Marcus C L, Carroll J L, McColley S A, Loughlin G M, Curtis S, Pyzik P, Naidu S
Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, MD.
J Pediatr. 1994 Aug;125(2):218-24. doi: 10.1016/s0022-3476(94)70196-2.
During wakefulness, patients with Rett syndrome have disordered breathing. To understand further this ventilatory control disorder, we performed polysomnography in 30 patients with Rett syndrome and 30 control subjects (female subjects with primary snoring). The median age was 7 years (range, 1 to 32 years) for Rett syndrome and 6 years (range, 1 to 17 years) for control subjects. During periods of wakefulness, 67% of patients with Rett syndrome had the characteristic pattern of disordered breathing (i.e., episodes of hyperventilation followed by central apnea and desaturation). No such events occurred during sleep. Sleep efficiency and sleep architecture were similar for both groups. During sleep, there was no difference in duration of periodic breathing, number of episodes of central apnea with desaturation, or number of episodes of obstructive apnea or end-tidal carbon dioxide tension between the two groups. Although arterial oxygen saturation during rapid eye movement (REM) sleep was slightly lower in patients with Rett syndrome (nadir, 94% +/- 2% vs 96% +/- 2%), it remained within the normal range. Parental history reflected the awake respiratory findings in most cases. We conclude that patients with Rett syndrome have normal breathing during non-rapid eye movement (NREM) sleep. We speculate that patients with Rett syndrome have normal brain-stem control of ventilation, and that the disordered breathing seen during wakefulness is due to an abnormality of the cortical influence on ventilation.
在清醒状态下，雷特综合征患者存在呼吸紊乱。为了进一步了解这种通气控制障碍，我们对30例雷特综合征患者和30名对照受试者（原发性打鼾的女性受试者）进行了多导睡眠图检查。雷特综合征患者的中位年龄为7岁（范围1至32岁），对照受试者为6岁（范围1至17岁）。在清醒期间，67%的雷特综合征患者具有呼吸紊乱的特征性模式（即过度通气发作后接着是中枢性呼吸暂停和血氧饱和度下降）。睡眠期间未发生此类事件。两组的睡眠效率和睡眠结构相似。睡眠期间，两组之间的周期性呼吸持续时间、伴有血氧饱和度下降的中枢性呼吸暂停发作次数、阻塞性呼吸暂停发作次数或呼气末二氧化碳分压均无差异。尽管雷特综合征患者在快速眼动（REM）睡眠期间的动脉血氧饱和度略低（最低点，94%±2%对96%±2%），但仍在正常范围内。大多数情况下，父母的病史反映了清醒时的呼吸情况。我们得出结论，雷特综合征患者在非快速眼动（NREM）睡眠期间呼吸正常。我们推测，雷特综合征患者脑干对通气的控制正常，清醒时出现的呼吸紊乱是由于皮质对通气的影响异常所致。
