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

Abstract

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

CLC Number:

R746.2

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.

Figures/Tables 5

References 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

Participation of rehabilitation for patients with Duchenne muscular dystrophy

RichHTML

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

Figures/Tables 5

References 40

Related Articles 15

Metrics

Comments

Recommended 0

[1]	LUO Lihua, WANG Yusheng, LI Jianfeng, DONG Jige. Effect of early postoperative comprehensive rehabilitation on children and youth with supracondylar fracture of humerus complicated with ulnar nerve injury [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2024, 30(1): 105-110.
[2]	WANG Zihao, LI Xinhua, JIANG Huiping, GUO Sainan, LIANG Qiuman, SHI Tingqi. Short-term knee function after total knee arthroplasty and related factors [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2024, 30(1): 111-118.
[3]	CHEN Junwen, CHEN Qian, CHEN Cheng, LI Shuyue, LIU Lingling, WU Cunshu, GONG Xiang, LU Jun, XU Guangxu. Effect of modified Baduanjin exercise on cardiopulmonary function, motor function and activities of daily living for stroke patients [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2024, 30(1): 74-80.
[4]	SHI Jiawei, LI Lingyu, YANG Haojie, WANG Qinlu, ZOU Haiou. Effect of preoperative prerehabilitation training on total knee arthroplasty: a systematic review of systematic reviews [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(9): 1057-1064.
[5]	HU Xiaoshi, ZHANG Qi, YUE Qing, LIANG Yanhua, LI Xiaosong, FENG Amei, ZHANG Yanqing. Effect of orthopedic elastic bandages on gait symmetry and walking ability in children with spastic hemiplegic cerebral palsy [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(9): 1083-1089.
[6]	CAI Huanian, FEI Sixian, ZHANG Yichen, SUN Qing, GUO Shuai, SONG Tao. Motion assistance analysis for robot-assisted tele-rehabilitation based on bilateral admittance control [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(9): 1104-1109.
[7]	LIU Yang, ZHANG Peng, HUANG Ying, CHEN Han, XU Chen, LI Min. Path analysis of mediating effect of perceived stress affecting impact of event in rehabilitation patients with traumatic injury [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(8): 954-960.
[8]	YI Qifeng, HUANG Zhuoer, YANG Guoli, XIE Lihua, XIE Shengfeng, WU Xiaoxia, YAN Jin. Development, and reliability and validity testing of a knowledge needs questionnaire of respiratory rehabilitation training for in-service healthcare workers [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(8): 985-992.
[9]	LI Ziyi, SONG Weiqun, DU Jubao, CAO Guanglei, ZHANG Yanming, LI Ran. Effect of motor imagery on knee function after unicompartmental knee arthroplasty [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 745-749.
[10]	REN Yi, WANG Rui, ZHANG Yaohua. Effect of proprioceptive neuromuscular facilitation combined with neuromuscular electrical stimulation on chronic ankle instability [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 750-755.
[11]	LI Fang, HUO Su, DU Jubao, LIU Xiuzhen, LI Xiaoshuang, SONG Weiqun. Effect of transcranial direct current stimulation combined with task-oriented rehabilitation training on forelimb motor dysfunction in rats with spinal cord injury [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 777-781.
[12]	WANG Jingxuan, LÜ Diyang, FANG Boyan. Non-drug rehabilitation for gait abnormality of Parkinson's disease: a review based on ClinicalTrials.gov [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 816-821.
[13]	MA Tiantian, YU Zifu, QIN Fang, LENG Xiaoxuan, LIU Xihua. Application of constraint-induced movement therapy in the field of rehabilitation: a visualized analysis [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 822-832.
[14]	SUN Zhijie, GUO Xin, LAN Zhi, WANG Qiang. Turn intention perception and fall detection for smart walkers [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 849-855.
[15]	TANG Qiang, ZHENG Shuang, WANG Lei, WANG Yan, LI Baolong, LIU Guijun, ZHU Luwen. Development of traditional Chinese medicine rehabilitation curriculum based on World Health Organization rehabilitation competency framework [J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2023, 29(7): 862-868.