Autism genes that are seen in everyone

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.

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

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.

Help for children with minimal language

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.

The full environmental epigenetics webinar from March 4th

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”.

A short recap of the environmental epigenetics of autism webinar.

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 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!