EEG endophenotypes in autism spectrum disorder

Area of Science:

• Neuroscience
• Developmental Pediatrics
• Child Neurology

Background:

• Autism spectrum disorder (ASD) is frequently associated with epilepsy.
• Abnormal electroencephalography (EEG) findings are observed in individuals with ASD, even without a history of seizures.
• The relationship between EEG abnormalities and core ASD features requires further investigation.

Purpose of the Study:

• To investigate the association between epilepsy and/or abnormal EEG results and impairments in young children with ASD.
• To determine how EEG abnormalities correlate with developmental, adaptive, and behavioral outcomes in children with ASD.

Main Methods:

• Retrospective analysis of medical records from Cincinnati Children's Hospital Medical Center for 443 children with ASD.
• Patients were categorized into three groups: ASD with epilepsy, ASD without epilepsy but with abnormal EEG, and ASD without epilepsy and normal EEG.
• Developmental, adaptive, behavioral, and language assessments were collected, alongside EEG data, medical history, and comorbidities.

Main Results:

• 15.8% of children with ASD had epilepsy; 25.5% of those without epilepsy had abnormal EEG results (predominantly epileptiform and focal).
• Children with abnormal EEG results showed more impaired adaptive functioning compared to those with normal EEG (p < 0.05).
• Children with epilepsy had significantly lower developmental and adaptive functioning scores than those with normal EEG (p < 0.05).

Conclusions:

• Abnormal EEG results or epilepsy in children with ASD are associated with worse developmental and adaptive outcomes.
• Further research is needed to understand these associations and inform treatment strategies for children with ASD and abnormal EEG findings but no epilepsy.