Glaze D G, Frost J D, Zoghbi H Y, Percy A K
Ann Neurol. 1987 Apr;21(4):377-82. doi: 10.1002/ana.410210410.
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washing) and to exhibit intermittent hyperventilation. To characterize more precisely the sleep and respiratory patterns associated with this disorder, polygraphic studies were made during sleep and wakefulness in 11 patients with this syndrome. These studies showed abnormal respiratory patterns during wakefulness, and abnormal sleep and electroencephalographic characteristics. The patients had decreased percentages of rapid-eye-movement sleep, and during wakefulness, a pattern of disorganized breathing was observed in all 11 patients and consisted of hypoxia followed by a period of increased respiratory rate and effort. The occurrence of disorganized breathing and compensatory hyperpnea during wakefulness with regular, continuous breathing during sleep is characteristic of Rett's syndrome and suggests an altered or impaired voluntary/behavioral respiratory control system.
瑞特综合征是一种发生于女性的进行性疾病，其特征为自闭症行为、痴呆、共济失调、手部目的性使用丧失以及癫痫发作。已观察到瑞特综合征患者存在刻板的手部动作（洗手动作）并表现出间歇性换气过度。为更精确地描述与该疾病相关的睡眠和呼吸模式，对11例患有此综合征的患者在睡眠和清醒状态下进行了多导睡眠图研究。这些研究显示清醒时呼吸模式异常，睡眠和脑电图特征也异常。患者快速眼动睡眠百分比降低，在清醒状态下，所有11例患者均观察到呼吸紊乱模式，表现为缺氧，随后是呼吸频率和用力增加的一段时间。清醒时出现呼吸紊乱和代偿性呼吸急促，而睡眠时呼吸规律、持续，这是瑞特综合征的特征，提示自主/行为呼吸控制系统发生改变或受损。
