Brain pathway link found between autism and epilepsy, according to research conducted by a team at Stanford on mice.

In a groundbreaking study published in the journal Science Advances, researchers at Stanford Medicine have identified the reticular thalamic nucleus (RTN) as a potential target for autism treatment. The study, led by Sung-Soo Jang, a postdoctoral scholar in the Department of Neurology and Neurological Sciences at Stanford Medicine, sheds new light on the connection between autism and epilepsy.

The study focused on a mouse model lacking the Cntnap2 gene, which is often associated with autism. Mice engineered to model autism and have heightened activity in the RTN displayed traits often linked to autism, such as repetitive behaviors, heightened sensitivity, reduced social interaction, increased motor activity, and greater seizure susceptibility.

The RTN, a brain region that filters sensory information between the thalamus and cortex, had not been directly tied to autism before. The researchers found that the RTN spiked during bursts of spontaneous activity, triggering seizures in the mice. Moreover, the RTN also showed increased activity when animals faced stimuli such as light flashes or air puffs, and during social encounters.

To suppress the hyperactivity in the RTN, the researchers used DREADD-based neuromodulation, a method that genetically alters neurons so they can be controlled by designer drugs. This approach eased autism-like behaviors in the mice. The study suggests that drugs developed for epilepsy may also hold potential for autism treatment.

One such drug, Z944, an experimental seizure drug, was tested and found to dampen RTN overactivity and reverse behavioral deficits in the autism mouse model. This finding provides a clear framework for testing treatments for autism.

John Huguenard, professor of neurology and neurological sciences, served as senior author of the study. The discovery of the RTN's role in autism overlaps with epilepsy research, strengthening the connection between autism and epilepsy. The study adds to a growing understanding of how disrupted brain circuits shape neurodevelopmental disorders.

The authors emphasize that findings in mice do not guarantee the same results in people. However, the study provides valuable insights that could pave the way for future research in human autism treatment. The potential of targeting the RTN as a therapeutic approach for autism is an exciting development in the field of neuroscience.

Brain pathway link found between autism and epilepsy, according to research conducted by a team at Stanford on mice.