Autism Science Foundation Weekly Science Report

This year was a VERY eventful year for autism. If you want to hear a highlight of the good news, the great science that was discovered and the ideas developed to help families with autism, listen to this podcast or read the summary here: https://autismsciencefoundation.org/2025-year-in-review/. In summary: more precise subtypes of autism have been discovered and validated using biological markers, explanation for sex differences, new precision medicines for those with known genetic causes of autism, and new research studying the effects of early intervention. It was a great year for science, even with all the challenges from DOGE.

The immune system is critically involved in autism. Of course, there are still a lot of questions to answer, particularly whether dysregulation of the immune system is the cause or a consequence of autism among others. But it is not studied enough. This week’s podcast includes new studies that examine the role of the immune system in autism, and outlines the different theories of how the immune system is involved in ASD. https://pubmed.ncbi.nlm.nih.gov/41345879 https://www.sciencedirect.com/science/article/pii/S0889159125004490?via%3Dihub https://www.nature.com/articles/s41380-025-03349-7 https://pubmed.ncbi.nlm.nih.gov/41125877 https://www.nature.com/articles/s41386-025-02162-8

You may have heard terms in early intervention like “NDBI” or “Early Start Denver Model” and wondered if there was a difference in efficacy behind all these flavors of toddler interventions. On this week’s podcast, we speak to Dr. Giacomo Vivanti from @DrexelAutism, who combined data from 4 of these interventions across 700 children to see if they found similar or different effects of each protocol. This group of scientists also examined these interventions on the development of spoken language. The results reinforced: 1. the earlier the better when it comes to early intervention, 2. duration of the intervention matters, and 3. focusing on imitation may be a key to helping toddlers talk. https://pubmed.ncbi.nlm.nih.gov/41264359

Everyone knows cognitive ability is critical for understanding autism, however, how does it affect developmental trajectories of autism traits, and can it be accurately measured in those with severe intellectual disabilities? We discuss. Plus, more evidence that tylenol doees not cause autism. https://pubmed.ncbi.nlm.nih.gov/41207796 https://www.aaidd.org/docs/default-source/prepressarticles/which-score-for-what-operationalizing-standardized-cognitive-test-performance-for-the-assessment-of-change.pdf?sfvrsn=42950021_0 https://pubmed.ncbi.nlm.nih.gov/33211814 https://pubmed.ncbi.nlm.nih.gov/41203924

This week, a new study suggests a causal link not between Tylenol, but to COVID, which can cause a fever. There is clearly more research needed, but the findings are consistent with research on the link between maternal illness and autism. Also, it’s well known that genetics plays a role in how symptoms of autism emerge and present. Can genetics also explain why some people are diagnosed later? What about cannabis exposure during pregnancy? Is it a factor in a later diagnosis? For more information, listen to this week’s ASF podcast. https://pubmed.ncbi.nlm.nih.gov/41016606 https://www.nature.com/articles/s41586-025-09542-6 https://journals.sagepub.com/doi/10.1177/13623613251355257?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed https://journals.lww.com/greenjournal/abstract/9900/neurodevelopmental_outcomes_of_3_year_old_children.1392.aspx

Two pediatricians, a child neurologist and a child psychiatrist walk into the ASF weekly science podcast to discuss the safety, efficacy and appropriateness of leucovorin, the drug that the HHS is fast tracking through the FDA approval process. Does it work? Is it safe? What should I do or know when I talk to my doctor? Here is a link to the statement by the Society of Developmental and Behavioral Pediatrics: https://sdbp.org/sdbp-statements-regarding-leucovorin-tylenol-and-autism/ Here are the four studies mentioned: Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial Efficacy of oral folinic acid supplementation in children with autism spectrum disorder: a randomized double-blind, placebo-controlled trial Folinic acid improves the score of Autism in the EFFET placebo-controlled randomized trial Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms Here is a requested correction to one of the papers where a calculation error was made: https://pubpeer.com/publications/987569A781B9A602DCE7358D4513A0

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

In an effort to better understand the causes of autism in those with a known genetic variant associated with ASD or other developmental disorders, in 2010, the Simons Foundation launched Simons VIP, now known as  Simons Searchlight – an online international research program studying nearly 200 rare genetic neurodevelopmental disorders and working with over 60 patient advocacy groups across these conditions.  Since its inception, it has grown to not just study specific genes, but to provide de-identified aggregate data to researchers & industry, support for patient advocacy groups to bring together families & researchers (thanks to the generosity of the Simons Foundation), identify even more genes associated with autism, and create international communities.  These communities share similar underlying mechanisms even though there are sixty genes represented within Simons Searchlight. This week is a conversation with the principal investigator of Simons Searchlight, Dr. Wendy Chung, talks about why genes associated with autism and other neurodevelopmental disorders are so important to study, what the scientific community has learned, and how Patient Advocacy Groups have grown and flourished as a result of this understanding. If you are having problems accessing a genetic test, here are some tips Genetic Testing

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/

This week, Drs. Casey Burrows from @UMN and Shuting Zheng from @UTexas discuss a new paper looking at sex differences in autism features from 20-40 months of age. A new analysis done with data from the Baby Siblings Research Consortium concludes that, early in life, girls with autism show differences in some autism features (like joint attention) compared to boys. There are many reasons for this, including that boys and girls are just different, period. However, it adds to mounting data which may help explain why more males are diagnosed compared to females. More research needs to examine how girls and females present, what symptoms are harder to observe in females andy why, and most importantly, sheds insight how girls and females with autism need to be specifically supported. More here: https://www.epicresearch.org/articles/diagnosis-of-autism-occurring-earlier-in-children-though-still-late-for-many-initial-diagnosis-in-adulthood-increasing-in-women https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2837366

As the autistic brain ages, is it more vulnerable to other brain disorders? Recent scientific discoveries in Parkinson’s Disease and Alzheimer’s Disease show that there may be an underlying mechanism between these diseases and autism. However diagnosing someone with autism with an additional brain disorder, especially dementia, can be difficult. This week’s podcast covers the increased risk of Parkinson’s Disease in autism, as well as provides advice from a group of experts on how to diagnose an autistic person with dementia, since there may be overlap in features. https://jamanetwork.com/journals/jamaneurology/fullarticle/2834684?guestAccessKey=4961ce0b-24e8-412a-b1cc-35fc5826fbe1&utm_source=fbpage&utm_medium=social_jamaneur&utm_term=17468134139&utm_campaign=article_alert&linkId=837634061 https://pmc.ncbi.nlm.nih.gov/articles/PMC12144002

This week’s podcast includes summaries from two new scientific studies (with comments from one of the studies’ authors @SimonsFoundation and @princetonPPH) about that tackle grouping and labeling the differences across the spectrum into meaningful subtypes. Both provide scientific evidence, including behavioral and biological data, that support the use of different labels. This is more evidence that lumping everyone into one unitary “autism” diagnosis is not meaningful or biologically accurate, and that using computer-driven approaches, different behavioral subtypes map onto behavioral features. This supports approaches that more clearly describe different types of autism for better supports. https://pubmed.ncbi.nlm.nih.gov/40651720 https://www.nature.com/articles/s41588-025-02224-z https://www.sciencedirect.com/science/article/pii/S2451902224003793?via%3Dihub

This week’s ASF weekly science podcast features Dr. David Amaral, who directs the Autism BrainNet. The Autism BrainNet is a program that organizes the collection of post-mortem brain tissue and then distributes it to autism researchers worldwide to better understand the brains of people with autism. He discusses major scientific discoveries about the mechanisms of autism in the brain that were only possible by using this resource, and the brave generosity of families that make the program happen. Anyone can register to learn more about new scientific research and the program itself, it’s important that everyone at least know the program exists for future planning. You can learn more here: www.autismbrainnet.org.

This week’s podcast includes Storyform Science founders H. Adam Steinberg and Holly Kerby, both scientists who now help other scientists use storytelling to convey the importance of their findings to a broad community. Anyone can do it, and it is so important to help communicate to the public, convince policymakers to listen and granters to fund research. They offer an online course starting in July to help students do this, you can learn more here: https://storyformscience.com. The podcast includes visuals, so it is also posted on youtube here: https://youtu.be/hTFcpeVx4gI Here are some stills from the video in case you are unable to watch it on the internet.

Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is, how it works, how it is used and what is monitored during these treatments. https://www.nih.gov/news-events/news-releases/infant-rare-incurable-disease-first-successfully-receive-personalized-gene-therapy-treatment https://jaguargenetherapy.com

The NIH has launched the new Autism Data Science Initiative: https://dpcpsi.nih.gov/autism-data-science-initiative/funding-opportunities#section1, which brings questions about why linking different data sets is important. It can be done without including personal identifying information, and it should be done following ethical guidelines. If done correctly, using large datasets can answer questions relating to treatment, cause, better identification and personalized medicine for those on the spectrum. So what has linking data done for families? This week’s podcast summarizes longitudinal research that follows individuals across time, linking their information across different ages to look at factors that predict outcomes, environmental factors, and how to best support those on the spectrum. https://pubmed.ncbi.nlm.nih.gov/40420626 https://bmcpsychology.biomedcentral.com/articles/10.1186/s40359-025-02739-4 https://pubmed.ncbi.nlm.nih.gov/40391067 https://pubmed.ncbi.nlm.nih.gov/40309015 https://pubmed.ncbi.nlm.nih.gov/40401338

This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast provides a short summary of just some of the science presented. Michael Lombardo provided a keynote that included data from his research included on this podcast: https://blubrry.com/asfpodcast/137452290/factors-that-influence-heterogeity-and-how/ If you would like a copy of the INSAR program book, email me at ahalladay@autismsciencefoundation.org. Sorry, it’s too large to attach in the summary!

With the International Society for Autism Research underway and a new wave of misunderstanding about scientific evidence in autism, it’s time to think about what is science, how is it conducted, and why does it take so long? Who benefits from science and how? This is just the start, but gives a quick overview of why science matters to families affected by autism.

There is a cell in the brain called the microglia which has been traditionally overlooked as a target for therapies. New research supported by ASF and @FraxAresearch suggests that altering the function of microglia in the brain may help support the development of healthy and functional connections in the brain that may be impaired in autism, making the microglia a prime candidate for research. Drs. Marine Krzisch from @UniversityofLeeds and Dr. Mike Tranfaglia at @FraxAResearch describe the approach and how it can be developed to create specific therapies, that when combined with behavioral interventions, can drastically alter someone’s abilities. Dr. Krzisch is also interviewing families about how the findings will be explained when they are ready, what is important to them and what should research emphasize in the future. Participants will be compensated, just email her: M.Krzisch@leeds.ac.uk

Catatonia is a syndrome which includes immobility, stupor, and sometimes regression in psychiatric wellness or even ability to feed or take care of ones self. This syndrome is seen in autism about 10% of the time but is is often overlooked or misdiagnosed. This may be because the symptoms are relatively rare or because catatonia is harder to detect in those with autism. This week, special guests Drs. Joshua Smith and Dr. Zachary Williams from Vanderbilt University discuss what happens when researchers following people who are suffering from catatonia and autism across time. What treatments work? How? Click to access AUR-18-449.pdf ASF has partnered with NCSA, Autism Speaks, Vanderbilt University, the Catatonia Foundation and other groups to bring you a 6 part series on catatonia given by experts and family members. It is aimed at increasing the visibility and research priority of catatonia. It is NOT this podcast – you have to register via zoom seperately here: https://us06web.zoom.us/meeting/register/RV6rkPh_SAW8Hw3wmQdCrg