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

Underwood, Jack ORCID:, Kendall, Kimberley ORCID:, Berrett, Jennifer, Lewis, Catrin ORCID:, Anney, Richard ORCID:, Van den Bree, Marianne ORCID: and Hall, Jeremy ORCID: 2019. Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. British Journal of Psychiatry 215 (5) , pp. 647-653. 10.1192/bjp.2019.30

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Background 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. Aims 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. Method 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. Results 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 variants in the adult ASD group compared with controls, but there was no difference in the rate of rare CNVs. Conclusions This study provides important information about psychiatric comorbidity in adult ASD, which may inform clinical practice and patient counselling. It also suggests that the polygenic load of common ASD-associated variants may be important in conferring risk within the non-intellectually disabled population of adults with ASD.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Cambridge University Press (CUP)
ISSN: 0007-1250
Date of First Compliant Deposit: 24 January 2019
Date of Acceptance: 16 January 2019
Last Modified: 08 May 2023 12:15

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