47 research outputs found

    Reproductive fitness and genetic risk of psychiatric disorders in the general population.

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    To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesThe persistence of common, heritable psychiatric disorders that reduce reproductive fitness is an evolutionary paradox. Here, we investigate the selection pressures on sequence variants that predispose to schizophrenia, autism, bipolar disorder, major depression and attention deficit hyperactivity disorder (ADHD) using genomic data from 150,656 Icelanders, excluding those diagnosed with these psychiatric diseases. Polygenic risk of autism and ADHD is associated with number of children. Higher polygenic risk of autism is associated with fewer children and older age at first child whereas higher polygenic risk of ADHD is associated with having more children. We find no evidence for a selective advantage of a high polygenic risk of schizophrenia or bipolar disorder. Rare copy-number variants conferring moderate to high risk of psychiatric illness are associated with having fewer children and are under stronger negative selection pressure than common sequence variants.European Community's Seventh Framework Programme under the Marie Curie Industry-Academia Partnership and Pathways (PsychDPC) Innovative Medicines Initiative Joint Undertaking National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London Maudsley NHS Foundation Trust King's College Londo

    Autistic Adult Services Availability, Preferences, and User Experiences : Results From the Autism Spectrum Disorder in the European Union Survey

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    There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons responded to the survey and 1,085 (54%) of them completed at least one of the services sections: 469 autistic adults (65% female; 55% 50% responded "don't know"). Five of seven residential services features recommended for autistic adults were experienced byPeer reviewe

    Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences

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    The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults

    Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study

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    Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals

    Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project

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    The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults-especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services

    Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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    Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

    Autism spectrum disorders in children with a history of infantile spasms: a population-based study.

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    To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldThe objective of this article is to describe autistic spectrum disorders in children diagnosed with infantile spasms in the first year of life. The source of data was the records of all 3 pediatric departments in Iceland. Twenty children born between 1981 and 1998 who had infantile spasms were invited to participate. When appropriate, the parents of these children were asked to complete the Social Communication Questionnaire. Children scoring 10 points or higher on the questionnaire were selected for further examination using the Autism Diagnostic Interview- Revised and either the Autism Diagnostic Observation Schedule or the Childhood Autism Rating Scale. All participants were given appropriate cognitive tests or measures of adaptive behavior. The parents of 17 children (10 boys, 7 girls) agreed to participate in the study. Age at assessment ranged from 5 to 19 years with a mean age of 11 years and 6 months. Fourteen children had at least one neurodevelopmental disorder. Six (6/17), or 35.3%, were diagnosed with autism spectrum disorder (3 boys, 3 girls), five of these had a history of symptomatic infantile spasms, and four were profoundly mentally retarded (IQ/DQ<20). If the diagnosis of autism spectrum disorder was restricted to children with a developmental age of 24 months or more (3 cases), the prevalence was 17.6%. The estimates found in this study exceed the estimated prevalence of autism spectrum disorder in the general population

    Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: convergence and discrepancy in diagnosing autism.

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    To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldThe agreement between the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS) was investigated in the diagnostic assessment of 54 children aged 22-114 months referred for possible autism. The observed agreement between the two systems was 66.7% (Cohen's kappa = .40) when the ADI-R definition for autism was applied (i.e., scores reaching cutoff in three domains on the ADI-R), but increased considerably with less stringent criteria; that is, scores reaching cutoffs in two domains and in one domain on the ADI-R. As predicted, the CARS identified more cases of autism than the ADI-R. Children classified as autistic according to both instruments had significantly lower IQ/DQ and more severe autistic symptomatology than those classified with the CARS only

    Autism spectrum disorders in children with seizures in the first year of life - a population-based study

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    To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldPURPOSE: To describe autistic spectrum disorders (ASDs) in a cohort of children with history of unprovoked seizures other than infantile spasms in the first year of life. METHODS: The source of data was computer records from all the three pediatric departments in Iceland. Children diagnosed 1982-2000 with unprovoked seizures with onset between 28 days and 12 months of age (N = 102) were invited to participate in a study. Children with known developmental disorders and those whose parents had concerns regarding their child's development or behavior were investigated for possible ASD. Parents were asked to complete the Social Communication Questionnaire and children scoring 10 points or higher were further examined with the Autism Diagnostic Interview-Revised and observational measures. RESULTS: Eighty-four children (82.4%), 28 boys and 56 girls, participated in the study and 36.9% (31/84) were investigated for possible ASD. Twenty-four (28.6%) had at least one neurodevelopmental disorder, 14.3% had mental retardation (MR), and six (7.1%) were diagnosed with ASD, all of whom also had MR and three of whom had congenital brain abnormalities. CONCLUSION: These results suggest that the estimated prevalence of ASD is higher in children with history of seizure in the first year of life than it is in the general population. There are indications that support the view that children with ASD and history of seizure in the first year of life have higher prevalence of congenital brain abnormalities and are more often female, than other children with ASD

    El Alamein Fountain, Kings Cross, Sydney 1987 [transparency] /

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    Title from acquisition documentation.; Inscription on sleeve: "Australia. NSW. Sydney. Kings Cross. El Alamein fountain 1987. 26857"; Part of the collection: Robin Smith slide collection of Australian people, industry and agricultural activities.; Also available in electronic version via the Internet at: http://nla.gov.au/nla.pic-vn4236347
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