Recommendations for the diagnosis and management of Prader-Willi syndrome.
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.


METHODS
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.


METHODS
Invited participants with particular expertise reviewed the published evidence base for their specialist topic and unpublished data from personal experience, previous national and international PWS conferences, and PWS Association clinical advisory groups.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.


METHODS
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.
Goldstone
A P
AP
Department of Investigative Medicine, Medical Research Center Clinical Sciences Centre and Endocrine Unit, Hammersmith Hospital, Imperial College London, UK.
Holland
A J
AJ
Hauffa
B P
BP
Hokken-Koelega
A C
AC
Tauber
M
M
D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D019175:DNA Methylation; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics; D010287:Parent-Child Relations; D010348:Patient Care Team; D017410:Practice Guidelines as Topic; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D055517:snRNP Core Proteins / Q000235:genetics
D009687:Nuclear Proteins; C526417:SNRPN protein, human; C445239:SNURF protein, human; D055517:snRNP Core Proteins