Université Paris Cité, NeuroDiderot - INSERM, Paris, France.
Department of Sleep-Wake Disorders and Chronobiology, Hospital Gelderse Vallei Ede, Ede, Netherlands; Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, Netherlands.
Pediatr Neurol. 2024 Mar;152:153-161. doi: 10.1016/j.pediatrneurol.2024.01.004. Epub 2024 Jan 8.
This study investigates the distinctive social behaviors observed in individuals with Rett syndrome (RTT), characterized by the loss of spoken language, impaired eye gaze communication, gait abnormalities, and sleep issues. The research aims to identify social profiles in RTT and explore their correlation with sleep, sleep-disordered breathing (SDB), and daytime sleepiness.
Standard overnight sleep macrostructure and respiratory parameters were assessed. Extracting 25 social-related items and one for daytime sleepiness from the Rett Syndrome Behavioral Questionnaire, factor analysis was applied to establish latent social profiles. These profiles were then correlated with sleep parameters. The nonparametric Mann-Whitney U test compared social profiles based on the presence of SDB (defined by an apnea-hypopnea index greater than one per hour) and daytime sleepiness.
The study involved 12 female subjects with confirmed RTT diagnoses and MECP2 mutations, aged 8.54 ± 5.30 years. The Rett Syndrome Behavioral Questionnaire revealed a total average score of 25.83 ± 12.34, indicating varying degrees of social impairments. Comprising 25 social-related items, factor analysis yielded four social profiles: "interactive motricity," "mood change," "anxiety/agitation," and "gazing." Longer sleep onset latency correlated with increased socio-behavioral impairments, particularly in interactive motricity reduction. Conversely, higher rapid eye movement sleep was associated with fewer interactive socio-motor behaviors. No significant differences in social profiles were found concerning the presence of SDB or daytime sleepiness.
The findings suggest four distinct social profiles in RTT individuals, hinting at shared disrupted circuits between sensorimotor functioning and sleep-related neuronal pathways. Despite the absence of differences in SDB or daytime sleepiness, the study highlights the relationship between sleep parameters, such as sleep onset latency and rapid eye movement sleep, and socio-behavioral outcomes in RTT with MECP2 mutations.
本研究调查了雷特综合征（RTT）患者表现出的独特社会行为，其特征为丧失口语能力、眼神交流障碍、步态异常和睡眠问题。研究旨在确定 RTT 中的社会特征，并探讨其与睡眠、睡眠呼吸障碍（SDB）和日间嗜睡的相关性。
评估了标准的夜间睡眠宏观结构和呼吸参数。从雷特综合征行为问卷中提取 25 个与社会相关的项目和一个日间嗜睡项目，应用因子分析建立潜在的社会特征。然后，将这些特征与睡眠参数相关联。非参数 Mann-Whitney U 检验比较了基于 SDB（定义为每小时呼吸暂停低通气指数大于 1）和日间嗜睡存在的社会特征。
研究纳入了 12 名经证实的 RTT 诊断和 MECP2 突变的女性患者，年龄为 8.54 ± 5.30 岁。雷特综合征行为问卷的总平均得分为 25.83 ± 12.34，表明存在不同程度的社会障碍。包含 25 个与社会相关的项目，因子分析得出了四个社会特征：“互动运动”、“情绪变化”、“焦虑/激动”和“凝视”。睡眠潜伏期延长与社会行为障碍加重相关，特别是互动运动减少。相反，快速眼动睡眠增加与较少的互动社会运动行为相关。在 SDB 或日间嗜睡的存在方面，社会特征没有显著差异。
研究结果表明 RTT 个体存在四个不同的社会特征，提示感觉运动功能和与睡眠相关的神经元通路之间存在共享的破坏回路。尽管在 SDB 或日间嗜睡方面没有差异，但该研究强调了睡眠参数（如睡眠潜伏期和快速眼动睡眠）与 RTT 中 MECP2 突变患者社会行为结果之间的关系。
