ArticleFrontiers in neurology2025
Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy.
Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Mitochondrial encephalomyopathy (ME) is a rare genetic disorder that significantly impacts participants' quality of life and places emotional and financial burdens on caregivers. However, the dynamics between perceived financial burden, disability, and caregiver strain are not fully understood. This study aimed to explore the differences in perceived financial burden, QoL, disability levels, and caregiver burden among participants with ME. Methods: Between January and December 2023, we conducted a cross-sectional analysis of ME participants and their caregivers at Haikou Affiliated Hospital of Xiangya Medical College, Central South University. Multiple assessment scales, including CHU-9D, PedsQL, PHQ-9, and CBI, were used to evaluate disease burden, QoL, disability, and caregiver burden. Descriptive statistics and correlation coefficients were employed to assess the relationships between these factors. Results: A total of 27 participants with ME were identified, with a mean age of 10.14 years, 88.9% of whom were children. The cohort comprised 18 (66.7%) males and 9 (33.3%) females; MELAS and Leigh syndrome were the most common subtypes. Significant correlations were found between QoL scores and caregiver burden, with CHU-9D showing negative correlations with PHQ-9 and CBI and positive correlations with PedsQL and health utility scores. Additionally, 44.4% of participants reported severe financial burdens, and 57.7% of caregivers experienced moderate to severe levels of burden. Conclusion: Our findings highlight the complex relationships between financial strain, QoL, and caregiver burden in ME. This underscores the need for comprehensive, patient-centered care and targeted policy interventions to alleviate patient and caregiver burdens. Further research is essential to develop effective support systems and improve overall outcomes.
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