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Updated: Jun 25, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome
Peter B Marschik1, Christa Einspieler, Andreas Oberle
1Institute of Physiology (Developmental Physiology and Developmental Neurology), Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, Graz 8010, Austria.
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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