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Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

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 firs...

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Autores principales: Marschik, Peter B., Einspieler, Christa, Oberle, Andreas, Laccone, Franco, Prechtl, Heinz F. R.
Formato: Texto
Lenguaje:English
Publicado: Springer US 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085750/
https://www.ncbi.nlm.nih.gov/pubmed/19224352
http://dx.doi.org/10.1007/s10803-009-0703-x
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author Marschik, Peter B.
Einspieler, Christa
Oberle, Andreas
Laccone, Franco
Prechtl, Heinz F. R.
author_facet Marschik, Peter B.
Einspieler, Christa
Oberle, Andreas
Laccone, Franco
Prechtl, Heinz F. R.
author_sort Marschik, Peter B.
collection PubMed
description 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.
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spelling pubmed-30857502011-06-06 Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome Marschik, Peter B. Einspieler, Christa Oberle, Andreas Laccone, Franco Prechtl, Heinz F. R. J Autism Dev Disord Letter to the Editor 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. Springer US 2009-02-18 2009-06 /pmc/articles/PMC3085750/ /pubmed/19224352 http://dx.doi.org/10.1007/s10803-009-0703-x Text en © Springer Science+Business Media, LLC 2009
spellingShingle Letter to the Editor
Marschik, Peter B.
Einspieler, Christa
Oberle, Andreas
Laccone, Franco
Prechtl, Heinz F. R.
Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title_full Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title_fullStr Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title_full_unstemmed Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title_short Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
title_sort case report: retracing atypical development: a preserved speech variant of rett syndrome
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085750/
https://www.ncbi.nlm.nih.gov/pubmed/19224352
http://dx.doi.org/10.1007/s10803-009-0703-x
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