impairment and two children (10% had minor neurodevelopmental impairment. Children with neurodevelopmental impairment were delivered before 29 weeks of gestation. Conclusions Our study showed a high rate of perinatal mortality and a high rate of major neurodevelopmental impairment in conservatively treated TTTS. The long-term outcomes for the survivors with TTTS were good when survivors were delivered after 29 weeks of gestation.
Warnell, F; George, B; McConachie, H; Johnson, M; Hardy, R; Parr, J R
(1) Describe how the Autism Spectrum Database-UK (ASD-UK) was established; (2) investigate the representativeness of the first 1000 children and families who participated, compared to those who chose not to; (3) investigate the reliability of the parent-reported Autism Spectrum Disorder (ASD) diagnoses, and present evidence about the validity of diagnoses, that is, whether children recruited actually have an ASD; (4) present evidence about the representativeness of the ASD-UK children and families, by comparing their characteristics with the first 1000 children and families from the regional Database of children with ASD living in the North East (Dasl(n)e), and children and families identified from epidemiological studies. Recruitment through a network of 50 UK child health teams and self-referral. Parents/carers with a child with ASD, aged 2-16 years, completed questionnaires about ASD and some gave professionals' reports about their children. 1000 families registered with ASD-UK in 30 months. Children of families who participated, and of the 208 who chose not to, were found to be very similar on: gender ratio, year of birth, ASD diagnosis and social deprivation score. The reliability of parent-reported ASD diagnoses of children was very high when compared with clinical reports (over 96%); no database child without ASD was identified. A comparison of gender, ASD diagnosis, age at diagnosis, school placement, learning disability, and deprivation score of children and families from ASD-UK with 1084 children and families from Dasl(n)e, and families from population studies, showed that ASD-UK families are representative of families of children with ASD overall. ASD-UK includes families providing parent-reported data about their child and family, who appear to be broadly representative of UK children with ASD. Families continue to join the databases and more than 3000 families can now be contacted by researchers about UK autism research. Published by the BMJ
Salley, Brenda; Gabrielli, Joy; Smith, Catherine M; Braun, Matthew
Given the well-documented symptom overlap between Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), careful evaluation of potential differentiation and overlap is critical for accurate diagnostic decisions. Although research has considered the use of symptom checklists and parent/teacher report questionnaires for symptom differentiation, standardized observational methods, typically utilized in the context of ASD evaluation, have received less attention. The present study examined the continuum of communication and social interaction impairment for youth diagnosed with ASD and ADHD, as indexed by the Autism Diagnostic Observation Schedule (ADOS). Participants were 209 youth ages 3 to 18 years with ASD, ADHD, Dual Diagnosis (ASD+ADHD) or No Diagnosis. Differences across diagnostic groups were observed for mean communication and social interaction total scores on the ADOS, with the highest scores (i.e., greater impairment) observed for the ASD group and lowest scores for the ADHD and No Diagnosis groups. Results provide the first evidence for use of the ADOS for distinguishing youth who have ADHD alone versus ASD alone or co-occurring ASD+ADHD. Findings are discussed in light of implications for clinical practice and future research.
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This discussion paper reviews the health impacts, physical and mental, of domestic violence and explores the link between domestic violence and psychological symptoms. This paper focuses more on posttraumatic stress disorder (PTSD) than depression and low self-esteem because doctors are less familiar with PTSD. The barriers preventing health workers from detecting domestic violence are reviewed and the fear of health professionals that asking about trauma can harm patients is explored. The article then outlines practical strategies to improve detection of domestic violence using patients' presenting psychological symptoms and the diagnoses frequently associated with domestic violence namely, PTSD, depression and low self-esteem. It is argued that it is inadvisable to try to implement a policy of screening for domestic violence in general practice when the public health model is currently inappropriate. The paper discusses why the diagnostic frameworks of depression and PTSD are helpful in general practice, not only in detecting domestic violence but in working with the patient to establish trust and ways forward that can be tailored to meet the needs of the patient and their children. Patients' and professionals' dilemmas about what to do once domestic violence is detected are briefly explored.
South, Mikle; Dana, Julianne; White, Sarah E.; Crowley, Michael J.
Understanding hetereogeneity in symptom expression across the autism spectrum disorders (ASD) is a major challenge for identifying causes and effective treatments. In 40 children and adolescents diagnosed with ASD and 37 IQ--and age-matched comparison participants (the TYP group), we found no differences in summary measures on an experimental…
van Daalen, Emma; Kemner, Chantal; Dietz, Claudine; Swinkels, Sophie H. N.; Buitelaar, Jan K.; van Engeland, Herman
To examine the inter-rater reliability and stability of autism spectrum disorder (ASD) diagnoses made at a very early age in children identified through a screening procedure around 14 months of age. In a prospective design, preschoolers were recruited from a screening study for ASD. The inter-rater
Weissinger, Kristen M.
This study investigated some of the underlying factors that may relate to and predict the reading comprehension of children in fourth through eighth grade (N = 47). A subset of these children previously had been diagnosed with autism spectrum disorders (ASD; n = 10); the remainder are classified as typically-developing (n = 37). The participants…
Lee, Amy; Kiemle, Gundi
Background: This study examines the experiences of qualified nurses working with individuals diagnosed with both intellectual disability and personality disorder (PD) in a medium-secure forensic intellectual disability setting. Potential training needs are highlighted, as well as other ways in which services could better support staff to work…
Helgadóttir, Halla; Gudmundsson, Ólafur Ó; Baldursson, Gísli; Magnússon, Páll; Blin, Nicolas; Brynjólfsdóttir, Berglind; Emilsdóttir, Ásdís; Gudmundsdóttir, Gudrún B; Lorange, Málfrídur; Newman, Paula K; Jóhannesson, Gísli H; Johnsen, Kristinn
The aim of this study was to develop and test, for the first time, a multivariate diagnostic classifier of attention deficit hyperactivity disorder (ADHD) based on EEG coherence measures and chronological age. The participants were recruited in two specialised centres and three schools in Reykjavik. The data are from a large cross-sectional cohort of 310 patients with ADHD and 351 controls, covering an age range from 5.8 to 14 years. ADHD was diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders fourth edition (DSM-IV) criteria using the K-SADS-PL semistructured interview. Participants in the control group were reported to be free of any mental or developmental disorders by their parents and had a score of less than 1.5 SDs above the age-appropriate norm on the ADHD Rating Scale-IV. Other than moderate or severe intellectual disability, no additional exclusion criteria were applied in order that the cohort reflected the typical cross section of patients with ADHD. Diagnostic classifiers were developed using statistical pattern recognition for the entire age range and for specific age ranges and were tested using cross-validation and by application to a separate cohort of recordings not used in the development process. The age-specific classification approach was more accurate (76% accuracy in the independent test cohort; 81% cross-validation accuracy) than the age-independent version (76%; 73%). Chronological age was found to be an important classification feature. The novel application of EEG-based classification methods presented here can offer significant benefit to the clinician by improving both the accuracy of initial diagnosis and ongoing monitoring of children and adolescents with ADHD. The most accurate possible diagnosis at a single point in time can be obtained by the age-specific classifiers, but the age-independent classifiers are also useful as they enable longitudinal monitoring of brain function. Published by the BMJ
Wakschlag, Lauren S; Perlman, Susan B; Blair, R James; Leibenluft, Ellen; Briggs-Gowan, Margaret J; Pine, Daniel S
The arrival of the Journal's 175th anniversary occurs at a time of recent advances in research, providing an ideal opportunity to present a neurodevelopmental roadmap for understanding, preventing, and treating psychiatric disorders. Such a roadmap is particularly relevant for early-childhood-onset neurodevelopmental conditions, which emerge when experience-dependent neuroplasticity is at its peak. Employing a novel developmental specification approach, this review places recent neurodevelopmental research on early childhood disruptive behavior within the historical context of the Journal. The authors highlight irritability and callous behavior as two core exemplars of early disruptive behavior. Both phenotypes can be reliably differentiated from normative variation as early as the first years of life. Both link to discrete pathophysiology: irritability with disruptions in prefrontal regulation of emotion, and callous behavior with abnormal fear processing. Each phenotype also possesses clinical and predictive utility. Based on a nomologic net of evidence, the authors conclude that early disruptive behavior is neurodevelopmental in nature and should be reclassified as an early-childhood-onset neurodevelopmental condition in DSM-5. Rapid translation from neurodevelopmental discovery to clinical application has transformative potential for psychiatric approaches of the millennium.
London, L.; Beseler, C.; Bouchard, M.F.; Bellinger, D.C.; Colosio, C.; Grandjean, P.; Harari, R.; Kootbodien, T.; Kromhout, H.|info:eu-repo/dai/nl/074385224; Little, F.; Meijster, T.; Moretto, A.; Rohlman, D.S.; Stallones, L.
The association between pesticide exposure and neurobehavioral and neurodevelopmental effects is an area of increasing concern. This symposium brought together participants to explore the neurotoxic effects of pesticides across the lifespan. Endpoints examined included neurobehavioral, affective and
London, Leslie; Beseler, Cheryl; Bouchard, Maryse F
The association between pesticide exposure and neurobehavioral and neurodevelopmental effects is an area of increasing concern. This symposium brought together participants to explore the neurotoxic effects of pesticides across the lifespan. Endpoints examined included neurobehavioral, affective ...
Tresidder, J; Fielder, A R; Nicholson, J
Delayed visual maturation (DVM) can present as an isolated anomaly (type 1A), but can be compounded by perinatal problems (type 1B), severe neurodevelopmental delay (type 2), or ocular anomalies/nystagmus (type 3), in which group the common feature appears to be nystagmus. The neurodevelopmental and ophthalmic aspects of 26 infants with DVM were studied. Onset of visual improvement, rate of acquisition of normal vision and eventual outcome were studied quantitatively, using an adaptation of the acuity card procedure. Neurodevelopmental assessment was performed after visual improvement. The results support the long-held clinical impression that if blindness is the presenting feature, neurodevelopmental outlook is excellent. DVM could represent a defect in the extrageniculostriate visual system, and the onset of vision in all types--and the development of nystagmus in type 3--could herald the emergence of geniculostriate function.
Gjevik, Elen; Sandstad, Berit; Andreassen, Ole A.; Myhre, Anne M.; Sponheim, Eili
Autism spectrum disorders are often comorbid with other psychiatric symptoms and disorders. However, identifying psychiatric comorbidity in children with autism spectrum disorders is challenging. We explored how a questionnaire, the Child Behavior Check List, agreed with a "Diagnostic and Statistical Manual of Mental Disorders-Fourth…
Full Text Available Antonio Carlos Farias,1–4 Mara L Cordeiro,1,2,5 Erico PG Felden,6 Tiago S Bara,1,2 Cássia R Benko,1,2 Daniele Coutinho,1,2 Leandra F Martins,2 Rosilda TC Ferreira,1,2 James T McCracken5 1Faculdades Pequeno Príncipe, 2Neurosciences Core, Pelé Pequeno Príncipe Research Institute, Curitiba, 3Department of Neuropediatrics, Children’s Hospital, Pequeno Príncipe, 4School of Medicine, University Positivo, Curitiba, Brazil; 5Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, US; 6Center for Health Science Research, Santa Catarina State University, Florianópolis, Brazil Background: Recent studies have suggested that children with attention-deficit hyperactivity disorder (ADHD may benefit from computerized cognitive training. Therapy implementation is especially complicated when ADHD is associated with learning disorders (LDs. This study tested the efficacy of a computer-based cognitive training program, namely, computerized cognitive training (CCT, in children with ADHD comorbid with an LD (ADHD-LD, with or without psychostimulant medication. Materials and methods: After diagnostic evaluations, 27 children with ADHD-LD (8 unmedicated and 19 medicated participated in CCT, which is intended to improve attention, memory, reasoning, visual processing, and executive functioning. The participants completed 24 1-hour sessions over 3 months. Neuropsychometric and standardized academic test results before and after training were compared to assess treatment efficacy. Shapiro–Wilk normality tests were applied, and subsequent Wilcoxon tests were used to identify significant differences in pre- versus post-training performance. Results: After CAT, children diagnosed with ADHD-LD showed 1 improvements in trained skills, measured directly within the software and indirectly by external psychometric tests; 2 improvements in
Palermo, M.T.; Bogaerts, S.
Posthumous diagnoses are not uncommonly given to notorious public and historical figures by applying retrospectively, and typically in the absence of the individual being diagnosed, contemporary diagnostic criteria. Although this may be relatively easy and free of consequences when it concerns
Full Text Available Abstract Background Experimental animal studies and one population-based study have suggested an increased risk for adverse neurodevelopmental outcome after prenatal exposure to SSRIs. We describe the methods and design of a population-based study examining the association between prenatal SSRI exposure and neurodevelopment until age 14. Methods and design This is a cohort study of national registers in Finland: the Medical Birth Register, the Register of Congenital Malformations, the Hospital Discharge Register including inpatient and outpatient data, the Drug Reimbursement Register, and the Population Register. The total study population includes 845,345 women and their live-born, singleton offspring aged 14 or younger and born during Jan 1st 1996-Dec 31st 2010. We will compare the prevalence of psychiatric and neurodevelopmental outcomes in offspring exposed prenatally to SSRIs to offspring exposed to prenatal depression and unexposed to SSRIs. Associations between exposure and outcome are assessed by statistical methods including specific modeling to account for correlated outcomes within families and differences in duration of follow-up between the exposure groups. Descriptive results. Of all pregnant women with pregnancy ending in delivery (n = 859,359, 1.9% used SSRIs. The prevalence of diagnosed depression and depression-related psychiatric disorders within one year before or during pregnancy was 1.7%. The cumulative incidence of registered psychiatric or neurodevelopmental disorders was 6.9% in 2010 among all offspring born during the study period (age range 0–14 years. Discussion The study has the potential for significant public health importance in providing information on prenatal exposure to SSRIs and long-term neurodevelopment.
Talkowski, Michael E.; Rosenfeld, Jill A.; Blumenthal, Ian
Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model f...
Klein, B; Damiani-Taraba, G; Koster, A; Campbell, J; Scholz, C
Children involved with child protection services (CPS) are diagnosed and treated for attention-deficit hyperactivity disorder (ADHD) at higher rates than the general population. Children with maltreatment histories are much more likely to have other factors contributing to behavioural and attentional regulation difficulties that may overlap with or mimic ADHD-like symptoms, including language and learning problems, post-traumatic stress disorder, attachment difficulties, mood disorders and anxiety disorders. A higher number of children in the child welfare system are diagnosed with ADHD and provided with psychotropic medications under a group care setting compared with family-based, foster care and kinship care settings. However, children's behavioural trajectories change over time while in care. A reassessment in the approach to ADHD-like symptoms in children exposed to confirmed (or suspected) maltreatment (e.g. neglect, abuse) is required. Diagnosis should be conducted within a multidisciplinary team and practice guidelines regarding ADHD diagnostic and management practices for children in CPS care are warranted both in the USA and in Canada. Increased education for caregivers, teachers and child welfare staff on the effects of maltreatment and often perplexing relationship with ADHD-like symptoms and co-morbid disorders is also necessary. Increased partnerships are needed to ensure the mental well-being of children with child protection involvement. © 2014 John Wiley & Sons Ltd.
Rohmani Nur Indah
Full Text Available This research focuses on the semantics acquisition of a child with language delay diagnosed as autistic spectrum disorder (ASD. The research problem is on how the child acquired the ability to comprehend meaning. It aims at answering the questions on how the child identified lexical meanings and how he labeled targeted lexicons of his first language. The approach employed in this research is descriptive qualitative to get adequate explanation on a specific language phenomenon, namely semantics acquisition. Its design is case study with the type neo-ethnographic. As the data collection method, it uses participant observation of longitudinal study considering that the research subject has familial relation with the researcher. The data analysis shows that the semantic acquisition of the research subject has complexity in vocabulary enrichment. The research subject often performs echolalic speech when he is asked to identify or label certain object given. The typical idiosyncratic speech is shown by the unique feature of limited syllable and prosody. In general, his ability to identify lexical meanings is far exceeding his ability to label objects. He also has sensitivity to perceive the non-verbal symbol performed by the people he knows well. The use of verbal language supported by non-verbal language facilitates his perception. He finds it difficult to comprehend the lexicons having similar sound as he assumes that one lexicon represents one object which typically belongs to concrete object. In addition, the ability of the research subject in labeling objects cannot be developed easily because of his difficulty in expressing ideas through words. To pronounce the words correctly, he shows high anxiety by lowering down his speech. In selecting the lexicon he also finds it hard to use pronoun, to label homonyms and to apply both polysemy and hyponym. Accordingly, he tends to communicate only to fulfill his needs by asking things, asking the
Geier David A.
Full Text Available A hypothesis testing, case-control study evaluated automated medical records for exposure to organic-Hg from Thimerosal-containing hepatitis B vaccines (TM-HepB administered at specific intervals in the first six-months-of-life among cases diagnosed with a tic disorder (TD or cerebral degeneration (CD (an outcome not biologically plausibly linked to TM exposure in comparison to controls; both cases and controls were continuously enrolled from birth (born from 1991–2000 within the Vaccine Safety Datalink (VSD database. TD cases were significantly more likely than controls to have received increased organic-Hg from TM-HepB administered within the first month-of-life (odds ratio (OR=1.59, p<0.00001, first two-months-of-life (OR=1.59, p<0.00001, and first six-months-of-life (OR=2.97, p<0.00001. Male TD cases were significantly more likely than male controls to have received increased organic-Hg from TM-HepB administered within the first month-of-life (OR =1.65, p<0.0001, first two-months-of-life (OR=1.64, p<0.0001, and first six months-of-life (OR=2.47, p<0.05, where as female TD were significantly more likely than female controls to have received increased organic-Hg from TM-HepB administered within the first six-months-of-life (OR=4.97, p<0.05. By contrast, CD cases were no more likely than controls to have received increased organic-Hg exposure from TM-HepB administered at any period studied within the first six-months-of-life. Although routine childhood vaccination is considered an important public health tool to combat infectious diseases, the present study associates increasing organic-Hg exposure from TM-HepB and the subsequent risk of a TD diagnosis.
Wong, Chui Mae; Koh, Hwan Cui
Diagnostic reports for 206 children who underwent an assessment for autism spectrum disorder (ASD) using the DSM-IV-TR criteria, were re-evaluated using the DSM-5 criteria. Mean age of the children at time of diagnosis was 3 years 10 months. Of the 202 children diagnosed with ASD on the DSM-IV-TR, 184 (91.1%) also met the DSM-5 criteria for ASD.…
van Iterson, L.; de Jong, P.F.; Zijlstra, B.J.H.
Introduction: In pediatric epilepsy, comorbidities are reported to be frequent. The present study focusedon the cognitive patterns of children with isolated epilepsy, children with isolated neurodevelopmental disorders (reading disorders, math disorders, autism spectrum disorders), and children with
Full Text Available Background. Over the last few decades, an increasing number of studies have suggested a connection between neurodevelopmental problems (NDPs and body mass index (BMI. Attention deficit/hyperactivity disorder (ADHD and autism spectrum disorders (ASD both seem to carry an increased risk for developing extreme BMI. However, the results are inconsistent, and there have been only a few studies of the general population of children.Aims. We had three aims with the present study: (1 to define the prevalence of extreme (low or high BMI in the group of children with ADHD and/or ASDs compared to the group of children without these NDPs; (2 to analyze whether extreme BMI is associated with the subdomains within the diagnostic categories