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Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome
Authors:Peter B Marschik  Ralf Vollmann  Katrin D Bartl-Pokorny  Vanessa A Green  Larah van der Meer  Thomas Wolin
Institution:1. Institute of Physiology (IN:spired;2. Developmental Physiology and Developmental Neuroscience), Center for Physiological Medicine, Medical University of Graz GrazAustria;3. Department of Linguistics, Karl-Franzens-University of Graz GrazAustria;4. Department of Educational Psychology, Victoria University of Wellington WellingtonNew Zealand
Abstract:Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years.

Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences.

Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality.

Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.

Keywords:Communication  language  preserved speech variant  Rett syndrome  speech
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