St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 740, Memphis, TN, 38105, USA.
Department of Psychology, The Ohio State University, 225 Psychology Building, 1835 Neil Ave, Columbus, OH, 43210, USA.
J Autism Dev Disord. 2023 Apr;53(4):1462-1475. doi: 10.1007/s10803-021-05311-2. Epub 2021 Oct 11.
Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep disturbance in a well-characterized national sample of 16p11.2 CNVs, the Simons Foundation Autism Research Initiative (SFARI) database of youth and adults (n = 692). Factor analyses and multilevel models of derived sleep questionnaires for youth (n = 345) and adults (n = 347) indicate that 16p11.2 carriers show elevated sleep disturbance relative to community controls. Non-carrier family members also show elevated sleep disturbance. However, sleep duration does not differ between carriers and controls. Further studies of sleep in 16p11.2 are needed.
对 16p11.2 拷贝数变异（CNVs）的研究为识别神经发育障碍个体的损伤机制和开发靶向治疗提供了途径。目前正在确定 16p11.2 缺失和重复表型；然而，睡眠障碍的描述很少。在这项研究中，我们研究了在一个特征明确的 16p11.2 CNVs 国家样本中，即西蒙斯基金会自闭症研究倡议（SFARI）的青年和成年人数据库（n=692）中的睡眠障碍。对青年（n=345）和成年人（n=347）的衍生睡眠问卷进行的因素分析和多层次模型表明，与社区对照相比，16p11.2 携带者表现出更高的睡眠障碍。非携带者的家庭成员也表现出睡眠障碍增加。然而，携带者和对照组之间的睡眠时间没有差异。需要进一步研究 16p11.2 的睡眠。
