학술논문

Autism Spectrum Disorder and Epilepsy
Document Type
article
Source
Journal of Child Neurology. 30(14)
Subject
Neurodegenerative
Epilepsy
Brain Disorders
Autism
Pediatric
Neurosciences
Mental Health
Intellectual and Developmental Disabilities (IDD)
2.1 Biological and endogenous factors
4.1 Discovery and preclinical testing of markers and technologies
Detection
screening and diagnosis
4.2 Evaluation of markers and technologies
Aetiology
Neurological
Mental health
Autism Spectrum Disorder
Brain
Humans
Intellectual Disability
Risk
autism spectrum disorder
electroencephalography
epilepsy
intellectual disability
biomarkers
Clinical Sciences
Cognitive Sciences
Neurology & Neurosurgery
Language
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.