Abstract
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5–BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10−21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.
Highlights
Attention-deficit/hyperactivity disorder (ADHD) is a common childhood-onset neurodevelopmental disorder characterized by a triad of signs—age-inappropriate levels of inattentive, hyperactive and impulsive behavior—that lead to severe impairments[1]
The subjects diagnosed with ADHD are on average 13.6 years younger than those prescribed medication for ADHD, and the combined ADHD sample has a male to female ratio of 3:2
We compiled a list of 19 neuropsychiatric copy number variations (CNVs) that have been shown to confer risk of schizophrenia and/or ASD17–19,37,38,39 (Supplementary Table 2)
Summary
Attention-deficit/hyperactivity disorder (ADHD) is a common childhood-onset neurodevelopmental disorder characterized by a triad of signs—age-inappropriate levels of inattentive, hyperactive and impulsive behavior—that lead to severe impairments[1]. ADHD is estimated to affect 3.4% of the population worldwide[2]. A schizophrenia polygenic score, estimated from an adult population, was found to confer a small but significant risk of childhood ADHD6. A history of ADHD signs is common in individuals who develop schizophrenia, with attentional impairment as a central cognitive feature of both disorders[4]. Cognitive flexibility and attention seen in ADHD are similar to those observed in schizophrenia[7]. Likewise family-based and twin studies in clinical ADHD samples have shown that signs of autism spectrum disorders (ASD) are common within ADHD families and that more
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