Division of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8.
Deletion and duplication of 16p11.2 (BP4-BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a broad spectrum of psychiatric disorders in children with 16p11.2 deletion and duplication. We aimed to evaluate (1) the nature and prevalence of psychopathology associated with copy number variation (CNV) in children with 16p11.2 by comparing deletion and duplication carriers with family controls; (2) whether deletion and duplication carriers differ in frequency of psychopathology. 217 deletion carriers, 77 deletion family controls, 114 duplication carriers, and 32 duplication family controls participated in the study. Measures included standardized research diagnostic instruments. Deletion carriers had a higher frequency of any psychiatric disorder (OR = 8.9, p < 0.001), attention deficit hyperactivity disorder (ADHD) (OR = 4.0, p = 0.01), and autism spectrum disorder (ASD) (OR = 39.9, p = 0.01) than controls. Duplication carriers had a higher frequency of any psychiatric diagnosis (OR = 5.3, p = 0.01) and ADHD (OR = 7.0, p = 0.02) than controls. The prevalence of ASD in child carriers of deletions and duplications was similar (22% versus 26%). Comparison of the two CNV groups indicated a higher frequency of ADHD in children with the duplication than deletion (OR = 2.7, p = 0.04) as well as a higher frequency of overall psychiatric disorders (OR = 2.8, p = 0.02) and psychotic symptoms (OR = 4.7, p = 0.02). However, no differences between deletion and duplications carriers in the prevalence of ASD were found. Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups.
16p11.2（BP4-BP5）的缺失和重复与智力障碍和精神障碍的风险增加有关。这是第一项比较携带 16p11.2 缺失和重复的儿童广泛精神障碍频率的研究。我们旨在评估：(1) 通过比较缺失和重复携带者与家庭对照，评估与拷贝数变异（CNV）相关的精神病理学的性质和普遍性；(2) 缺失和重复携带者的精神病理学频率是否存在差异。217 名缺失携带者、77 名缺失家庭对照、114 名重复携带者和 32 名重复家庭对照参加了这项研究。测量方法包括标准化的研究诊断工具。与对照组相比，缺失携带者的任何精神障碍（OR=8.9，p<0.001）、注意力缺陷多动障碍（ADHD）（OR=4.0，p=0.01）和自闭症谱系障碍（ASD）（OR=39.9，p=0.01）的发生率更高。与对照组相比，重复携带者的任何精神诊断（OR=5.3，p=0.01）和 ADHD（OR=7.0，p=0.02）的发生率更高。缺失和重复携带者的 ASD 患病率相似（22%对 26%）。比较这两组 CNV 发现，携带重复的儿童 ADHD 的发生率高于携带缺失的儿童（OR=2.7，p=0.04），以及总体精神障碍（OR=2.8，p=0.02）和精神病症状（OR=4.7，p=0.02）的发生率更高。然而，在 ASD 的患病率方面，缺失和重复携带者之间没有差异。缺失和重复均与精神障碍风险增加相关，支持在这些人群中早期识别、诊断和干预的重要性。
