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Instead of looking at genes associated with the big “autism”, researchers at the University of Miami are considering how genes influence specific autism features present very early on in life. In this week’s podcast, two investigators, Devon Gangi and Nicole McDonald, explore how genetic variants influence behaviors that are not autism, but predictive of autism. Even more intriguing is how these genes regulate the effects of environmental variables on later behavior. While it isn’t autism specifically, this approach may provide a better perspective on all those hundreds of genes associated with an autism diagnosis. Hopefully this will lead to add on therapies to speed up the progress of behavioral interventions.

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We are pleased to present the 2nd environmental epigenetics webinar featuring Dr. Dana Dolinoy of University of Michigan and Dr. Carol Yauk of Carelton University in Canada.  The presentations are entitled “Environmental Exposures and the Germline:  Investigating Causes of Epigenomic and Genomic Errors”.

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On Thursday, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized the 2nd in the series of environmental epigenetic of autism webinars to the community.  Dr. Dana Dolinoy of U. Michigan and Dr. Carol Yauk of Carleton University in Canada provided a summary of recent data that showed how environmental exposures affect not just the offspring, but potentially future generations.  In addition, common exposures may cause mutation in the cells that form sperm and eggs of humans, influencing multiple generations.   This is done through epigenetics or the turning on or turning off of the DNA.  The epigenome has been somewhat the ‘forgotten stepchild’ of human genetics, which is slowly changing.  The full webinar will also be posted on asfpodcast.org but in case you don’t have time for the whole 2 hours, this is a 10 minute summary. Finally, hear what we really think about the USPSTF statement on universal screening.

 

Here is the picture I promised in the podcast!

 

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This week saw two studies advancing a new type of animal model for autism:  the monkey.  Environmental factors had been studied using this model, but this week saw the very first genetic model of autism in a monkey that also demonstrates features of autism.  At the same time, another study published data on a new test to study autism in the monkey, the monkey Social Responsiveness Scale which, when further validated, will help show whether or not this new monkey model of autism symptoms is the real deal.   Can this advance knowledge of the causes like – as we heard this week – obesity and diabetes?  Too early to tell, but it’s two steps in the right direction.

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In 2014, the two categories of autism symptoms were condensed from two to one:  social communication problems.  Understanding that this is now a broader but more accurate domain of symptoms, researchers from Center for Autism and the Developing Brain and UCSF drilled down to distinguish different types of social communication and which were most specific to autism.  Using this approach, these same researchers were able to determine which ones distinguished the social problems in ADHD to those seen in autism.  These results will help clinicians do a better job understanding what are social issues related to other disorders, and which are markers for autism.

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Many people wonder why researchers study recognition of facial expression in people with ASD.  Not only is it a core symptom, it has consequences for daily functioning.  As Matthew Lerner from Stonybrook University explains, it doesn’t “simply” explain everything but it does provide insight into social processes and friendships.  A set of two studies from Dr. Lerner’s lab perfectly demonstrate that while some behaviors may seem far removed from everyday functioning in people with autism, these are important features to better understand so people can not just treat, but understand, the minds of people with ASD.

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Three new studies examine the relationship between prenatal medication exposure and autism.   The results from these studies are not always consistent, suggesting there may be something missing from the study of medication use in pregnancy and risk in the child.  What is lacking in these studies is genetic information.  Without data on the genetics of the mother or the child, researchers are missing opportunities to address more specific research questions.  Clinicians lack data to implement  personalized medicine approaches.  The findings don’t suggest genetic research, they urge that genetics be integrated with environmental exposure information.

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The United States Preventive Services Task Force is a group of physicians that reviews systematic reviews of evidence around screening for prevention of disease like mammograms for cancer and aspirin for heart disease.  Last week they released their recommendations for screening all children in primary care settings for autism spectrum disorders.  Unfortunately, they concluded that there was insufficient evidence to make any sort of recommendation and needed to see more direct evidence.  In a statement by ASF, Autism Speaks and AAP, each organization has outlined why they disagree.  In this week’s podcast, I will try and break down where the USPSTF is coming from, why they are wrong in their interpretation, and point to a recent study led by Dr. Laura Schreibman at UCSD which argues that the differences noted across studies evaluated by the task force are not differences at all, that the interventions are more common than previously considered – and consistent in their findings.   This article, by the way, is a great resource and can be found here:  http://link.springer.com/article/10.1007/s10803-015-2407-8

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One way to identify which treatments will help which people is to studying them in people with autism and known genetic causes.  This week, I traveled to the Dup15 meeting in Orlando, Florida to participate in a science discussion around how researchers are learning about individuals with this mutation and autism to understand their particular features so more personalized interventions can be delivered.  This includes epilepsy, sleep issues, and behavioral interventions.   I was honored to be a part of the parade at the meeting, and here some some images of these amazing families.  

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This week saw the publication of a remarkable new study that took skin cells and turned them into brain cells.  No joke.  This technique allows researchers to study the autism brain during very early development. But it isn’t sufficient to study and understand the brains across the lifespan of people with autism.  The only way to do that is with postmortem brains of people with ASD.   Because of this resource, researchers discovered a new type of genetic mutation associated with ASD – one that redefines how scientists view all of the DNA.  TO REGISTER FOR THE AUTISM BRAINNET GO TO WWW.TAKESBRAINS.ORG.  Also this week, beyond genetics and brain tissue research, a meeting in California applied a technique to the air pollution and autism data to understand and make sense of the multiple studies showing an association.