中国康复理论与实践2025，Vol.31Issue(12)：1450-1455,6.DOI:10.3969/j.issn.1006-9771.2025.12.009
疾病修正治疗下5q脊髓性肌萎缩患儿康复现状横断面调查
Status of rehabilitation for children with 5q spinal muscular atrophy in disease-modifying treatment:a cross-sec-tional survey
摘要
Abstract
Objective To investigate the situation and related needs of rehabilitation for children with 5q spinal muscular atrophy(SMA)treated with disease-modifying treatment. Methods From February,2020 to February,2025,the children with 5q SMA were included,who visited Children's Hos-pital Affiliated to Shandong University and received Nusinersen or Risdiplam for more than three months.QR code was used to distribute electronic survey questionnaires.The basic information,rehabilitation status and reha-bilitation needs were investigated. Results A total of 165 electronic questionnaires were collected with 152 valid ones.There were 78 males and 74 females with an average age of(6.99±5.19)years.Regarding the current rehabilitation status,105 cases(69.08%)re-ceived regular rehabilitation at professional institutions,with a similar proportion(106 cases,69.74%)perform-ing regular joint stretching;the weekly rehabilitation duration was predominantly distributed as≥7 hours(71 cas-es,46.71%)and<1 hour(32 cases,21.05%),showing a"concentrated or insufficient"pattern;only 53 cases(34.87%)engaged in regular aerobic exercise,and merely 34 cases(22.37%)could complete rehabilitation train-ing independently,while 136 cases(89.47%)required supervision and assistance from family members.A total of 21 cases(13.82%)were dissatisfied with the rehabilitation outcomes.The main rehabilitation challenges included economic issues(62.50%)and lack of professional rehabilitation resources(59.87%).The primary rehabilitation needs were professional rehabilitation training and guidance(48.03%)and financial support(42.76%). Conclusion There is an extensive range of rehabilitation needs in children with 5q SMA undergoing disease-modifying treatment.The main problems included economic issues,insufficient time of the caregivers and the lack of profes-sional rehabilitation therapists and institutions.Economic assistance and professional rehabilitation guidance are urgent needs for parents of SMA children.关键词
脊髓性肌萎缩/康复需求/问卷调查/疾病修正治疗Key words
spinal muscular atrophy/rehabilitation needs/questionnaire/disease-modifying treatment分类
医药卫生引用本文复制引用
郭晓华,王杰,黄艳,马凯..疾病修正治疗下5q脊髓性肌萎缩患儿康复现状横断面调查[J].中国康复理论与实践,2025,31(12):1450-1455,6.基金项目
济南市卫生健康委员会科技发展计划项目(No.2024304030) Supported by Science and Technology Development Program of Ji'nan Municipal Health Commission(No.2024304030) （No.2024304030）
