Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome / Peter B. MARSCHIK in Journal of Autism and Developmental Disorders, 39-6 (June 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.958-961 Titre : Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Peter B. MARSCHIK, Auteur ; Heinz F. R. PRECHTL, Auteur ; Christa EINSPIELER, Auteur ; Andreas OBERLE, Auteur ; Franco LACCONE, Auteur Année de publication : 2009 Article en page(s) : p.958-961 Langues : Anglais (eng) Mots-clés : Autism-spectrum Development Genetic-disorder General-movements Language MECP2 Stereotypies Index. décimale : PER Périodiques Résumé : The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life. En ligne : http://dx.doi.org/10.1007/s10803-009-0703-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759 [article] Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome [Texte imprimé et/ou numérique] / Peter B. MARSCHIK, Auteur ; Heinz F. R. PRECHTL, Auteur ; Christa EINSPIELER, Auteur ; Andreas OBERLE, Auteur ; Franco LACCONE, Auteur . - 2009 . - p.958-961. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.958-961 Mots-clés : Autism-spectrum Development Genetic-disorder General-movements Language MECP2 Stereotypies Index. décimale : PER Périodiques Résumé : The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life. En ligne : http://dx.doi.org/10.1007/s10803-009-0703-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759

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