遗传性共济失调患儿一例报道及康复治疗体会

A Child with Hereditary Ataxia and Rehabilitation Treatment Experience

遗传性共济失调是一大类具有高度临床和遗传异质性且病死率、病残率较高的遗传性神经系统退行性疾病,占神经系统遗传性疾病的10%～15%,以小脑共济失调为主要特征。本文报道的1例遗传性共济失调患儿出现饮水偶有呛咳,言语不清,音调高亢,不能独立完成坐站,又因步行障碍加重,临床疗效不佳需进行康复治疗。笔者所在医院采用《国际功能残疾和健康分类儿童和青少年版》(ICF-CY)理念对患儿身体结构与功能、活动与参与、环境因素和个人因素进行康复问题评估;制定加强平衡控制、步行转移、上肢作业、环境适应为重点的康复计划;以预防并发症、延缓功能障碍和继发损伤、实现日常生活基本自理为主要康复目标。康复治疗30 d后患儿运动功能、感觉能力、平衡能力、协调能力、构音障碍、吞咽功能及日常生活能力均有效改善,ICF评分为68分。

Hereditary ataxia is a wide class of hereditary neurodegenerative disease(accounting for 10% to 15%),with high clinical and genetic heterogeneity,relatively high fatality rate and disability rate,and its key feature is cerebellar ataxia. This paper reported a child with hereditary ataxia,who mainly performed as accidental irritating cough of drinking water,alalia,high-pitched tone,dependent sit and stand,and then received rehabilitation treatment due to exacerbation of dysbasia and poor curative effect. We evaluated the rehabilitation related problems according to International Classification of Functional Disabilities and Health for Children and Adolescents(ICF-CY) concept,including body structure and function,activities and participation,environmental and personal factors,take strengthening of balance control,walking transfer,upper limb operation and environmental adaptation as key points,take prevention of complications,delay of dysfunction and secondary injury,and realizing of independent daily life as main rehabilitation treatment goals;30 days after rehabilitation treatment,motor function,sensory ability, balance ability,coordination ability,dysarthria,swallowing function and daily living ability of the child effectively improved,and IFC score was 68.