Quality of Life Assessment in Prader–Willi Syndrome

Abstract

Prader–Willi syndrome (PWS) is a neurogenetic disorder, characterized by neonatal hypotonia, mental and motor development retardation, hypogonadism, hyperphagia, morbid obesity, and dysmorphic facial features. The complex clinical picture may cause disability and an involvement of the quality of life (QoL). The QoL of PWS patients has been evaluated using validated patient-oriented tools. The Short Form-36 (SF-36) and the Child Health Questionnaire-Parent Form 50 (CHQ-PF50) were used according to the patient’s age. CHQ-PF50 was used to evaluate patients from 6 to 14 years old, while the SF-36 was used in patients older than 14 years and in those whose Mini-Mental State score was 24 or more. In patients older than 14 years, QoL is intensely impaired both in the mental and physical aspects. Only the sub-score vitality (VT) shows any statistical difference if compared to VT of the Italian population matched per age. In patients older than 14 years, the physical aspects of QoL are mainly influenced by weight; the higher the weight, the worst is QoL regarding the physical aspects. Unexpectedly, a more severe obesity does not cause more impairment of QoL due to emotional aspects. On the other hand, mental aspects are negatively and mainly influenced by the presence of characteristic facial features and positively influenced by a high birth weight. In patients who were 14 years old or younger, QoL was impaired in both physical and mental aspects. The physical aspects of QoL are mainly influenced by the presence of decreased fetal movement/infantile lethargy and the presence of characteristic facial features. It is interesting to note that patients with a high MMS have a low self-esteem.