Abstract
SummaryThe dynamic course of Rett syndrome (RTT) is still said to begin with a period of apparently normal development although there is mounting evidence that individuals with RTT show behavioural peculiarities and abnormalities during their infancy. Their spontaneous general movements are abnormal from birth onwards. Normal cooing vocalisation and canonical babbling (if at all required) are interspersed with abnormalities such as proto-vowel and proto-consonant alternations produced on ingressive airstream, breathy voice characteristics, and pressed or high-pitched vocalisations. The gestural repertoire is limited. Certain developmental motor and speech-language milestones are not at all acquired or show a significant delay. Besides abnormal blinking, repetitive and/or long lasting tongue protrusion, and bizarre smiling, there are already the first body and/or hand stereotypies during the first year of life. We are currently on a promising way to define a specific set of behavioural biomarkers pinpointing RTT.
Highlights
Within the first 2 months of life, infants later diagnosed with Rett syndrome (RTT) had already poor repertoire general movements (GMs) [7, 18, 20, 21]; the sequence of their movement components was monotonous and the intensity, speed, and range of motion lacked the normal variability [13, 14]
In one of our first retrospective video analyses of infants later diagnosed with RTT we found that all 22 participants had the head centred in the midline by the 3rd month
Audio-video analysis and parental questionnaires revealed that infants later diagnosed with RTT had besides motor abnormalities deviant behaviours in their developing speech-language and socio-communicative domain (Table 1)
Summary
Mutations in the X-linked gene encoding Methyl-CpGbinding protein 2 (MeCP2) account for 95–97 % of cases of Rett syndrome (RTT, MIM312750), a genetic disorder affecting neurodevelopment, predominantly. Behavioural biomarkers of typical Rett syndrome: moving towards early identification 333 main topic
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