Abstract：
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied.
METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected.
RESULTS: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively.
CONCLUSIONS: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.
METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected.
RESULTS: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively.
CONCLUSIONS: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.
摘要：
背景：Rett综合征（RS）是一种严重的神经发育障碍，与清醒时呼吸异常和夜间行为紊乱有关。已广泛报道了白天的呼吸异常，但对多导睡眠图（PSG）的发现研究甚少。
方法：连续携带MECP2基因突变的RS患者，在2014年10月至2018年1月期间接受PSG的患者被纳入研究.收集临床和PSG数据。
结果：17名RS女孩，平均年龄9.5±2.8岁，包括在研究中。平均总睡眠时间为366±102分钟。平均睡眠效率降低（66±19％），只有3个女孩的睡眠效率高于80％。睡眠发作后的唤醒增加（33±20％），唤醒指数为7±6事件/小时。睡眠阶段改变了正常的N1（2±3％），a减少N2(34±20%)，N3增加（51±23％），REM睡眠减少（12±9％）。平均呼吸暂停低通气指数（AHI）在19±37事件/小时时增加，以阻塞性事件为主。13名患者的AHI>1.5事件/小时。四名患者的阻塞性AHI>10事件/小时，其中一名患者患有相关的扁桃体肥大。两名患者患有主要的重度中枢神经性呼吸暂停（中央AHI53和132事件/小时），分别通过无创通气和夜间氧疗解决。
结论：患有RS的女孩睡眠质量差，慢波和REM睡眠阶段发生变化。阻塞性呼吸事件在没有腺扁桃体肥大的患者中并不常见。中枢呼吸事件很少见。纵向研究应有助于了解RS中睡眠障碍的自然史及其与神经认知能力下降的关系。
方法：连续携带MECP2基因突变的RS患者，在2014年10月至2018年1月期间接受PSG的患者被纳入研究.收集临床和PSG数据。
结果：17名RS女孩，平均年龄9.5±2.8岁，包括在研究中。平均总睡眠时间为366±102分钟。平均睡眠效率降低（66±19％），只有3个女孩的睡眠效率高于80％。睡眠发作后的唤醒增加（33±20％），唤醒指数为7±6事件/小时。睡眠阶段改变了正常的N1（2±3％），a减少N2(34±20%)，N3增加（51±23％），REM睡眠减少（12±9％）。平均呼吸暂停低通气指数（AHI）在19±37事件/小时时增加，以阻塞性事件为主。13名患者的AHI>1.5事件/小时。四名患者的阻塞性AHI>10事件/小时，其中一名患者患有相关的扁桃体肥大。两名患者患有主要的重度中枢神经性呼吸暂停（中央AHI53和132事件/小时），分别通过无创通气和夜间氧疗解决。
结论：患有RS的女孩睡眠质量差，慢波和REM睡眠阶段发生变化。阻塞性呼吸事件在没有腺扁桃体肥大的患者中并不常见。中枢呼吸事件很少见。纵向研究应有助于了解RS中睡眠障碍的自然史及其与神经认知能力下降的关系。
