Department of Psychological Medicine and Neurology, and MRC Centre for Neuropsychiatric Genetics, Cardiff University, Cardiff, UK.
Br J Psychiatry. 2011 Nov;199(5):398-403. doi: 10.1192/bjp.bp.111.092130.
Submicroscopic, rare chromosomal copy number variants (CNVs) contribute to neurodevelopmental disorders but it is not known whether they define atypical clinical cases.
To identify whether large, rare CNVs in attention-deficit hyperactivity disorder (ADHD) are confined to a distinct clinical subgroup.
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.
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.
Large, rare CNVs are not restricted to an atypical form of ADHD but may be more highly enriched in children with cognitive problems.
亚微观的、罕见的染色体拷贝数变异（CNVs）会导致神经发育障碍，但尚不清楚它们是否定义了非典型的临床病例。
确定注意缺陷多动障碍（ADHD）中的大型罕见 CNVs 是否局限于特定的临床亚组。
从社区诊所招募了 567 名年龄在 5-17 岁的 ADHD 儿童。使用儿童和青少年心理评估来评估精神病理学。从单核苷酸多态性数据中定义了大的、罕见的 CNVs（>500kb，<1%的频率）。
CNV 携带者（13.6%）在 ADHD 症状严重程度、症状类型、共病、发育特征、家族史或产前/围产期标志物方面与非携带者没有差异。唯一的显著差异是智力障碍的发生率更高（24%比 9%，χ²=15.5，P=0.001）。大多数 CNV 携带者没有智力障碍。
大型罕见 CNVs 不仅局限于不典型的 ADHD 形式，而且可能在有认知问题的儿童中更为丰富。
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