Department of Dermatology, Liverpool Hospital, Sydney, Australia.
Faculty of Medicine, UNSW, Sydney, Australia.
Orphanet J Rare Dis. 2017 Dec 29;12(1):189. doi: 10.1186/s13023-017-0739-5.
Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and validation have hampered widespread acceptance and adoption.
To identify all published HR-QoL PROMs in genodermatoses and critically evaluate their development and measurement properties.
This systematic review was registered with PROSPERO (CRD42016053301). Ovid Medline, Embase and PsycINFO databases were utilised for literature review using predefined inclusion and exclusion criteria. PROM development was assessed using the COSMIN Checklist and measurement properties were assessed against quality criteria for measurement properties of health standard questionnaires.
15 HRQoL PROMs in genodermatoses were identified. Major areas of deficiency in development were internal consistency, reliability and structural validity. No PROM satisfied measurement property standards for agreement, responsiveness or floor and ceiling effects. Four PROMs included Minimal Important Change scores for interpretability. Issues regarding the generalisability of the evaluated PROMs in culturally diverse and paediatric populations remain unresolved.
The overall standards of development and measurement properties in PROMs in genodermatoses is fair, despite no single instrument meeting all requirements. None are perfectly validated according to COSMIN criteria but seven of the fifteen PROMs may be appropriate pending further validation. The development of culturally appropriate and child-specific variants of PROMs should be a priority in order to increase the utility of patient based outcome measures in genodermatoses in various patient populations.
健康相关生活质量（HR-QoL）患者报告结局测量（PROM）在评估新的基因皮肤病干预措施方面具有很高的实用性，但是开发和验证的标准不一致，阻碍了其广泛接受和采用。
确定所有已发表的基因皮肤病患者报告结局测量（PROM），并对其开发和测量性能进行严格评估。
本系统评价在 PROSPERO（CRD42016053301）上进行了注册。使用预设的纳入和排除标准，对 Ovid Medline、Embase 和 PsycINFO 数据库进行文献综述。使用 COSMIN 清单评估 PROM 的开发情况，并根据健康标准问卷测量性能的质量标准评估测量性能。
确定了 15 种基因皮肤病患者报告结局测量（PROM）。在开发过程中，主要存在内部一致性、可靠性和结构有效性等方面的不足。没有一种 PROM 满足协议、反应性或下限和上限效应的测量性能标准。四个 PROM 包括可解释性的最小重要变化分数。评估的 PROM 在文化多样性和儿科人群中的通用性问题仍未解决。
尽管没有一种仪器满足所有要求，但 PROM 在基因皮肤病中的开发和测量性能总体标准是公平的。根据 COSMIN 标准，没有一个是完全有效的，但这 15 个 PROM 中有七个可能是合适的，需要进一步验证。开发文化适当和儿童专用的 PROM 应成为优先事项，以提高基于患者的结局测量在各种患者群体中的基因皮肤病中的实用性。
