Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia.
Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia; Department of Respiratory Medicine, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Sleep Med. 2017 Apr;32:92-96. doi: 10.1016/j.sleep.2016.12.005. Epub 2016 Dec 21.
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease with variable severity that affects all ages. Sleepiness is an important co-morbidity affecting a large proportion of paediatric DM1 patients. The current study examined the relationship between sleepiness and quality of life in a paediatric DM1 cohort.
A cross-sectional study was conducted in children and adolescents with DM1 attending a multi-disciplinary neuromuscular clinic in a tertiary paediatric centre. The modified Epworth sleepiness scale (ESS), the PedsQL™ quality of life (version 4.0) and neuromuscular modules (version 3.0) were used to measure sleepiness, generic quality of life and neuromuscular-specific quality of life, respectively.
Seventeen current patients with DM1 completed all questionnaires and assessments. Of them, 35.5% had abnormal scores on the modified ESS, which is indicative of excessive daytime sleepiness (EDS). Higher ESS scores were highly significantly related to reduced quality of life in neuromuscular-specific (r = 0.77, p < 0.001) and generic measures (r = 0.78, p < 0.001). EDS was not significantly related to intellectual function or sleep disorders as detected on polysomnography.
EDS is common in children and adolescents with DM1. It is associated with reduced quality of life and should be routinely assessed. Further studies to develop treatments of EDS in this population are required and may improve overall outcomes.
1 型肌强直性营养不良（DM1）是一种具有不同严重程度的常染色体显性神经肌肉疾病，影响所有年龄段。嗜睡是一种重要的合并症，影响了很大一部分儿科 DM1 患者。本研究旨在检查儿科 DM1 患者群体中嗜睡与生活质量之间的关系。
在一家三级儿科中心的多学科神经肌肉诊所，对患有 DM1 的儿童和青少年进行了横断面研究。使用改良 Epworth 嗜睡量表（ESS）、PedsQL™生活质量量表（第 4.0 版）和神经肌肉模块（第 3.0 版）分别测量嗜睡、一般生活质量和神经肌肉特异性生活质量。
17 名当前患有 DM1 的患者完成了所有问卷和评估。其中，35.5%的患者改良 ESS 评分异常，表明存在日间过度嗜睡（EDS）。ESS 评分越高，与神经肌肉特异性（r=0.77，p<0.001）和一般措施（r=0.78，p<0.001）的生活质量降低高度相关。EDS 与智力功能或多导睡眠图检测到的睡眠障碍无显著相关性。
EDS 在患有 DM1 的儿童和青少年中很常见。它与生活质量降低有关，应常规评估。需要进一步研究开发针对该人群 EDS 的治疗方法，这可能会改善整体预后。
