InterRett, a model for international data collection in a rare genetic disorder / Sandra LOUISE in Research in Autism Spectrum Disorders, 3-3 (July-September 2009)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 3-3 (July-September 2009) . - p.639-6959 Titre : InterRett, a model for international data collection in a rare genetic disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sandra LOUISE, Auteur ; Sue FYFE, Auteur Année de publication : 2009 Article en page(s) : p.639-6959 Langues : Anglais (eng) Mots-clés : Rett-syndrome International-database Rare-disorder MECP2 Phenotype Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five population-based studies and a MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 935 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation types was similar. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.12.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=729 [article] InterRett, a model for international data collection in a rare genetic disorder [Texte imprimé et/ou numérique] / Sandra LOUISE, Auteur ; Sue FYFE, Auteur . - 2009 . - p.639-6959. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 3-3 (July-September 2009) . - p.639-6959 Mots-clés : Rett-syndrome International-database Rare-disorder MECP2 Phenotype Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five population-based studies and a MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 935 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation types was similar. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.12.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=729

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