Erokhina E K, Melnik E A, Lebedeva D D, Shamtieva K V, Peters T V, Pavlikova E P, Gepard V V, Vlodavets D V
Pirogov Russian National Research Medical University, Moscow, Russia.
Research Center of Neurology, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2023;123(8):62-67. doi: 10.17116/jnevro202312308162.
To characterize sleep disorders in children and adults with different forms of myotonic dystrophy type 1 (DM1), to assess their impact on cognitive functions, excessive daytime sleepiness (EDS) and fatigue, to determine the relationship of EDS, fatigue, and sleep disorders with the quality of life of patients.
The study included 48 adults and 9 children with confirmed DM1. Patients underwent an assessment of clinical and anamnestic data, neurological, cognitive status, severity of EDS, fatigue, quality of life according to international scales and questionnaires. Polysomnography was performed to identify sleep disorders.
Obstructive sleep apnea syndrome (OSAS) was found in 78% of children and 79.2% of adults. The severity of OSAS in adults, in contrast to children, was influenced by obesity (<0.001), the severity of muscle weakness (=0.033), especially the neck muscles (=0.018). In patients with OSAS and nocturnal hypoxemia, an increase in the duration of the 1st stage of sleep (=0.008) and in the microactivation index (=0.005) was revealed. EDS and fatigue were present in 31 (64.6%) and 34 (70.8%) adults, respectively, in 9 (18.8%) they emerged at the onset of the disease. The greater severity of muscle symptoms, anxiety, depression contributed to increased fatigue in adults and the presence of obesity and type 2 diabetes mellitus contributed to EDS. Increased fatigue affects the quality of life to a greater extent than EDS and sleep disturbances.
OSAS, the development of which is facilitated by the presence of muscle weakness and obesity, is the leading syndrome among the spectrum of sleep disorders in all age groups. Cognitive and emotional impairments are not the result of sleep apnea, but rather develop because of a primary CNS lesion. The presence of increased fatigue reduced the quality of life of patients.
描述不同类型1型强直性肌营养不良（DM1）的儿童和成人的睡眠障碍，评估其对认知功能、日间过度嗜睡（EDS）和疲劳的影响，确定EDS、疲劳和睡眠障碍与患者生活质量的关系。
该研究纳入了48名确诊为DM1的成人和9名儿童。患者接受了临床和既往病史数据、神经学、认知状态、EDS严重程度、疲劳程度、根据国际量表和问卷评估的生活质量的评估。进行多导睡眠图检查以识别睡眠障碍。
78%的儿童和79.2%的成人患有阻塞性睡眠呼吸暂停综合征（OSAS）。与儿童相比，成人OSAS的严重程度受肥胖影响（<0.001）、肌肉无力的严重程度（=0.033），尤其是颈部肌肉（=0.018）。在患有OSAS和夜间低氧血症的患者中，发现第一阶段睡眠持续时间增加（=0.008）和微激活指数增加（=0.005）。分别有31名（64.6%）和34名（70.8%）成人存在EDS和疲劳，其中9名（18.8%）在疾病发作时出现。肌肉症状、焦虑、抑郁的更严重程度导致成人疲劳增加，肥胖和2型糖尿病的存在导致EDS。疲劳增加比EDS和睡眠障碍对生活质量的影响更大。
OSAS是所有年龄组睡眠障碍谱中的主要综合征，肌肉无力和肥胖促进了其发展。认知和情感障碍不是睡眠呼吸暂停的结果，而是由于原发性中枢神经系统病变所致。疲劳增加降低了患者的生活质量。
