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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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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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The average age of diagnosis depends on where, when, and how you ask

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While autism can be diagnosed reliably by 2 years of age, some people with autism don’t receive a formal diagnosis until much later.  Why not?  Racial and ethnic disparities as well as access to care issues are known factors.  This week, data from Denmark suggested that the diagnostic criteria has played a large role in prevalence in people with autism since 1980.  Many people who have autism may have been missed until they were older.  It suggests that older prevalence estimates were missing a proportion of autistic adolescents and adults.  Take away access and diagnostic barriers to a diagnosis, some kids followed from months of age in the baby siblings research consortium don’t receive a diagnosis at age 2, but do at age 5.  They always had autism, but their symptoms were sub-threshold for a formal diagnosis until age 5.

 

https://www.ncbi.nlm.nih.gov/pubmed/30398592 

https://www.ncbi.nlm.nih.gov/pubmed/30392626

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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