Abstract：
BACKGROUND: Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation.
METHODS: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022.
RESULTS: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO2) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO2 (mean PtcCO2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation).
CONCLUSIONS: Noninvasive ventilation is a suitable option for patients with Rett syndrome.
METHODS: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022.
RESULTS: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO2) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO2 (mean PtcCO2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation).
CONCLUSIONS: Noninvasive ventilation is a suitable option for patients with Rett syndrome.
摘要：
背景：Rett综合征是一种与多种合并症相关的进行性神经系统疾病，这些合并症显著影响肺功能。呼吸系统疾病是该人群死亡的主要原因。关于无创通气的益处知之甚少。
方法：我们回顾性地纳入了Rett综合征患者，这些患者在2012年至2022年期间接受了肺部评估，并结合了心肺测功和/或脉搏血氧饱和度和二氧化碳图。
结果：11例Rett综合征患者的病历，平均年龄13±6岁，进行了评估。大多数患者同时表现为癫痫和脊柱侧凸。5例患者表现出病理性睡眠研究和/或夜间气体交换受损：平均阻塞性呼吸暂停低通气指数为4±3事件/小时；平均和最小SpO2为，分别,93%±2%和83%±6%，而平均和最大经皮二氧化碳监测(PtcCO2)是，分别,51±5mmHg和55±8mmHg；平均氧饱和度指数为13±11事件/小时。这些患者开始无创通气，临床受益，并且主要在PtcCO2方面改善了气体交换（无创通气前的平均PtcCO2为51±5mmHg，无创通气后的平均PtcCO2为46±6mmHg）。
结论：无创通气是Rett综合征患者的合适选择。
方法：我们回顾性地纳入了Rett综合征患者，这些患者在2012年至2022年期间接受了肺部评估，并结合了心肺测功和/或脉搏血氧饱和度和二氧化碳图。
结果：11例Rett综合征患者的病历，平均年龄13±6岁，进行了评估。大多数患者同时表现为癫痫和脊柱侧凸。5例患者表现出病理性睡眠研究和/或夜间气体交换受损：平均阻塞性呼吸暂停低通气指数为4±3事件/小时；平均和最小SpO2为，分别,93%±2%和83%±6%，而平均和最大经皮二氧化碳监测(PtcCO2)是，分别,51±5mmHg和55±8mmHg；平均氧饱和度指数为13±11事件/小时。这些患者开始无创通气，临床受益，并且主要在PtcCO2方面改善了气体交换（无创通气前的平均PtcCO2为51±5mmHg，无创通气后的平均PtcCO2为46±6mmHg）。
结论：无创通气是Rett综合征患者的合适选择。
