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Updated: May 28, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without
Kate Langley1, Joanna Martin, Sharifah Shameem Agha
1Department of Psychological Medicine and Neurology, and MRC Centre for Neuropsychiatric Genetics, Cardiff University, Cardiff, UK.
Background:
Submicroscopic, rare chromosomal copy number variants (CNVs) contribute to neurodevelopmental disorders but it is not known whether they define atypical clinical cases.
Aims:
To identify whether large, rare CNVs in attention-deficit hyperactivity disorder (ADHD) are confined to a distinct clinical subgroup.
Method:
A total of 567 children with ADHD aged 5-17 years were recruited from community clinics. Psychopathology was assessed using the Child and Adolescent Psychiatric Assessment. Large, rare CNVs (>500 kb, <1% frequency) were defined from single nucleotide polymorphism data.
Results:
Copy number variant carriers (13.6%) showed no differences from non-carriers in ADHD symptom severity, symptom type, comorbidity, developmental features, family history or pre-/perinatal markers. The only significant difference was a higher rate of intellectual disability (24% v. 9%, χ(2) = 15.5, P = 0.001). Most CNV carriers did not have intellectual disability.
Conclusions:
Large, rare CNVs are not restricted to an atypical form of ADHD but may be more highly enriched in children with cognitive problems.
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