ArticleAnnals of the Child Neurology Society2025
Deep Phenotyping of the Broader Autism Phenotype in Epilepsy: A Transdiagnostic Marker of Epilepsy and Autism Spectrum Disorder.
Article in Annals of the Child Neurology Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: We conducted deep and minimal phenotyping of the broader autism phenotype (BAP) in people with epilepsy (PWE) and compared its expression with published rates in the general population and relatives of individuals with autism spectrum disorder (ASD-relatives). We then examined the association of clinical epilepsy variables with BAP expression to explore its underpinnings in PWE. Methods: 103 adults with seizures ( Results: There was a higher rate of BAP in PWE (15% males, 27% females) compared with the general population (5% males, 7% females) and a similar rate to ASD-relatives (9% males, 20% females). Deep phenotyping identified an additional 22 males and 10 females, with the combined measures indicating elevated rates of the BAP in PWE (44% males, 36% females). Only a shorter duration of epilepsy was weakly correlated with BAP trait expression in males ( Interpretation: PWE have a high rate of BAP, largely unrelated to secondary clinical epilepsy effects. The BAP may provide a trans-diagnostic marker of shared etiological mechanisms of epilepsy and ASD and partly account for psychosocial difficulties faced by PWE with childhood or adult onset of seizures.
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