Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2829-516, Caparica, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2829-516, Caparica, Portugal.
Orphanet J Rare Dis. 2018 Nov 28;13(1):215. doi: 10.1186/s13023-018-0953-9.
BACKGROUND: Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant. OBJECTIVES: We aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs. METHODS: A scoping review was conducted using methods outlined by Arksey and O'Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks. RESULTS: Of the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions. CONCLUSIONS: HrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs' and ObsROMs' creation and validation in IMDs.
背景：健康相关生活质量（HrQoL）是一个多维的衡量标准，已经在临床和社会中得到了广泛的关注。在临床研究和医疗环境中，实施以患者为中心的方法，增加了对患者和/或观察者报告的结果测量（PROMs 或 ObsROMs）作为评估 HrQoL 信息和可靠工具的认可。遗传性代谢疾病（IMDs）是一组异质性疾病，其表型从轻度到重度不等，且大多数缺乏有效治疗方法。因此，HrQoL 评估尤为重要。
目的：我们旨在：（1）确定 IMDs 中使用的患者和/或护理人员报告的 HrQoL 工具；（2）确定每种 HrQoL 工具的主要应用结果；（3）评估在 IMDs 中，HrQoL 工具和研究设计/方法的主要局限性。
方法：使用 Arksey 和 O'Malley 概述的方法进行了范围综述。此外，我们对每篇文章进行了批判性分析，以确定 HrQoL 研究的缺陷。
结果：在 1954 项研究中，有 131 项研究使用 PROMs 和/或 ObsROMs 评估了 IMDs 患者的 HrQoL，这些研究均为观察性或干预性研究。总共确定了 32 种用于自我或代理完成的 HrQoL 工具；其中只有 2%是疾病特异性的。多种工具（包括通用和疾病特异性）都被证明对 HrQoL 的变化具有反应性；SF-36 和 PedsQL 问卷分别是成人和儿科人群中最常用的工具。此外，代理数据通常被证明是一种可靠的方法，可以补充自我报告的 HrQoL 评分。然而，由于这些疾病的罕见性，仍存在许多局限性。
结论：在 IMDs 中，HrQoL 仍未得到广泛评估。然而，我们的结果显示了在该领域使用患者报告的 HrQoL 工具的成功案例。HrQoL 测量对临床研究和治疗开发的重要性，促使人们进一步研究 IMDs 中 HrQoL PROMs 和 ObsROMs 的创建和验证。
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