Laberge Luc, Bégin Paul, Montplaisir Jacques, Mathieu Jean
Clinical Research Unit, Chicoutimi Hospital and Université du Québec à Chicoutimi, Saguenay, Québec, Canada.
J Sleep Res. 2004 Mar;13(1):95-100. doi: 10.1111/j.1365-2869.2004.00385.x.
The aim of this study was to document the clinical picture of excessive daytime sleepiness (EDS) and of other sleep disturbances, and to study the relationship of daytime sleepiness to anthropometric data, muscular impairment, and CTG trinucleotide repeat expansion in myotonic dystrophy type 1 (DM1). A total of 157 DM1 patients were surveyed using a modified version of the Sleep Questionnaire and Assessment of Wakefulness. Other measurements included muscular impairment rating and the size of the trinucleotide repeat. Factor analysis and reliability estimates were used to produce a daytime sleepiness scale with five items of the questionnaire. Thirty-eight healthy family members were studied as control subjects. It was found that EDS was present in 33.1% of DM1 patients. Severity of daytime sleepiness correlated with the degree of muscular impairment but not with age, gender, body mass index, age at onset of symptoms, duration of illness, and CTG repeat. DM1 patients reported a longer sleep period, a less restorative sleep, and more difficulty falling asleep, being alert in the morning and staying awake after meals than controls, but a similar incidence of narcolepsy auxiliary symptoms. Compared with DM1 patients without EDS, those with EDS reported greater hypnagogic hallucinations, and greater pain associated with nocturnal awakenings and in their legs upon morning awakenings. In sum, both DM1 patients with and without EDS exhibit characteristics of sleep duration and sleepiness comparable with those found in idiopathic hypersomnia. The severity of daytime sleepiness is weakly related to the extent of muscular impairment but not to CTG repeat.
本研究的目的是记录日间过度嗜睡(EDS)及其他睡眠障碍的临床表现,并研究日间嗜睡与人体测量数据、肌肉损伤以及1型强直性肌营养不良(DM1)中CTG三核苷酸重复扩增之间的关系。使用改良版睡眠问卷和清醒度评估对总共157例DM1患者进行了调查。其他测量包括肌肉损伤评级和三核苷酸重复的大小。采用因子分析和可靠性估计,从问卷的五个项目中得出一个日间嗜睡量表。选取38名健康家庭成员作为对照受试者进行研究。结果发现,33.1%的DM1患者存在EDS。日间嗜睡的严重程度与肌肉损伤程度相关,但与年龄、性别、体重指数、症状发作年龄、病程及CTG重复次数无关。与对照组相比,DM1患者报告睡眠时间更长、睡眠恢复效果更差、入睡更困难、早晨难以清醒以及饭后难以保持清醒,但发作性睡病辅助症状的发生率相似。与无EDS的DM1患者相比,有EDS的患者报告有更多的入睡前幻觉,以及与夜间觉醒相关的更强烈疼痛和早晨醒来时腿部的更强烈疼痛。总之,有和没有EDS的DM1患者都表现出与特发性发作性睡病中发现的睡眠时间和嗜睡特征相当的特点。日间嗜睡的严重程度与肌肉损伤程度弱相关,但与CTG重复次数无关。