SC Malattie Neurologiche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Unità di Neurologia e Malattie Neuromuscolari, Dipartimento di Medicina Clinica e Sperimentale, Università di Messina, 98124, Messina, Italy.
J Neurol. 2023 Nov;270(11):5561-5568. doi: 10.1007/s00415-023-11911-y. Epub 2023 Aug 4.
Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.
Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls. ESS score > 10 indicated abnormal daytime somnolence, PSQI score > 5 bad sleep quality. We analyzed correlation with disease severity and characteristics, Hospital Anxiety and Depression Scale (HADS), Modified Fatigue Impact Scale (MFIS), Body Mass Index, drug use.
ESS and PSQI questionnaires were filled by 257 and 253 CMT patients, respectively, and 58 controls. Median PSQI score was higher in CMT patients than controls (6 vs 4, p = 0.006), with no difference for ESS score. Abnormal somnolence and poor sleep quality occurred in 23% and 56% of patients; such patients had more frequently anxiety/depression, abnormal fatigue, and positive sensory symptoms than those with normal ESS/PSQI. Moreover, patients with PSQI score > 5 had more severe disease (median CMT Examination Score, CMTES, 8 vs 6, p = 0.006) and more frequent use of anxiolytic/antidepressant drugs (29% vs 7%, p < 0.001).
Bad sleep quality and daytime sleepiness are frequent in CMT and correlated with anxiety, depression and fatigue, confirming that different components affect sleep. Sleep disorders, such as sleep apnea and restless leg syndrome, not specifically investigated here, are other factors known to impact on sleep quality and somnolence. CMT patients' management must include sleep behavior assessment and evaluation of its correlated factors, including general distress and fatigue.
Charcot-Marie-Tooth 病（CMT）患者存在睡眠异常，但相关数据较少。我们对意大利 CMT 患者队列进行了研究，以调查其存在情况及其相关性。
对意大利 CMT 登记处的患者和对照组进行 Epworth 睡眠量表（ESS）和匹兹堡睡眠质量指数（PSQI）调查。ESS 评分>10 表示日间嗜睡异常，PSQI 评分>5 表示睡眠质量差。我们分析了与疾病严重程度和特征、医院焦虑抑郁量表（HADS）、改良疲劳影响量表（MFIS）、体重指数、药物使用的相关性。
共纳入 257 名 CMT 患者填写 ESS 问卷，253 名 CMT 患者填写 PSQI 问卷，58 名对照组填写。CMT 患者的 PSQI 评分中位数高于对照组（6 分比 4 分，p=0.006），但 ESS 评分无差异。23%的患者有异常嗜睡，56%的患者睡眠质量差；与 ESS/PSQI 正常的患者相比，此类患者更常出现焦虑/抑郁、异常疲劳和阳性感觉症状。此外，PSQI 评分>5 的患者疾病更严重（CMT 检查评分中位数，CMTES，8 分比 6 分，p=0.006），使用抗焦虑/抗抑郁药物更频繁（29%比 7%，p<0.001）。
CMT 患者睡眠质量差和日间嗜睡较常见，与焦虑、抑郁和疲劳相关，这证实了不同的因素会影响睡眠。这里未专门调查的睡眠障碍，如睡眠呼吸暂停和不安腿综合征，是另一些已知会影响睡眠质量和嗜睡的因素。CMT 患者的管理必须包括睡眠行为评估和相关因素的评估，包括一般痛苦和疲劳。
