Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

The identification of all people with a diagnosis of Prader - Willi syndrome (PWS) confirmed by DNA methylation analysis living in Flanders was attempted through contact with the four genetic centres and the PWS Association. The birth incidence for the period 1993 - 2001 was 1: 26 676, the minimum prevalence at 31 December 2001 was 1: 76 574. A decreasing number of cases with age was found, which can be explained by a number of missing cases in the older population, a higher neonatal mortality in the past and an increasing mortality with age. Childhood death is usually sudden and associated with respiratory infection and high temperature, while the cause of death in adults is considered to be circulatory or respiratory in origin.