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

Content Provider	Springer Nature Link
Author	Einspieler, Christa Marschik, Peter B. Domingues, Wanderley Talisa, Victor B. Bartl Pokorny, Katrin D. Wolin, Thomas Sigafoos, Jeff
Copyright Year	2013
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.
Starting Page	171
Ending Page	182
Page Count	12
File Format	PDF
ISSN	1056263X
Journal	Journal of Developmental and Physical Disabilities
Volume Number	26
Issue Number	2
e-ISSN	15733580
Language	English
Publisher	Springer US
Publisher Date	2013-07-28
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Rett syndrome Early symptoms Family videos Retrospective video analysis Child and School Psychology Public Health Pediatrics
Content Type	Text
Resource Type	Article
Subject	Developmental and Educational Psychology Physical Therapy, Sports Therapy and Rehabilitation

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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