イシガキ　ケイコ   ISHIGAKI Keiko   石垣　景子    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
掲載誌名	正式名：Orphanet Journal of Rare Diseases 略　 称：Orphanet J Rare Dis ISSNコード：17501172
掲載区分	国外
巻・号・頁	19(1),pp.182
著者・共著者	MORI-YOSHIMURA Madoka, ISHIGAKI Keiko, SHIMIZU-MOTOHASHI Yuko, ISHIHARA Naoko, UNUMA Atushi, YOSHIDA Sumiko, NAKAMURA Harumasa
発行年月	2024/04/30
概要	Background: 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. Methods: 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. Results: 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. Conclusions: 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. Keywords: Adult Duchenne muscular dystrophy; Bullying; Dystrophinopathy; Education; Employment; Family care; Household income; Patient registry; Questionnaire.
DOI	10.1186/s13023-024-03087-z.
PMID	38689355