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 and 2015 to 2021).

Results: 403 patients born between 2005 and 2021 were studied: with a median age of 9.85 years and 50.6% boys. The genetic subtypes were specified for 360 patients (89.3%) of which 52.5% paternal deletion, 43.9% maternal uniparental disomy. The median parents’ age at birth of children did not change from children born in 2010 (34 years for mother and 38 years for father). Forty percent of parents had a very high education level (BAC+5/8), which is higher from the general population (34%, INSEE 2019). Age at diagnosis decreases over time from 1 month (min 0.1 to max 53) to 0.7 month (min 0 to max 13) for children born in or after 2015. No change was observed in weeks of amenorrhea, weight and length (SD) at birth over time. There was a trend of a lower incidence of caesarean section overtime (66% in [2005-2010] to 57%). The frequency of nasogastric tube feeding did not change (88% of patients at birth) but its duration increased from 30 days to more than 44 days (median at 42 days). This is probably explained by a better identification of choking. Respiratory problems (all causes) were more frequently identified at birth, from 38% to 64%. Concerning growth hormone treatment (GH), 337 patients (93%) are treated with GH at a median age at start of 1.12 years [Min 0.22 to Max 10.15]. The median age at start of GH decreased by birth year of children down to 0.8 years [Min 0.20 to Max 2.4].

Conclusions: The analysis of our database helped us to document the evolution of practices and care, and showed improvements with better identification and management of sucking disorders and respiratory problems at birth. A new tool, the Voozanoo® web application, has been developed for 0-4 years old PWS children to facilitate the inclusion of patients at birth, improve exhaustiveness and data collection by physicians who perform the routine follow-up.