Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe disabilities such as morbid obesity, as well as behavioral and socialization problems. We are greatly lacking in information on the natural history of this complex disease and the factors involved in its progression and outcome. Early diagnosis and a multidisciplinary approach can prevent obesity in most cases, while behavioral and psychiatric problems often remain unresolved. Recent imaging studies in patients with PWS have shown hypoperfusion in anterior cingulum known to be related with understanding of social codes. Moreover, oxytocin (OT) administration is involved in establishing and maintaining social codes. Its modality of administration isn’t yet known and has to be determined to help patients with PWS understanding their social environment.
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Emilie Dardet, Marco Del Cane (2), Danielle Dupont, Vanessa Fauquesz, Rachel Fernandez-Hansen, Florence & Christophe Alin, Association Prader-Willi France (23), Amber Harkin, Daniel Hedstrom, Linda & Stephen Hedstrom (2), Maria Isaac, Jean Edouard Cambournac(19), Craig Jenness, Keegan Johnson, Edward Klarman, Jeannine Kowal, Laurianne Vedeau, Howard Levine, Nathalie Darquest (4), Karolyn Porter, Hans Storr, John Storr, Meribeth Straub, Theresa Strong, Allan Thomas, Abby Tillson, Alice Viroslav (2)
Research Outcomes: Publications
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients. Tauber M, Mantoulan C, Copet P, Jauregui J, Demeer G, Diene G, Rogé B, Laurier V, Ehlinger V, Arnaud C, Molinas C, Thuilleaux D. Orphanet Journal of Rare Diseases. 2011 Jun 24;6:47. doi: 10.1186/1750-1172-6-47.
Dr. Mathie Tauber
Children's Hospital, Toulouse, France