Health-related quality of life in patients with mitochondrial disease and their carers.

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Deborah Schofield, Joshua Kraindler, Katherine Lim, Owen Tan, Sameen Haque, Karen Crawley, Sarah West, Adam Percival, Jayamala Parmar, Rupendra Shrestha, Carolyn Sue
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Abstract

Background: Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patients and their carers. This study estimates HRQoL among adult patients with mitochondrial diseases and their carers, using the Assessment of Quality-of-Life 8D (AQoL-8D), a validated instrument for measuring health utilities.

Methods: Ninety-nine adult patients and 24 carers were recruited to the Economic and Psychosocial Impacts of Caring for Families Affected by Mitochondrial Disease (EPIC-MITO) Study, based in New South Wales, Australia.

Results: Adult patients exhibited significantly lower utility values (0.52) compared with age-adjusted and gender-adjusted population norms (0.80; p<0.001). Regression analysis shows that mental health disorders, sleep disorders, financial stress and female gender were associated with reduced HRQoL. Carers also demonstrated AQoL-8D utility values (0.70) significantly below age-adjusted and gender-adjusted population norms (0.81; p=0.01) reflecting the broader burden of mitochondrial diseases on families.

Conclusion: With increasing use of genetic testing and genomic sequencing, as well as hope for gene therapies, health utility values will be necessary for economic evaluations of new interventions for mitochondrial disease. This paper shows the substantial impact on HRQoL of mitochondrial disease measured through utilities. The utility values from this paper can inform future economic evaluations for interventions for patients with mitochondrial disease. Further, the paper demonstrated that mitochondrial disease not only reduces the HRQoL of patients but also impacts the HRQoL of carers.

线粒体疾病患者及其照护者的健康相关生活质量
背景:线粒体疾病是一组罕见的慢性疾病,具有显著的疾病负担;然而,关于它们对患者及其护理人员与健康相关的生活质量(HRQoL)的影响的知识有限。本研究使用生活质量评估8D (aql -8D)(一种有效的衡量健康效用的工具)估计成年线粒体疾病患者及其护理人员的HRQoL。方法:在澳大利亚新南威尔士州招募了99名成年患者和24名护理人员参与线粒体疾病家庭护理的经济和社会心理影响(EPIC-MITO)研究。结果:成年患者的效用值(0.52)明显低于年龄调整和性别调整后的人群标准(0.80)。结论:随着基因检测和基因组测序应用的增加,以及基因治疗的希望,健康效用值将成为评估线粒体疾病新干预措施的必要条件。本文显示了通过公用事业测量线粒体疾病对HRQoL的实质性影响。本文的效用值可以为线粒体疾病患者干预措施的未来经济评估提供信息。进一步,本文证明线粒体疾病不仅降低了患者的HRQoL,也影响了护理人员的HRQoL。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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