ESPE Abstracts

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received ...