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

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Bibliographic Details
Title: Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
Language: English
Authors: LaBianca, Sonja (ORCID 0000-0001-5644-6472), LaBianca, Jette, Pagsberg, Anne Katrine, Jakobsen, Klaus Damgaard, Appadurai, Vivek, Buil, Alfonso, Werge, Thomas
Source: Journal of Autism and Developmental Disorders. Jan 2021 51(1):276-285.
Availability: Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://link.springer.com/
Peer Reviewed: Y
Page Count: 10
Publication Date: 2021
Document Type: Journal Articles
Reports - Research
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Comorbidity, Age Differences, Genetic Disorders, At Risk Persons, Health Services
DOI: 10.1007/s10803-020-04552-x
ISSN: 0162-3257
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.
Abstractor: As Provided
Entry Date: 2021
Accession Number: EJ1280759
Database: ERIC
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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.
ISSN:0162-3257
DOI:10.1007/s10803-020-04552-x