Quality of Life Assessment in Prader–Willi Syndrome

  • Pietro Caliandro
  • Graziano Grugni
  • Domenica Taruscio
  • Yllka Kodra
  • Luca Padua


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.


High Birth Weight Mental Aspect Physical Composite Score Mental Composite Score Frequent Tiredness 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Behavior emotional


Bodily pain


Change health


Child Health Questionnaire-Parent Form 50


Family activity


Family cohesion


Global behavior emotional


Global general health


General health


Mental Composite Score


Mental health


Mini-Mental State


Physical Composite Score


Parental emotional


Physical functioning


Physical Score


Psychosocial Score


Parental time


Prader–Willi syndrome


Quality of life


Role – emotional


Role – emotional behavior


Role – physical




Social functioning


Short Form-36





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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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Pietro Caliandro
    • 1
    • 2
  • Graziano Grugni
  • Domenica Taruscio
  • Yllka Kodra
  • Luca Padua
  1. 1.Institute of NeurologyRomaItaly
  2. 2.Fondazione Pro Iuventute Don Carlo GnocchiRomaItaly

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