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?
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.
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 the @WSJ reported that the upcoming MAHA report will include acetaminophen (also known as Tylenol in the United States, although it is used all over the world) use during pregnancy as a cause of autism. Acetaminophen is used in about 7.5 % of pregnant women. This is one of many environmental exposures that had previously been investigated in association with an autism diagnosis, but then disproven following rigorous and large scale studies with the right design. For example, is it acetaminophen or fever during pregnancy? Is it acetaminophen or some sort of underlying genetic susceptibility? This week’s ASFpodcast explores the association and what pregnant women should know.
This week, Drs. Casey Burrows from @UMN and Shuting Zheng from @UTexas discuss a new paper looking at sex differences in autism features from 20-40 months of age. A new analysis done with data from the Baby Siblings Research Consortium concludes that, early in life, girls with autism show differences in some autism features (like joint attention) compared to boys. There are many reasons for this, including that boys and girls are just different, period. However, it adds to mounting data which may help explain why more males are diagnosed compared to females. More research needs to examine how girls and females present, what symptoms are harder to observe in females andy why, and most importantly, sheds insight how girls and females with autism need to be specifically supported. More here:
Autism and diseases of the aging brain
Aug 10, 2025
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.
What labels should be used to describe autism?
Jul 27, 2025
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.
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.
Helping science tell a story
Jun 28, 2025
This week’s podcast includes Storyform Science founders H. Adam Steinberg and Holly Kerby, both scientists who now help other scientists use storytelling to convey the importance of their findings to a broad community. Anyone can do it, and it is so important to help communicate to the public, convince policymakers to listen and granters to fund research. They offer an online course starting in July to help students do this, you can learn more here: https://storyformscience.com.
Here are some stills from the video in case you are unable to watch it on the internet.
Genetic therapies in store for neurodevelopmental disorders
Jun 16, 2025
Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is, how it works, how it is used and what is monitored during these treatments.
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 …
News from the International Society for Autism Research Meeting, 2025
May 11, 2025
This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast provides a short summary of just some of the science presented. Michael Lombardo provided …
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 …
Microglia as a target for new interventions
Apr 13, 2025
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 …
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 …
Contextual Factors in Autism: What took us so long?
Mar 14, 2025
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 …
Is folate an evidence-based treatment for autism?
Feb 23, 2025
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 …
An Explanation of Some of the Recent Scientific Research Announcements
Feb 09, 2025
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 …
How IQ impacts the “will do” of skills: adaptive behaviors
Jan 26, 2025
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 …
Do Transcranial Magnetic Stimulation and Direct Current Stimulation help people with autism? The latest science here.
Jan 13, 2025
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 …
We missed one for the 2024 year end summary: Proof of the importance of genetic testing in autism
Jan 05, 2025
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 …
The 2024 Autism Science Year in Review
Dec 23, 2024
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 …
Online autism assessments as a perk of the pandemic
Dec 16, 2024
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 …
An update on why there are fewer autistic females compared to males
Dec 08, 2024
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 …
Synaptic Density and Autism, explained
Nov 25, 2024
….or at a podcast with at least an attempt at an explanation of what synaptic density is and how it is affected in brains of people with autism. This week we review three convergent lines of evidence – whole brain, brain cell then genes within those brain cells – that show that the autistic brain …
Are you the grandparent, cousin, aunt, uncle, sibling, or half-sibling of someone with autism and wondered “what is the likelihood of autism in families, and the likelihood of comorbid conditions if I have a family member with autism?” Researchers at the AJ Drexel Autism Research Institute and Aarhus University in Denmark collaborated to calculate probabilities …
Despite many years fighting it, families with autism still experience societal stigma. The experiences depend on many factors, summarized in the October 21st podcast. This week, Mia Kotikovski explores cultural factors involved in stigma. As examples, she explores the literature from Asia, the Middle East and the United Kingdom, how they are different, and how …
Animal models of autism, including cell based models, have received criticism because autism is a uniquely human condition so there is no value in studying it in a model like a mouse or a cell. On the other hand, model systems have been used for decades to develop therapies for a myraid of other conditions …
Where is autism stigma the worst in the world?
Oct 20, 2024
This week, part 1 in cultural stigma around autism with Mia Kotikovski provides an overview of stigma, where it can come from across cultures and provides some examples of stigma in different countries. Different areas of the world are in different places in terms of their perceptions of autism, their needs for autism families, and …
Factors That Influence Heterogeity and How
Oct 13, 2024
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 …
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 …
In part 2 of the GI series in ASD, a new paper in the Journal of Nutrition and Gastroenterology describing the www.candidgi.com meeting is described. While sometimes doctors may be know-it-alls, sometimes they do not know-it-all and need experts to advise them, especially when they encounter individuals who may be hard to diagnose and treat. …
In the first of a two-part series on digestive health in ASD, Mia Kotikovski summarizes scientific information about what the complicated microbiome is, how it influences physical and psychiatric health, if it is altered in autism, and what causes it to be different in ASD.
More about the environmental influences in autism
Sep 08, 2024
New research points to a previously understudied but fascinating mechanism by which environmental factors may lead to autism: it’s called the “GABA/glutamate switch” which is a critical period in development when certain cells turn from turning on cell activity to turning them off. These environmental factors may delay this process leading to long term effects …
This week, special correspondent Mia Kotikovski discusses challenges in getting emergency care for those with autism, what doctors and hospitals can do to ease the stressors associated with places like the ER. This is a huge issue for families as many “simple” ER visits for their autistic family members can cause such stress it provokes …
Profound Autism: The first meaningful autism subgroup
Aug 12, 2024
Instead of grouping together people with autism based on traditional severity scores, what if groupings were done based on functional outcome? Would this help better understand the broad spectrum of autism and why some people with autism are so different than others? Researchers at the University of Minnesota led by Kyle Sterrett, together with UCLA …
During sleep, your brain is still active. It is turning all those things you learned during the day into long term memories through connections between the thalamus, hippocampus and frontal cortex. What happens in Profound Autism? How does the brain work during sleep and how will this knowledge lead to better sleep in people? Are …
What do Profound Autism Caregivers Need?
Jul 29, 2024
In part 1 of a 3 part series on Profound Autism, ASF interviews Emily Ferguson, PhD from @Stanford shares what she learned by asking parents and caregivers of Profound Autism “what do you need?” The short answer was: “There is No Help“. The responses were overwhelmingly focused on inclusion in any program or service, since …
Recurrence rates for families with an ASD child
Jul 21, 2024
What is the probability of having a future child with autism if you already have one or more? Families want to know. It helps preparation, planning, will hopefully improve early screening and supports. The Baby Siblings Research Consortium analyzed a bigger group of siblings compared to their 2011 numbers and found the recurrence pretty stable …
Alison Singer appears on @LifeWithTheSpectrum
Jul 15, 2024
In case you missed it, listen to Alison Singer with Gina Kavali on her podcast @LifeWiththeSpectrum. Alison talks about the importance of autism research and science in general, and how families can get involved.
Culturally sensitive care with Mia Kotikovski
Jul 07, 2024
On this week’s podcast, Mia Kotivkoski, founder of her own 5013c and recent graduate of Stony Brook University, reviews why understanding cultural and contextual factors influence not just an autism diagnosis but general health and outcomes of a broad group of people. They include immigrants, racial and ethnic differences, and socio-economic factors. What can be …
Breakthrough for those with rare genetic disorders
Jun 29, 2024
This week, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to …
Very rarely are scientists able to look at single genes within the brains of people across neuropsychiatric disorders and understand how the genes in each of these cells influence expression of proteins and interactions of different cells with each other. Recently, a collaboration called PsychENCODE released a series of papers that investigated what genes are …
In recognition of Father’s Day on the 16th, today’s podcast includes the latest research on fathers. Fathers may often be the “secondary caregiver” but should hardly be dismissed as inconsequential. Father’s sensitivity and insightfulness plays an important part in development, psychiatric diagnoses (including autism) change the the chance of having a child with autism, and …
We need more psychiatrists with expertise in autism
Jun 10, 2024
General psychiatrists are trained deal with a range of psychiatric issues in a variety of areas, but very few have experience helping families of children and adults with autism. This is training that is desperately needed, as, like other professions, there are not enough psychiatrists to help families and waitlists are staggering. Dr. Arthur Westover …
Biology of profound and non-profound autism
Jun 02, 2024
Scientists have spent a lot of time trying to understand the biology of autism, unfortunately in the past, scientific studies had everyone with autism lumped together in one group and there are so many differences between people with a diagnosis that any features of the diagnosis itself were hard to detect. In the past, researchers …
Are Naturalistic Developmental Behavioral Interventions controversial?
May 20, 2024
While NDBIs are generally considered beneficial, they still face controversies – do they actually work and does that translate to an improved quality of life for the family? This week’s #ASF podcast interviews Molly Reilly and Jinwei Song of @UConn to dive into these issues, as well as the role of the caregiver in the …
A legend in the autism community passed away on Friday. Today’s podcast focuses on the many talents of Dr. James (Jim) Simons, one of the founders of the Simons Foundation that has spent more than $500 million on autism research. We explain how he made his fortune, how he spent it, the importance of the …
What happens to premature infants as they get older?
May 06, 2024
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 …
Research for the end of Autism Action Month
Apr 28, 2024
In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher …
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