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Speech and motor disturbances in Rett syndrome
V M Bashina1, N V Simashkova, V V Grachev
1Scientific Center for Mental Health, Russian Academy of Medical Sciences, Moscow.
Neuroscience and Behavioral Physiology
|September 24, 2002
Summary
Rett syndrome impacts speech and motor skills in girls. EEG studies reveal a stepwise progression of brain involvement, correlating with functional decline.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Rett syndrome is a severe genetic disorder affecting early childhood development in girls.
- Key manifestations include significant impairments in speech (expressive and receptive) and motor functions (apraxia, ataxia-apraxia).
- Variability exists in the severity of motor and speech deficits among affected individuals.
Purpose of the Study:
- To longitudinally assess speech and motor function disturbances in Rett syndrome over 2-5 years.
- To analyze the correlations between these speech and motor impairments.
- To investigate the relationship between clinical findings and electroencephalogram (EEG) data.
Main Methods:
- Longitudinal study of 50 girls with Rett syndrome (aged 12 months to 14 years).
- Clinical assessment of speech and motor functions.
- Analysis of electroencephalogram (EEG) traces and correlation with clinical data.
Main Results:
- Stepwise involvement of frontal and parietal-temporal cortical structures observed, followed by subcortical, cerebellar, and spinal cord structures.
- Early impact on organizing speech and motor activity, preceding gnostic function lesions.
- Significant correlation found between motor/speech function severity and EEG patterns (theta, alpha, beta activity).
Conclusions:
- The study supports a progressive, stepwise neuropathological process in Rett syndrome.
- EEG findings correlate with the severity of motor and speech dysfunction.
- Understanding these mechanisms is crucial for potential therapeutic strategies.
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