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Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families.
J Autism Dev Disord. 2020 May 27;:
Authors: LaBianca S, LaBianca J, Pagsberg AK, Jakobsen KD, Appadurai V, Buil A, Werge T
Abstract
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.
PMID: 32462456 [PubMed – as supplied by publisher]
via https://www.ncbi.nlm.nih.gov/pubmed/32462456?dopt=Abstract