Eleni Katsomiti

Background: The COVID-19 pandemic disrupted healthcare systems, disproportionately affecting individuals with rare diseases. This study explores the health-related quality of life and financial burden in the post-pandemic context among children with Duchenne Muscular Dystrophy and their families in Greece, providing insights into health system performance. Methods: A multicenter, cross-sectional study was conducted in two neuromuscular clinics in Greece. Fifty families (response rate 67%) completed standardized quality of life instruments (PedsQL™ 4.0 Generic Core Scale; PedsQL™ 3.0 DMD Module) and a socioeconomic questionnaire. Descriptive and correlation analyses assessed associations between functional status, financial strain, and psychosocial indicators. Results: Children with Duchenne Muscular Dystrophy reported moderate-to-severe reductions in physical and emotional well-being, and substantial out-of-pocket expenditures. Families with greater financial strain or wheelchair-dependent children had significantly lower health-related quality of life scores. Insurance coverage was positively associated with emotional and psychosocial functioning. Conclusions: Greek families living with Duchenne Muscular Dystrophy continue to face significant financial and psychosocial challenges in the post-pandemic period. While the cross-sectional design does not allow causal attribute to COVID-19 pandemic, the results underscore the need to strengthen financial protection, coordinated multidisciplinary care, and equitable access to support services for rare disease management.

Background. The COVID-19 pandemic disrupted healthcare delivery systems worldwide, disproportionately affecting individuals with chronic and rare diseases. This study explores the status in the post-pandemic context on the quality of life and financial burden experienced by children with Duchenne Muscular Dystrophy and their families in Greece, a context that reflects broader challenges in healthcare system performance during crises. Methods. A multicenter, cross-sectional study was conducted across two neuromuscular clinics in Greece. Of 75 eligible families, 50 (response rate 67%) participated through structured interviews with patients and caregivers, using standardized instruments, the PedsQL™ 4.0 Generic Core Scale and the PedsQL™ 3.0 DMD Module to assess health-related quality of life, and a socioeconomic questionnaire to evaluate caregiving burden and out-of-pocket expenditures. Descriptive statistics and correlation analyses were applied to examine associations between functional status, financial strain, and psychosocial indicators. Results. Participants reported moderate-to-severe impacts on physical and emotional well-being, alongside significant caregiving and financial burdens. Households incurred substantial out-of-pocket costs related to home care and non-reimbursed services. Health-related quality of life outcomes were inversely associated with care-related financial stress and functional limitations. Conclusions. The findings highlight ongoing systemic challenges faced by families living with Duchenne Muscular Dystrophy in Greece during the post-pandemic period. While the cross-sectional design does not allow causal attribution to COVID-19 pandemic, the results provide valuable insights into current health system pressures and areas where financial protection and coordinated care pathways could be strengthened.

Introduction: This cross-sectional study aimed to evaluate the reliability and validity of the Greek version of the Pediatric Quality of Life Inventory™ (PedsQL™) 3.0 Duchenne muscular dystrophy (DMD) module. Methods: The Greek version of PedsQL™ 3.0 DMD was completed by children with DMD and their parents/caregivers during their annual clinical visit to a hospital setting. Internal consistency reliability (Cronbach’s α) and reproducibility (ICC, intraclass correlation coefficients) of the DMD module were assessed, and test-retest reproducibility was evaluated after 6 to 8 months. Known-group validity was evaluated by comparing scores between different patient groups. Results: A total of 79 children with DMD and their parents/caregivers were enrolled in the study. Internal consistency reliability was confirmed as Cronbach’s α was > 0.70 (total score: child α = 0.8, parent/ /caregiver α = 0.89) and the ICC exceeded 0.6 (for the total score of the child report 0.92 and 0.81 for the parent/caregiver report). Construct validity of PedsQL™ 3.0 DMD module was confirmed. The mean quality of life total score for child self-report was 76.29 ± 13.27 among the ambulatory patients and 56.91 ± 13.27 among the non-ambulatory patients (p < 0.001). The mean quality of life score for the parent/caregiver proxy report was 70.64 ± 20.75 among ambulatory patients and 52.15 ± 22.54 among non-ambulatory patients (p < 0.001). The child self-reports were in good agreement with the parent/ /caregiver proxy reports for most subscales (ICC range 0.49–0.81, 0.57–0.91). Conclusions: The PedsQL™ 3.0 DMD module is valid and reliable in Greek patients with DMD for measuring disease-specific health-related quality of life (HRQoL). Keywords: health-related quality of life Duchenne muscular dystrophy PedsQL Greek language psychometric properties