School of Nursing, Healthcare Genetics Doctoral Program, Clemson University, Clemson, South Carolina, USA.
Greenwood Genetics Center, Greenwood, South Carolina, USA.
Mol Genet Genomic Med. 2022 Oct;10(10):e2035. doi: 10.1002/mgg3.2035. Epub 2022 Aug 23.
Sleep is essential to maintaining a healthy life. Sleep disturbances among individuals with neurodevelopmental disorders are not well studied, affecting their early detection and treatment. Sleep disturbances in individuals with Phelan-McDermid Syndrome (PMS) are among the primary concerns reported by parents. However, little research has been aimed at addressing their concern.
The purpose of this investigation was to identify and quantify specific sleep disturbances in people with PMS by analyzing data collected by the PMS Foundation International Registry.
The registry shows that 284 out of 384 (73.4%) individuals with confirmed chromosome 22q13 deletions or SHANK3 pathogenic variants have a sleep disturbance. The prevalence of sleep disturbances increases with age with 56% reporting a sleep disturbance in the 0-3 year age group and 90% reporting these disturbances in those over age 18 years old. The primary sleep disturbances were circadian rhythm sleep disorders that included difficulty falling asleep, frequent nighttime awakenings, difficulty returning to sleep after a nighttime awakening event, and hypersomnia and parasomnias including enuresis, night terrors, sleepwalking, and sleep apnea. Sleep disturbances were similarly frequent among individuals with SHANK3 pathogenic variants (84.8%) and those with deletions (71.9%), supporting the role of haploinsufficiency of SHANK3 in sleep.
Sleep disturbances are a common feature of PMS and should be considered in clinical evaluation and management because of the effect they have on the quality of life of the patients and their families.
睡眠对于维持健康的生活至关重要。神经发育障碍患者的睡眠障碍尚未得到充分研究，这影响了对这些患者的早期发现和治疗。普氏综合征（Phelan-McDermid Syndrome，PMS）患者的睡眠障碍是家长报告的主要问题之一。然而，针对这些问题的研究甚少。
本研究旨在通过分析 PMS 国际基金会注册处收集的数据，确定并量化 PMS 患者的特定睡眠障碍。
该注册处显示，384 名经确认存在 22q13 缺失或 SHANK3 致病性变异的患者中，有 284 名（73.4%）存在睡眠障碍。睡眠障碍的患病率随年龄增长而增加，0-3 岁年龄组中有 56%报告有睡眠障碍，而 18 岁以上年龄组中有 90%报告有这些障碍。主要的睡眠障碍是昼夜节律睡眠障碍，包括入睡困难、夜间频繁醒来、夜间醒来后难以再次入睡，以及嗜睡和睡眠障碍，包括遗尿、夜惊、梦游和睡眠呼吸暂停。SHANK3 致病性变异（84.8%）和缺失（71.9%）患者的睡眠障碍同样常见，支持 SHANK3 单倍不足在睡眠中的作用。
睡眠障碍是 PMS 的常见特征，应在临床评估和管理中考虑到这些障碍，因为它们会影响患者及其家庭的生活质量。
