Autism Science Foundation Weekly Science Report

Two studies of importance came out this week.  The first looked at the interactive effects of genetic mutations called copy number variations and air pollution.  Previously, ozone was not listed in the factors in air pollution that increased risk for autism.  But combine it with copy number variations – now the two together dramatically increase risk.  Ozone levels are something that can be reduced through legislation.  Second, the role of internet addiction is generally not acknowledged or appreciated, but a recent study demonstrated that people with autism show triple the rate of internet addiction compared to those without autism.  This is something that psychiatrists and psychologists should know about when they think about treatments and comorbidities of people with ASD.

On May 4th, Dr. Janine LaSalle from UC Davis and (the soon to be Dr.) Keith Dunaway presented on recent research investigating the role of environmental factors in individuals with Dup15 Syndrome.  Individuals with a mutation on chromosome 15 are often diagnosed with autism and previously it had been assumed that these individuals were destined to have a diagnosis due to their genetics.  Dr. LaSalle shows that many of the genes in a critical region of chromosome 15 are tied to turning genes on and off via a process called methylation.  Environmental chemicals or other exposures may also work on these genes to turn on or off gene expression epigenetically.  The first half of the webinar reviews crucial ideas in gene x environment interactions and epigenetics, the second half describes experiments using brain tissue of those with Dup15 Syndrome and autism, as well as cell lines, to understand the role of PCBs in gene expression.

Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups.  Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism did just that.  You can find the full text here:

http://journals.sagepub.com/eprint/V5p3isSVAKDbdQf2jH4Q/full

Also, scientists are starting to understand the role of exposures in parents and how they affect diagnosis of autism in their children, but this week a new wrench was thrown into the wheel:  researchers in the UK found that grandparental exposures play a role in autism diagnosis too.  Luckily, this too is open access and you can read it for yourself.  It was covered in the media and we have perspective from a parent included.

https://www.nature.com/articles/srep46179

I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.

This week summarizes some new studies looking at autism traits and autism diagnosis in girls with anorexia nervosa.  While the two disorders may seem different on the outset, they do share some behavioral features.  Unfortunately, most studies look at autism in those with anorexia, not the other way around.  However, what is known is that there is not only higher levels of ASD traits in girls with anorexia, about 10% of girls with anorexia also have an autism diagnosis.  This number can only be trusted if you look at both standardized observation instruments AND parental report.  Studies determining the rates of eating disorders in autism are desperately needed for better treatment of symptoms.

As always, good news and bad news in autism this week.  First the good news:  an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age.  Now the bad:  mothers who experience severe childhood abuse are more likely to have a child with an autism diagnosis.  Why?  A new study explains it might have a lot to do with autism traits in the parents.  We would love to hear your thoughts on the results, please provide them in the comment section.

Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood.  While the study was interesting, the authors were the first to acknowledge the limitations, however, this did not stop the media from misrepresenting the results.  Details are explained in this podcast.  In addition, a big win this week for precision or personalized medicine:  different symptoms and different genetic mutations are linked to different outcomes from different anti-seizure medications.

On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC.  If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.

A list of the talks are:

* Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)

* Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)

* Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)

* Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)

* Understanding Modifiable Autism Risk Factors – Dr. Craig Newschaffer (Drexel University)

* Helping People with Autism Develop Practical Skills – Dr. Celine Saulnier (Emory University)

* New Technologies to Improve Autism Diagnosis – Dr. Robert Schultz (Children’s Hospital of Philadelphia)

* Understanding the Female Protective Effect – Dr. Donna Werling (University of California, San Francisco)

David Mandell’s presentation on parent/teacher communication was based, in part, on this publication:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676744/

…..may be overestimating the risk of drowning and suffocation in those with ASD.  The study claims a higher rate of drowning and other accidental deaths in people with autism, which is true, but the magnitude of the effect they found was astronomical and misleading given the methodology.  They counted people with autism off of information on their death certificate.  Not everyone with autism has this code listed on their death certificate – so likely this number is underestimated and the risk of drowning overestimated.  The shocking results call for things like swimming lessons in those with autism and other drastic safety measures.  People with autism ARE at a higher risk of drowning and we should all pay attention.   Ways to prevent accidental death in people with autism are needed and the overall message should be the same.  But the numbers themselves are probably a little off.

Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication.  Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms.  Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head.  Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast.  He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.

On March 13th, Dr. Mark Zylka from UNC gave a 60 minute overview of how researchers are using autism-relevant genetic mutations in cells to start to understand the interactions between genetics and thousands of environmental factors on gene expression.  He pointed out the convergence of pathways in how genes and these environmental factors worked in the brain, and they included:  neuroinflammation, early brain development, turning neurons on and off, and cell signaling.  Dr. Valerie Hu from George Washington University commented on the important impact of these results and perspective from her lab studying epigenetically modified genes, like RORA, which also may be sensitive to common chemicals found in our environment.  The entire webinar, including the questions that they were able to answer from participants, is found here.