“Neurodevelopmental disorders travel together… We don’t know why.”
When he was mentoring residents in our Pediatric Neurology rotation, that experienced physician had the impression, after observing many children with either a diagnosis of epilepsy or autism, that the pathological processes were in fact related.
A big study of thousands of patients in the Swedish Patients Register found that persons with epilepsy were significantly more likely to have a future diagnosis of “autism spectrum disorder” (ASD) compared to matched controls; they also found that the risk for ASD was very high if epilepsy was diagnosed in childhood. The children of epileptic women were at high risk.
Dr. Sundelin et al. used ICD codes to identify 85,201 people with epilepsy as well as 80,511 siblings and 98,534 offspring of the epilepsy patients. Each patient was compared to five controls, matched for age and sex, while siblings and offspring were matched with siblings and offspring of the controls. They checked which epilepsy patients eventually developed ASD.
A median of 5.5 years passed between a diagnosis of epilepsy to another diagnosis of ASD. In the selected group, 1.6% of patients with epilepsy and 0.2% of controls were eventually diagnosed with ASD Epileptic patients had almost 11 times the risk of developing ASD in the future than the controls. Epileptic patients were 4 times more likely to have a prior ASD diagnosis.
In their report the Swedish scientists wrote that “the most likely explanation of our findings is shared pathophysiological, possibly genetic, mechanisms, some influencing the balance between excitation and inhibition.” They did not collect data on the intellectual disabilities and their medication usage.
Parents of children diagnosed with epilepsy are particularly concerned about any possible risk factor or associated morbid condition in their development. There is a two-way enrichment process in the basic scientific and genetic studies of epilepsy and autism underway at present, as both medical conditions seem to be closely related.
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