Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed. On a previous podcast, studies in the way the oxytocin receptor was turned on and off were explained which may account for variability in treatment response. This week, two studies in Japan show that specific mutations in the oxytocin receptor product predict who will respond to oxytocin treatment and who will not. Therefore, the oxytocin story is one of the first examples of using genetic findings to push better treatment on an individual level, otherwise known as precision medicine.
On October 14th, the Autism BrainNet hosted it’s first webinar around how brain tissue findings affect people with autism. First, Shafali Jeste, MD, from UCLA explained what seizures were, how prevalent they were in people with autism, and what the risk factors for them were in ASD. Next, David Menassa from Oxford University described recent findings in brain tissue which showed how glia cells, or the cells of the brain that support neurons, are affected in ASD and how epilepsy affects these changes. The introduction of the webinar is missing but only for a few seconds. Thank you to Drs. Jeste and Menassa for participating in such a great informational event and for everyone that registered.
This week’s podcast is inspired by a new study in PNAS thatlooked at the role of methylation of the oxytocin receptor in social behavior in people without autism. Together with studies of the brains of people with autism, it suggests that filling the brains with oxytocin may not be the best approach for treating social impairments. Instead, compounds that turn on or turn off the genes that control oxytocin may be more appropriate, and it also may help explain variability in why some people respond to oxytocin treatment, and why others do not. Also, scientific technology has a new way of studying the influence of the environment on brain development.
This was a very genetics-centric week because of two exciting new publications that focused on genetic risk factors. In the first, Dr. William Brandler at UCSD demonstrates that mutations in autism risk genes come in all sorts of different forms, but they must be in the right genes to lead to a diagnosis. Just having different mutations is not enough. Also, in an intriguing analysis led by Dr. Elise Robinson at the Broad Institute (and also summarized on SpectrumNews), she looked at these autism risk genes in people without autism and found that we all have them. Reiterating what Dr. Brandler found, she showed that the spectrum of autism genetics may be broader than the spectrum of an autism diagnosis. It may explain symptoms of autism without a diagnosis in family members as well.
On Friday, February 19, the NIH organized a workshop on regression in autism. It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome. Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation. Because the genetic mutation is know, researchers have been able to make huge advancements in the study of the cellular causes of regression. Do they apply to autism? The theory of overturning is presented and discussed in the workshop and on the podcast. You can see the full agenda at: https://iacc.hhs.gov/non-iacc-events/2016/loss-of-skill-agenda-february19.shtml
Here are some screen shots of the workshop: