ABSTRACT

Background: Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT.

Methods: Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. Goal Attainment Scaling was used to evaluate progress and a parental satisfaction questionnaire was administered.

Results: Four goals were established for each participant and progress was greater than would be expected in 16 of 20 goals. Parents evaluated the program as feasible and useful for their daughters.

Discussion: A telehealth model of home-based intervention supported individuals with RTT to achieve gross motor skills and was found to be feasible. This model is important at present times during COVID-19 outbreak and lockdown.

摘要

背景：Rett 综合征 (RTT) 是一种与严重残疾相关的遗传性神经发育障碍。我们评估了支持 RTT 中粗大运动技能的远程医疗计划的可行性。

方法：对五名 RTT 女孩进行了评估，并针对功能目标制定了一项以家庭为基础的锻炼计划。然后，家庭参加了为期 6 个月的每月 Skype 会议，在物理治疗师的指导下监测进展并根据需要调整计划。目标实现量表用于评估进度，并进行了家长满意度问卷调查。

结果：为每位参与者设定了四个目标，并且在 20 个目标中的 16 个目标中取得的进展大于预期。父母认为该计划对他们的女儿可行和有用。

讨论：基于家庭干预的远程医疗模式支持 RTT 患者获得粗大运动技能，并被证明是可行的。目前，在 COVID-19 爆发和封锁期间，此模型很重要。