Health‐Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader–Willi Syndrome in Japan

Prader-Willi syndrome (PWS) is a rare neurogenetic disorder characterized by endocrine, metabolic, behavioral, and psychiatric features. These manifestations may affect health-related quality of life (HRQOL). Evidence on HRQOL in adolescents and adults with PWS remains limited. This study evaluated HRQOL and examined sex, age, genetic, and behavioral factors associated with HRQOL in individuals with genetically confirmed PWS aged 16 years and over. A proxy-reported questionnaire survey was conducted through a Japanese national PWS support group, and responses from 119 participants (median age, 25 years) were analyzed. The primary outcome was a EuroQol five-dimension five-level (EQ-5D-5L) index value in the upper tertile of the study distribution (≥ 0.744). The median EQ-5D-5L index value was 0.665 (IQR, 0.549-0.775), and the mean was 0.652 (SD, 0.180). Only 4.3% of participants reported no problems in any dimension. Younger age (16-19 years) (OR, 4.62; 95% CI, 1.42-15.1), the deletion genetic subtype (4.79; 1.15-20.0), and lower problematic food-related behaviors (0.90; 0.83-0.97) were independently associated with an EQ-5D-5L index value in the upper tertile. Support during the transition from late adolescence to early adulthood and attention to problematic food-related behaviors may be important for improving the HRQOL of individuals with PWS.