Aim: The goals of this study are to investigate the quality of life of Prader-Willi syndrome patients and to evaluate the relationship between quality of life and the clinical picture.
Methods: We performed a multicentric study on 40 consecutive patients with Prader-Willi syndrome. Quality of life was evaluated through the Short Form-36 and the Child Health Questionnaire-Parent Form-50 according to the age of patients.
Results: In patients older than 14 years old, quality of life is intensely impaired both in mental and physical aspects. Weight at the moment of the observation, birthweight and facial features are the main variables that influence quality of life. In patients who are 14 years old or younger, the Family Activity and Physical scores are lower for those patients with characteristic facial features and in patients with decreased fetal movement or infantile lethargy. Self-esteem is lower in patients with a higher Mini Mental Score.
Conclusions: Physical and mental aspects of quality of life are impaired in Prader-Willi patients, weight is the clinical finding which mainly influences negatively the physical aspects of quality of life. However, weight does not cause mental problems. These are mainly due to the presence of characteristic facial features. Interestingly, a high birthweight is associated with less impairment of the mental aspects of quality of life.