Patient-reported outcome measures used for differences of sex development: Readability analysis and content mapping

Area of Science:

• Medical Research
• Patient Outcomes
• Health Informatics

Background:

• Differences of sex development (DSD) encompass a range of congenital conditions affecting sex development.
• Individuals with DSD face unique challenges, yet their self-assessed outcomes are poorly understood.
• Existing patient-reported outcome measures (PROMs) may not adequately capture the experiences of individuals with DSD.

Purpose of the Study:

• To systematically review the quality, range, and readability of PROMs used in individuals with DSD.
• To assess the content of commonly used PROMs against established health-related quality of life frameworks.
• To identify gaps and inform the development of better outcome assessment tools for DSD.

Main Methods:

• A comprehensive systematic search of multiple electronic databases was performed.
• Included studies were published in English and reported on patient-completed PROMs for DSD.
• Readability analysis used established metrics, and PROM content was mapped to a health-related quality of life framework.

Main Results:

• 24 PROMs were analyzed from 163 included studies, with participant ages ranging from 7 to 50 years.
• Half of the PROMs failed to meet recommended readability levels, with scores varying widely.
• PROM content predominantly focused on psychological, sexual, and social wellbeing, with significant heterogeneity and outdated terminology noted.

Conclusions:

• Many widely used PROMs in DSD research exhibit poor readability and do not meet recommended standards.
• Existing PROMs demonstrate substantial content heterogeneity and lack comprehensiveness for the DSD population.
• There is an urgent need for a validated, DSD-specific PROM to improve outcome assessment and patient care.