On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published. The press release can be found here. In it, the researchers found even more genes of interest to autism. Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms. But of course, the story gets more complicated than just more mutations – worse behavior. An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different. This shows that adaptive behavior and IQ are important to consider when considering how genetics influence autism symptoms. Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism. Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals. It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.
Last month, UC Davis researcher Cyndi Schumann used resources for the Autism BrainNet to look at what causes differences in the rates of diagnosis between males and females. Consistent with other studies on this topic, males and females don’t show differences in the rates of autism genes, but rather in the way that the brain controls other genes that code for things like neuroinflammation and development. Clearly more studies are necessary but it is consistent with the Female Protective Effect in autism. The full text can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294827/
And also, there was a study on genital herpes and autism that CNN got totally wrong.
The year 2016 was eventful for many reasons. In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD. Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling” This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome. It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD. We hope you find it informative – please send comments to firstname.lastname@example.org
On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism. It covers genetics, neuropathology and immunology. It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director. Please click above to watch the 45 minute presentation and questions from the audience. Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org.
A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile. But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism. This may put it into the category of the rare mutations that have a major contribution to autism symptoms. In addition to autism, mutations of these gene are associated with seizures and epilepsy. Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation. This week’s podcast includes a message from one of the leaders of this foundation: FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.
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 I am in Minneapolis at an incredibly important meeting of Medical Examiners to pitch them the importance of collecting brain tissue for Autism BrainNet. While I was here I noticed a new study on the blogs that is important for families to hear about. It focused on a known environmental exposure in established genetic groups. The authors of the study, led by Dr. Sara Webb at University of Washington, showed that an environmental exposure can modify symptoms in genetically susceptible narrow subgroups. This is the sort of research that will better describe how environmental exposures are affecting autism risk. Thank you to Dr. Sara Webb for your perspectives and interpretation of the data!
This week is a more philosophical, ideological discussion of the origins of social behaviors inspired by review articles written by Mayada Elsabbagh at McGill University and Boaz Barak and Guoping Feng at MIT. The focus of these papers are: when social behaviors emerge, and what brain regions are responsible for their existence. While Dr. Elsabbagh thinks of the question in terms of when behaviors and symptoms emerge in infancy, Drs. Barak and Feng consider the issue by comparing autism to Williams Syndrome. Williams Syndrome is very similar to autism except people with WS are hyper social and empathetic and sometimes gregarious. One tiny change on one area of one gene makes all the difference. This podcast doesn’t settle the question, but hopefully shows you listeners why there is a debate and how it is important for people with autism.
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.