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27-05-2020 | Original Paper

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

Tijdschrift:: Journal of Autism and Developmental Disorders

Auteurs:: Sonja LaBianca, Jette LaBianca, Anne Katrine Pagsberg, Klaus Damgaard Jakobsen, Vivek Appadurai, Alfonso Buil, Thomas Werge

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The online version of this article (https://doi.org/10.1007/s10803-020-04552-x) contains supplementary material, which is available to authorized users.

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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.

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Titel: Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
Auteurs:: Sonja LaBianca
Jette LaBianca
Anne Katrine Pagsberg
Klaus Damgaard Jakobsen
Vivek Appadurai
Alfonso Buil
Thomas Werge
Publicatiedatum: 27-05-2020
DOI: https://doi.org/10.1007/s10803-020-04552-x
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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