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The Capital Region of Denmark - a part of Copenhagen University Hospital
E-pub ahead of print

Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families

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Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelop-mental 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.
Original languageDanish
JournalJournal of Autism and Developmental Disorders
Number of pages10
ISSN0162-3257
Publication statusE-pub ahead of print - 27 May 2020

ID: 59938050