Zhang Xinyan, Smits Marcel, Curfs Leopold, Spruyt Karen
Université de Paris, NeuroDiderot - INSERM, Paris, France.
Department of Sleep-wake Disorders and Chronobiology, Hospital Gelderse Vallei Ede, Netherlands. Governor Kremers Centre, Maastricht University Medical Centre, Netherlands.
Sleep Med. 2023 Jan;101:77-86. doi: 10.1016/j.sleep.2022.10.017. Epub 2022 Oct 27.
OBJECTIVE/BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is of utmost importance in neuronal function. We aim to characterize phenotypic traits in the sleep of individuals with Rett Syndrome (RTT, OMIM # 312750), a rare disorder predominantly caused by mutations of the MECP2 gene.
PATIENTS/METHODS: An overnight polysomnographic recording was performed. Outcomes investigated were parameters of nocturnal sleep macrostructure, and sample stratification per genetic and clinical characteristics, and six key features of clinical severity was applied.
The sleep of our 21 RTT female subjects with a mutant MECP2 gene, aged 8.8 ± 5.4 years, showed no significant differences within strata. However, compared to a normative dataset, we found longer duration of wake time after sleep onset and total sleep time (TST) but shorter sleep onset latency, in RTT. Regarding the proportion of sleep stages per TST, higher stage N3 (%) with lower stage N2 (%) and REM (%) were generally seen. Such abnormalities became more uniformly expressed at the severe level of clinical features, particularly for hand functioning and walking.
RTT girls with MECP2 mutations in our study demonstrated an increased deep sleep and reduced rapid eye movement sleep proportion, which is mostly allied with their hand dysfunction severity. Poor sleep-on/off switching in RTT since embryogenesis is possibly linked to (psycho)motor impairment in the cases with MECP2 mutations.
目的/背景：甲基化CpG结合蛋白2（MeCP2）在神经元功能中至关重要。我们旨在描述雷特综合征（RTT，OMIM # 312750）患者睡眠中的表型特征，这是一种主要由MECP2基因突变引起的罕见疾病。
患者/方法：进行了一夜的多导睡眠图记录。研究的结果是夜间睡眠宏观结构的参数，以及根据遗传和临床特征进行的样本分层，并应用了临床严重程度的六个关键特征。
我们的21名携带MECP2基因突变的RTT女性受试者，年龄为8.8±5.4岁，其睡眠在各层内无显著差异。然而，与正常数据集相比，我们发现RTT患者睡眠开始后的清醒时间和总睡眠时间（TST）更长，但睡眠开始潜伏期更短。关于每个TST的睡眠阶段比例，通常可见较高的N3期（%），较低的N2期（%）和快速眼动期（REM，%）。这种异常在临床特征严重程度较高时表现得更为一致，特别是在手功能和行走方面。
我们研究中携带MECP2突变的RTT女孩表现出深度睡眠增加和快速眼动睡眠比例降低，这主要与其手功能障碍的严重程度相关。自胚胎发生以来RTT患者睡眠开/关转换不良可能与MECP2突变病例中的（精神）运动障碍有关。
