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Children with Epilepsy Have High Rate of Undiagnosed Autism, Developmental Delay


Epilepsy is a brain disorder in which a person has repeated seizures over time. These seizures usually begin between the ages of 5 and 20, but they can happen at any age. A new recommendation presented at the American Epilepsy Society’s 65th annual meeting suggests that children who present for treatment at epilepsy clinics should also be screened for autism and developmental delays because a high rate of these children was found to be previously undiagnosed.

An investigative team from the Children’s Memorial Hospital in Chicago conducted a study of children under the age of 5 presenting at an epilepsy monitoring unit (EMU) between November 1, 2010 and May 15, 2011. Parents were asked to complete a developmental screening instrument known as the Ages and Stages Questionnaire, or ASQ.

The team, led by Anne Berg and Breanne Fisher, found that more than 75% of the children screened positive for developmental delay and 41% positive for autism. Although most of the children had previously been diagnosed, more than one third had not. These children were referred to specialists for confirmation of the diagnoses.

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Epilepsy is actually very common in children with autism spectrum disorders (ASD); nearly a third of ASD patients have epileptic seizures. A study published earlier this year from the CHUM Research Centre in Canada found that both conditions share a common gene mutation. The gene, known as SYN1, plays a crucial role in the development of the membrane that surrounds neurotransmitters, also referred to as synaptic vesicles.

Berg and Fisher recommend that patients who present with either new onset or established cases of pediatric epilepsy be screened for developmental delays and autism if they haven’t already.

Sources Include:
American Epilepsy Society
A. Fassio, L. Patry, S. Congia, et al. SYN1 loss-of-function mutations in ASD and partial epilepsy cause impaired synaptic function. Human Molecular Genetics, 2011; DOI:10.1093/hmg/ddr122

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