Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders
Kimberly Goodspeed1,2,3, Dallas Armstrong1,2, Alison Dolce1,2
1Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Electroencephalography (EEG) shows promise as a biomarker for rare genetic neurodevelopmental disorders. Quantitative EEG analysis in Angelman, Rett, and fragile X syndromes reveals distinct patterns correlating with disease severity, aiding biomarker development.
Area of Science:
- Neuroscience
- Genetics
- Biomarker Development
Background:
- Neurodevelopmental disorders are common, with over a third having a genetic cause, though individually rare.
- Limited clinical outcome assessments and biomarkers hinder treatment development for these conditions.
- Electroencephalography (EEG) is a noninvasive tool with potential as a brain function biomarker, but its use in neurodevelopmental disorders requires more research.
Approach:
- This review examines EEG applications in three prevalent genetic neurodevelopmental disorders: Angelman syndrome, Rett syndrome, and fragile X syndrome.
- Quantitative EEG analyses, including power spectral analysis and connectivity measures, are explored for their ability to objectify EEG signatures.
- The potential for these quantitative EEG metrics to correlate with clinical phenotypes is investigated.
Key Points:
- In Angelman and Rett syndromes, increased delta power on spectral analysis correlates with disease severity markers like developmental disability and seizures.
- EEG spectral power analysis in fragile X syndrome typically shows abnormalities in gamma power.
- Quantitative EEG analysis offers a method to objectively measure EEG patterns and their relationship to clinical features.
Conclusions:
- EEG is a promising noninvasive biomarker for neurodevelopmental disorders.
- Quantitative EEG analysis reveals distinct spectral power abnormalities in Angelman, Rett, and fragile X syndromes.
- Further research is essential to solidify the relationship between quantitative EEG biomarkers and clinical phenotypes in rare genetic neurodevelopmental disorders.
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