Related Experiment Videos
The Rett girls with preserved speech.
1Department of Child Neurology and Psychiatry, Regional Hospital, Siena, Italy.
Brain & Development
|March 1, 1992
Summary
Researchers identified three girls with atypical Rett syndrome, exhibiting typical symptoms alongside the unusual ability to speak in full phrases. This finding suggests a potential new variant of this neurodevelopmental disorder.
Area of Science:
- Neurodevelopmental disorders
- Genetics and rare diseases
Background:
- Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
- Classic Rett syndrome is characterized by specific developmental patterns and loss of acquired skills.
Observation:
- Three girls presented with features overlapping classic Rett syndrome, including stereotypic hand movements.
- These individuals also displayed atypical characteristics, most notably the ability to communicate using fully formed phrases.
Findings:
- The presence of speech in these cases challenges the traditional understanding of Rett syndrome.
- One patient has a sibling with classic Rett syndrome, indicating possible genetic links.
Implications:
- This study raises the possibility of a novel 'speaking' variant of Rett syndrome.
- Further research is needed to understand the genetic and clinical spectrum of atypical Rett syndrome.