Autism Science Foundation Weekly Science Report

Welcome to a very special podcast – the IMFAR 2016 edition with highlights from this year’s International Meeting for Autism Research in Baltimore, Maryland. As you may notice, my voice is different. I was talking so much that I actually developed laryngitis. I’m not proud of myself for talking so much at a meeting where I should have been listening, but I will make sure the text is somewhere on the web so you can read it.

This year, ASF got a lot of help in reporting the findings back to you from our IMFAR travel grantees. ASF provides scholarships for families, students and people with autism to attend IMFAR. They attended the sessions they were interested in, and were nice enough to report back on what they learned. We will be including their reports here.

The meeting started with an IMFAR preconference organized by Dr. Becky Landa at KKI and hosted by Towson University. Next year when the meeting is in San Francisco, and if you live in the Bay Area you should try to attend. The topics covered included: behavioral interventions, feeding issues, medical comorbidities in people with autism and sensory problems. It included the most recent findings by some of the most respected scientists and highlighted applicable findings for parents and teachers. We heard Dr. Peter Gerhardt talk about how people with autism don’t need a community – they need communities. That can be the communities of the grocery store, the bus route, the library, as well as family and clinical communities. But it isn’t just one.

While just about every topic under the spectrum was covered at IMFAR, I can’t remember a meeting that highlighted gene/environment interactions as much. Irva Hertz-Picciotto, an investigator who launched one of the very first studies on the environmental factors in autism for most cases of autism, gave one of the keynotes. She emphasized that the word “causes” in most cases is not scientifically accurate. In fact, the causes are actually a mix of multiple genetic factors and multiple environmental risk factors. And while her examples of environment included toxic chemicals, it’s important to think of environment as the whole of “non-genetic” factors. This can be psychological factors, medical, pharmacological and sociological. There is no single environmental cause, and most cases of autism are not caused by one single genetic cause either (but sometimes they are and I’ll get to that later). People trying to understand the research should know that just because an environmental factor is involved in the causes of autism, that is completely different than the causes of the rises of prevalence. So when you see a graph showing an increase in prevalence on one side and the increase in a risk factor on the other – just ignore it. There are more environmental factors than there are genes and when they are studied individually, just like the effects of individual genes, the effects are small. Looking at the combined effect of multiple genes certainly leads to higher risk factors than individual risk factors. For example, studying the genetic component of autism risk in siblings finds a 20 fold increase but the increased risk because of pesticide exposure is like a 1 ½ fold risk. Over the past 15 years, scientists have been able to narrow down the period of exposure to be during pregnancy, and possibly prior to pregnancy. Everyone thinks about pregnancy but exposures actually affect the sperm and the egg too. It might be hard to realize how much progress has been made in the field, but Dr. Hertz-Picciotto pointed out in her final sentence: “in 2000 scientists knew enough about g x e in autism to put 5 bullet points on one slide. Now it can fill a full hour long talk”.

In addition to Dr. Herz-Picciotto, other environmental health scientists presented in this special panel. Dr. Bruce Lanphear, who is a world respected researcher in lead and IQ in children,

Most people with autism have some sort of sensory issue. This week, researchers at University of Wisconsin and University of North Carolina create new categories of sensory challenges in people with autism to figure out if they can predict functioning. The story is complicated (isn’t it always) but the findings that certain sensory subtypes lead to different adaptive outcomes. This information will help different groups people with autism rather than lumping them together. Also, this podcast discusses new findings on the risk of psychiatric problems in siblings of people with an autism diagnosis. Normally the literature focuses on people with autism, and as it turns out, siblings need extra attention as well.

In the 3rd Environmental Epigenetics Webinar co-organized by Autism Science Foundation, the Escher Fund for Autism and Autism Speaks, Dr. Christopher Gregg from the University of Utah discusses genomic imprinting. In 1 hour he describes what it is, how it affects behavior, and how the environment is relevant to this process. If you are confused about genomic imprinting you are not alone, watch this short video that explains it!

You can also find more information about his research here: http://conflictsinthemind.blogspot.com and http://www.neuro.utah.edu/labs/gregg/Welcome.html.

The recent prevalence numbers for autism were stable from 2014 at 1 in 68. However, a disparity in prevalence still exists for those of hispanic or african-american backgrounds. While these groups are under diagnosed, little research has focused on what it is like to have autism and also be from one of these races today. Gazi Azad and colleagues studied friendships during adolescence in people with autism across different racial backgrounds and what they found will sadden you. Also, what goes into that 1 in 68 number? As it turns out premature births accounts for a significant portion. And if you didn’t have a premature birth and still had a child with autism? Remember it accounts for a chunk, not the whole thing.

If you couldn’t make it to the ASF Day of Learning last week, this week’s podcast provides a 10 minute summary. Not the same as being there, but it will do. We will have videos of each presentation up soon, but this provides a quick recap. Researchers from basic science, translational research and those with a clinical perspective provided 12 minute summaries of different research areas. This included studying autism behaviors in mice, the role of single gene disorders to autism where there are hundreds of genes involved, understanding anxiety and technologies in the classroom to mitigate stress reactions, understanding recurrence of autism in the children of siblings with ASD, and resilience in females. The podcast also includes pictures from the event.

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.

In honor of world autism awareness day, this podcast is dedicated to the new prevalence numbers of 8 year old children with autism. Is this a trend that it is no longer on the rise? Given that people with autism need awareness, support, understanding, help and boatloads of help getting them, this is a good time to know where those numbers came from. There is more that needs to be done, especially for those that are not caucasian and need better access to services.

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.

Studies of very early signs of autism, even before an official diagnosis can be made, has led to better recognition of early signs and driven earlier and earlier interventions.  These interventions have improved the lives of people with autism.  The biological signs like brain activity, structure and genetics could further improve early intervention paradigms that look at biomarkers rather than just behavioral features.   Studies of these early signs are best looked at through symptoms in younger siblings of those with a diagnosis, who have a 20x higher risk of ASD compared to those who do not.  To move to even more high impact discoveries, researchers need more families to participate.  But what do families really think of this type of research?  Adults and parents agree on the value of understanding the early signs of autism, but not always about what to call it.  This week’s podcast explains.

About 25-30% of children with autism show language impairment or no language at all, and these families often use assisted communication devices like picture exchange to help their children communicate.  Recently, electronic communication devices like the iPad have revolutionized the way that people communicate, but little research has been done on how and if they are really effective.    This week, a multidisciplinary group of researchers added an assisted communication device, an iPad, to behavioral intervention for a 9 month trial.  As it turns out, the group with all 3 (language intervention, behavioral intervention and the communication device) showed the greatest gains in language and speech, but only when the intervention was intense.  This new study shows that in the right context, these devices can help those who do not communicate with words, and provides preliminary proof that this technology is indeed helpful.