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Have you heard the good news?

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The National Institutes of Health just awarded $50million to 13 different research sites to better understand genetic and environmental contributions to an autism diagnosis, or increase in prevalence in autism, as well as environmental factors which improve the quality of life for children and adults with ASD.

You can read about them here or listen to this 30 minute podcast which summarizes them.

https://dpcpsi.nih.gov/autism-data-science-initiative/funded-research

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Let’s Talk Tylenol

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This week the @WSJ reported that the upcoming MAHA report will include acetaminophen (also known as Tylenol in the United States, although it is used all over the world) use during pregnancy as a cause of autism. Acetaminophen is used in about 7.5 % of pregnant women. This is one of many environmental exposures that had previously been investigated in association with an autism diagnosis, but then disproven following rigorous and large scale studies with the right design. For example, is it acetaminophen or fever during pregnancy? Is it acetaminophen or some sort of underlying genetic susceptibility? This week’s ASFpodcast explores the association and what pregnant women should know.

https://pubmed.ncbi.nlm.nih.gov/40804730/

https://pubmed.ncbi.nlm.nih.gov/40898607/

https://pubmed.ncbi.nlm.nih.gov/39982125/

https://pubmed.ncbi.nlm.nih.gov/38592388/

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More about the environmental influences in autism

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New research points to a previously understudied but fascinating mechanism by which environmental factors may lead to autism: it’s called the “GABA/glutamate switch” which is a critical period in development when certain cells turn from turning on cell activity to turning them off. These environmental factors may delay this process leading to long term effects on the developing brain consistent with autism. While this data on the mechanism is brand new, the topic of the environment in autism was inspired by a recent effort at NIEHS which is developing an interactive database for people to access information about what environmental exposures have been studied and how in autism.

https://www.niehs.nih.gov/news/events/aware

https://www.pnas.org/doi/epub/10.1073/pnas.2406928121

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Father of mine

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In recognition of Father’s Day on the 16th, today’s podcast includes the latest research on fathers. Fathers may often be the “secondary caregiver” but should hardly be dismissed as inconsequential. Father’s sensitivity and insightfulness plays an important part in development, psychiatric diagnoses (including autism) change the the chance of having a child with autism, and more understanding is being done on the heritable factors associated with chemical exposures in the father.

https://www.tandfonline.com/doi/full/10.1080/14616734.2024.2326416

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11059471/pdf/main.pdf

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Resilience and heterogeneity in ASD

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Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/pdf/41591_2023_Article_2408.pdf

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A potential biomarker to AID, not MAKE, a diagnosis

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The media has just called another biological marker a “diagnostic test”, when in this case, it was always intended to be an aid, not a test itself. It involves using baby hair strands to look a variation in metabolism of certain chemical elements across time. Remarkably, it showed similar results in autistic children in Japan, the US and Sweden. It’s not ready to be used as a diagnostic test, so what is it supposed to do? Listen to an interview with the inventor and researcher, Dr. Manish Arora from The Icahn School of Medicine at Mt. Sinai School here.

The full article (open access) can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740182/

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Genetic confounding plus organoids

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You heard it in the news this week, and we discuss it on this week’s ASF podcast. Can you make little brains in a dish then make them better by providing them a real structured live neural environment? Can these organoids integrate with a live brain and be functional in vivo? The answers are: yes! Learn more from a new study published this week. Also, what the h**l is genetic confounding and how can it address many of the controversies of genetic vs. the environment? Sometimes genes that predispose to a disorder also predispose to environmental factors leading to that disorder. There is always room for both. Here are the links I promised:

https://www.fhi.no/en/studies/moba/

https://pubmed.ncbi.nlm.nih.gov/35793100/

https://www.nature.com/articles/s41586-022-05277-w

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A new ways for the environment to affect genetic expression

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You have maybe heard about how environmental exposures after conception or birth may affect genetic expression and then risk of developing autism. But what research has been done to look at preconceptional exposures, presumably exposures that affect the cells that then give rise to sperm and eggs? Turns out they are susceptible to some environmental exposure too, which could lead to a change in the way genes are expressed in the embryo, the fetus, and then the child. Want to know more? Jill Escher just published a study with scientific colleagues about this hypothesis and she explains it in this week’s podcast.

https://pubmed.ncbi.nlm.nih.gov/34596807/

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What causes autism? Genetics or the Environment? Or maybe both?

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Is it genes or is it the environment? or is it a combination? This question has plagued researchers and scientists and caused a lot of confusion in families about what caused their own or their child’s ASD. This week we review the mechanisms by which de-novo mutations could be the work of gene x environment interactions, and share new evidence of how SSRI’s do or don’t contribute to ASD through gene x environment interactions. We also want to recognize the valuable work of scientist Li-Ching Lee to these efforts. Dr. Lee recently passed away but will be sorely missed.

https://pubmed.ncbi.nlm.nih.gov/34002022/

https://pubmed.ncbi.nlm.nih.gov/34116791/

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Happy New Year – reasons to be excited for 2021

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Welcome to 2021! Over the holiday break, autism researchers were busy coming up with answers to important questions: 1) how does an environmental exposure relevant to ASD change gene expression and 2) does Telehealth work and for whom? The first question was addressed by an ASF undergraduate who published in Nature. He is going to go on to do great things.