Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation | Orphanet Journal of Rare Diseases | Full Text

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

• John W. FrewEmail author,
• Mark Davidson and
• Dedee F. Murrell

Orphanet Journal of Rare Diseases201712:189

https://doi.org/10.1186/s13023-017-0739-5

©  The Author(s). 2017

Received: 18 October 2017

Accepted: 7 December 2017

Published: 29 December 2017

Abstract

Background

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.

Objectives

To identify all published HR-QoL PROMs in genodermatoses and critically evaluate their development and measurement properties.

Methods

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.

Results

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.

Conclusions

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.

Keywords

Quality of lifePatient reported outcome measuresGenodermatosesCOSMIN checklistMeasurement properties