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, in 2010, the Simons Foundation launched @SimonsSearchlight. Since it’s inception, it has grown to not just study specific genes, but to provide resources to researchers, support for patient advocacy groups to develop clinical trials and to gather together, identify of even more genes associated with autism, and create communities. These communities share similar underlying mechanisms even though there are dozens of genes represented within @SimonsSearchlight. This week is a conversation with the leader of Searchlight, Dr. Wendy Chung from @BCH, about why genes are so important to study, what has the scientific community 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 Therapeutics 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

Contextual factors, or external factors, are environmental influences and can impact not just a diagnosis but the life course of a person with autism and their families. A recent commentary by autism researchers around the world highlights the importance of these factors and provides resources on how they can be collected in a rigorous, but accessible, way. Dr. Marsha Mailick, lead author of the commentary, discusses the definition of contextual factors, why they are important, and how they can influence development. Read the commentary – open access – here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3312

Today’s #ASFpodcast explains the potential and the unknowns behind folate, known as leucovorin when prescribe, for treating autism. CBSNews reported on a “miraculous” study using leucovorin that will need further research before it lives up to the type. However, it is an example of how different biological markers may direct what treatments work best in what people, and possibly an example of precision medicine in ASD. Second, more of the mystery of the male/female diagnosis difference in ASD. How do genetics affect liability in males and females? It’s been well established females have more of a certain type of genetic variation, but females are less likely to be diagnosis. New results show that the liability for autism is the same in males and females (both are just as likely to receive a diagnosis based on their genetics), however these two sexes may have a different threshold for an autism diagnosis. Females may need more of these mutations to receive an autism diagnosis. Read more below:



https://link.springer.com/article/10.1007/s00431-024-05762-6



https://pubmed.ncbi.nlm.nih.gov/27752075



https://pubmed.ncbi.nlm.nih.gov/39954678

The past couple of weeks have been a flurry of decisions involving government funding for research and health and wellness services. It’s been difficult to understand their impact without understanding the process in which science is evaluated for funding and policies around support of universities where the research takes place. In this podcast, we will clarify what environmental factors are associated with autism (not vaccines), summarize how grants are reviewed and what effect stopping them will have, and explain new rules around how much money research institutions receive in order to support that research, those “indirect costs” and what cutting them will mean for Research Institutions.



https://pubmed.ncbi.nlm.nih.gov/39891002



https://grants.nih.gov/grants/guide/notice-files/NOT-OD-25-068.html




Click to access actinghhssecretarymemoaction2212025-1737591296147.pdf

On this week’s podcast, Dr. Elaine Clarke from @RutgersU discusses the role of adaptive behavior. This refers to the wide range of skills that a person with autism can exhibit. Can they hold a conversation? Dress themselves? Prepare a meal? These sets of skills are strongly influenced by cognitive ability. Dr. Clarke will talk about the link between cognitive ability and adaptive behaviors and while there may be differences in the abilities across the spectrum, it means clinicians and families need to aim for what works best for their individual child. Read more below:







https://pubmed.ncbi.nlm.nih.gov/38317766



https://pubmed.ncbi.nlm.nih.gov/39679971




https://pubmed.ncbi.nlm.nih.gov/39056304

Two therapies that are meant to alter brainwave activity, called Transcranial Magnetic Stimulation and Transcranial Direct Current Stimulation are receiving a lot of attention for potential efficacy in treating autism. They are non-invasive, which means treatment is provided on the scalp. While results vary, the overall evidence does not support these two interventions in helping to treat core autism features. However, as TMS is approved for depression and OCD, people should ask their doctors about these potential treatments if they suffer from these conditions. Learn more in the articles below:



https://link.springer.com/article/10.1007/s00787-024-02635-z




Click to access nihms-1934887.pdf




https://academic.oup.com/cercor/article-abstract/34/13/8/7661139?redirectedFrom=fulltext&login=false