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Monozygotic Twins with Rett Syndrome: Phenotyping the First Two Years of Life

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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.

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Acknowledgments

We are grateful to Ing. Gunter Vogrinec for technical support.

Parts of the study were funded by the Austrian Research Fund, FWF P25241, and the Lanyar Foundation, Projects 337, 374.

Declaration of Interests

The authors report no conflict of interests. The authors alone are solely responsible for the content and writing of this paper.

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Authors and Affiliations

  1. Institute of Physiology (IN:spired; Developmental Physiology & Developmental Neuroscience), Center for Physiological Medicine, Medical University of Graz, Graz, Austria

    Christa Einspieler, Peter B. Marschik, Katrin D. Bartl-Pokorny & Thomas Wolin

  2. Centro Pró Autista, São Paulo, Brazil

    Wanderley Domingues

  3. Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, USA

    Victor B. Talisa

  4. School of Educational Psychology and Pedagogy, Victoria University of Wellington, Wellington, New Zealand

    Jeff Sigafoos

  5. Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010, Graz, Austria

    Christa Einspieler

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  1. Christa Einspieler
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  2. Peter B. Marschik
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  3. Wanderley Domingues
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  4. Victor B. Talisa
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  6. Thomas Wolin
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Correspondence to Christa Einspieler.

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Christa Einspieler and Peter B. Marschik contributed equally to this manuscript.

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Einspieler, C., Marschik, P.B., Domingues, W. et al. Monozygotic Twins with Rett Syndrome: Phenotyping the First Two Years of Life. J Dev Phys Disabil 26, 171–182 (2014). https://doi.org/10.1007/s10882-013-9351-3

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