Dumbuya John Sieh, Tian Chuan, Deng Lin, Ahmad Bashir, Chen Xiuling, Lu Jun
Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Department of Paediatrics, The 958 Hospital of the People's Liberation Army, Chongqing, China.
Front Neurol. 2025 Jul 18;16:1585906. doi: 10.3389/fneur.2025.1585906. eCollection 2025.
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.
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.
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-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.
线粒体脑肌病（ME）是一种罕见的遗传性疾病，严重影响患者的生活质量，并给照顾者带来情感和经济负担。然而，人们尚未完全了解感知到的经济负担、残疾与照顾者压力之间的动态关系。本研究旨在探讨线粒体脑肌病患者在感知到的经济负担、生活质量、残疾水平和照顾者负担方面的差异。
2023年1月至12月，我们对中南大学湘雅医学院附属海口医院的线粒体脑肌病患者及其照顾者进行了横断面分析。使用包括CHU-9D、儿童生活质量量表（PedsQL）、患者健康问卷-9（PHQ-9）和照顾者负担量表（CBI）在内的多个评估量表来评估疾病负担、生活质量、残疾和照顾者负担。采用描述性统计和相关系数来评估这些因素之间的关系。
共确定了27例线粒体脑肌病患者，平均年龄为10.14岁，其中88.9%为儿童。该队列包括18名（66.7%）男性和9名（33.3%）女性；线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征和 Leigh综合征是最常见的亚型。生活质量得分与照顾者负担之间存在显著相关性，CHU-9D与PHQ-9和CBI呈负相关，与PedsQL和健康效用得分呈正相关。此外，44.4%的患者报告有严重的经济负担，57.7%的照顾者经历了中度至重度的负担。
我们的研究结果突出了线粒体脑肌病患者经济压力、生活质量和照顾者负担之间的复杂关系。这强调了需要全面的、以患者为中心的护理以及有针对性的政策干预措施，以减轻患者和照顾者的负担。进一步的研究对于开发有效的支持系统和改善总体结果至关重要。
