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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Abbreviations
- BE:
-
Behavior emotional
- BP:
-
Bodily pain
- CH:
-
Change health
- CHQ-PF50:
-
Child Health Questionnaire-Parent Form 50
- FA:
-
Family activity
- FC:
-
Family cohesion
- GBE:
-
Global behavior emotional
- GGH:
-
Global general health
- GH:
-
General health
- MCS:
-
Mental Composite Score
- MH:
-
Mental health
- MMS:
-
Mini-Mental State
- PCS:
-
Physical Composite Score
- PE:
-
Parental emotional
- PF:
-
Physical functioning
- PHS:
-
Physical Score
- PSS:
-
Psychosocial Score
- PT:
-
Parental time
- PWS:
-
Prader–Willi syndrome
- QoL:
-
Quality of life
- RE:
-
Role – emotional
- REB:
-
Role – emotional behavior
- RP:
-
Role – physical
- SE:
-
Self-esteem
- SF:
-
Social functioning
- SF-36:
-
Short Form-36
- VT:
-
Vitality
References
Andresen EM, Lollar DJ, Meyers AR. Arch Phys Med Rehabil. 2000;81:S1–4.
Apolone G, Mosconi P, Ware JE. Questionario sullo stato di salute SF-36. Milano: Guerini e associate; 1997.
Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T. Dev Med Child Neurol. 2002;44:248–55.
Caliandro P, Grugni G, Padua L, Kodra Y, Tonali P, Gargantini, L, Ragusa L, Crinò A and Taruscio D. J Paediatr Child Health. 2007;43:826–30.
D’Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. Eur J Med Genet. 2006;49:451–60.
Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. Am J Med Genet. 2006;140:434–41.
Eiholzer U, Whitman BY. J Pediatr Endocrinol Metab. 2004;17:1153–75.
Goldstone A. Trends Endocrinol Metab. 2004;15:12–20.
Guyatt GH, Feeny DH, Patrick DL. Ann Intern Med. 1993;118:622–29.
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. Pediatrics. 1993;91:398–402.
Landgraf JM, Abetz L, Ware JE. The CHQ User’s Manual. Boston: The Health Institute, New England Medical Center; 1996.
Padua R, Romanini E, Zanoli G. L’analisi dei risultati nella patologia dell’apparato locomotore: Outcome research e questionari di autovalutazione. Milan: Guerini Editore; 1998.
Ruperto N, Ravelli A, Pistorio A, Malattia C, Viola S, Cavuto S for the Paediatric Rheumatology International Trials Organisation (PRINTO). Clin Exp Rheumatol. 2001;19:S91–5.
Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, Cassidy SB, Schrander JJ, Fryns JP. Am J Med Genet A. 2004;124:333–8.
Thomson AK, Glasson EJ, Bittles AH. J Intellect Disabil Res. 2006;50:69–78.
Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP. Eur J Hum Genet. 2004;12:238–40.
Ware JE, Kosinski M, Keller SK. SF-36 Physical and Mental Health Summary Scales: A user’s manual. Boston: New England Medical Centre; 1994.
Acknowledgments
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Caliandro, P., Grugni, G., Taruscio, D., Kodra, Y., Padua, L. (2011). Quality of Life Assessment in Prader–Willi Syndrome. In: Preedy, V., Watson, R., Martin, C. (eds) Handbook of Behavior, Food and Nutrition. Springer, New York, NY. https://doi.org/10.1007/978-0-387-92271-3_195
Download citation
DOI: https://doi.org/10.1007/978-0-387-92271-3_195
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-92270-6
Online ISBN: 978-0-387-92271-3
eBook Packages: MedicineMedicine (R0)