ERIC Number: EJ1280759
Record Type: Journal
Publication Date: 2021-Jan
Pages: 10
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: N/A
Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
LaBianca, Sonja; LaBianca, Jette; Pagsberg, Anne Katrine; Jakobsen, Klaus Damgaard; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas
Journal of Autism and Developmental Disorders, v51 n1 p276-285 Jan 2021
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two.
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Comorbidity, Age Differences, Genetic Disorders, At Risk Persons, Health Services
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A