In an effort to better understand the causes of autism in those with a known genetic variant associated with ASD or other developmental disorders, in 2010, the Simons Foundation launched Simons VIP, now known as  Simons Searchlight – an online international research program studying nearly 200 rare genetic neurodevelopmental disorders and working with over 60 patient advocacy groups across these conditions. 

Since its inception, it has grown to not just study specific genes, but to provide de-identified aggregate data to researchers & industry, support for patient advocacy groups to bring together families & researchers (thanks to the generosity of the Simons Foundation), identify even more genes associated with autism, and create international communities. 

These communities share similar underlying mechanisms even though there are sixty genes represented within Simons Searchlight. This week is a conversation with the principal investigator of Simons Searchlight, Dr. Wendy Chung, talks about why genes associated with autism and other neurodevelopmental disorders are so important to study, what the scientific community has 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

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

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

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

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

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

A few years after the start of the pandemic, and a couple of years into “recovery”, scientists are still disentangeling the effects of COVID-19 lockdowns and exposure. For example, is there an uptick in autism screen positives when pregnant mothers fell ill? Were there diagnostic disparities based on co-morbid conditions? Did autistic people feel better over time during the pandemic? This week’s #ASFpodcast explores these questions using new longitudinal data sets designed to better understand the long term impacts of the pandemic.

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/39312236

https://onlinelibrary.wiley.com/doi/10.1111/jar.13300

https://pubmed.ncbi.nlm.nih.gov/39228920

As health care and outcomes for very premature infants has improved, scientists are able to track their longer term behavioral development, and that includes risk of developmental disorders like autism. On this week’s #ASFpodcast, Dr. Jessica Bradshaw discusses her recent research examining biological predictors like body temperature and heart rate and how they are linked to early autism features like social communication deficits in toddlerhood. All parents of pre-meet need to be vigilant and lean into resources like @BabyNavigator to help track their infant’s development.

https://www.nature.com/articles/s41372-024-01942-2

Stressful life events, among other things, affect autistics more than those who are typically developing. Why? What would cause this vulnerability? New studies suggest that cognitive inflexibility may be the key. Autistic people tend to have problems with cognitive flexibility. As a whole, they show problems with flexible thinking, changing direction and being adaptable to new situations. This is clearly tied to insistence on sameness, a core feature of ASD. Can anything help? Research needs to look at the link between improving cognitive flexibility and mental health, but in the meantime, there are things that can be done to improve skills in this area. Check out a few below.

https://pubmed.ncbi.nlm.nih.gov/36196666/

https://pubmed.ncbi.nlm.nih.gov/36113122/

Anxiety is common in people with autism – but is is different than other types of anxiety or similar? Is it part of the autism phenotype? When does it start and what triggers it? Two new studies which use a longitudinal design and examine the links between autism features, anxiety symptoms and brain development are summarized this week. It shows that the amygdala is important, that some features of anxiety are core to ASD and some are separate, and it is related to autism features like insistence on sameness. This has implications for how anxiety is diagnosed and treated in those with ASD.

https://pubmed.ncbi.nlm.nih.gov/35871413/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116934/?report=printable