Abstract
Autism spectrum disorder (ASD) is characterized by deficits in social communication
and interaction in various contexts, along with restrictive and repetitive behaviors.
Individuals with ASD often have cooccurring neurodevelopmental, neuropsychiatric,
and neurological disorders. The prevalence of epilepsy in ASD ranges from 2 to 60%.
The notable association between autism and epilepsy highlight the shared neurobiological
features in both conditions that include synaptic dysfunction, abnormalities in cell
signalling and proliferation, chromatin modification and transcription, and an imbalance
between excitation and inhibition. Recent advances in next-generation sequencing techniques
have revealed similar etiological and molecular mechanisms underlying autism and epilepsy
through the identification of various genes linked to their pathophysiological processes.
Older age, female sex, the presence of intellectual disability, developmental delay,
and severe symptoms of autism are risk factors for epilepsy reported in autistic individuals.
In this review, we will focus on the underlying molecular mechanisms, clinical characteristics,
predictive factors for developing epilepsy in autism, and the common genetic disorders
associated with the ASD-epilepsy phenotype.
Key Points
The prevalence of epilepsy in ASD ranges from 2 to 60%.
Shared pathobiology in ASD and epilepsy involves synaptic dysfunction, abnormalities
in cell signalling and proliferation, chromatin modification and transcription, and
excitation and inhibition imbalance.
Older age, female sex, the presence of intellectual disabilities, developmental delays,
and severe symptoms of autism are risk factors for epilepsy in individuals with autism.
Keywords autism - epilepsy - autism spectrum disorder - genetic - pathophysiology - ASD-epilepsy
phenotype
