Psychiatric disorders in children with 16p11.2 deletion and duplication
Psychiatric disorders in children with 16p11.2 deletion and duplication
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DOI：
10.1038/s41398-018-0339-8
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发表时间：
2019-01-16
影响因子：
6.8
通讯作者：
van den Bree, Marianne B. M.
中科院分区：
文献类型：
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作者：
Niarchou, Maria;Chawner, Samuel J. R. A.;van den Bree, Marianne B. M.
16p11.2 (BP4-BP5) 的缺失和重复与智力障碍和精神疾病的风险增加有关。这是第一项比较 16p11.2 缺失和重复儿童中多种精神疾病发生频率的研究。我们的目的是：(1) 通过比较缺失和重复携带者与家庭对照，评估 16p11.2 儿童中与拷贝数变异 (CNV) 相关的精神病理学的性质和患病率； (2)缺失和重复携带者的精神病理学频率是否不同。 217个缺失携带者、77个缺失家族对照、114个重复携带者和32个重复家族对照参与了该研究。措施包括标准化研究诊断仪器。与对照组相比，缺失携带者患有任何精神疾病（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）的频率更高。与对照组相比，重复携带者的任何精神科诊断（OR = 5.3，p = 0.01）和 ADHD（OR = 7.0，p = 0.02）的频率更高。缺失和重复儿童携带者中 ASD 的患病率相似（22% 与 26%）。两个 CNV 组的比较表明，重复的儿童比缺失的儿童患 ADHD 的频率更高（OR = 2.7，p = 0.04），总体精神疾病（OR = 2.8，p = 0.02）和精神病症状（OR = 4.7，p = 0.02）的频率也更高。然而，缺失和重复携带者之间 ASD 患病率没有差异。缺失和重复都与精神疾病风险增加相关，这支持了对这些群体进行早期识别、诊断和干预的重要性。
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.