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!

 

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”.

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:

 

In honor of President’s Day in the United States, today’s podcast is a summary of a few more recent studies on employment of people with autism spectrum disorder.  In addition to identifying challenges between the perspectives between employees and employers on the purpose of job supports, new methods to increase and maintain employment of people with ASD are reviewed.  They include supportive employment environments and self-instruction.  Both could be cost-effective in the long run.  These studies add to an ever emerging literature on employment strategies in people with autism, and hopefully there will be more on this topic in the future.

Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces.  This is in stark contrast to findings in boys.  Together with other data, the authors conclude that this early social behavior may mitigate, or protect against, the symptoms of ASD later on in life.

In the second half of the podcast, the new supplement to the journal Pediatrics is summarized, which includes important new guidelines and recommendations that affect people with autism.  As promised, here is the link so you can see for yourself.

 

 

 

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.

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.

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.

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.

Over the holidays, new studies around early (before age 5 years) intervention were published that generated excitement in the autism community.  First, a new parent-mediated intervention called the “Social ABC’s” showed promising results.  Another intervention showed promise in south Asia, indicating that the success of parent-mediated interventions are not specific to North American countries.  Finally, data shows that most children are not having to wait for an ASD diagnosis before they receive these early intervention services.  They may not be perfect, but they are something, and this is progress.