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Biomarker Discovery Could Treat Children with Autism and Epilepsy

December 21, 2021


A groundbreaking biomarker discovery from scientists at Northwestern University could lead to new treatment for children with autism and epilepsy.

Biomarker Discovery Could Treat Children with Autism and Epilepsy https://www.autismparentingmagazine.com/biomarker-discovery-treatment-children-epilepsy

Researchers have identified a biomarker for autism within patients’ cerebrospinal fluid (CSF). This biomarker helps establish a link between autism and epilepsy, conditions which often co-occur, and could be used in future treatment methods. 

Epilepsy is particularly common in patients whose autism is linked to mutations in the gene CNTNAP2. This gene normally creates a cellular adhesion protein which helps neurons connect to one another, but loss-of-function mutations have been associated with both autism and epilepsy.

In the new study which is published in the Neuron journal, scientists analyzed CSF from people with autism and healthy controls, finding that patients who were on the autism spectrum had fewer molecules of CNTNAP2 floating freely in the CSF.

When CNTNAP2 is freely floating, it functions more like a hormone than a cellular glue, binding to neurons and reducing excitatory neurotransmissions. Therefore, CNTNAP2 may play a role as a regulator of excitatory activity.

First report of biomarker for autism in cerebrospinal fluid

“This is the first report of a biomarker for autism in cerebrospinal fluid…There’s too much excitation and too little inhibition in the brain, which can impact both autism and epilepsy,” said Professor Peter Penzes, PhD, who is senior author of the study.


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“When the brain is getting too excited, CNTNAP2 gets broken off and attaches to brain cells as a sort of feedback switch. If you don’t have CNTNAP2, there’s hyper-connectivity between neurons which can contribute to autism, and there’s excessive excitation of neurons which can lead to seizures,” he added. 

“Measures for behavioral health in people with autism could be very subjective, but if we can actually measure levels of CNTNAP2 and correlate that with how well a treatment is working, that could really improve implementation.”

Further biomarkers and therapy possibilities

CNTNAP2’s role in regulating excitation was previously unknown, and this points to a possible future therapy in which CNTNAP2 could be administered to patients to replace that which their bodies’ cannot produce. 

Professor Penzes said he and his collaborators discovered other autism-associated biomarkers in CSF, and studying those will be a priority moving forward.

Autism Parenting Magazine responds to study

“This breakthrough is positive news for the autism community. We often hear from parents of children on the spectrum whose kids experience severe seizures, which in some cases prove to be life-threatening or debilitating,” said Emily Ansell Elfer, Editor of Autism Parenting Magazine.

“More research is needed before treatment options can be explored, but if CNTNAP2 could restore some balance in these individuals’ bodies and reduce seizures, we could be seeing some really positive changes to our readers’ quality of life. We will watch with interest.”

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