ESPE Abstracts

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 prevalence of overweight and/or obesity is approximately 2 times higher in people with intellectual disability (ID). Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder linked to hypothalamic dysfunction. People with PWS display ID and a characteristic nutritional trajectory ranging from anorexia to hyperphagia, leading to early severe obesity. Other rare diseases with ID are associated with eating disorders and overweight. Toda...

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 ...