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

doi:10.3969/j.issn.1006-9771.2025.12.009

摘要/Abstract

摘要：

目的调查接受疾病修正治疗的5q脊髓性肌萎缩(SMA)患儿的康复现状和需求。
方法 2020年2月至2025年2月，选择山东大学附属儿童医院就诊的5q型SMA患儿，接受诺西那生钠或利司扑兰治疗超过3个月，采用电子二维码发放调查问卷。调查内容包括患儿基本信息、康复现状和康复需求。
结果共收到电子问卷165份，有效问卷152份，其中男性78例，女性74例，平均(6.99±5.19)岁。在康复现状方面，105例(69.08%)会定期到专业机构康复，且规律关节拉伸的比例(106例，69.74%)与之接近；每周康复时长以≥ 7 h (71例，46.71%)和< 1 h (32例，21.05%)占比较高，呈现“集中或不足”的分布；仅53例(34.87%)进行规律有氧运动，且仅34例(22.37%)能独自完成康复训练，136例(89.47%)需家人督导协助。21例(13.82%)对康复效果不满意。康复困难主要集中在经济问题(62.50%)和缺乏专业康复资源(59.87%)等方面。康复需求以专业康复培训指导(48.03%)和经济帮助(42.76%)为主。
结论接受疾病修正治疗的5q SMA患儿仍存在广泛的康复需求，经济问题、照看者时间不足和SMA专业康复师和康复机构的缺乏是患儿康复面临的主要问题。经济帮助和专业的康复培训指导是SMA患者家长的迫切需求。

关键词: 脊髓性肌萎缩, 康复需求, 问卷调查, 疾病修正治疗

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 Hospital 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 rehabilitation 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%) received regular rehabilitation at professional institutions, with a similar proportion (106 cases, 69.74%) performing regular joint stretching; the weekly rehabilitation duration was predominantly distributed as ≥ 7 hours (71 cases, 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 training 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 professional rehabilitation therapists and institutions. Economic assistance and professional rehabilitation guidance are urgent needs for parents of SMA children.

Key words: spinal muscular atrophy, rehabilitation needs, questionnaire, disease-modifying treatment

中图分类号:

R746.4

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.

GUO Xiaohua, WANG Jie, HUANG Yan, MA Kai. Status of rehabilitation for children with 5q spinal muscular atrophy in disease-modifying treatment: a cross-sectional survey[J]. Chinese Journal of Rehabilitation Theory and Practice, 2025, 31(12): 1450-1455.

图/表 4

表1

表2

表3

表4

参考文献 41

[1]	MA K, ZHANG K, CHEN D, et al. Real-world evidence: risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy[J]. Hum Mol Genet, 2024, 33(13): 1120-1130. doi: 10.1093/hmg/ddae052 pmid: 38520738
[2]	KIMIZU T, IDA S, OKAMOTO K, et al. Spinal muscular atrophy: diagnosis, incidence, and newborn screening in Japan[J]. Int J Neonatal Screen, 2021, 7(3): 45. doi: 10.3390/ijns7030045
[3]	毛姗姗, 冯艺杰, 徐璐, 等. 诺西那生钠修正治疗儿童脊髓性肌萎缩症随访分析[J]. 中华儿科杂志, 2022, 60(7): 688-693.
	MAO S S, FENG Y J, XU L, et al. Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy[J]. Chin J Pediatr, 2022, 60(7): 688-693.
[4]	马凯, 郭晓华, 于春梅, 等. 诺西那生钠治疗5q型脊髓性肌萎缩患儿68例病例系列报告[J]. 中国循证儿科杂志, 2023, 18(4): 286-290.
	MA K, GUO X H, YU C M, et al. Nusinersen treatment in 68 children with 5q spinal muscular atrophy: a case series report[J]. Chin J Evid Based Pediatr, 2023, 18(4): 286-290.
[5]	刘芳芳, 王杰, 郭晓华, 等. 利司扑兰单药治疗儿童脊髓性肌萎缩症随访1年的病例系列报告[J]. 中国循证儿科杂志, 2024, 9(2): 93-97.
	LIU F F, WANG J, GUO X H, et al. One year follow-up of Risdiplam monotherapy in children with spinal muscular atrophy: a case series report[J]. Chin J Evid Based Pediatr, 2024, 19(2): 93-97.
[6]	郭瑾, 武运红, 张临霞, 等. 诺西那生钠治疗脊髓性肌萎缩症儿童的临床分析[J]. 中国当代儿科杂志, 2024, 26(7): 743-749.
	GUO J, WU Y H, ZHANG L X, et al. Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy[J]. Chin J Contemp Pediatr, 2024, 26(7): 743-749.
[7]	MA K, WANG D, HU W, et al. Emphasis on the importance of comprehensive clinical and genetic analysis: spinal muscular atrophy combined with phenylketonuria: a case report[J]. Medicine (Baltimore), 2024, 103(31): e39076. doi: 10.1097/MD.0000000000039076
[8]	段浩林, 张慈柳, 杨丽芬, 等. 诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症10例并文献复习[J]. 中国当代儿科杂志, 2025, 27(4): 458-464.
	DUAN H L, ZHANG C L, YANG L F, et al. Nusinersen combined with risdiplam for the treatment of spinal muscular atrophy: a case series of 10 patients and literature review[J]. Chin J Contemp Pediatr, 2025, 27(4): 458-464.
[9]	冯艺杰, 余燚成, 颜悦, 等. 诺西那生钠治疗症状前脊髓性肌萎缩症患儿4例[J]. 中华儿科杂志, 2024, 62(8): 786-788.
	FENG Y J, YU Y C, YAN Y, et al. Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy[J]. Chin J Pediatr, 2024, 62(8): 786-788.
[10]	罗智强, 陈黎, 路新国, 等. 中国大陆首例症状前治疗脊髓性肌萎缩症患儿43月龄随访报告[J]. 临床儿科杂志, 2025, 43(1): 40-44.
	LUO Z Q, CHEN L, LU X G, et al. The treatment of the first case of presymptomatic spinal muscular atropy in the Chinese Mainland: a case report with 43 months follow-up[J]. J Clin Pediatr, 2025, 43(1): 40-44.
[11]	黄美欢, 曹建国, 韩春锡, 等. 脊髓性肌萎缩症的诊断及多学科综合管理进展[J]. 中华物理医学与康复杂志, 2020, 42(7): 665-670.
	HUANG M H, CAO J G, HAN C X, et al. Progress in diagnosis and multidisciplinary comprehensive management of spinal muscular atrophy[J]. Chin J Phys Med Rehabil, 2020, 42(7): 665-670.
[12]	北京医学会医学遗传学分会, 北京罕见病诊疗与保障学会. 脊髓性肌萎缩症遗传学诊断专家共识[J]. 中华医学杂志, 2020, 100(40): 3130-3140.
	Branch of Medical Genetics, Beijing Medical Association; Beijing Society for Diagnosis and Treatment of Rare Diseases. Expert consensus on the genetic diagnosis of spinal muscular atrophy[J]. Natl Med J Chin, 2020, 100(40): 3130-3140.
[13]	陈新宇, 吴士文. 进行性假肥大性肌营养不良患者康复现状调查[J]. 中国康复理论与实践, 2022, 28(9): 1089-1095. doi: 10.3969/j.issn.1006-9771.2022.09.013
	CHEN X Y, WU S W. Participation of rehabilitation for patients with Duchenne muscular dystrophy[J]. Chin J Rehabil Theory Pract, 2022, 28(9): 1089-1095.
[14]	LEFEBVRE S, BÜRGLEN L, REBOULLET S, et al. Identification and characterization of a spinal muscular atrophy-determining gene[J]. Cell, 1995, 80(1): 155-165. doi: 10.1016/0092-8674(95)90460-3 pmid: 7813012
[15]	HOY S M. Nusinersen: first global approval[J]. Drugs, 2017, 77(4): 473-479. doi: 10.1007/s40265-017-0711-7 pmid: 28229309
[16]	HOY S M. Onasemnogene abeparvovec: first global approval[J]. Drugs, 2019, 79(11): 1255-1262. doi: 10.1007/s40265-019-01162-5 pmid: 31270752
[17]	DHILLON S. Risdiplam: first approval[J]. Drugs, 2020, 80(17): 1853-1858. doi: 10.1007/s40265-020-01410-z pmid: 33044711
[18]	FERNANDES B D, KRUG B C, RODRIGUES F D, et al. Efficacy and safety of Onasemnogene Abeparvovec for the treatment of patients with spinal muscular atrophy type 1: a systematic review with meta-analysis[J]. PLoS One, 2024, 19(5): e0302860. doi: 10.1371/journal.pone.0302860
[19]	SHIN H I. Rehabilitation strategies for patients with spinal muscular atrophy in the era of disease-modifying therapy[J]. Ann Rehabil Med, 2024, 48(4): 229-238. doi: 10.5535/arm.240046
[20]	GROULX-BOIVIN E, OLIVEIRA-CARNEIRO A, CARLSON H, et al. Macrostructural brain abnormalities in spinal muscular atrophy: a case-control study[J]. Neurol Genet, 2024, 10(5): e200193. doi: 10.1212/NXG.0000000000200193
[21]	GÜNTHER R, WURSTER C D, BRAKEMEIER S, et al. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study[J]. Lancet Reg Health Eur, 2024, 39: 100862.
[22]	DE VIVO D C, BERTINI E, SWOBODA K J, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study[J]. Neuromuscul Disord, 2019, 29(11): 842-856. doi: 10.1016/j.nmd.2019.09.007
[23]	CRAWFORD T O, SWOBODA K J, DE VIVO D C, et al. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study[J]. Muscle Nerve, 2023, 68(2): 157-170. doi: 10.1002/mus.27853 pmid: 37409780
[24]	STRAUSS K A, FARRAR M A, MUNTONI F, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial[J]. Nat Med, 2022, 28(7): 1390-1397. doi: 10.1038/s41591-022-01867-3 pmid: 35715567
[25]	SUN Y, LI W, CUI X, et al. Rehabilitation improves the effectiveness of nusinersen in children with type 2 spinal muscular atrophy: pNF-H and muscle MRI as potential biomarkers[J]. Front Neurol, 2025, 16: 1549587. doi: 10.3389/fneur.2025.1549587
[26]	CUNHA M C, OLIVEIRA A S, LABRONICI R H, et al. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool[J]. Arq Neuropsiquiatr, 1996, 54(3): 402-406. doi: 10.1590/S0004-282X1996000300007
[27]	OMURA J C, FREEMAN C L, PERLMAN S J, et al. Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy[J]. PM R, 2023, 15(10): 1361-1362. doi: 10.1002/pmrj.v15.10
[28]	MIREA A, LEANCA M C, ONOSE G, et al. Physical therapy and nusinersen impact on spinal muscular atrophy rehabilitative outcome[J]. Front Biosci (Landmark Ed), 2022, 27(6): 179. doi: 10.31083/j.fbl2706179 pmid: 35748255
[29]	MERCURI E, FINKEL R, MONTES J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials[J]. Neuromuscul Disord, 2016, 26(2): 126-131. doi: 10.1016/j.nmd.2015.10.006
[30]	MADSEN K L, HANSEN R S, PREISLER N, et al. Training improves oxidative capacity, but not function, in spinal muscular atrophy type Ml[J]. Muscle Nerve, 2015, 52(2): 240-244. doi: 10.1002/mus.v52.2
[31]	LEWELT A, KROSSCHELL K J, STODDARD G J, et al. Resistance strength training exercise in children with spinal muscular atrophy[J]. Muscle Nerve, 2015, 52(4): 559-567. doi: 10.1002/mus.24568 pmid: 25597614
[32]	WANG D, ZHANG T, LI Y, et al. Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study[J]. Orphanet J Rare Dis, 2024, 19(1): 279. doi: 10.1186/s13023-024-03291-x pmid: 39060931
[33]	AHMED F, ISLAM A, AKTER S, et al. Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting[J]. J Pediatr Rehabil Med, 2024, 17(2): 247-252.
[34]	SALAZAR R, MONTES J, DUNAWAY YOUNG S, et al. Quantitative evaluation of lower extremity joint contractures in spinal muscular atrophy: implications for motor function[J]. Pediatr Phys Ther, 2018, 30(3): 209-215. doi: 10.1097/PEP.0000000000000515 pmid: 29924070
[35]	FUJAK A, KOPSCHINA C, GRAS F, et al. Contractures of the lower extremities in spinal muscular atrophy type Ⅱ. Descriptive clinical study with retrospective data collection[J]. Ortop Traumatol Rehabil, 2011, 13(1): 27-36. doi: 10.5604/15093492.933792
[36]	ALMASRI N A, AN M, PALISANO R J. Parents' perception of receiving family-centered care for their children with physical disabilities: a meta-analysis[J]. Phys Occup Ther Pediatr, 2018, 38(4): 427-443. doi: 10.1080/01942638.2017.1337664 pmid: 28753054
[37]	CAMDEN C, SWAINE B, TETREAULT S, et al. Reorganizing pediatric rehabilitation services to improve accessibility: Do we sacrifice quality?[J]. BMC Health Serv Res, 2010, 10: 227-237. doi: 10.1186/1472-6963-10-227 pmid: 20687932
[38]	冷明月, 彭宏浩, 吴至凤. 脊髓性肌萎缩症家庭康复与护理的研究进展[J]. 中国当代儿科杂志, 2024, 26(4): 420-424.
	LENG M Y, PENG H H, WU Z F. Recent research on home rehabilitation and nursing for spinal muscular atrophy[J]. Chin J Contemp Pediatr, 2024, 26(4): 420-424.
[39]	MERCURI E, FINKEL R S, MUNTONI F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care[J]. Neuromuscul Disord, 2018, 28(2): 103-115. doi: 10.1016/j.nmd.2017.11.005
[40]	中华医学会儿科学分会康复学组, 中国康复医学会物理治疗专委会. 脊髓性肌萎缩症康复管理专家共识[J]. 中华儿科杂志, 2022, 60(9): 883-887.
	The Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association; Physical Therapy Committee of Chinese Association of Rehabilitation Medicine. Expert consensus on rehabilitation management of the spinal muscular atrophy[J]. Chin J Pediatr, 2022, 60(9): 883-887.
[41]	MORTENSON P, CIELECKA J, HARRISON E, et al. Rehabilitation practices for childhood spinal muscular atrophy[J]. Disabil Rehabil, 2025, 47(21): 5538-5547. doi: 10.1080/09638288.2025.2484345

康复效果满意度	n(%)	1型/n	2型/n	3型/n
不满意	21(13.82)	4	12	5
较满意	109(71.71)	17	65	27
很满意	22(14.47)	5	10	7
合计	152(100.00)	26	87	39

项目	n(%)
康复面临的困难
照看者时间不足	64(42.11)
经济问题	95(62.50)
康复知识获取困难	28(18.42)
患者康复配合度低	31(20.39)
附近缺乏SMA专业康复师或康复机构	91(59.87)
康复需要的帮助
SMA专业照护师培训	54(35.53)
人力上的帮助	35(23.03)
专业康复培训指导	73(48.03)
经济帮助	65(42.76)