ORIGINAL RESEARCH article
Front. Neurol.
Sec. Neurogenetics
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1585906
Clinical Features, Disease Burden and Impact on Quality of Life in participants with Mitochondrial Encephalomyopathy
Provisionally accepted
- 1Affiliated Hospital of Guangdong Medical College Hospital, Zhanjiang, China
- 2958 Hospital of the People's Liberation Army, Chongqing, Chongqing Municipality, China
- 3Haikou Hospital Affiliated to Xiangya School of Medicine, Central South University, Haikou, Hainan Province, China
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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.Our findings highlight the complex relationships between financial strain, QoL, and caregiver burden in ME. This underscores the need for comprehensive, patient-centred care and targeted policy interventions to alleviate patient and caregiver burdens. Further research is essential to develop effective support systems and improve overall outcomes.
Keywords: Mitochondrial encephalomyopathy, Rare Diseases, caregiver burden, Financial burden, Quality of Life, Assessment scales
Received: 01 Mar 2025; Accepted: 02 Jul 2025.
Copyright: © 2025 DUMBUYA, Tian, DENG, Ahmad, Chen and Lu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: JOHN SIEH DUMBUYA, Affiliated Hospital of Guangdong Medical College Hospital, Zhanjiang, China
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