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 developed. The French Reference Centre for PWS (FRC-PWS) was created in 2004 with the aim to structure the care of people with associating scientific and medical expertise. In this analysis, we target to report leading causes of mortality among the French patients with Prader-Willi Syndrome over ten years of the nationwide FRC-PWS.
Methods: This study relied on two sources of mortality information at national level between 2004 and 2014: The French Epidemiological Centre for the Medical Causes of Death (CépiDc) Registry and the FRC-PWS database. Leading causes of death were classified into 7 categories: respiratory, cardiovascular, non-respiratory infection, accidents, sudden/unexplained death, other causes of death and unspecified/unknown. Descriptive statistics were calculated separately for children (<18 years-old) and adults (18 years-old).
Results: One hundred four deaths were identified in France from 2004 to 2014. Their median age at death was 30 years ranging from a few months to 58 years-old. Seventeen deaths occurred in <18 years-old patients, 70% of them were ≤2 years-old. Respiratory causes accounted for more than 50% of deaths in patients with Prader-Willi syndrome. Among adults most of deaths were triggered by a respiratory failure while the main cause of death was respiratory infection among children. Sudden or unexplained death was reported as a cause of death for 4 children and 16 adults emerging as the second predominant cause of death among this population. No significant differences were found by gender or genetic subtype regarding the reasons of death. Mean age at death does not differ according to gender or genetic subtype.
Conclusions: PWS is per se a condition that can result in premature death. These findings highlight the respiratory vulnerability in PWS patients. The principal causes of death are respiratory-related for all ages and, in most adults secondary to the complications of obesity. Thus, obesity prevention and adequate management of respiratory problems are the two most important ways to lower the mortality rate in this population.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology