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Rett's syndrome: progression of symptoms from infancy to childhood
Insights
Rett's syndrome involves regression of neurological function in girls after normal early development. Symptoms include loss of motor skills, autistic traits, breathing issues, and seizures, with normal bloodwork suggesting metabolic interference.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Rett's syndrome is a rare neurodevelopmental disorder affecting primarily girls.
- Characterized by initial normal development followed by regression.
Purpose of the Study:
- To present findings from seven confirmed and two suspected cases of Rett's syndrome.
- To detail the clinical progression and characteristics of the syndrome.
Main Methods:
- Clinical observation and case study analysis of nine pediatric patients.
- Neurological and developmental assessment.
Main Results:
- All patients exhibited regression of higher cortical function between 7-20 months.
- Key features included loss of motor skills, autistic behaviors, abnormal respiration, ataxia, seizures, and increased muscle tone.
- Standard blood chemistries, including ammonia levels, were within normal limits.
Conclusions:
- Rett's syndrome presents with a distinct pattern of neurodevelopmental regression.
- Normal metabolic markers suggest potential underlying genetic or metabolic interference as a cause.
Abstract:
The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was a loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome.