[P3-116] Does early diagnosis ensure effective information delivery and proactive care for patients and their families with Duchenne Muscular Dystrophy (DMD)?
[Introduction]
The importance of early diagnosis of Duchenne Muscular Dystrophy (DMD) is widely acknowledged, however little is known about the implications of early diagnosis for care and support in young DMD boys and families. This study aims to determine whether early diagnosis ensures effective information delivery and proactive care for patients and their families in Japan and European countries.
[Methodology]
The CARE-NMD survey, a cross-sectional study surveying care and treatment in DMD was carried out in 7 European countries and Japan in 2011-2013, which collected self-report data of patients and families in patient registries. Among the survey participants, we extracted the boys who were younger than 5.0 years and diagnosed at younger than 2 years and 1 month. Attendance of neuromuscular clinic, experience on diagnosis, provision of information and care were analysed.
[Results]
64 boys (19 Japan, 18 Germany, 10 United Kingdom, 6 Hungary, 6 Czech Republic, 5 Poland) were eligible for this study. The number of boys diagnosed by combination of CK and genetic testing in blood was strikingly higher. Our cohorts mostly attended neuromuscular clinics at least once per year. While, experience on help for coping with diagnosis and information delivery were inconsistent, and insufficiency of psychosocial support was observed.
[Conclusion]
This study supports that early diagnosis ensures early access to neuromuscular clinics, however information delivery and provision of proactive care seems to be inconsistent. Seamless and comprehensive care and support for DMD boys and families with early diagnosis need to be addressed.
The importance of early diagnosis of Duchenne Muscular Dystrophy (DMD) is widely acknowledged, however little is known about the implications of early diagnosis for care and support in young DMD boys and families. This study aims to determine whether early diagnosis ensures effective information delivery and proactive care for patients and their families in Japan and European countries.
[Methodology]
The CARE-NMD survey, a cross-sectional study surveying care and treatment in DMD was carried out in 7 European countries and Japan in 2011-2013, which collected self-report data of patients and families in patient registries. Among the survey participants, we extracted the boys who were younger than 5.0 years and diagnosed at younger than 2 years and 1 month. Attendance of neuromuscular clinic, experience on diagnosis, provision of information and care were analysed.
[Results]
64 boys (19 Japan, 18 Germany, 10 United Kingdom, 6 Hungary, 6 Czech Republic, 5 Poland) were eligible for this study. The number of boys diagnosed by combination of CK and genetic testing in blood was strikingly higher. Our cohorts mostly attended neuromuscular clinics at least once per year. While, experience on help for coping with diagnosis and information delivery were inconsistent, and insufficiency of psychosocial support was observed.
[Conclusion]
This study supports that early diagnosis ensures early access to neuromuscular clinics, however information delivery and provision of proactive care seems to be inconsistent. Seamless and comprehensive care and support for DMD boys and families with early diagnosis need to be addressed.