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: [email protected]

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

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

It happens every year – this one belonged in the 2024 year end highlights but was published late in the year. Researchers at UCSD, UCLA and CHLA followed families with autism whose genetic test revealed a rare variant. Did it make a difference in care? Understanding? Referrals? If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing

Reference here: https://www.sciencedirect.com/science/article/pii/S1098360024002673

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.