Brief Report: Systematic Review of Rett Syndrome in Males / Brian REICHOW in Journal of Autism and Developmental Disorders, 45-10 (October 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383 Titre : Brief Report: Systematic Review of Rett Syndrome in Males Type de document : Texte imprimé et/ou numérique Auteurs : Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur Article en page(s) : p.3377-3383 Langues : Anglais (eng) Mots-clés : Rett syndrome  Rett’s syndrome  RTT  Male  Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268 [article] Brief Report: Systematic Review of Rett Syndrome in Males [Texte imprimé et/ou numérique] / Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur . - p.3377-3383. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383 Mots-clés : Rett syndrome  Rett’s syndrome  RTT  Male  Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268

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