Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Neuromuscul Disord. 2013 Apr;23(4):324-9. doi: 10.1016/j.nmd.2012.12.012. Epub 2013 Feb 20.
Mitochondrial diseases are a clinically diverse group of genetic disorders that often present to neurologists. Health related quality of life (HRQOL) is increasingly recognised as a fundamental patient based outcome measure in both clinical intervention and research. Generic outcome measures have been extensively validated to assess HRQOL across populations and different disease states. However, due to their inclusive construct, it is acknowledged that not all relevant aspects of a specific illness may be captured. Hence there is a need to develop disease specific HRQOL measures that centre on symptoms characteristic of a specific disease or condition and their impact. This study presents the initial conceptualisation, development and preliminary psychometric assessment (validity and reliability) of a mitochondrial disease specific HRQOL measure (Newcastle Mitochondrial Quality of life measure (NMQ)). NMQ is a valuable assessment tool and consists of 63 items within 16 unidimensional domains, each demonstrating good internal reliability (Cronbach's α≥0.83) and construct validity.
线粒体疾病是一组临床表现多样的遗传性疾病，常由神经科医生诊治。健康相关生活质量（HRQOL）越来越被认为是临床干预和研究中基本的基于患者的结果衡量标准。通用结局衡量标准已被广泛验证，可用于评估不同人群和不同疾病状态下的 HRQOL。然而，由于其包容性的结构，人们认识到并非所有特定疾病的所有相关方面都能被捕捉到。因此，需要开发针对特定疾病的 HRQOL 衡量标准，这些标准集中在特定疾病或病症的特征症状及其影响上。本研究提出了一种线粒体疾病特异性 HRQOL 衡量标准（纽卡斯尔线粒体生活质量衡量标准（NMQ））的初步概念化、制定和初步心理测量评估（有效性和可靠性）。NMQ 是一种有价值的评估工具，由 63 个项目组成，分为 16 个单一维度领域，每个领域都具有良好的内部可靠性（Cronbach's α≥0.83）和结构有效性。
