Background

Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen—but poorly characterized—in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing.

Methods

Retrospective comparative study of polysomnographic data from six patients with LS were reviewed and compared with 18 age-sex-AHI-matched patients with OSA, with particular attention to cardiorespiratory and sleep architecture metrics.

Results

Sleep architecture and stage duration were conserved in LS and OSA groups, but increased wake after sleep onset was seen among the first group. The LS group exhibited both obstructive and central sleep apnea. The group also had significantly greater values of heart rate, ≥3% oxygen desaturation index, and lower values of sleep efficiency, respiratory arousal index, and total sleep time when compared with the OSA group.

Conclusions

Patients with LS exhibited significantly more sleep-related cardiorespiratory disturbances and sleep fragmentation when compared with neurotypical children with OSA. Given that these findings are plausibly detrimental to health and development, sleep evaluation in patients with similar conditions should be encouraged for early management.

中文翻译：

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Leigh 综合征患儿的睡眠和呼吸障碍：一项比较研究

背景

Leigh 综合征 (LS) 是一种进行性神经退行性线粒体疾病，其特征是坏死性病变影响中枢神经系统的不同部位，尤其是脑干和基底神经节。该区域的病变可能涉及呼吸和睡眠中枢，导致 LS 中出现的具有临床意义但特征不明显的障碍。本研究的目的是描述和比较 LS 儿童与年龄-性别和呼吸暂停低通气指数 (AHI) 匹配的阻塞性睡眠呼吸暂停 (OSA) 患者对呼吸障碍的生理反应，通过多导睡眠图指标量化具有相似睡眠呼吸障碍负担的普通临床人群。

方法

对来自 6 名 LS 患者的多导睡眠图数据进行回顾性比较研究，并与 18 名年龄-性别-AHI 匹配的 OSA 患者进行比较，特别关注心肺和睡眠结构指标。

结果

睡眠结构和阶段持续时间在 LS 和 OSA 组中是保守的，但在第一组中观察到入睡后觉醒增加。LS 组表现出阻塞性和中枢性睡眠呼吸暂停。与 OSA 组相比，该组的心率值、氧饱和度指数≥3% 以及睡眠效率、呼吸觉醒指数和总睡眠时间值均显着降低。

结论

与患有 OSA 的神经典型儿童相比，患有 LS 的患者表现出明显更多的与睡眠相关的心肺功能障碍和睡眠片段化。鉴于这些发现可能对健康和发育有害，应鼓励对具有类似情况的患者进行睡眠评估以进行早期管理。