Unit of Child Neuropsychiatry, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Sleep Med Rev. 2021 Jun;57:101432. doi: 10.1016/j.smrv.2021.101432. Epub 2021 Jan 20.
Prader-Willi Syndrome (PWS) is a complex genetic disorder with multiple cognitive, behavioral and endocrine dysfunctions. Sleep alterations and sleep disorders such as Sleep-disordered breathing and Central disorders of hypersomnolence are frequently recognized (either isolated or in comorbidity). The aim of the review is to highlight the pathophysiology and the clinical features of sleep disorders in PWS, providing the basis for early diagnosis and management. We reviewed the genetic features of the syndrome and the possible relationship with sleep alterations in animal models, and we described sleep phenotypes, diagnostic tools and therapeutic approaches in humans. Moreover, we performed a meta-analysis of cerebrospinal fluid orexin levels in patients with PWS; significantly lower levels of orexin were detected in PWS with respect to control subjects (although significantly higher than the ones of narcoleptic patients). Sleep disorders in humans with PWS are multifaceted and are often the result of different mechanisms. Since hypothalamic dysfunction seems to partially influence metabolic, respiratory and sleep/wake characteristics of this syndrome, additional studies are required in this framework.
普拉德-威利综合征（PWS）是一种复杂的遗传疾病，伴有多种认知、行为和内分泌功能障碍。睡眠改变和睡眠障碍，如睡眠呼吸障碍和中枢性嗜睡症，经常被认识到（无论是单独存在还是共病存在）。本综述的目的是强调 PWS 中睡眠障碍的病理生理学和临床特征，为早期诊断和治疗提供基础。我们回顾了该综合征的遗传特征以及在动物模型中与睡眠改变的可能关系，并描述了人类的睡眠表型、诊断工具和治疗方法。此外，我们对 PWS 患者的脑脊液食欲素水平进行了荟萃分析；与对照组相比，PWS 患者的食欲素水平显著降低（尽管明显高于发作性睡病患者）。PWS 患者的睡眠障碍是多方面的，通常是多种机制共同作用的结果。由于下丘脑功能障碍似乎部分影响了该综合征的代谢、呼吸和睡眠/觉醒特征，因此需要在这一框架内进行更多的研究。
