18 de enero de 2012

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

Fuente original: http://jcem.endojournals.org/content/93/11/4183.full


  1. A. P. Goldstone,
  2. A. J. Holland,
  3. B. P. Hauffa,
  4. A. C. Hokken-Koelega,
  5. M. Tauber and
  6. on behalf of speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS
- Author Affiliations
  1. Department of Investigative Medicine (A.P.G.), Medical Research Center Clinical Sciences Centre and Endocrine Unit, Hammersmith Hospital, Imperial College London W12 ONN, United Kingdom; Department of Psychiatry (A.J.H.), Section of Developmental Psychiatry, University of Cambridge, Cambridge CB2 8AH, United Kingdom; Department of Endocrinology (B.P.H.), University Children’s Hospital, 45122 Essen, Germany; Department of Pediatric Endocrinology (A.C.H.-K.), Erasmus University Medical Centre and Sophia Children’s Hospital, 3000 DR Rotterdam, The Netherlands; and Department of Endocrinology (M.T.), Hôpital des Enfants and Paul Sabatier Université, 31059 Toulouse, France
  1. Address all correspondence and requests for reprints to: Professor Maïthé Tauber, Equipe d’Endocrinologie, Hôpital des Enfants, 330 Avenue de Grande Bretagne, TSA 70034, 31059 Toulouse cedex 9, France. E-mail: tauber.mt@chu-toulouse.fr.

Abstract

Objective: The objective of the study was to provide recommendations for the diagnosis and management of Prader-Willi syndrome throughout the life span to guide clinical practice.
Participants: An open international multidisciplinary expert meeting was held in October 2006 in Toulouse, France, with 37 invited speakers and session chairs (see Acknowledgments) and 85 additional registered participants. The meeting was supported by an unrestricted educational grant from Pfizer.
Evidence: Invited participants with particular expertise reviewed the published evidence base for their specialist topic and unpublished data from personal experience, previous national and international PWS conferences, and PWS Association clinical advisory groups. Sessions covered epidemiology, psychiatric, and behavioral disorders; breathing and sleep abnormalities; genetics; endocrinology; and management in infancy, childhood, transition, and adulthood.
Consensus Process: This included group meetings including open discussion after each session. The guidelines were written by the Scientific Committee (authors), using the conclusions provided by the sessions chairs and summary provided by each speaker, including incorporation of changes suggested after review by selected meeting participants (see Acknowledgments).
Conclusions: The diagnosis and management of this complex disorder requires a multidisciplinary approach with particular emphasis on the importance of early diagnosis using accredited genetic testing, use and monitoring of GH therapy from early childhood, control of the food environment and regular exercise, appropriate management of transition, consideration of group home placement in adulthood, and distinction of behavioral problems from psychiatric illness.
Recommendations are provided for diagnosis and management of Prader-Willi syndrome to guide clinical practice throughout these patients’ lifespans.