Richards A, Quaghebeur G, Clift S, Holland A, Dahlitz M, Parkes D
Department of Otolaryngology, King's College Hospital, London, UK.
Clin Otolaryngol Allied Sci. 1994 Jun;19(3):193-7. doi: 10.1111/j.1365-2273.1994.tb01213.x.
Obesity, short stature, hypotonia and excessive daytime sleepiness are characteristic features of the Prader-Willi syndrome. Excessive daytime sleepiness has been attributed to obstructive sleep apnoea (OSA). To investigate the role of anatomical factors in OSA in the Prader-Willi syndrome, clinical and ENT assessment, radiology of the upper airway and polysomnography including sleep oximetry were done in 14 subjects. Excessive daytime sleepiness was present in eight of 14 subjects as determined by a mean sleep latency to non-rapid eye movement stage I-II of < 5 min and/or self-rating sleepiness score > 9 (Epworth Sleepiness scale). Seven subjects were snorers or mouth breathers and dental abnormalities were present in 11. Sleep apnoea, as determined by a combined apnoea-hypopnoea index of more than 10 respiratory events per hour was present in 12 of 14 subjects. On clinical assessment, the nasopharynx, oropharynx and hypopharynx were small in one subject. No subject had redundant pharyngeal mucosa or an enlarged tongue. However, radiological studies performed in the awake supine posture showed a slight reduction in the cross-sectional area in nine subjects at the oropharyngeal level and in four subjects at the nasopharyngeal level as compared with normal control subjects. Sleep apnoea and minor radiological evidence of narrowing of the upper airway are common in the Prader-Willi syndrome, although clinical otolaryngological examination is often unremarkable. Excessive daytime sleepiness occurs in approximately 50% of all patients with Prader-Willi syndrome. Although obstructive sleep apnoea is one important factor related to sleepiness, an additional central disturbance of sleep mechanisms is present.
肥胖、身材矮小、肌张力减退和日间过度嗜睡是普拉德-威利综合征的典型特征。日间过度嗜睡被认为与阻塞性睡眠呼吸暂停（OSA）有关。为了研究解剖学因素在普拉德-威利综合征OSA中的作用，对14名受试者进行了临床和耳鼻喉科评估、上气道放射学检查以及包括睡眠血氧饱和度测定在内的多导睡眠图检查。根据非快速眼动睡眠I-II期的平均睡眠潜伏期<5分钟和/或自我评定的嗜睡评分>9（爱泼华嗜睡量表），14名受试者中有8名存在日间过度嗜睡。7名受试者打鼾或口呼吸，11名存在牙齿异常。根据每小时呼吸事件合并呼吸暂停-低通气指数超过10次来确定，14名受试者中有12名存在睡眠呼吸暂停。临床评估显示，1名受试者的鼻咽、口咽和下咽较小。没有受试者有咽部黏膜冗余或舌头肿大。然而，在清醒仰卧位进行的放射学研究显示，与正常对照受试者相比，9名受试者的口咽水平和4名受试者的鼻咽水平的横截面积略有减小。睡眠呼吸暂停和上气道狭窄的轻微放射学证据在普拉德-威利综合征中很常见，尽管临床耳鼻喉科检查通常无明显异常。大约50%的普拉德-威利综合征患者会出现日间过度嗜睡。虽然阻塞性睡眠呼吸暂停是与嗜睡相关的一个重要因素，但还存在额外的睡眠机制中枢性紊乱。
