Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders
Study by Beliz Su Gundogdu, John Gaitanis, James B. Adams, Daniel A. Rossignol and Richard E. Frye
New published paper on seizures in autism provides insight into seizure characteristics and how they affect which seizure treatments are best for different people.
Abstract
Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis were collected from individuals with ASD and seizures. We previously reported overall general patterns of treatment effectiveness but did not examine the effect of seizure characteristics or age on antiepileptic treatment effectiveness. Such information would improve the personalised medicine approach to the treatment of seizures in ASD. Survey data from 570 individuals with ASD and clinical seizures were analysed. Seizure severity (seizure/week) decreased with age of onset of seizures, plateauing in adolescence, with a greater reduction in generalised tonic–clonic (GTC) seizures with age. Seizure severity was worse in those with genetic disorders, neurodevelopmental regression (NDR) and poor sleep maintenance. Carbamazepine and oxcarbazepine were reported to be more effective when seizures started in later childhood, while surgery and the Atkins/modified Atkins Diet (A/MAD) were reported to be more effective when seizures started early in life. A/MAD and the ketogenic diet were reported to be more effective in those with NDR. Interestingly, atypical Landau–Kleffner syndrome was associated with mitochondrial dysfunction and NDR, suggesting a novel syndrome. These interesting findings need to be verified in independent, prospectively collected cohorts, but nonetheless, these data provide insights into novel relationships that may assist in a better understanding of epilepsy in ASD and provide insight into personalising epilepsy care in ASD.
Important to note:
5% of children with ASD have mitochondrial disease, and 30% or more exhibit mitochondrial dysfunction (MD) while cerebral folate deficiency (CFD) is estimated to occur in 38% of those with ASD, with 75% of these demonstrating epilepsy. Additionally, many genetic syndromes associated with ASD are also associated with epilepsy especially those genetic syndromes where gene variants affect synaptic plasticity, ion channels, neurotransmitter receptors and synaptic structure and function. There is also evidence that seizure characteristics are associated with ASD characteristics.
Dr. Richard Frye and Prof. James Adams from USA lead study on seizures in autism.
