Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Researchers

Journal

Modalities

Models

Abstract

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognition in a community sample of 7100 unrelated children and youth of European or East Asian ancestry (Spit for Science). Clinically significant or susceptibility CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of attention-deficit/hyperactivity disorder (ADHD) traits (p = 5.0 × 10-3), longer response inhibition (a cognitive deficit found in several mental health and neurodevelopmental disorders; p = 1.0 × 10-2), and increased prevalence of mental health diagnoses (p = 1.9 × 10-6, odds ratio: 3.09), specifically ADHD, autism spectrum disorder (ASD), anxiety and learning problems/learning disorder (p’s < 0.01). There was an increased burden of rare deletions in gene-sets related to brain function or expression in brain associated with more ADHD traits. With the current mental health crisis, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions.© The Author(s) 2023. Published by Oxford University Press.