进行性假肥大性肌营养不良患者康复现状调查

doi:10.3969/j.issn.1006-9771.2022.09.013

《中国康复理论与实践》 ›› 2022, Vol. 28 ›› Issue (9): 1089-1095.doi: 10.3969/j.issn.1006-9771.2022.09.013

进行性假肥大性肌营养不良患者康复现状调查

陈新宇¹,吴士文^1,²()

1.安徽医科大学武警总医院临床学院（解放军总医院第三医学中心）,安徽合肥市 230032
2.解放军总医院第一医学中心神经内科医学部,北京市 100853

收稿日期:2022-05-10 修回日期:2022-08-02 出版日期:2022-09-25 发布日期:2022-10-08
通讯作者: 吴士文 E-mail:wu_shiwen@outlook.com
作者简介:陈新宇(1996-),女,汉族,四川内江市人,硕士研究生,主要研究方向：神经肌肉疾病、神经系统遗传性疾病。|吴士文(1970-),男,主任医师、教授,主要研究方向：神经肌肉疾病、神经系统遗传性疾病。
基金资助:
国家自然科学基金重点项目(81930121)

Participation of rehabilitation for patients with Duchenne muscular dystrophy

CHEN Xinyu¹,WU Shiwen^1,²()

1. Clinical College of General Hospital of Chinese People's Armed Police Force of Anhui Medical University/the Third Medical Center of Chinese PLA General Hospital, Hefei, Anhui 230032, China
2. Department of Neurology, the First Medical Centre of Chinese PLA General Hospital, Beijing 100853, China

Received:2022-05-10 Revised:2022-08-02 Published:2022-09-25 Online:2022-10-08
Contact: WU Shiwen E-mail:wu_shiwen@outlook.com
Supported by:
National Natural Science of China (Key)(81930121)

摘要/Abstract

摘要：

目的调查进行性假肥大性肌营养不良(DMD)患者康复情况与需求。
方法对2018年10月至2022年3月就诊于安徽医科大学武警总医院DMD门诊患者进行基本信息和康复情况问卷调查。
结果共发放问卷963份,回收有效问卷944份(98.0%)。患者均为男性,年龄5~27岁,平均(9.24±0.184)岁;710例可独立行走;140例定期到专业机构进行康复训练,618例规律进行有氧运动,416例规律进行关节拉伸训练,292例规律使用辅助器具。538例对康复效果不满意,658例存在康复知识获取困难。Logistic回归显示,规律进行康复锻炼的患者丧失独立行走能力的风险下降(OR < 0.61, P < 0.05)。
结论 DMD患者有较为广泛的康复需求,但有氧运动锻炼率、关节拉伸训练率和辅助器具使用率较低,可能影响患者运动功能和生活质量。

关键词: 进行性假肥大性肌营养不良, 康复, 问卷调查, 行走

Abstract:

Objective To investigate the situation and related needs of rehabilitation for patients with Duchenne muscular dystrophy (DMD).
Methods From October, 2018 to March, 2022, the patients with DMD of Multiple Disciplinary Team Clinic, General Hospital of Chinese People's Armed Police Force of Anhui Medical University, were investigated basic information and rehabilitation-related issues with questionnaire.
Results A total of 963 questionnaires were send out and 944 valid questionnaires were analyzed (98.0%). The patients were all male, aged five to 27 years, with a mean of (9.24±0.184) years. For the 944 patients, 710 cases could walk independently, 140 accepted rehabilitation exercises in institutions regularly, 618 participated aerobic exercise regularly, 416 participated joint stretching regularly, and 292 used aids regularly; 538 dissatisfied the effect of rehabilitation, and 658 complained the difficulties in acquiring rehabilitation knowledge. Logistic regression showed that regular rehabilitation participation reduced the risk of walking loss (OR < 0.61, P < 0.05).
Conclusion Patients with DMD need an extensive range of rehabilitation, while the participation of aerobic exercise, joint stretching training and the use of aids is poor, which may influence the motor function and quality of life.

Key words: Duchenne muscular dystrophy, rehabilitation, questionnaire, walking

中图分类号:

R746.2

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.

CHEN Xinyu,WU Shiwen. Participation of rehabilitation for patients with Duchenne muscular dystrophy[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2022, 28(9): 1089-1095.

图/表 5

表1

表2

表3

表4

表5

参考文献 40

[1]	KE Q, ZHAO Z Y, GRIGGS R, et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment[J]. World J Pediatr, 2017, 13(3): 197-201. doi: 10.1007/s12519-017-0036-3 pmid: 28466241
[2]	DUAN D, GOEMANS N, TAKEDA S, et al. Duchenne muscular dystrophy[J]. Nat Rev Dis Primers, 2021, 7(1): 13-31. doi: 10.1038/s41572-021-00248-3 pmid: 33602943
[3]	BIRNKRANT D J, BUSHBY K, BANN C M, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management[J]. Lancet Neurol, 2018, 17(3): 251-267. doi: S1474-4422(18)30024-3 pmid: 29395989
[4]	CASE L E, APKON S D, EAGLE M, et al. Rehabilitation management of the patient with Duchenne muscular dystrophy[J]. Pediatrics, 2018, 142(Suppl 2): S17-S33. doi: 10.1542/peds.2018-0333D
[5]	PANGILINAN P H, HORNYAK J E. Rehabilitation of the muscular dystrophies[J]. Handb Clin Neurol, 2013, 110: 471-481. doi: 10.1016/B978-0-444-52901-5.00040-X pmid: 23312665
[6]	SALARI N, FATAHI B, VALIPOUR E, et al. Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis[J]. J Orthop Surg Res, 2022, 17(1): 96-107. doi: 10.1186/s13018-022-02996-8 pmid: 35168641
[7]	中华医学会神经病学分会,中华医学会神经病学分会神经肌肉病学组,中华医学会神经病学分会肌电图与临床神经生理学组. 中国假肥大型肌营养不良症诊治指南[J]. 中华神经科杂志, 2016, 49(1): 17-20.
	Chinese Medical Association of Neurology, Chinese Medical Association of Neurology Neuromuscular Disease Group, Chinese Medical Association of Neurology Electromyography and Clinical Neurophysiology Group. Chin J Neurol, 2016, 49(1): 17-20.
[8]	中华医学会医学遗传学分会遗传病临床实践指南撰写组. 杜氏进行性肌营养不良的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 258-262.
	Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases, Medical Genetics Branch of Chinese Medical Association. Clinical Practice Guidelines for Duchenne Muscular Dystrophy[J]. Chin J Med Genet, 2020, 37(3): 258-262.
[9]	MCDONALD C M, HENRICSON E K, ABRESCH R T, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study[J]. Lancet, 2018, 391(10119): 451-461. doi: S0140-6736(17)32160-8 pmid: 29174484
[10]	BLADEN C L, SALGADO D, MONGES S, et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations[J]. Hum Mutat, 2015, 36(4): 395-402. doi: 10.1002/humu.22758 pmid: 25604253
[11]	TUFFERY-GIRAUD S, BÉROUD C, LETURCQ F, et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase[J]. Hum Mutat, 2009, 30(6): 934-945. doi: 10.1002/humu.20976
[12]	MA P, ZHANG S, ZHANG H, et al. Comprehensive genetic characteristics of dystrophinopathies in China[J]. Orphanet J Rare Dis, 2018, 13(1): 109-118. doi: 10.1186/s13023-018-0853-z pmid: 29973226
[13]	LANDFELDT E, LINDGREN P, BELL C F, et al. Compliance to Care Guidelines for Duchenne Muscular Dystrophy[J]. J Neuromuscul Dis, 2015, 2(1): 63-72. doi: 10.3233/JND-140053 pmid: 26870664
[14]	密忠祥, 黄秋晨, 刘菲, 等. 我国康复机构服务及运营管理现状分析[J]. 中国康复理论与实践, 2015, 21(1): 103-105.
	MI Z X, HUANG Q C, LIU F, et al. Operation and administration of rehabilitation institutions in China[J]. Chin J Rehabil Theory Pract, 2015, 21(1): 103-105.
[15]	JIA J, WANG H, CHEN S, et al. Status of the community-based rehabilitation in China reflected from multilevel medical institutions[J]. Ann Phys Rehabil Med, 2018, 61: e403.
[16]	LANDFELDT E, EDSTRÖM J, BUCCELLA F, et al. Duchenne muscular dystrophy and caregiver burden: a systematic review[J]. Dev Med Child Neurol, 2018, 60(10): 987-996. doi: 10.1111/dmcn.13934 pmid: 29904912
[17]	SCHWARTZ C E, STARK R B, AUDHYA I F, et al. Characterizing the quality-of-life impact of Duchenne muscular dystrophy on caregivers: a case-control investigation[J]. J Patient Rep Outcomes, 2021, 5(1): 124-139. doi: 10.1186/s41687-021-00386-y pmid: 34800189
[18]	LANDFELDT E, MAYHEW A, STRAUB V, et al. Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis[J]. Disabil Rehabil, 2019, 41(8): 966-973. doi: 10.1080/09638288.2017.1416501 pmid: 29254382
[19]	HENSON S E, LANG S M, KHOURY P R, et al. The effect of adiposity on cardiovascular function and myocardial fibrosis in patients with Duchenne muscular dystrophy[J]. J Am Heart Assoc, 2021, 10(19): e021037. doi: 10.1161/JAHA.121.021037
[20]	AMOR F, VU HONG A, CORRE G, et al. Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy[J]. J Cachexia Sarcopenia Muscle, 2021, 12(3): 677-693. doi: 10.1002/jcsm.12708 pmid: 34037326
[21]	TANAKA C, REILLY J J, TANAKA M, et al. Changes in weight, sedentary behaviour and physical activity during the school year and summer vacation[J]. Int J Environ Res Public Health, 2018, 15(5): 915-933. doi: 10.3390/ijerph15050915
[22]	JACQUES M F, ONAMBELE-PEARSON G L, REEVES N D, et al. Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy[J]. J Cachexia Sarcopenia Muscle, 2018, 9(6): 1042-1052. doi: 10.1002/jcsm.12347 pmid: 30338901
[23]	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
[24]	CAMDEN C, SWAINE B, TETREAULT S, et al. Reorgnizing 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
[25]	MOLINARO A, FEDRIZZI E, CALZA S, et al. Family-centred care for children and young people with cerebral palsy: results from an Italian multicenter observational study[J]. Child Care Health Dev, 2017, 43(4): 588-597. doi: 10.1111/cch.12449
[26]	VRY J, GRAMSCH K, RODGER S, et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences[J]. J Neuromuscul Dis, 2016, 3(4): 517-527.
[27]	LANDFELDT E, LINDGREN P, BELL C F, et al. The burden of Duchenne muscular dystrophy: an international, cross-sectional study[J]. Neurology, 2014, 83(6): 529-536. doi: 10.1212/WNL.0000000000000669 pmid: 24991029
[28]	VAN DER KOOI E L, VOGELS O J, VAN ASSELDONK R J, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy[J]. Neurology, 2004, 63(4): 702-708. pmid: 15326246
[29]	SVEEN M L, JEPPESEN T D, HAUERSLEV S, et al. Endurance training improves fitness and strength in patients with Becker muscular dystrophy[J]. Brain, 2008, 131(Pt 11): 2824-2831. doi: 10.1093/brain/awn189 pmid: 18776212
[30]	KOGELMAN B, PUTKER K, HULSKER M, et al. Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice[J]. J Mol Cell Cardiol, 2018, 125(18): 29-38. doi: 10.1016/j.yjmcc.2018.10.008
[31]	HUGHES K J, RODRIGUEZ A, FLATT K M, et al. Physical exertion exacerbates decline in the musculature of an animal model of Duchenne muscular dystrophy[J]. Proc Natl Acad Sci U S A, 2019, 116(9): 3508-3517. doi: 10.1073/pnas.1811379116 pmid: 30755520
[32]	ZHANG S, QIN D, WU L, et al. Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy[J]. Orphanet J Rare Dis, 2021, 16(1): 188-195. doi: 10.1186/s13023-021-01837-x pmid: 33910603
[33]	BUSHBY K, FINKEL R, BIRNKRANT D J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care[J]. Lancet Neurol, 2010, 9(2): 177-189. doi: 10.1016/S1474-4422(09)70272-8 pmid: 19945914
[34]	ALEMDAROĞLU I, KARADUMAN A, YILMAZ Ö T, et al. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation[J]. Muscle Nerve, 2015, 51(5): 697-705. doi: 10.1002/mus.24451 pmid: 25196721
[35]	JANSEN M, VAN ALFEN N, GEURTS A C, et al. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial "no use is disuse"[J]. Neurorehabil Neural Repair, 2013, 27(9): 816-827. doi: 10.1177/1545968313496326 pmid: 23884013
[36]	WAGNER K R, LECHTZIN N, JUDGE D P. Current treatment of adult Duchenne muscular dystrophy[J]. Biochim Biophys Acta, 2007, 1772(2): 229-237. pmid: 16887341
[37]	PELLEGRINI N, GUILLON B, PRIGENT H, et al. Optimization of power wheelchair control for patients with severe Duchenne muscular dystrophy[J]. Neuromuscul Disord, 2004, 14(5): 297-300. doi: 10.1016/j.nmd.2004.02.005
[38]	LEE L W, KERRIGAN D C, DELLA CROCE U. Dynamic implications of hip flexion contractures[J]. Am J Phys Med Rehabil, 1997, 76(6): 502-508. doi: 10.1097/00002060-199711000-00013
[39]	HALAWI M J, LARK R K, FITCH R D. Neuromuscular scoliosis: current concepts[J]. Orthopedics, 2015, 38(6): e452-e456.
[40]	MCDONALD C M, ABRESCH R T, CARTER G T, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy[J]. Am J Phys Med Rehabil, 1995, 74(5 Suppl): S70-S92. doi: 10.1097/00002060-199509001-00003

变量	n
年龄
< 10岁	543
≥ 10岁	401
基因突变类型
大缺失突变	679
大重复突变	64
小突变	201
使用糖皮质激素
是	598
否	346
拥有独立行走能力
是	710
否	234

变量	n
定期到专业机构进行康复
是	140
否	804
规律有氧运动
是	618
否	326
规律关节拉伸
是	416
否	528
规律使用辅助器具	292
斜板	219
矫形鞋	108
辅助站立架	79
定制电动轮椅	156
家人督导患者锻炼
是	808
否	136

变量	n
康复效果满意度
不满意	538
较满意	362
很满意	44
康复主要困难
照料者时间不足	313
康复知识获取困难	658
主动康复配合度低	577
康复方面的需求
人力上帮助	405
专业康复培训指导	667
DMD专业照护师培训	675

变量	能独立行走组(n = 710)	不能独立行走组(n = 234)	t/χ²值	P值
年龄/岁	7.93±0.18	13.26±0.39	13.740	< 0.001
使用糖皮质激素/n			0.187	0.665
是	447	151
否	263	83
患者基因突变类型/n			0.271	0.873
大缺失突变	508	171
大重复突变	48	16
小突变	154	47
定期到专业机构康复/n			0.076	0.783
是	104	36
否	606	198
家人督导患者锻炼/n			6.958	0.008
是	620	188
否	90	46
规律有氧运动/n			40.596	< 0.001
是	505	113
否	205	121
规律关节拉伸/n			12.321	< 0.001
是	336	80
否	374	154
规律使用康复辅助器具/n			185.959	< 0.001
是	136	156
否	574	78
对康复锻炼效果的满意度/n			28.924	< 0.001
不满意	370	168
较满意	306	56
很满意	34	10

变量	模型1		模型2
变量	OR(95%CI)	P值	OR(95%CI)	P值
规律有氧运动	0.59(0.28~0.51)	< 0.001	0.39(0.27~0.57)	< 0.001
规律使用康复器具	0.37(0.27~050)	< 0.001	0.45(0.31~0.65)	< 0.001
规律关节拉伸	0.59(0.39~0.90)	0.013	0.61(0.38~0.96)	0.033

进行性假肥大性肌营养不良患者康复现状调查

Participation of rehabilitation for patients with Duchenne muscular dystrophy

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 5

参考文献 40

相关文章 15

Metrics

本文评价

推荐阅读 0

[1]	罗丽华, 王雨生, 李剑锋, 董继革. 术后早期综合康复对儿童青少年肱骨髁上骨折伴尺神经损伤的效果[J]. 《中国康复理论与实践》, 2024, 30(1): 105-110.
[2]	王子豪, 李昕华, 蒋慧萍, 郭赛男, 梁秋曼, 史婷奇. 全膝关节置换术后短期膝关节功能及其影响因素[J]. 《中国康复理论与实践》, 2024, 30(1): 111-118.
[3]	陈珺雯, 陈谦, 陈程, 李淑月, 刘玲玲, 吴存书, 龚翔, 鲁俊, 许光旭. 改良八段锦身体活动对脑卒中患者心肺功能、运动功能和日常生活活动能力的效果[J]. 《中国康复理论与实践》, 2024, 30(1): 74-80.
[4]	史佳伟, 李凌宇, 杨浩杰, 王琴潞, 邹海欧. 预康复对全膝关节置换术后患者的有效性：系统综述的系统综述[J]. 《中国康复理论与实践》, 2023, 29(9): 1057-1064.
[5]	蔡华年, 费思先, 张忆晨, 孙青, 郭帅, 宋韬. 基于导纳控制的双边康复机器人运动辅助分析[J]. 《中国康复理论与实践》, 2023, 29(9): 1104-1109.
[6]	刘洋, 张鹏, 黄英, 陈翰, 许辰, 李敏. 知觉压力影响创伤康复期患者事件影响程度的中介效应路径分析[J]. 《中国康复理论与实践》, 2023, 29(8): 954-960.
[7]	易琦峰, 黄卓尔, 杨国莉, 谢丽华, 谢胜锋, 吴小霞, 严谨. 在职医护人员呼吸康复培训知识需求问卷的编制及信度、效度检验[J]. 《中国康复理论与实践》, 2023, 29(8): 985-992.
[8]	李子怡, 宋为群, 杜巨豹, 曹光磊, 张艳明, 李冉. 运动表象训练对膝关节单髁置换术后膝关节功能的效果[J]. 《中国康复理论与实践》, 2023, 29(7): 745-749.
[9]	任艺, 王蕊, 章耀华. 本体感觉神经肌肉促进技术联合神经肌肉电刺激对慢性踝关节不稳的效果[J]. 《中国康复理论与实践》, 2023, 29(7): 750-755.
[10]	李芳, 霍速, 杜巨豹, 刘秀贞, 李小爽, 宋为群. 经颅直流电刺激联合任务导向性康复训练对脊髓损伤大鼠前肢运动障碍的效果[J]. 《中国康复理论与实践》, 2023, 29(7): 777-781.
[11]	王靖萱, 吕迪阳, 方伯言. 帕金森病步态异常非药物康复循证研究：基于ClinicalTrials.gov数据库分析[J]. 《中国康复理论与实践》, 2023, 29(7): 816-821.
[12]	马甜甜, 于子夫, 秦芳, 冷晓轩, 刘西花. 强制性运动疗法在康复领域应用的可视化分析[J]. 《中国康复理论与实践》, 2023, 29(7): 822-832.
[13]	唐强, 郑爽, 王蕾, 王艳, 李保龙, 刘贵军, 朱路文. 基于世界卫生组织康复胜任力架构的中医康复学专业课程开发研究[J]. 《中国康复理论与实践》, 2023, 29(7): 862-868.
[14]	吴千豪, 侯榕洁, 傅丽媛. 近10年国内外盆底康复的可视化分析[J]. 《中国康复理论与实践》, 2023, 29(6): 673-685.
[15]	郑莉, 鲍治诚, 张琪, 任绪艳, 苏敏. 经皮耳迷走神经电刺激结合康复机器人训练对脑卒中患者上肢功能的效果[J]. 《中国康复理论与实践》, 2023, 29(6): 691-696.