儿童脑白质营养不良的吞咽与喂养特征：22例回顾性分析

文献信息

中文摘要

引言： 吞咽困难是脑白质营养不良患儿中常见且可能危及生命的症状。然而，关于脑白质营养不良中吞咽困难的报道很少。本研究旨在描述该人群的吞咽与喂养特征。
方法： 我们回顾性审查了22例因吞咽评估转诊的脑白质营养不良患儿的病历。疾病严重程度由儿童神经科医生根据若干功能量表确定。根据儿科功能性经口摄食量表（P-FOIS）和国际吞咽困难饮食标准化倡议功能性饮食量表（IDDSI-FDS）收集喂养方式和饮食类型数据，并与疾病严重程度进行相关性分析。从临床和/或仪器吞咽检查中记录吞咽困难或喂养障碍的临床体征及相关机制。
结果： 除一名儿童外，所有儿童均完全经口营养，尽管50%需要质地改良，18.1%在进餐时需要代偿策略。P-FOIS和IDDSI-FDS与所有神经功能量表显著相关（r = |0.430-0.886|）。16名儿童（72.7%）表现出吞咽困难，7名儿童（31.8%）有行为性喂养障碍的体征。吞咽困难的机制包括口腔控制差（36%）、口腔准备受损（27%）、口腔转运受损（23%）、气道保护减弱（9%）和咽期延长（5%）。5名患者（22.7%）有吸入性肺炎病史。
结论： 在我们队列中，吞咽困难似乎主要以口腔期改变为特征，而咽期通常保留，但由于呼吸系统并发症的高发生率，应仔细监测。饮食限制与神经严重程度相关，尽管完全经口饮食通常可行。

英文摘要

INTRODUCTION: Dysphagia is a frequent and potentially life-threating symptom in children affected by leukodystrophies. However, reports on dysphagia in leukodystrophies are scarce. The study aimed to characterize swallowing and feeding in this population.
METHODS: We retrospectively reviewed the medical charts of 22 children with leukodystrophies referred for swallowing evaluation. The severity of the disease was determined by a child neurologist according to several functional scales. Data on feeding modality and diet type according to the Pediatric Functional Oral Intake Scale (P-FOIS) and the International Dysphagia Diet Standardization Initiative Functional Diet Scale (IDDSI-FDS) were collected and correlated with the severity of the disease. Presence of clinical signs of dysphagia or feeding disorders and related mechanisms were recorded from clinical and/or instrumental swallow examinations.
RESULTS: All children except one had full oral nutrition, although 50% required texture modifications and 18.1% required compensatory strategies during meals. P-FOIS and IDDSI-FDS significantly correlated with all neurological functional scales (r = |0.430-0.886|). Sixteen children (72.7%) exhibited dysphagia, and 7 children (31.8%) had signs of behavioural feeding disorder. Mechanisms of dysphagia were poor oral control (36%), impaired oral preparation (27%), impaired oral transport (23%), reduced airway protection (9%), and prolonged pharyngeal phase (5%). Five patients (22.7%) had a history of aspiration pneumonia.
CONCLUSION: Dysphagia in our cohort seemed mainly characterized by alterations in the oral phase, whereas pharyngeal phase was often preserved, but should be carefully monitored due to the high prevalence of respiratory complications. Diet restrictions were correlated with the neurological severity, although full-oral diet was often possible.