中国脊髓性肌萎缩症患者的康复治疗：一项全国性横断面研究。

Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.

机构信息

Department of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, 400014, China.

出版信息

Orphanet J Rare Dis. 2024 Jul 25;19(1):279. doi: 10.1186/s13023-024-03291-x.

DOI:10.1186/s13023-024-03291-x

PMID:39060931

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11282710/

Abstract

BACKGROUND

The management of Spinal Muscular Atrophy (SMA) requires a multidisciplinary treatment approach, wherein rehabilitation constitutes an integral element. In this study, we examined the effects of rehabilitation among Chinese SMA patients and assessed the real-world efficacy of rehabilitation interventions.

METHODS

We conducted a cross-sectional online survey on SMA patients from June 9, 2023, to June 30, 2023, through the Meier Advocacy & Support Center using data from the Center's database and electronic questionnaires. The rehabilitation situation of the participants over the past 14 months were investigated. Logistic binary regression was used to analyze the relationship between Pediatric Quality of Life Inventory(PedsQL™) scores and rehabilitation.

RESULT

A total of 186 questionnaires were finally analyzed. Only 29 patients did not rehabilitated in the past 14 months. A significant correlation between age and type of rehabilitation, as well as between age and duration of rehabilitation. Patients receiving no rehabilitation or solely home-based rehabilitation exhibited a higher median age of 8.4 compared to those undergoing standard rehabilitation or a combination of standard and home-based rehabilitation, with a median age of 4.9 (z-score = -4.49, p-value < 0.001). In addition, long-term rehabilitation (OR = 0.314, 95%CI = 0.106-0.927, p = 0.04) were negatively correlated with lower PedsQL™ Neuromuscular Module scores, and PedsQL scores in the long-term rehabilitation group were higher than those in the short-term and no-rehabilitation groups (54.2 ± 15.1 vs. 45.9 ± 14.4 and 42.3 ± 14.3, p = 0.01), with the most significant difference observed in the physical function section (59.0 ± 15.8 vs. 46.8 ± 15.2 and 45.6 ± 15.9, p < 0.01). Mobility and exercise (OR = 0.26, 95%CI = 0.08-0.81, p = 0.02), as well as assistive technology (OR = 0.28, 95%CI = 0.10-0.82, p = 0.02), were independently associated with a lower score in a negative direction.

CONCLUSION

The study found that long-term rehabilitation was linked to higher PedsQL scores in SMA patients, highlighting the need for standardized rehabilitation programs to enhance function and quality of life.

摘要

背景

脊髓性肌萎缩症（SMA）的管理需要多学科治疗方法，其中康复是一个重要组成部分。本研究旨在探讨中国 SMA 患者的康复情况，并评估康复干预的真实世界疗效。

方法

我们于 2023 年 6 月 9 日至 6 月 30 日通过迈尔倡导与支持中心（Meier Advocacy & Support Center），利用该中心数据库和电子问卷，对 SMA 患者进行了一项横断面在线调查。调查了参与者在过去 14 个月的康复情况。采用逻辑二元回归分析 PedsQL™量表评分与康复之间的关系。

结果

最终共分析了 186 份问卷。仅有 29 名患者在过去 14 个月内没有进行康复治疗。年龄与康复类型以及年龄与康复持续时间之间存在显著相关性。未接受康复治疗或仅接受家庭康复治疗的患者中位年龄为 8.4 岁，而接受标准康复或标准和家庭康复相结合的患者中位年龄为 4.9 岁（z 分数=-4.49，p 值<0.001）。此外，长期康复（OR=0.314，95%CI=0.106-0.927，p=0.04）与较低的 PedsQL™神经肌肉模块评分呈负相关，长期康复组的 PedsQL 评分高于短期康复组和未康复组（54.2±15.1 vs. 45.9±14.4 和 42.3±14.3，p=0.01），在生理功能方面差异最显著（59.0±15.8 vs. 46.8±15.2 和 45.6±15.9，p<0.01）。运动和锻炼（OR=0.26，95%CI=0.08-0.81，p=0.02）以及辅助技术（OR=0.28，95%CI=0.10-0.82，p=0.02）与评分呈负相关，独立相关。