Related Experiment Videos
Rett syndrome: clinical profile and EEG abnormalities
H H Ho1, P K Wong, R Robertson
1Department of Pediatrics, University of British Columbia, Children's Hospital, Canada.
Summary
Rett Syndrome presents with motor and behavioral issues, distinct from autism. Electroencephalogram (EEG) findings show progressive deterioration and specific brain activity patterns in affected individuals.
Area of Science:
- Neurology
- Developmental Pediatrics
- Clinical Genetics
Background:
- Rett Syndrome shares superficial similarities with infantile autism, necessitating clear differentiation.
- Understanding the distinct clinical and electrophysiological profiles is crucial for accurate diagnosis.
Purpose of the Study:
- To delineate the clinical and electrophysiological characteristics of Rett Syndrome.
- To differentiate Rett Syndrome from autism spectrum disorder based on objective findings.
Main Methods:
- Clinical review of 7 children and 4 adults diagnosed with Rett Syndrome.
- Analysis of electroencephalogram (EEG) patterns, including background activity and spike discharges.
- Biochemical analyses of amino acids and biogenic amine metabolites.
Main Results:
- No abnormalities were detected in amino acid or biogenic amine metabolite analyses.
- EEG revealed chronological deterioration, with a distinct waking/sleep contrast pattern emerging after age 5.
- A high incidence of central (Rolandic) region spike discharges was observed.
Conclusions:
- Rett Syndrome exhibits a unique electrophysiological progression not seen in autism.
- EEG findings are critical for distinguishing Rett Syndrome from autism.
- Biochemical markers were not found to be indicative in this study.