2a型Usher综合征患者睡眠质量与疲劳状况的评估
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.
作者信息
Hendricks Jessie M, Metz Juriaan R, Velde Hedwig M, Weeda Jack, Hartgers Franca, Yzer Suzanne, Hoyng Carel B, Pennings Ronald J E, Collin Rob W J, Boss Myrthe H M, de Vrieze Erik, van Wijk Erwin
机构信息
Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Animal Ecology & Physiology, Radboud Institute for Biological and Environmental Sciences, Radboud University Nijmegen, The Netherlands.
出版信息
Ophthalmol Sci. 2023 May 5;3(4):100323. doi: 10.1016/j.xops.2023.100323. eCollection 2023 Dec.
PURPOSE
To study the prevalence, level, and nature of sleep problems and fatigue experienced by Usher syndrome type 2a (USH2a) patients.
DESIGN
Cross-sectional study.
PARTICIPANTS
Fifty-six genetically confirmed Dutch patients with syndromic USH2a and 120 healthy controls.
METHODS
Sleep quality, prevalence, and type of sleep disorders, chronotype, fatigue, and daytime sleepiness were assessed using 5 questionnaires: (1) Pittsburgh Sleep Quality Index, (2) Holland Sleep Disorders Questionnaire, (3) Morningness-Eveningness Questionnaire, (4) Checklist Individual Strength, and (5) Epworth Sleepiness Scale. For a subset of patients, recent data on visual function were used to study the potential correlation between the outcomes of the questionnaires and disease progression.
MAIN OUTCOME MEASURES
Results of all questionnaires were compared between USH2a and control cohorts, and the scores of the patients were compared with disease progression defined by age, visual field size, and visual acuity.
RESULTS
Compared with the control population, patients with USH2a experienced a poorer quality of sleep, a higher incidence of sleep disorders, and higher levels of fatigue and daytime sleepiness. Intriguingly, the sleep disturbances and high levels of fatigue were not correlated with the level of visual impairment. These results are in accordance with the patients' experiences that their sleep problems already existed before the onset of vision loss.
CONCLUSIONS
This study demonstrates a high prevalence of fatigue and poor sleep quality experienced by patients with USH2a. Recognition of sleep problems as a comorbidity of Usher syndrome would be a first step toward improved patient care. The absence of a relationship between the level of visual impairment and the severity of reported sleep problems is suggestive of an extraretinal origin of the sleep disturbances.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found after the references.
目的
研究2a型Usher综合征（USH2a）患者睡眠问题和疲劳的患病率、程度及性质。
设计
横断面研究。
参与者
56名经基因确诊的荷兰综合征性USH2a患者和120名健康对照者。
方法
使用5份问卷评估睡眠质量、睡眠障碍的患病率和类型、昼夜节律类型、疲劳及日间嗜睡情况：（1）匹兹堡睡眠质量指数；（2）荷兰睡眠障碍问卷；（3）晨型-夜型问卷；（4）个人力量清单；（5）爱泼沃斯嗜睡量表。对于一部分患者，使用近期视觉功能数据研究问卷结果与疾病进展之间的潜在相关性。
主要观察指标
比较USH2a患者组和对照组所有问卷的结果，并将患者的得分与根据年龄、视野大小和视力定义的疾病进展情况进行比较。
结果
与对照人群相比，USH2a患者的睡眠质量较差，睡眠障碍发生率较高，疲劳及日间嗜睡程度较高。有趣的是，睡眠障碍和高水平的疲劳与视力损害程度无关。这些结果与患者的经历相符，即他们的睡眠问题在视力丧失之前就已存在。
结论
本研究表明USH2a患者中疲劳和睡眠质量差的患病率很高。认识到睡眠问题是Usher综合征的一种合并症将是改善患者护理的第一步。视力损害程度与所报告睡眠问题的严重程度之间缺乏关联提示睡眠障碍起源于视网膜外。
财务披露
专有或商业披露信息可在参考文献之后找到。
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