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Rett syndrome: a review of current knowledge.
1University of Illinois, College of Education, Chicago 60680.
Journal of Autism and Developmental Disorders
|December 1, 1991
Summary
Rett syndrome is a rare neurodevelopmental disorder affecting females, characterized by developmental regression and loss of skills after infancy. Increased awareness is crucial for diagnosis and management of this condition.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Rett syndrome is a rare genetic disorder primarily affecting females.
- It is characterized by normal early development followed by regression in motor and cognitive skills.
- Stereotypic hand movements are a hallmark symptom of Rett syndrome.
Purpose of the Study:
- To review current knowledge on Rett syndrome.
- To provide information on clinical manifestations, etiology, prevalence, pathogenesis, and treatment.
- To highlight the importance of awareness for diagnosis.
Main Methods:
- Literature review of existing research on Rett syndrome.
- Synthesis of information on clinical features, genetic causes, and epidemiological data.
- Discussion of current understanding of disease mechanisms and therapeutic approaches.
Main Results:
- Rett syndrome affects approximately 10,000 girls in the US, but fewer than 1,200 are identified.
- A significant lack of awareness contributes to underdiagnosis.
- The review consolidates information on the syndrome's multifaceted aspects.
Conclusions:
- Rett syndrome requires greater clinical recognition for timely diagnosis.
- Further research is needed to improve understanding and treatment.
- Comprehensive knowledge dissemination is vital for affected individuals and families.