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Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants

  • Kate Langley (a1), Joanna Martin (a1), Sharifah Shameem Agha (a2), Charlotte Davies (a3), Evangelia Stergiakouli (a3), Peter Holmans (a3), Nigel Williams (a3), Michael Owen (a3), Michael O'Donovan (a3) and Anita Thapar (a3)...
Abstract
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%, χ2 = 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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Copyright
Corresponding author
Professor Anita Thapar, MRC Centre for Neuropsychiatric Genetics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, 4th Floor Main Building, Heath Park, Cardiff CF14 4XN, UK. Email: thapar@cardiff.ac.uk
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Declaration of interest

None.

Footnotes
References
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Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants

  • Kate Langley (a1), Joanna Martin (a1), Sharifah Shameem Agha (a2), Charlotte Davies (a3), Evangelia Stergiakouli (a3), Peter Holmans (a3), Nigel Williams (a3), Michael Owen (a3), Michael O'Donovan (a3) and Anita Thapar (a3)...
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