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

IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria.
Research in developmental disabilities (Impact Factor: 4.41). 06/2012; 33(6):1715-21. DOI: 10.1016/j.ridd.2012.05.014
Source: PubMed


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. Gestures were classified as deictic gestures, play schemes, and representational gestures. Results of the analysis showed that the majority of gestures observed were of deictic character. There were no gestures that could be classified as play schemes and only two (e.g., head nodding and waving bye bye) that were coded as representational or symbolic gestures. The overall repertoire of gestures, even though not necessarily delayed in it's onset, was characterized by little variability and a restricted pragmatic functionality. We conclude that the gestural abilities in girls with RTT appear to remain limited and do not constitute a compensatory mechanism for the verbal language modality.

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Available from: Peter B Marschik,
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    • "They often exhibit babbling and phonological coupling except for the early onset variant. It has been demonstrated that linguistic competence levels are correlated to the language acquisition stage in which individuals were at the onset of regression (Marschik et al., 2012).Few studies have evaluated a genotype/phenotype correlation between linguistic residuals and specific genotype. Uchino and colleagues (2001) tried to correlate the grade of disability in locomotion and that of microcephalus with a language disability in RTT in a preliminary study and after they correlated language RTT to the loci of MECP2 mutation. "
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    ABSTRACT: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the MECP2 gene affecting around 1 in 10,000 female births. Clinical manifestations include severe linguistic and motor impairments that are the core of phenotype symptoms. Some patients show a moderate level of conservation of linguistic functions while others lose the use of functional verbal communication. This paper aims at correlating residual linguistic capacity, connected to breathing alterations, to specific RTT genotype. In particular, the relation between breathing alterations and the pathological severity caused by locus’mutation is investigated.
    • "Neither twin demonstrated communicative gestures. Previous studies described a very limited gestural repertoire in both typical RTT (Tams-Little and Holdgrafer 1996; Dahlgren Sandberg et al. 2000; Marschik et al. 2012d) and the preserved speech variant (Marschik et al. 2012b), and attributed the limited gestural repertoire to a difficulty in focusing their attention to relevant sources of information (Marschik et al. 2012d). "
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    ABSTRACT: The first 2 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. The videotapes were analysed to (a) describe the motor and communicative development of this twin pair with RTT; and to (b) explore whether early abnormalities and their age of onset differed between the twins and were related to their later clinical phenotypes. The results indicated several neurodevelopmental abnormalities present before the children exhibited any obvious signs of regression. Abnormalities were evident in the motor, speech-language and communicative domains. These data support an emerging evidence base showing the presence of developmental abnormalities in children with RTT during the first year of life. The results have implications for early screening and clinical assessment.
    Journal of Developmental and Physical Disabilities 04/2013; 26(2). DOI:10.1007/s10882-013-9351-3 · 1.56 Impact Factor
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    ABSTRACT: Objective: This study examined features of early language and motor milestones in children with fragile X syndrome (FXS) and contrasted these features with a diagnosis of Autism Spectrum Disorder (ASD) later in life in these children. Methods: We retrospectively examined parental report of age of onset for walking and first words for primarily boys with FXS, both with ASD (FXS + ASD) and FXS-only. The diagnosis of ASD was established by DSM-IV criteria, which were complemented by the ADOS. The age of onset was analyzed as a continuous and categorical variable, which were compared to the upper limit of typically developing children. Results: Individuals with FXS-only are more delayed in the onset of first words than first walks. The finding represents a pattern suggesting a continuum as robustly demonstrated in individuals with FXS + ASD vs. FXS-only. Conclusion: Our results support validity of FXS + ASD co-morbidity as a distinct phenotype in individuals with FXS.
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