(1) University Hospital of Siena, Siena, Italy
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The association between Autism Spectrum Disorders (ASD) and epilepsy has been extensively documented and the estimated prevalence varies, depending upon the selected population and the clinical characteristics. Children with early-onset epilepsy and early brain damage have a higher risk of presenting ASD compared to those without epilepsy. Genetic abnormalities are likely implicated in the association of ASD and epilepsy, although these abnormalities are currently detectable in only a small percentage of patients. Copy number variants (CNVs) with a low rate of occurrence (so-called rare variants) have been found to be implicated in these conditions as well. Furthermore, some genetic and medical conditions are associated with ASD and epilepsy. Currently the co-occurrence of autism and epilepsy is conceptualized as the result of common abnormal neurodevelopmental pathways. Synaptic dysfunction is likely to be involved in both disorders, as observed in preclinical models. There is no specificity of seizure type to be expected in children and adolescents with ASD compared to other neurodevelopmental disorders or epileptic syndromes. Treatment options include developmentally-based early interventions for ASD and medications for epilepsy. The aim of this article is to provide a brief overview of current research on the association of autism with epilepsy, from molecular basis to clinical characteristics.
Common neurodevelopmental pathways are probably at play in the association of autism with epilepsy. Synaptic abnormalities and genetic variations have been shown to be implicated in this complex condition.