Abstract
BACKGROUND: Caring for individuals with rare diseases (RDs) presents unique challenges that can significantly impact caregivers' quality of life (QoL). The World Health Organization Quality of Life-BREF (WHOQOL-BREF) is a widely used tool for assessing QoL across different populations. OBJECTIVE: This study examines the QoL of caregivers of individuals with RDs and evaluates the psychometric properties of the WHOQOL-BREF in this population. METHODS: A self-administered, anonymous, computer-assisted web-based survey was conducted among family caregivers of individuals with RDs in Poland between March and August 2024. Due to the lack of a national registry of patients with RDs, participants were recruited through convenience sampling via associations, foundations, and organizations of patients with RDs. Eligibility criteria included being 18 years and older of age, speaking Polish, being a caregiver of a person with a confirmed RD diagnosis, and providing informed consent. The survey included sociodemographic questions and the Polish version of the WHOQOL-BREF, which assesses QoL across 4 domains: physical health, psychological health, social relationships, and environment. Internal consistency was assessed using Cronbach α, and confirmatory factor analysis was conducted to examine the instrument's structural validity. RESULTS: A total of 942 caregivers of individuals with various RDs participated in the study. Confirmatory factor analysis supported the 4-domain structure, with further improvement in a finally modified WHOQOL-BREF model (χ2243=1043.0; P<.001; Comparative Fit Index=0.919; Tucker-Lewis Index=0.907; root-mean-square error of approximation=0.059). Internal consistency was satisfactory, with Cronbach α values ranging from 0.70 (social relationships) to 0.84 (psychological health). Mean domain scores on a scale of 0-100 were 50.2 (SE 0.59; physical health), 54.9 (SE 0.59; psychological health), 51.3 (SE 0.67; social relationships), and 52.1 (SE 0.56; environment), with minimal floor and ceiling effects (≤1.4%) across domains. Younger female caregivers reported significantly lower psychological health (eg, mean 43.6, SE 0.59 vs mean 59.9, SE 10.0 for younger male caregivers) and social relationships (mean 39.3, SE 3.34 vs mean 55.0, SE 4.75) well-being compared to other groups. Exactly 151 (16%) of caregivers rated their overall QoL as poor or very poor, and 289 (30.7%) were dissatisfied or very dissatisfied with their health, with female caregivers reporting more dissatisfaction (n=263, 32.4%) than male caregivers (n=26, 20%). Overall, our findings demonstrate the robust psychometric properties of the WHOQOL-BREF among caregivers of people with RDs and provide domain-specific normative data to guide future research and interventions. CONCLUSIONS: The WHOQOL-BREF is a reliable and valid instrument for assessing QoL among caregivers of individuals with RDs, though the social relationship domain may require further refinement. Caregivers experience varying QoL outcomes depending on demographic factors, highlighting the need for targeted support interventions. Future research should explore cultural adaptations and potential supplementary modules to enhance the instrument's applicability in caregiver populations.