Disease burden of duchenne muscular dystrophy patients and their caregivers

Background and purpose: Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients' and their care-givers' health related quality of life and healthcare utilisations.

Methods: A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients' informal carers were surveyed.

Results: One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: --0.142).

Conclusion: Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.