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A Familiarization Protocol Facilitates the Participation of Children with ASD in Electrophysiological Research
Published on: July 31, 2017
Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?
Shafali Spurling Jeste1, Roberto Tuchman2
1UCLA David Geffen School of Medicine, University of California, Los Angeles, CA, USA SJeste@mednet.ucla.edu.
Insights
Autism spectrum disorder and epilepsy frequently co-occur. This review explores their relationship, focusing on clinical features, genetic links, and using electrophysiology for better patient stratification and intervention targets.
Area of Science:
- Neuroscience
- Genetics
- Clinical Medicine
Background:
- Autism spectrum disorder (ASD) and epilepsy are highly comorbid conditions.
- Understanding the interplay between ASD, epilepsy, and intellectual disability is crucial.
- Existing research presents unresolved questions regarding their temporal relationship and causal mechanisms.
Purpose of the Study:
- To review unresolved questions concerning the temporal relationship, causal mechanisms, and clinical stratification of ASD-epilepsy comorbidity.
- To highlight the interplay between ASD, epilepsy, and intellectual disability.
- To explore the utility of electrophysiology as a biomarker for clinical stratification and outcome prediction.
Main Methods:
- Review of existing literature on ASD and epilepsy comorbidity.
- Clinical characterization of children with ASD and epilepsy.
- Analysis of genetic variants associated with synaptic dysfunction.
- Evaluation of electrophysiology as a quantitative biomarker.
Main Results:
- Distinctive clinical phenotypes emerge in children with comorbid ASD and epilepsy.
- Convergent genetic pathways involving synaptic dysfunction are identified.
- Electrophysiological patterns may aid in defining biologically relevant subgroups within ASD.
Conclusions:
- The comorbidity of ASD and epilepsy offers insights into shared etiological pathways.
- Electrophysiology shows promise as a biomarker for stratifying patients and predicting outcomes.
- Identifying distinct subgroups can guide the development of targeted interventions for ASD-epilepsy.
Abstract:
Autism spectrum disorders and epilepsy commonly co-occur. In this review, we consider some unresolved questions regarding the temporal relationship, causal mechanisms, and clinical stratification of this comorbidity, highlighting throughout the interplay between autism spectrum disorder, epilepsy, and intellectual disability. We present data on the clinical characterization of children with autism spectrum disorder and epilepsy, discussing distinctive phenotypes in children with this comorbidity. Although some distinctive clinical features emerge, this comorbidity also informs convergent pathways in genetic variants that cause synaptic dysfunction. We then move beyond diagnostic categorization and consider the extent to which electrophysiology as a quantitative biomarker may help guide efforts in clinical stratification and outcome prediction. Epilepsy, and atypical electrophysiological patterns, in autism spectrum disorder may inform the definition of biologically meaningful subgroups within the spectrum that, in turn, can shed light on potential targets for intervention.
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