Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
York Health Economics Consortium, York, UK.
Orphanet J Rare Dis. 2023 Oct 11;18(1):320. doi: 10.1186/s13023-023-02945-6.
Mitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial disease is associated with morbidity and mortality, with predominantly neurological and neuromuscular symptoms including dystonia, weakness, encephalopathy, developmental delay and seizures. Seizures are one of the most common and severe manifestations of mitochondrial disease. These seizures are typically refractory to common anti-seizure therapies. There are no approved disease-modifying treatments for mitochondrial disease. Our objective was to conduct two systematic literature reviews to identify health-related quality of life (HRQoL), utilities, costs and healthcare resource use data in mitochondrial disease with associated seizures.
A range of databases and information sources were searched up to July 2022 to identify eligible studies. Search strategies included a range of variant terms for mitochondrial disease and HRQoL, utilities, cost and healthcare resource use outcomes. Two reviewers independently assessed articles against the eligibility criteria; studies were extracted by one reviewer and checked by a second. Risk of bias was assessed for studies reporting HRQoL data. Results were narratively assessed.
Seven studies were eligible for the HRQoL and utilities review. The studies used different tools to report data, and despite the variability in methods, HRQoL scores across the studies showed moderate/severe disease in patients with mitochondrial disease with associated seizures. Parents of patients with mitochondrial disease with associated seizures were characterised by high total parenting stress. No studies reported utilities data. Two case reports and one retrospective review of medical records of children who died in hospital were eligible for the costs and resource use review. These provided limited information on the duration of hospital stay, in an intensive care unit (ICU), on mechanical ventilation. No studies reported costs data.
These reviews highlight the limited HRQoL, utilities, costs and resource use data and the variability of instruments used in mitochondrial disease with associated seizures. However, the data available indicate that mitochondrial disease with associated seizures affects patients' and caregivers' HRQoL alike. No robust conclusion can be drawn on the impact of mitochondrial disease with associated seizures on hospital or ICU length of stay. Trial registration PROSPERO: CRD42022345005.
线粒体疾病是一组影响儿童和成人的退行性、进行性、异质性遗传疾病。线粒体疾病与发病率和死亡率相关，主要表现为神经和神经肌肉症状，包括肌张力障碍、无力、脑病、发育迟缓以及癫痫发作。癫痫发作是线粒体疾病最常见和最严重的表现之一。这些癫痫发作通常对常见的抗癫痫治疗无效。目前尚无针对线粒体疾病的批准的疾病修正治疗方法。我们的目的是进行两项系统文献综述，以确定与癫痫相关的线粒体疾病的健康相关生活质量（HRQoL）、效用、成本和医疗资源使用数据。
我们检索了一系列数据库和信息来源，截至 2022 年 7 月，以确定符合条件的研究。搜索策略包括一系列变体术语，用于线粒体疾病和 HRQoL、效用、成本和医疗资源使用结果。两名审查员独立根据纳入标准评估文章；一名审查员提取研究，另一名审查员检查。对报告 HRQoL 数据的研究进行了偏倚风险评估。结果以叙述方式进行评估。
有 7 项研究符合 HRQoL 和效用审查标准。这些研究使用了不同的工具来报告数据，尽管方法存在差异，但研究中的 HRQoL 评分表明，患有与癫痫相关的线粒体疾病的患者病情中度/重度。患有与癫痫相关的线粒体疾病的患者的父母的总育儿压力很大。没有研究报告效用数据。两项病例报告和一项对住院死亡儿童病历的回顾性审查符合成本和资源使用审查的标准。这些研究仅提供了关于住院时间、重症监护病房（ICU）时间和机械通气时间的有限信息。没有研究报告成本数据。
这些综述强调了与癫痫相关的线粒体疾病的 HRQoL、效用、成本和资源使用数据有限，以及所使用的工具存在差异。然而，现有数据表明，与癫痫相关的线粒体疾病会影响患者和照顾者的 HRQoL。无法对与癫痫相关的线粒体疾病对住院或 ICU 住院时间的影响得出可靠的结论。试验注册：PROSPERO：CRD42022345005。
