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Changing the perspective on early development of Rett syndrome
Peter B Marschik1, Walter E Kaufmann, Jeff Sigafoos
1Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA.
Research in Developmental Disabilities
|February 13, 2013
Summary
Early speech-language development in Rett syndrome (MECP2 positive) is atypical, not normal, before regression. This finding suggests a new understanding of Rett syndrome pathogenesis and potential early detection methods.
Area of Science:
- Pediatric neurology
- Developmental neuroscience
- Genetics
Background:
- Rett syndrome is a neurodevelopmental disorder primarily affecting girls.
- The MECP2 gene mutation is the main cause.
- Early development is often considered normal before a regression period.
Purpose of the Study:
- To investigate early speech-language development in infants with Rett syndrome.
- To challenge the concept of a normal pre-regression period.
- To explore implications for early detection and understanding pathogenesis.
Main Methods:
- Retrospective video analysis of 15 children with MECP2-positive Rett syndrome.
- Focus on the first two years of life.
- Assessment of speech-language milestones.
Main Results:
- Markedly atypical speech-language development was observed in the first two years.
- Developmental patterns differed significantly from typical milestones.
- Findings contradict the notion of a normal pre-regression phase.
Conclusions:
- Early speech-language delays are characteristic of Rett syndrome from infancy.
- This suggests a revised understanding of Rett syndrome's developmental trajectory.
- Atypical early development may offer a window for early diagnosis.
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