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

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... rticipants with particular expertise reviewed the published evidence base for their specialist topic and unpublished data from personal experience, previous national and international PWS conferences, and PWS Association clinical advisory groups.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. (J Clin Endocrinol Metab 93: 4183-4197, 2008) P rader-Willi syndrome (PWS) is a complex multisystem genetic disorder that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13 (1-5). The syndrome has characteristic phenotypes (6, 7) including severe neonatal hypotonia; early onset of hyperphagia; and development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric phenotypes with severe consequences and difficult management issues for patients, families, and care givers (6 -10). Whereas earlier prevalence estimates in the United States were in the range of 1 in 8,000 -20,000, recent epidemiological surveys in Europe and Australia have estimated the lower limit of birth incidence at