Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome

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.

• Communication
• language
• preserved speech variant
• Rett syndrome
• speech

Acknowledgements

We would like to thank our participant and her family for their co-operation, effort and kindness throughout the study. We would further like to thank Dr Angus Clarke and Dr Franco Laccone for sharing their expertise in genetics; Dr Andreas Oberle for discussing the pediatric aspects of our participant; and Mag. Sonja Hepflinger for data transcription and analysis.