Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome |
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| Authors: | Peter B. Marschik Christa Einspieler Andreas Oberle Franco Laccone Heinz F. R. Prechtl |
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| Affiliation: | (1) Institute of Physiology (Developmental Physiology and Developmental Neurology), Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010 Graz, Austria;(2) Department of Pediatrics, Olgahospital, Stuttgart, Germany;(3) Department for Medical Genetics, Section Genetic Counseling, Medical University of Vienna, Vienna, Austria;(4) Institute of Human Genetics, University of Goettingen, Goettingen, Germany |
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| Abstract: | 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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| Keywords: | Autism spectrum Development Genetic disorder General movements Language MECP2 Stereotypies |
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