Institute of Environmental Medicine, Karolinska Institutet, Nobels väg 13, 17177, Stockholm, Sweden.
ICON plc, Stockholm, Sweden.
Patient. 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y.
Adult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death.
The objective of our study was to conduct a systematic literature review of the health-related quality of life (HRQoL) of patients with DM1.
We searched Embase, Web of Science, and PubMed for English language full-text articles reporting results from studies of HRQoL in patients with adult-onset DM1 published between 1 January 2000 and 21 February 2018. We excluded reviews, editorials, and studies reporting results for a sample with fewer than five patients (to allow for meaningful inference).
The search identified 266 unique publications. Of these, 231 were excluded following title and abstract screening and 16 after full-text review, leaving 19 articles for data synthesis. We found 15 articles measuring the HRQoL of patients with adult-onset DM1 using the 36-Item Short Form Health Survey (SF-36), six using the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), and one using Cantril's Ladder. Available evidence shows that patient HRQoL is impaired in DM1, mainly due to compromised physical health, but also reveals that substantial heterogeneity exists in estimates across studies.
HRQoL in adult-onset DM1 has been extensively studied using the SF-36 and the INQoL, but current estimates are inconclusive, and little is known of the impact of the disease as measured using other instruments. Our data synthesis should help characterize the patient burden of DM1 and inform future studies of HRQoL in this indication.
成人型肌强直性营养不良 1 型（DM1）是一种慢性、多系统疾病，可导致残疾和过早死亡。
我们的研究旨在对 DM1 患者的健康相关生活质量（HRQoL）进行系统文献回顾。
我们检索了 Embase、Web of Science 和 PubMed，以获取 2000 年 1 月 1 日至 2018 年 2 月 21 日期间发表的关于成年型 DM1 患者 HRQoL 研究的英文全文文章。我们排除了综述、社论和报告样本中患者少于 5 例（以便进行有意义的推断）的研究。
搜索共确定了 266 篇独特的出版物。其中，231 篇在标题和摘要筛选后被排除，16 篇在全文审查后被排除，留下 19 篇文章进行数据综合。我们发现 15 篇文章使用 36 项简短健康调查问卷（SF-36）测量成年型 DM1 患者的 HRQoL，6 篇使用个体化神经肌肉生活质量问卷（INQoL），1 篇使用 Cantril 阶梯。现有证据表明，DM1 患者的 HRQoL 受损，主要是由于身体健康受损，但也表明研究之间的估计存在很大的异质性。
使用 SF-36 和 INQoL 广泛研究了成年型 DM1 的 HRQoL，但目前的估计尚无定论，对于使用其他工具测量疾病的影响知之甚少。我们的数据综合应该有助于描述 DM1 患者的疾病负担，并为这一适应症的 HRQoL 未来研究提供信息。
