biomarker – ASF Weekly Science Podcasts

The word “mitochondrial deficits” gets thrown around a lot as a cause of autism, but what does this really mean? This week we interview Dr. Carisa Sirois from the University of Wisconsin, who recently published a review of how the mitochondria are involved in neurodevelopmental disorders. The ways mitochondria are involved in ASD are not simple, there are many different ways in which they affect cellular function, including genetic variations leading to impaired functioning, which then leads to brain level changes. We also discuss how the mitochondria are involved in a process called oxidative stress, which has been informally proposed to be a core process in autism.

Download the publication here:

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/

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

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

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 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.

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

This year’s progress in autism research includes promising findings, clarifications, explanations, and the uncovering of new avenues of inquiry. The focus is now on personalized medicine: finding the right treatment for the right person at the right time through targeted interventions. Advances in technology and genetic testing are opening new avenues for therapeutics, rapid drug testing, and improved differentiation of subgroups of autism.

While it may not seem like it, the COVID-19 pandemic brought some advances in care and understanding for people on the spectrum. One example is the development and validity of remotely administered assessments that families can participate in from home rather than travel to a clinic. These tools were built out of necessity, and are evolving into a set of tools that can be used to build better outcome measures for clinical trials. This round focused on those with autism and a rare genetic variant or “neurogenetic syndromes” since these individuals have a known biological etiology of autism. However, they may be further improved to be utilized across the autism spectrum.

https://pubmed.ncbi.nlm.nih.gov/39643599

https://pubmed.ncbi.nlm.nih.gov/39526825

Understanding factors that make each person with autism different has been a challenge, affecting diagnosis, interventions and the way we think about autism in general. Researchers at Istituto Italiano di Tecnologia, Rovereto, Italy, used computers to see how language, intellectual ability, motor and adaptive functioning grouped individuals into different categories. It turns out there are two groups – one group that improves over time and outperforms the other group consistently even in early life. The other group continues to struggle. These factors are not autism-specific, but do influence the creation of these different groups that are different biologically as well as behaviorally. This week’s podcast is an interview with the researchers on what it means for the future of understanding what might help what person at what time in their life.

The publication is open access and includes the model so their findings can be replicated widely: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00613-5