TRS Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1450 Nesoddtangen, Oslo, Norway.
Library of Medicine and Science, University of Oslo, Oslo, Norway.
Orphanet J Rare Dis. 2022 Jan 10;17(1):14. doi: 10.1186/s13023-021-02169-6.
Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas.
We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used).
This review included 215 articles on ten different rare developmental defects/anomalies during embryogenesis and 35 rare genetic diseases. Of the 215 articles, 82 had investigation of experienced fatigue as primary aim or outcome. Included were 9 secondary research articles (reviews) and 206 primary research articles. A minority of articles included children. There were large differences in the number of studies in different diseases. Only 29 of 215 articles gave a description of how they defined the concept of experienced fatigue. The most common research-question reported on was prevalence and/ -or associations to fatigue. The least common was diagnostics (development or validation of fatigue assessment methods for a specific patient group). A large variety of methods were used to investigate experienced fatigue, impeding comparisons both within and across diagnoses.
This scoping review on the characteristics of fatigue research in rare diseases found a large variety of research on experienced fatigue. However, the minority of studies had investigation of experienced fatigue as a primary aim. There was large variation in how experienced fatigue was defined and also in how it was measured, both within and across diagnoses. More research on experienced fatigue is needed, both in children and adults with rare diseases. This review offers a basis for further research.
在许多不同的罕见疾病患者中，经验性疲劳是一种未被充分认识和研究的特征。需要更全面地了解儿童和成人罕见病患者经验性疲劳的现有研究特征。本综述的目的是绘制和描述胚胎发育过程中罕见发育缺陷或畸形和罕见遗传性疾病中选定的罕见疾病中经验性疲劳现有研究的特征。此外，确定研究差距并指出研究议程。
我们采用了范围综述方法，并于 2020 年 3 月在文献数据库中进行了系统搜索。使用 EndNote 和 Rayyan 对参考文献进行排序和评估是否符合纳入标准。提取的主要研究问题包括经验性疲劳研究的特征（疲劳的定义和重点、研究人群、研究问题和方法）。
本综述纳入了 10 种不同的胚胎发育过程中的罕见发育缺陷/畸形和 35 种罕见遗传性疾病的 215 篇文章。在这 215 篇文章中，82 篇将经验性疲劳的研究作为主要目的或结果。包括 9 篇二级研究文章（综述）和 206 篇一级研究文章。纳入的文章中儿童的数量较少。不同疾病的研究数量存在很大差异。只有 215 篇文章中的 29 篇描述了如何定义经验性疲劳的概念。报告的最常见的研究问题是患病率和/或疲劳的相关性。最少的是诊断（为特定患者群体开发或验证疲劳评估方法）。使用了多种方法来研究经验性疲劳，这既妨碍了不同诊断之间的比较，也妨碍了同一诊断内的比较。
本综述对罕见疾病中疲劳研究的特征进行了研究，发现了大量关于经验性疲劳的研究。然而，只有少数研究将经验性疲劳作为主要目的。经验性疲劳的定义和测量方法存在很大差异，无论是在同一诊断内还是跨诊断比较。需要对儿童和成人罕见病患者的经验性疲劳进行更多的研究。本综述为进一步研究提供了基础。
