Work

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

Year: 2009

Type: article

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.

Source: Journal of Autism and Developmental Disorders

DOI: 10.1007/s10803-009-0703-x

Authors: Peter B. Marschik, Christa Einspieler, Andreas Oberle, Franco Laccone, Heinz F. R. Prechtl

Institutions: Medical University of Graz, Olgahospital, University of Göttingen, Medical University of Vienna

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,190