1型脊髓性肌萎缩症儿童吞咽障碍的管理：范围综述

文献信息

中文摘要

目的： 1型脊髓性肌萎缩症（SMA1）是一种罕见的常染色体隐性遗传神经肌肉疾病，表现为进行性肌无力和萎缩。吞咽困难在SMA1患儿中常见，其并发症也常有报道。本范围综述旨在描述该人群吞咽障碍的管理。
方法： 遵循系统评价和Meta分析首选报告条目指南，检索了四个电子数据库（PubMed、Embase、CINAHL和Cochrane Library）中关于SMA1患儿的研究。我们调查了SMA1患儿吞咽障碍的管理，包括用于评估吞咽和喂养的方法和方案，以及治疗选择。纳入研究的质量使用乔安娜布里格斯研究所清单进行评估；两名独立研究人员进行研究选择和数据提取。
结果： 共纳入38项研究，涉及1,784例SMA1患者。吞咽评估采用仪器方法（柔性内镜吞咽评估和视频荧光吞咽研究）和临床评估，并确定了一个针对儿科SMA的验证方案（口腔和吞咽能力工具）。吞咽启动延迟、口腔功能障碍、咽部残留和误吸常有报道。经皮内镜下胃造瘘术用于严重吞咽困难、营养不良和发育迟缓的病例。很少有研究报告关于代偿策略和康复治疗的信息。
结论： 需要进一步研究以标准化吞咽评估方法，并评估SMA1患儿康复和代偿干预的有效性。

英文摘要

PURPOSE: Spinal muscular atrophy Type 1 (SMA1) is a rare autosomal recessive neuromuscular disorder with progressive muscle weakness and atrophy. Dysphagia is common among children with SMA1, and its complications are frequently documented. This scoping review aimed to describe the management of swallowing disorders in this population.
METHOD: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, four electronic databases were searched (PubMed, Embase, CINAHL, and Cochrane Library) for studies on children with SMA1. We investigated the management of swallowing disorders in children with SMA1, including methods and protocols used to assess swallowing and feeding, and treatment option. The quality of included studies was assessed using the Joanna Briggs Institute checklists; two independent researchers conducted study selection and data extraction.
RESULTS: Thirty-eight studies with a total of 1,784 SMA1 patients were included. Swallowing was evaluated using instrumental methods (flexible endoscopic evaluation of swallowing and videofluoroscopic swallowing study) and clinical assessments, with one validated protocol identified for pediatric SMA (Oral and Swallowing Abilities Tool). Delayed initiation of swallowing, oral impairment, pharyngeal residues, and aspiration were frequently reported. Percutaneous endoscopic gastrostomy was used in cases of severe dysphagia, malnutrition, and failure to thrive. Few studies reported information on compensatory strategies and rehabilitative treatments.
CONCLUSION: Further research is needed to standardize swallowing assessment approaches and to evaluate the effectiveness of rehabilitative and compensatory interventions in children with SMA1.
SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.33746656.