Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
Copyright policy )Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
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.
- University of Copenhagen Denmark
- Lundbeck Germany
- Mental Health Services Denmark
- University of Copenhagen Denmark
Adult, Male, Multifactorial Inheritance, Adolescent, DNA Copy Number Variations, Denmark, Comorbidity, DNA Copy Number Variations/genetics, Autistic Disorder/diagnosis, Denmark/epidemiology, Attention Deficit Disorder with Hyperactivity, Predictive Value of Tests, Risk Factors, Attention Deficit Disorder with Hyperactivity/diagnosis, Humans, Female, Autistic Disorder, Child, Multifactorial Inheritance/genetics
Adult, Male, Multifactorial Inheritance, Adolescent, DNA Copy Number Variations, Denmark, Comorbidity, DNA Copy Number Variations/genetics, Autistic Disorder/diagnosis, Denmark/epidemiology, Attention Deficit Disorder with Hyperactivity, Predictive Value of Tests, Risk Factors, Attention Deficit Disorder with Hyperactivity/diagnosis, Humans, Female, Autistic Disorder, Child, Multifactorial Inheritance/genetics
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