Pediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Meyer Children's University Hospital, IRCCS, Florence, Italy.
Pediatr Pulmonol. 2024 Jul;59(7):1970-1978. doi: 10.1002/ppul.27030. Epub 2024 May 9.
Despite the publication of the 2020 guidelines on how to manage Rett Syndrome (RS), some fundamental topics are still open, in particular respiratory problems.
Identification and reinforcement of current recommendations concerning the management of respiratory issues in RS patients.
Using a Delphi approach, the leading group reviewed the literature and formulated 14 statements. A multidisciplinary panel of 29 experts were invited to score, for each statement, their agreement on a 1-5 scale. The cut-off level for consensus was 75%, obtained through multiple rounds.
The panel agreed that in all RS types, respiratory issues should be faced at an early stage, regardless of epilepsy onset. It is recommended to perform periodically sleep studies in all Congenital Rett Syndrome, and in selected cases with other RS types. Noninvasive ventilation should be considered in all RS subjects with sleep respiratory disorders and in those with hypotonia associated with hypercapnia. Chest physiotherapy should be performed in all RS patients with difficult management of the accumulation of respiratory secretions, using airway clearance techniques and devices (PEP-mask, AMBU bag, or cough machine), more appropriate and tolerated by the patients. The panel recommended individualized programs for the management of scoliosis, and to consider performing gastrostomy in patients at increased risk of ab ingestis pneumonia.
This consensus could support everyday clinical practice on respiratory issues in RS patients, complementary to existing recommendations by regulatory agencies and guidelines.
尽管 2020 年发布了关于如何管理雷特综合征（RS）的指南，但仍有一些基本问题尚未解决，特别是呼吸问题。
确定并加强有关 RS 患者呼吸问题管理的现行建议。
使用 Delphi 方法，专家组审查了文献并提出了 14 项陈述。邀请了一个由 29 名专家组成的多学科小组，对每个陈述进行评分，评分范围为 1-5 分，同意程度为 75%。
专家组一致认为，在所有 RS 类型中，无论癫痫发作与否，都应尽早处理呼吸问题。建议对所有先天性 RS 患者定期进行睡眠研究，并对其他 RS 类型的选定病例进行研究。所有存在睡眠呼吸障碍和伴有高碳酸血症的低张力的 RS 患者都应考虑使用无创通气。所有有呼吸道分泌物积聚难以处理的 RS 患者都应进行胸部物理治疗，使用气道清除技术和设备（PEP 口罩、AMBU 袋或咳嗽机），这些技术和设备对患者更合适且更耐受。专家组建议制定个体化的脊柱侧凸管理方案，并考虑对有吸入性肺炎风险增加的患者进行胃造口术。
该共识可支持 RS 患者呼吸问题的日常临床实践，补充监管机构和指南中的现有建议。
