目的:亨廷顿病(HD)的睡眠研究主要集中在明显的HD,显着减少对显眼HD(Pre-HD)的关注。因此,我们调查了Pre-HD患者与健康对照(HC)患者的睡眠和休息-活动模式.
方法:我们进行了一项横断面研究,包括36名Pre-HD和48名HC参与者。HD前参与者根据他们与估计诊断的接近度分为三组,使用胞嘧啶-腺嘌呤-鸟嘌呤(CAG)和当前基于年龄的预测模型:近(诊断<9岁),MID(诊断为9-15年)和FAR(诊断为>15年)。睡眠和休息活动模式使用腕部肌动计来评估,睡眠日记,和睡眠问卷。
结果:NEAR和MID组的碎片化指数高于HC和FAR组。NEAR和MID组的WASO也高于FAR组。NEAR和MID组的每日变异性(IV)低于HC和FAR组,在最活跃的10小时(M10)中,NEAR组也更活跃。小组在主观睡眠测量上没有差异,每日稳定性(IS),睡眠规律性指数,相对振幅,或在最小活性5小时内的活性量(L5)。考虑到所有Pre-HD参与者,诊断时间更短,较高的CAG-年龄乘积(CAP)评分(对导致HD的基因突变的累积暴露量的度量)和较大的CAG重复长度与较高的WASO相关,碎片索引,L5,IS,和降低睡眠效率和IV。较高的CAP评分与较高的M10相关。
结论:尽管休息活动模式完整,主观睡眠质量与HC相似,更大的睡眠碎片是Pre-HD的突出和早期特征。因此,减少睡眠碎片可能是HD睡眠干预的潜在目标。需要使用更大样本的纵向研究来评估整个疾病谱的睡眠及其对临床结果的影响。比如认知。
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.