Camfferman Danny, Lushington Kurt, O'Donoghue Fergal, Doug McEvoy R
Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, Adelaide, South Australia, Australia.
Neuropsychol Rev. 2006 Sep;16(3):123-9. doi: 10.1007/s11065-006-9010-x.
Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by a range of physical, psychological, and physiological abnormalities. It is also distinguished by the high prevalence of obstructive sleep apnea syndrome (OSAS), i.e., repetitive upper airway collapse during sleep resulting in hypoxia and sleep fragmentation. In non-PWS populations, OSAS is associated with a range of neurocognitive and psychosocial deficits. Importantly, these deficits are at least partly reversible following treatment. Given the findings in non-PWS populations, it is possible that OSAS may contribute to neurocognitive and psychosocial deficits in PWS. The present review examines this possibility. While acknowledging a primary contribution from the primary genetic abnormality to central neural dysfunction in PWS, we conclude that OSAS may be an important secondary contributing factor to reduced neurocognitive and psychosocial performance. Treatment of OSAS may have potential benefits in improving neurocognitive performance and behavior in PWS, but this awaits confirmatory investigation.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，其特征是一系列身体、心理和生理异常。它还以阻塞性睡眠呼吸暂停综合征（OSAS）的高患病率为特征，即睡眠期间反复出现上呼吸道塌陷，导致缺氧和睡眠片段化。在非PWS人群中，OSAS与一系列神经认知和心理社会缺陷有关。重要的是，这些缺陷在治疗后至少部分是可逆的。鉴于非PWS人群的研究结果，OSAS有可能导致PWS患者出现神经认知和心理社会缺陷。本综述探讨了这种可能性。虽然承认原发性基因异常对PWS中枢神经功能障碍有主要影响，但我们得出结论，OSAS可能是导致神经认知和心理社会表现下降的一个重要次要因素。治疗OSAS可能对改善PWS患者的神经认知表现和行为有潜在益处，但这有待进一步的证实性研究。
