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For this podcast, trans means transdiagnostic

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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

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The 2025 Year in Review

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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.

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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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The Science of Autism BrainNet

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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.

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Is folate an evidence-based treatment for autism?

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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

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The 2024 Autism Science Year in Review

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New Technologies, New Data, New Solutions

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.

2024 Autism Science Review
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An update on why there are fewer autistic females compared to males

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This week, special podcast correspondent #MiaKotikovski summarizes new research on the increasing prevalence of autism, with a focus on females. While the number of diagnosed females is increasing faster than the number for males, females assigned at birth still are less likely to receive a diagnosis than males. Additional evidence points to females having more genetic mutations and lower cognitive ability, so the questions remain: Are there females with autism who are just not getting diagnosed despite having all the autism features? Why not? Does autism in females “look” the same as autism in males? What sets them apart? These articles are all featured in the year-end highlight of research, so this is the time to get a deep explanation of the latest in sex differences in #autism.

https://pubmed.ncbi.nlm.nih.gov/34563942

https://pubmed.ncbi.nlm.nih.gov/39334436

https://pubmed.ncbi.nlm.nih.gov/33966484

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The ASF Year End Review of Science

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Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

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Nobody ever talks about catatonia

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Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

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Little Brains Answer Big Questions

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This week we talk to Sergiu Pasca from Stanford University. He has revolutionized the field of understanding the field of brain development in neurodevelopmental disorders and just published a new study which examined the genetic influence of brain assembly. The way he does this is quite remarkable. His lab uses assembloids, which are many many many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.

Open access! https://pubmed.ncbi.nlm.nih.gov/37758944/