Quality of Life Assessment in Prader–Willi Syndrome
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.
KeywordsHigh Birth Weight Mental Aspect Physical Composite Score Mental Composite Score Frequent Tiredness
Child Health Questionnaire-Parent Form 50
Global behavior emotional
Global general health
Mental Composite Score
Physical Composite Score
Quality of life
Role – emotional
Role – emotional behavior
Role – physical
Luigi Gargantini Azienda Ospedaliera di Treviglio, Treviglio (BG).
Letizia Ragusa I.R.C.C.S. Oasi Maria S.S. Troina (ENNA).
Antonio Crinò Ospedale Pediatrico Bambino Gesù, Palidoro Roma.
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