Dodet Pauline, Sanapo Federica, Leu-Semenescu Smaranda, Coupaye Muriel, Bellicha Alice, Arnulf Isabelle, Poitou Christine, Redolfi Stefania
Centre de Référence des Narcolepsies et Hypersomnies Rares, Service des Pathologies du Sommeil (Département R3S), Hôpital la Pitié-Salpêtrière, APHP-Sorbonne, 75013 Paris, France.
Institut du Cerveau (ICM), INSERM, CNRS, Hôpital la Pitié-Salpêtrière, Sorbonne University, 75013 Paris, France.
J Clin Med. 2022 Apr 2;11(7):1986. doi: 10.3390/jcm11071986.
Prader-Willi syndrome (PWS) is a rare, genetic, multisymptomatic, neurodevelopmental disease commonly associated with sleep alterations, including sleep-disordered breathing and central disorders of hypersomnolence. Excessive daytime sleepiness represents the main manifestation that should be addressed by eliciting the detrimental effects on quality of life and neurocognitive function from the patients' caregivers. Patients with PWS have impaired ventilatory control and altered pulmonary mechanics caused by hypotonia, respiratory muscle weakness, scoliosis and obesity. Consequently, respiratory abnormalities are frequent and, in most cases, severe, particularly during sleep. Adults with PWS frequently suffer from sleep apnoea syndrome, sleep hypoxemia and sleep hypoventilation. When excessive daytime sleepiness persists after adequate control of sleep-disordered breathing, a sleep study on ventilatory treatment, followed by an objective measurement of excessive daytime sleepiness, is recommended. These tests frequently identify central disorders of hypersomnolence, including narcolepsy, central hypersomnia or a borderline hypersomnolent phenotype. The use of wake-enhancing drugs (modafinil, pitolisant) is discussed in multidisciplinary expert centres for these kinds of cases to ensure the right balance between the benefits on quality of life and the risk of psychological and cardiovascular side effects.
普拉德-威利综合征（PWS）是一种罕见的遗传性多症状神经发育疾病，通常与睡眠改变有关，包括睡眠呼吸障碍和中枢性过度嗜睡症。日间过度嗜睡是主要表现，应通过向患者照料者了解其对生活质量和神经认知功能的有害影响来加以解决。PWS患者存在通气控制受损以及由肌张力减退、呼吸肌无力、脊柱侧弯和肥胖导致的肺力学改变。因此，呼吸异常很常见，且在大多数情况下较为严重，尤其是在睡眠期间。成年PWS患者经常患有睡眠呼吸暂停综合征、睡眠低氧血症和睡眠通气不足。当在充分控制睡眠呼吸障碍后日间过度嗜睡仍然持续时，建议进行通气治疗的睡眠研究，随后对日间过度嗜睡进行客观测量。这些检查经常能识别出中枢性过度嗜睡症，包括发作性睡病、中枢性嗜睡症或边缘性过度嗜睡表型。对于这类病例，多学科专家中心会讨论使用促醒药物（莫达非尼、匹托利生），以确保在生活质量获益与心理和心血管副作用风险之间取得恰当平衡。
