Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort.

The British Journal of Psychiatry : the Journal of Mental Science
Jack F G UnderwoodJeremy Hall

Abstract

The past decade has seen the development of services for adults presenting with symptoms of autism spectrum disorder (ASD) in the UK. Compared with children, little is known about the phenotypic and genetic characteristics of these patients. This e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically presenting sample of adults diagnosed with ASD by specialist services. Individuals diagnosed with ASD as adults were recruited by the National Centre for Mental Health and completed self-report questionnaires, interviews and provided DNA; 105 eligible individuals were matched to 76 healthy controls. We investigated demographics, social history and comorbid psychiatric and physical disorders. Samples were genotyped, copy number variants (CNVs) were called and polygenic risk scores were calculated. Of individuals with ASD, 89.5% had at least one comorbid psychiatric diagnosis, with depression (62.9%) and anxiety (55.2%) being the most common. The ASD group experienced more neurological comorbidities than controls, particularly migraine headache. They were less likely to have married or be in work, and had more alcohol-related problems. There was a significantly higher load of autism common genetic ...Continue Reading

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Citations

Sep 21, 2019·Current Pharmaceutical Design·George Anderson
May 4, 2020·Journal of Autism and Developmental Disorders·Stephen M EdelsonScott D Wright
Sep 10, 2020·Brain Sciences·Luigi Vetri
Jan 26, 2021·Autism : the International Journal of Research and Practice·Emily C TaylorPunit Shah
May 18, 2021·Frontiers in Psychiatry·Paul WhiteleyPaul Shattock
Jun 26, 2021·Autism in Adulthood : Challenges and Management·Eric Rubenstein, Sarah Furnier
Jul 18, 2021·Molecular Psychiatry·H Hobson, S Petty
Sep 3, 2021·PloS One·Joanna MartinUNKNOWN Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

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Methods Mentioned

BETA
genotyping

Software Mentioned

Galaxy
PLINK
Stata
SPSS Statistics
PennCNV

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Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

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