Genetic pathways leading to autism

This week we talk to Dr. Emily Hotez from UCLA, (and a sibling to an autistic adult) who has focused her research on reducing stigma and marginalization, which will ultimately improve research participation to increase scientifically valid options for families. She also works on a nationwide project to improve health outcomes in autistic individuals, from birth through adulthood. Her new project focuses on chronic stress on physical health in adolescents with autism. She explains the focus of her research, the study and why it is important, and other work she is doing to improve health care in those with a diagnosis and their family members. You can read more about her study here: https://uclasharelab.org/

A landmark study that uses brain organoids from different people with different genes associated with autism showed that the different genes act as roads that go on different journeys to the same destination. This will be an enormously important discovery for identifying targets to treat different autism symptoms across different genetic causes of autism and understand the diversity of symptoms. Also, the new Interagency Autism Coordinating Committee was announced and there is not much breadth of perspectives. https://www.nature.com/articles/s41586-025-10047-5

Air pollution, specifically one part of air pollution called PM 2.5 (named for the size of the crud in the air pollution) has been linked to autism. It’s also been tied to cancer, heart disease, asthma, obesity, and premature births. Air pollution typically comes from industrial sources and car exhaust, but it can also be the result of smoke from wildfires. Four new studies this week link air pollution exposure during pregnancy to autism. The Environmental Protection Agency has responded by easing penalties on producers of this air pollution, making it much easier for everyone to be exposed to high levels of air pollution throughout their lives. This week’s podcast reviews the new evidence and examines new policies which will increase the burden of air pollution to families. https://pubmed.ncbi.nlm.nih.gov/41547316 https://pubmed.ncbi.nlm.nih.gov/41443491 https://pubmed.ncbi.nlm.nih.gov/41271133 https://pubmed.ncbi.nlm.nih.gov/41557972

On this week’s podcast, we present new research summarizing how autism is part of a larger spectrum of neuropsychiatric disorders and issues. There are issues that people with autism experience that are not unique to autism; they are seen in people with ADHD, schizophrenia, bipolar disorder and depression. This is what is meant by “transdiagnostic”. These things include core autism features, co-morbid health problems, and can partially be explained by genetics. While autism is a unique condition, understanding how autism is placed in the wider spectrum of disorders and conditions will speed up discoveries in treatments and supports. Click to access mentalizing-impairments-across-11-psychiatric-conditions-a-transdiagnostic-systematic-review-and-network-meta-analysis-of-tasks-with-static-illustrations.pdf https://www.nature.com/articles/s41586-025-09820-3 https://pubmed.ncbi.nlm.nih.gov/41416939 https://pubmed.ncbi.nlm.nih.gov/41257798

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

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