Validation of a parent-reported outcome measure for young boys with a condition affecting sex development (PRO-CSD)

Area of Science:

• Pediatric Endocrinology
• Genitourinary Medicine
• Psychometrics

Background:

• Conditions Affecting Sex Development (CSD) impact young boys, necessitating validated tools to assess health-related quality of life.
• Parent-reported outcomes (PROs) are crucial for capturing the patient and family perspective in pediatric healthcare.
• Existing PROs may not adequately address the specific concerns of children with CSD.

Purpose of the Study:

• To validate a brief, parent-reported outcome questionnaire (PRO-CSD) for young boys with CSD.
• To assess the psychometric properties, including reliability and validity, of the PRO-CSD.
• To establish the utility of the PRO-CSD for screening health-related quality of life.

Main Methods:

• A consecutive sample cross-sectional study was conducted at a tertiary children's hospital.
• Ninety-eight parents of boys with CSD (median age 3.1 years) completed the PRO-CSD, comprising parent proxy-report (PPR) and parent self-report (PSR) components.
• Test-retest reliability was assessed using intraclass correlation coefficients (ICCs), and group construct validity was explored through associations with demographic and clinical features.

Main Results:

• The PRO-CSD demonstrated good test-retest reliability, with a median ICC of 0.8.
• Parental concern regarding genitalia was associated with the external masculinisation score (EMS) on the PSR (p=0.01).
• EMS was a significant independent determinant of the overall PSR score, and socioeconomic factors influenced PPR concerns.

Conclusions:

• The PRO-CSD questionnaire exhibits favorable psychometric properties, confirming its utility.
• The tool effectively screens parent-reported, condition-specific quality of life outcomes in boys with CSD.
• PRO-CSD supports the assessment of health-related quality of life from the parent's perspective in this population.