■延髓症状的表现,尤其是吞咽,对于评估脊髓性肌萎缩症(SMA)的疾病改善疗法很重要。由于缺乏仪器,该主题在研究中仍然代表性不足。
■本研究旨在开发一种工具来监测0至24个月患有SMA的儿童的吞咽发育。
■该方法以COSMIN指南为指导,并遵循多阶段Delphi过程。第一步是快速审查24个月以下SMA儿童的吞咽结果。第二步,进行了关于婴儿吞咽困难的专家(n=7)的在线小组访谈,随后是SMA婴儿专家的匿名在线调查(n=19)。名义缩放投票的预定义共识阈值设置为≥75%,5点Likert缩放投票的四分位数范围为1.25。第三步是仪器的中试,对三组进行(健康对照组n=8;症状前n=6,有症状n=6)。
■基于多层次的跨专业共识,DySMA包括两个部分(历史和检查),十类,36个项目实施和评分清晰,易于实施。初步测试表明,吞咽发育可以记录在所有组中。
■DySMA非常适合监测症状前和症状治疗的SMA婴儿的吞咽发育。它可以以时间高效和跨专业的方式进行。所得分数与测量其他域的其他仪器的结果相当,例如,运动功能。
UNASSIGNED: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented in research.
UNASSIGNED: This study aimed to develop a tool to monitor swallowing development in children aged 0 to 24 months with SMA.
UNASSIGNED: The method was guided by the COSMIN
guidelines and followed a multi-stage Delphi process. The first step was a rapid review of swallowing outcomes in children with SMA younger than 24 months. In the second step, online group interviews with experts (n = 7) on dysphagia in infants were conducted, followed by an anonymous online survey among experts in infants with SMA (n = 19). A predefined
consensus threshold for nominal scaled voting was set at≥75 % and for 5-point Likert scale voting at 1.25 of the interquartile range. The third step was the pilot test of the instrument, performed with three groups (healthy controls n = 8; pre-symptomatic n = 6, symptomatic n = 6).
UNASSIGNED: Based on the multi-level interprofessional
consensus, the DySMA comprises two parts (history and examination), ten categories, with 36 items. Implementation and scoring are clearly articulated and easy to implement. The pilot test showed that swallowing development could be recorded in all groups.
UNASSIGNED: The DySMA is well suited for monitoring swallowing development in pre-symptomatic and symptomatic treated infants with SMA. It can be performed in a time-efficient and interprofessional manner. The resulting score is comparable to results from other instruments measuring other domains, e.g., motor function.