Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome

2014 | journal article

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​Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome​
Marschik, P. B. ; Vollmann, R.; Bartl-Pokorny, K. D.; Green, V. A.; van der Meer, L.; Wolin, T. & Einspieler, C.​ (2014) 
Developmental Neurorehabilitation17(4) pp. 284​-290​.​ DOI: https://doi.org/10.3109/17518423.2013.783139 

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Authors
Marschik, Peter B. ; Vollmann, Ralf; Bartl-Pokorny, Katrin D.; Green, Vanessa A.; van der Meer, Larah; Wolin, Thomas; Einspieler, Christa
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.
Issue Date
2014
Journal
Developmental Neurorehabilitation 
ISSN
1751-8423
eISSN
1751-8431
Language
English

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