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Autism genes that are seen in everyone

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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.

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The world agrees on studies of early autism. Find out what they think.

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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.

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Help for children with minimal language

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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.

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The full environmental epigenetics webinar from March 4th

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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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A short recap of the environmental epigenetics of autism webinar.

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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!

 

DirectExposure

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Regression in autism, down to the neuron

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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:

 

Screen Shot 2016-02-19 at 10.59.01 AMScreen Shot 2016-02-19 at 10.40.33 AM

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A presidential issue for people with ASD: employment

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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.

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How early do females with autism show differences?

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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.

 

 

 

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Monkeying around with symptoms of autism

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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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What’s the difference between social problems in ADHD vs. autism? Ask the ADOS.

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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.