Pediatr Neurol. 2006 May;34(5):372-5
The Incidence of Rett Syndrome in France
Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
University Paris 5, Centre National de la Recherche Scientifique/Unitre Mixte de Reserche 8104, Paris, France
Abstract
Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome and French laboratories have organized a clinical and molecular network to investigate the incidence of Rett syndrome in France including the results of molecular investigations. The present study, based on a large cohort of 424 patients with Rett syndrome, found that the incidence of this disease with a MECP2 mutation varied between 0.43 to 0.71 per 10,000 females. The total population of females aged 4-15 years in November 2004 in France was estimated to be 4,337,627. The data presented here indicate a prevalence of Rett syndrome of 0.558 per 10,000 females aged 4-15 years in France. The incidence of Rett syndrome is in accordance with other European epidemiologic studies based on clinical examination. Given that this is a minimum incidence because complete inventory was not possible, this study of patients with Rett syndrome reinforces the fact that the great majority of patients with Rett syndrome have a MECP2 mutation.Lay Summary
Population studies have shown that mutations in the MeCP2 gene represent one of the most frequent causes of mental retardation in females. In this report, it is outlined that the prevalence range of Rett syndrome is between 1 in 10000-25000 females. To add to this knowledge base, the authors report on the incidence of Rett syndrome in France. As was to be expected, they report a similar incidence: 0.558 per 10,000 females aged 4-15 years, or 1 in 18,000 girls. Interestingly, they comment that the worldwide incidence of Rett syndrome is more common than that of phenylketonuria (PKU; 1 in 16,394). PKU, if left untreated, can lead to progressive mental retardation, and thus screening is done routinely in most industrialized countries. The authors propose that systematic neonatal screening for Rett syndrome in the general population may be warranted in the future, upon the development of efficient therapeutic strategies.