Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, 760 Westwood Plaza, Los Angeles, CA, 90095, USA.
Neuroscience Interdepartmental Program, University of California, Los Angeles, CA, USA.
Curr Psychiatry Rep. 2023 Oct;25(10):479-491. doi: 10.1007/s11920-023-01444-6. Epub 2023 Sep 18.
To summarize current literature available on sleep in 22q11.2 Deletion Syndrome (22q11.2DS; Velocardiofacial or DiGeorge Syndrome), a neurogenetic disorder caused by a hemizygous deletion in a genomic region critical for neurodevelopment. Due to the greatly increased risk of developmental psychiatric disorders (e.g., autism and schizophrenia) in 22q11.2DS, this review focuses on clinical correlates of sleep disturbances and potential neurobiological underpinnings of these relationships.
Sleep disturbances are widely prevalent in 22q11.2DS and are associated with worse behavioral, psychiatric, and physical health outcomes. There are reports of sleep architecture and sleep neurophysiology differences, but the literature is limited by logistical challenges posed by objective sleep measures, resulting in small study samples to date. Sleep disturbances in 22q11.2DS are prevalent and have a substantial impact on well-being. Further investigation of sleep in 22q11.2DS utilizing multimodal sleep assessments has the potential to provide new insight into neurobiological mechanisms and a potential trans-diagnostic treatment target in 22q11.2DS.
总结目前关于 22q11.2 缺失综合征(22q11.2DS;心脏面部畸形或 DiGeorge 综合征)睡眠的文献,这是一种由神经发育关键基因组区域的杂合性缺失引起的神经遗传疾病。由于 22q11.2DS 发生发育性精神疾病(如自闭症和精神分裂症)的风险大大增加,本综述重点关注睡眠障碍的临床相关性及其潜在的神经生物学基础。
22q11.2DS 中睡眠障碍广泛存在,并与更差的行为、精神和身体健康结果相关。有研究报告了睡眠结构和睡眠神经生理学的差异,但由于客观睡眠测量存在实际困难,文献受到限制,迄今为止研究样本较小。22q11.2DS 中的睡眠障碍普遍存在,对幸福感有重大影响。利用多模态睡眠评估进一步研究 22q11.2DS 中的睡眠,有可能为神经生物学机制提供新的见解,并为 22q11.2DS 提供潜在的跨诊断治疗靶点。