{"title":"Sleep fragmentation despite intact rest-activity patterns in premanifest Huntington's disease: An actigraphy study","authors":"","doi":"10.1016/j.sleep.2024.08.026","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>Sleep research in Huntington's disease (HD) has primarily focused on manifest HD, with significantly less attention given to premanifest HD (Pre-HD). Therefore, we investigated sleep and rest-activity patterns in people with Pre-HD versus healthy controls (HC).</p></div><div><h3>Methods</h3><p>We conducted a cross-sectional study including 36 Pre-HD and 48 HC participants. Pre-HD participants were stratified into three groups according to their proximity to estimated diagnosis, using a cytosine-adenine-guanine (CAG) and current age-based predictive model: NEAR (<9 years to diagnosis), MID (9–15 years to diagnosis) and FAR (>15 years to diagnosis). Sleep and rest-activity patterns were assessed using wrist-worn actigraphy, a sleep diary, and sleep questionnaires.</p></div><div><h3>Results</h3><p>NEAR and MID groups experienced higher fragmentation index than HC and FAR groups. NEAR and MID groups also exhibited greater WASO than the FAR group. NEAR and MID groups showed lower intra-daily variability (IV) than HC and FAR groups, with the NEAR group also being more active in the most active 10 h (M10). Groups did not differ on subjective sleep measures, inter-daily stability (IS), sleep regularity index, relative amplitude, or amount of activity in the least active 5 h (L5). Considering all Pre-HD participants, fewer years to diagnosis, higher CAG-age-product (CAP) scores (a measure of cumulative exposure to the HD-causing gene mutation) and larger CAG repeat lengths correlated with higher WASO, fragmentation index, L5, IS, and lower sleep efficiency and IV. Higher CAP score correlated with higher M10.</p></div><div><h3>Conclusions</h3><p>Despite intact rest-activity patterns and similar subjective sleep quality to HC, greater sleep fragmentation is a prominent and early feature in Pre-HD. Therefore, reducing sleep fragmentation may be a potential target for sleep intervention in HD. Longitudinal studies using larger samples are needed to assess sleep across the disease spectrum and its impact on clinical outcomes, like cognition.</p></div>","PeriodicalId":21874,"journal":{"name":"Sleep medicine","volume":null,"pages":null},"PeriodicalIF":3.8000,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1389945724003976/pdfft?md5=8c433137ec37d9138ba9c60c53571504&pid=1-s2.0-S1389945724003976-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sleep medicine","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1389945724003976","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Objective
Sleep research in Huntington's disease (HD) has primarily focused on manifest HD, with significantly less attention given to premanifest HD (Pre-HD). Therefore, we investigated sleep and rest-activity patterns in people with Pre-HD versus healthy controls (HC).
Methods
We conducted a cross-sectional study including 36 Pre-HD and 48 HC participants. Pre-HD participants were stratified into three groups according to their proximity to estimated diagnosis, using a cytosine-adenine-guanine (CAG) and current age-based predictive model: NEAR (<9 years to diagnosis), MID (9–15 years to diagnosis) and FAR (>15 years to diagnosis). Sleep and rest-activity patterns were assessed using wrist-worn actigraphy, a sleep diary, and sleep questionnaires.
Results
NEAR and MID groups experienced higher fragmentation index than HC and FAR groups. NEAR and MID groups also exhibited greater WASO than the FAR group. NEAR and MID groups showed lower intra-daily variability (IV) than HC and FAR groups, with the NEAR group also being more active in the most active 10 h (M10). Groups did not differ on subjective sleep measures, inter-daily stability (IS), sleep regularity index, relative amplitude, or amount of activity in the least active 5 h (L5). Considering all Pre-HD participants, fewer years to diagnosis, higher CAG-age-product (CAP) scores (a measure of cumulative exposure to the HD-causing gene mutation) and larger CAG repeat lengths correlated with higher WASO, fragmentation index, L5, IS, and lower sleep efficiency and IV. Higher CAP score correlated with higher M10.
Conclusions
Despite intact rest-activity patterns and similar subjective sleep quality to HC, greater sleep fragmentation is a prominent and early feature in Pre-HD. Therefore, reducing sleep fragmentation may be a potential target for sleep intervention in HD. Longitudinal studies using larger samples are needed to assess sleep across the disease spectrum and its impact on clinical outcomes, like cognition.
目标有关亨廷顿氏病(HD)的睡眠研究主要集中在显性HD上,而对显性前HD(Pre-HD)的关注则少得多。因此,我们调查了HD前期患者与健康对照组(HC)患者的睡眠和休息活动模式。我们使用胞嘧啶-腺嘌呤-鸟嘌呤(CAG)和当前基于年龄的预测模型,根据与估计诊断的接近程度将先心病患者分为三组:NEAR组(距诊断9年)、MID组(距诊断9-15年)和FAR组(距诊断15年)。结果NEAR组和MID组的破碎指数高于HC组和FAR组。与 FAR 组相比,NEAR 组和 MID 组的 WASO 也更高。与 HC 组和 FAR 组相比,NEAR 组和 MID 组的日内变异性(IV)更低,NEAR 组在最活跃的 10 小时(M10)内也更活跃。各组在主观睡眠测量、日间稳定性(IS)、睡眠规律性指数、相对振幅或最不活跃 5 小时(L5)的活动量方面没有差异。考虑到所有先天性心脏病患者,较短的诊断年限、较高的CAG-年龄-产物(CAP)得分(一种衡量HD致病基因突变累积暴露的指标)和较大的CAG重复长度与较高的WASO、破碎指数、L5、IS以及较低的睡眠效率和IV相关。尽管休息-活动模式完好无损,主观睡眠质量与 HC 相似,但睡眠片段较多是前期 HD 的一个突出和早期特征。因此,减少睡眠碎片可能是HD患者睡眠干预的潜在目标。需要使用更多样本进行纵向研究,以评估整个疾病谱的睡眠情况及其对认知等临床结果的影响。
期刊介绍:
Sleep Medicine aims to be a journal no one involved in clinical sleep medicine can do without.
A journal primarily focussing on the human aspects of sleep, integrating the various disciplines that are involved in sleep medicine: neurology, clinical neurophysiology, internal medicine (particularly pulmonology and cardiology), psychology, psychiatry, sleep technology, pediatrics, neurosurgery, otorhinolaryngology, and dentistry.
The journal publishes the following types of articles: Reviews (also intended as a way to bridge the gap between basic sleep research and clinical relevance); Original Research Articles; Full-length articles; Brief communications; Controversies; Case reports; Letters to the Editor; Journal search and commentaries; Book reviews; Meeting announcements; Listing of relevant organisations plus web sites.