Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.

The first two years of life for children with Rett syndrome (RTT) have previously been viewed as relatively asymptomatic. However, it is possible that subtle symptoms may be present in early development. To identify possible early indicators of RTT, we analysed videotapes of two twin girls with RTT.

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

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.

Tracking development from early speech-language acquisition to reading skills at age 13.

Objective: Previous studies have indicated a link between speech-language and literacy development. To add to this body of knowledge, we investigated whether lexical and grammatical skills from toddler to early school age are related to reading competence in adolescence.

Methods: Twenty-three typically developing children were followed from age 1;6 to 13;6 (years;months).

Changing the perspective on early development of Rett syndrome.

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection.

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.

Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers.

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

We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis of a video footage.