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Breakthrough Treatment Discovered for Those with Autism and Epilepsy

Natalie Frank has a Ph.D. in Clinical psychology. She specializes in Pediatric Psychology and Behavioral Medicine.

New Discovery Could Lead to a Treatment for Co-Occurring Autism and Epilepsy.

  • Although earlier studies suggested lower rates, this new study shows as many as 30 to 50 percent of children who are born with autism also have epilepsy.
  • No only does epilepsy often occur in children with autism but those with epilepsy also frequently develop autistic traits suggesting a common causal pathway.
  • Researchers have discovered a protein that has a calming effect on overstimulated brain cells.
  • Children with autism have abnormally low levels of this protein which may contribute to seizures.
  • This research may lead to a new treatment that involves injecting the protein into the cerebrospinal fluid of children with autism.

Many children who have autism also suffer from epilepsy. A new study published in the Neuron Journal discusses the discovery of a protein in the brain that appears to calm overactive brain cells. Children who suffer from epilepsy and autism have been found to have low levels of this protein in their brains.

The Relationship Between Autism and Epilepsy

It has been established that autism and epilepsy co-occur fairly frequently. A meta-analysis examined the prevalence of epilepsy in those whose primary diagnosis was autism, and autism in those whose primary diagnosis was epilepsy. It included 74 studies which examined almost 300,000 patients.

Results indicated that the prevalence of autism in those with epilepsy was 9.0 percent while the prevalence of epilepsy in those with autism was 12.1 percent. There was a gender effect showing that the rate of epilepsy in those with autism was higher for males while the rate of autism in those with epilepsy was higher in females.

In a more recent meta-analysis, researchers found that about 10 percent of those with autism also had epilepsy. Results suggested that rates were higher in clinical settings, females, patients with cognitive disabilities, adolescents and adults and lower in countries with a high human development index rank.

New Research on a Neural Protein

Researchers at Northwestern Medicine have discovered a protein in the brain that serves to calm overactive brain cells found in children with both autism and epilepsy. Children with both disorders have abnormally low levels of this protein in their brains. According to these researchers 30 to 50 percent of children who are born with autism also have epilepsy.

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The study was published in Neuron.

Because the protein can be identified in the cerebrospinal fluid, scientists believe it is a promising marker for diagnosing autism and possibly treating epilepsy when it coincides with the disorder. Being able to obtain samples of cerebrospinal fluid also makes it possible to detect when the gene is mutated. The levels of the protein found in the spinal fluid can be used to determine the levels in the brain.

This protein, called CNTNAP2, is produced when brain cells become hyperactive to quiet the cells. As children with autism and epilepsy don’t produce enough of this protein, their brains fail to calm down when the neuronal cells become over excited, leading to seizures.

The researchers who conducted this study hope that the findings will lead to new treatments for autism.

The director of the Center for Autism and Neurodevelopment at Northwestern University Feinberg School of Medicine and lead study author, Peter Penzes said, "We can replace CNTNAP2. We can make it in a test tube and should be able to inject it into children's spinal fluid, which will go back into their brain.”

Penzes and his team are currently working on a technique to accomplish this goal in preclinical research.


This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2021 Natalie Frank

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