Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
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
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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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- Abstract:
- 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