Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.
Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan.
Orphanet J Rare Dis. 2024 Apr 30;19(1):182. doi: 10.1186/s13023-024-03087-z.
Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. This study aimed to clarify the social circumstances surrounding adult DMD patients and assess the degree of involvement of family members in their care and the associated economic burden of the disorder in Japan.
Adult DMD patients were identified through the Registry of Muscular Dystrophy (Remudy) in Japan and invited to complete a questionnaire together with a caregiver. Data on health care use, quality of life, work status, informal care, and household expenses were collected to estimate the costs associated with DMD from social and caregiver household perspectives.
In total, 234 (63.7%) of 367 adult DMD patients (mean age, 27.4 ± 6.0; range, 20-48 years) completed the questionnaire. Of these, 38 (21%) had developmental disorders (mental retardation, autism, and learning disorders), 57 (33%) experienced bullying in school, and 44 (77%) indicated the reason for bullying to be their physical handicap. Employment histories were noted by 72 (31%), although 23 (10%) lost their jobs mainly due to physical difficulties. Of the 234 patients, 164 (74%) lived with their relatives, and 78% of care time was supplied by family members, in particular, their mothers. The mean rate of care work provided by family members was 81%. Household income of families with an adult DMD patient was lower, whereas the rate of living with parent(s) and grandparent(s) was higher, in comparison with the general Japanese population.
Adult DMD patients in Japan experience many social difficulties from childhood up to adulthood. As adults, many DMD patients experience bullying and workplace difficulties. Families were found to provide most of the care and financial support for DMD patients. Our results suggest the need to improve public patient care systems, including financial support, to address the physical and economic burdens of care for adult DMD patients in Japan.
目前对于日本成年杜氏肌营养不良症（DMD）患者的社会困难和医疗保健需求，以及其照顾者所面临的经济和身体压力知之甚少。本研究旨在阐明成年 DMD 患者的社会环境，并评估家庭成员对其护理的参与程度以及日本该病的经济负担。
通过日本肌肉萎缩症登记处（Remudy）确定成年 DMD 患者，并邀请他们与照顾者一起完成问卷。收集医疗保健利用、生活质量、工作状况、非正规护理和家庭开支数据，从社会和照顾者家庭的角度估算 DMD 相关费用。
共有 234 名（63.7%）367 名成年 DMD 患者（平均年龄 27.4±6.0 岁，范围 20-48 岁）完成了问卷。其中，38 名（21%）存在发育障碍（智力迟钝、自闭症和学习障碍），57 名（33%）在学校遭受欺凌，44 名（77%）表示欺凌的原因是身体残疾。72 名（31%）有工作经历，尽管 23 名（10%）主要因身体困难而失业。234 名患者中，164 名（74%）与亲属同住，78%的护理时间由家庭成员提供，特别是他们的母亲。家庭成员提供护理工作的平均比例为 81%。与普通日本人口相比，有成年 DMD 患者的家庭收入较低，与父母或祖父母同住的比例较高。
日本成年 DMD 患者从小到成年都经历了许多社会困难。成年后，许多 DMD 患者都经历过欺凌和工作场所困难。家庭为 DMD 患者提供了大部分护理和经济支持。我们的研究结果表明，需要改善公共患者护理系统，包括经济支持，以解决日本成年 DMD 患者的身体和经济负担。
