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Einspieler, C; Marschik, PB; Domingues, W; Talisa, VB; Bartl-Pokorny, KD; Wolin, T; Sigafoos, J.
Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.
J Dev Phys Disabil. 2014; 26(2):171-182 Doi: 10.1007/s10882-013-9351-3 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Einspieler Christa
Marschik Peter
Co-Autor*innen der Med Uni Graz
Bartl-Pokorny Katrin Daniela
Wolin Thomas

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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. 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.

Find related publications in this database (Keywords)
Rett syndrome
Early symptoms
Family videos
Retrospective video analysis
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