The incidence of Rett syndrome in France

Pediatric Neurology
T BienvenuL Villard

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.

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Citations

Oct 6, 2010·Journal of Autism and Developmental Disorders·Linda DoddsSusan Bryson
May 19, 2011·Pediatric Research·Stephanie FehrHelen Leonard
Sep 26, 2013·Epigenomics·Takeo KubotaTakae Hirasawa
Sep 24, 2009·The Journal of Pediatrics·Russell S KirbyAlan K Percy
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Jul 1, 2009·Research in Autism Spectrum Disorders·Sandra LouiseHelen Leonard
Aug 21, 2007·Brain & Development·Nadia Bahi-BuissonChiron Catherine
Aug 19, 2015·Pediatric Neurology·Daniel C TarquinioAlan K Percy
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Jan 5, 2008·Journal of Child Neurology·Alan K PercyPatrick MacLeod
Dec 8, 2017·Journal of Intellectual Disability Research : JIDR·D Hirano, T Taniguchi
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Feb 20, 2019·Cells·Valeria CordoneGiuseppe Valacchi
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Aug 6, 2019·Frontiers in Integrative Neuroscience·Victor FaundezDaniel Tarquinio
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Aug 14, 2021·Pediatric Neurology·Olivia J VeatchDaniel G Glaze

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