Ralf Vollmann

Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.

Aim  Our aim was to contribute new findings related to the pre‐regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech–language development of females who are considered to have preserved some speech–language abilities.

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

Highlights ► The emergence of first gestures in girls with RTT is not necessarily delayed. ► The repertoire of communicative gestures, however, is restricted. ► Although girls with RTT have difficulties in their verbal communicative domain, gestures do not constitute a compensatory mechanism. ► A limited repertoire of gestures and qualitative peculiarities in other speech-language domains might be characteristic for a severe neurodevelopmental disorder like RTT.

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.