Assessment of quality of life and psychological well-being in Italian adult subjects with Prader–Willi syndrome using the Health Survey Short Form and the Psychological General Well-Being Index questionnaires

Prader–Willi syndrome (PWS) is a rare, genetically determined neurodevelopmental disorder. Individuals with PWS face numerous challenges that significantly impact their psychological well-being and quality of life, ultimately limiting their personal and social functioning. This study aimed to evaluate the quality of life and psychological well-being in a sample of Italian adult patients with PWS compared to an age-matched control group of normal-weight Italian individuals. Methods: Thirty patients with PWS (11 men and 19 women; mean age ± SD: 36.4 ± 10.31 years; mean Body Mass Index (BMI: 35.7 ± 8.92 kg/m2) and thirty Italian adult individuals from the general population (5 men and 25 women; mean age ± SD: 32.1 ± 6.86 years; mean Body MassIndex (BMI: 21.8 ± 2.90 kg/m2) were studied. Quality of life and well-being were assessed using the Italian versions of the 36-item Health Survey Short Form and the Psychological General Well-Being Index. Results: Normal-weight subjects scored significantly higher than PWS patients on the physical health (p < 0.001) and social functioning (p = 0.047) subscales of the SF-36. Conversely, PWS patients scored higher on the vitality subscale (p < 0.001). Similarly, the vitality subscale of the PGWBI was significantly higher in PWS patients than in controls (p = 0.010), whereas the Self-Control subscale of the PGWBI was higher in controls compared to PWS patients, albeit not statistically significant (p = 0.057). Discussion: Patients with PWS exhibited impairments in various aspects of quality of life and psychological well-being, including physical, behavioral, and social domains. However, the higher vitality scores observed in PWS patients suggest a preserved dimension of their psychological well-being. Conclusions: These findings enhance the understanding of the psychological condition of patients with PWS and provide valuable insights for improvingmultidisciplinary psychological treatment approaches for these individuals. These data cannot be made publicly available as they include sensitive information, but they can be made available upon reasonable request of interested researchers to the corresponding author, who will forward a data transfer agreement request to the relevant Ethical Committee. Requests can be addressed to Dr. Alessandro Sartorio ([email protected]).