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SPARK it up

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You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158

 

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Genes, environment and heritability: why does it matter?

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This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families.  What it did not do was calculate the role of gene x environment interactions which seems to be the forgotten stepchild of autism research.  This week’s #ASFpodcast explains why it is important to understand the heritability while at the same time study the combined effects of genetic and environmental factors.

https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2737582?guestAccessKey=d82b0145-f179-48bd-91bb-f77865732c3c&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=071719 

 

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What does and does not change the probability of an autism diagnosis

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Once again, this week another study  came out dismissing the link between vaccines and autism.  Add this one to the list, but this is one of the largest and takes into account genetic and non-genetic risk factors.  It continues to discredit the vaccine-autism link.  However, in other science, more evidence that prenatal folic acid supplementation, something women should be doing anyway, does reduce the probability of having a second child with autism.  So take your folic acid – either by prescription or over the counter.  As Martha Stewart says, it’s a good thing to do.

https://www.ncbi.nlm.nih.gov/pubmed/30831578

https://www.ncbi.nlm.nih.gov/pubmed/30810722

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Genes and Environment, Genes and Environment. Go together like aging and retirement.

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Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures.  While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models.  Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice.  Finally, across all of these disparate animal studies – does anything pull them together.  Are these models all one-offs or do they have anything in common?  It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology.

 

https://www.ncbi.nlm.nih.gov/pubmed/30659287

https://www.ncbi.nlm.nih.gov/pubmed/30668980

https://www.ncbi.nlm.nih.gov/pubmed/30679017

 

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A sampling of science from the International Meeting of Autism Research

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In case you didn’t have time to jump on a plane and fly to the Netherlands last week for the International Society of Autism Research meeting, this week’s podcast is a short summary of just a few of the presentations.  There was more of an emphasis on what has been called “real life” research questions like employment, quality of life, and relationships.  As a result, some of the more basic science questions around autism are now being presented at other meetings.  This is a shame.   This podcast follows some of those basic science questions to the now translational opportunities that were presented at the meeting.  It also highlights some newer findings that will provide help to people at all ages who need supports and services.

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Why the Environmental Protection Agency is important for autism

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The Environmental Protection Agency has a big job to do – keep our air and water clean.  They do so, in part, with air monitors placed across the United States which allow researchers to keep tabs on what is going on in our air.  This week, a study from Dr. Amy Kalkbrenner at UWM and colleagues replicated that certain types of air pollution increased risk of autism, as well as increased symptoms of severity of autism in those with a diagnosis.   These pollutants come from cars, but also coal burning power plants.  This new research calls for more action, not less, by the crucial staff and infrastructure of the EPA and policy to help support them do it.  #standwithEPA

https://ehp.niehs.nih.gov/ehp1867/

 

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Pregnant and concerned about autism? Folic acid can help.

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This week a bunch of new studies came out that focused on changes in probability of having a child with autism after folic acid consumption during pregnancy.  Moderate consumption folic acid and slightly elevated levels of plasma folate during pregnancy has now been shown in at least half a dozen scientific studies to reduce the chance of that child to be later diagnosed with autism.  This is not a prevention effect, but a reduction in probability.   There are enough studies on this question for a Chinese group to have organized them, put their data together, reanalyze them together and conclude that this is a real thing.  If this was an effect seen after say, drinking battery acid, maybe it might require more consideration to recommend to the community.  However, taking folic acid during pregnancy is something medical doctors are recommending pregnant women do anyway.

Want to learn more?  Here are the studies:

Swedish Study:  https://www.ncbi.nlm.nih.gov/pubmed/28978695

http://onlinelibrary.wiley.com/doi/10.1111/ppe.12414/epdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625821/pdf/13229_2017_Article_170.pdf

Denmark Study:  https://www.ncbi.nlm.nih.gov/pubmed/28946926

 

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The Final Word on Antidepressants and Autism Risk???

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Every time you turn around there is another study contradicting the last on antidepressant use and autism risk.  An answer on why there are differences across different studies may be found in a new analysis published by University of Washington and SSM Dean Medical Group in Wisconsin this week.  They showed that autism severity (not risk) is increased only with both a likely gene disruption AND following antidepressant exposure in pregnancy together.  This suggests a double hit model similar to other complex neuropsychiatric disorders like depression.  It also suggests that findings from other chemicals, like PBDE’s, may be dependent on gene / environment interactions too.  After all, a new systematic review showed PBDE’s during pregnancy are bad for the IQ of the child.  This provides insight on ASD risk and subtype given the multitude of possible genetic / environmental combinations out there.

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Internet addiction is a real thing and it is worse in kids with autism

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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.

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Webinar: Investigating gene x environment interactions in “single gene” autisms

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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.