Autism – 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: s41583-026-01031-7Download

A landmark study that uses brain organoids from different people with different genes associated with autism showed that the different genes act as roads that go on different journeys to the same destination. This will be an enormously important discovery for identifying targets to treat different autism symptoms across different genetic causes of autism and understand the diversity of symptoms. Also, the new Interagency Autism Coordinating Committee was announced and there is not much breadth of perspectives. https://www.nature.com/articles/s41586-025-10047-5

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 … Continue reading "Have you heard the good news?"

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 … Continue reading "Happy Birthday Simons Searchlight!"

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

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

….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 has a decrease in cell-to-cell communication in multiple brain regions, leading to social communication impairments. https://www.science.org/doi/pdf/10.1126/science.adh2602?casa_token=bjtbuFi5U88AAAAA:_ffcE-pGCPxh4re24ix_xDgenAS1cAgDHLIMJJQCCG_1LvxaJKrGwEb9LFuMNsTYhvtGqRwro1A1Smc https://academic.oup.com/cercor/article-abstract/34/13/121/7661138?redirectedFrom=fulltext&login=false#no-access-message https://pubmed.ncbi.nlm.nih.gov/39367053

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 … Continue reading "Where is autism stigma the worst in the world?"

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.

On the first podcast of 2024, we describe a new paper in the Journal of the American Medical Association or JAMA which uses physiological measurements like heart rate and skin conductance to predict severe and dangerous behaviors, specifically aggression. If aggression can be predicted, it might be able to be prevented. It turns out aggression … Continue reading "How to predict severe and dangerous behavior"

This week’s podcast re-explores a question about a potential therapy for autism – minocycline. Minocycline is an antibiotic used to treat a number of different infections and some anecdotal reports have linked it to an improvement of autism. This has led to some experimental trials on minocycline, with inconclusive results. This week, a multisite study … Continue reading "What’s the latest on minocycline for autism?"

Can biomarkers that measure things like visual social attention be a good proxy for an in person behavioral diagnosis? Why would this be important? This week’s podcast explores two new studies the the Journal of the American Medical Association that show a simple device called EarliPoint can be used to shorten the wait times to … Continue reading "Now you know the reason for decades of eye tracking research"

There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the … Continue reading "Top reasons to study the autistic brain"

Last week a publication (see below) was published as a commentary in the journal Autism Research. It states that researchers, parents, clinicians, educators and the overall community should not be limited in their use of language to describe the broad condition of autism. Some people experience impairments, deficits, and have limitations. Not only is it … Continue reading "The full semantic toolbox referring to autism"

Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at … Continue reading "The molecular signature of the autism brain"

While there are commonalities across autistic adults on many things, they differ. It might be time to stop saying “…..all autistic adults” when describing those on the spectrum. For example, for the most part, most autistic adults prefer email or text over other methods except when talking to friends and family. It was not universal, … Continue reading "Don’t say “….all autistic adults”"

The words “induced pluripotent stem cell” refer to a group of cells that are gathered from a person with a disorder, like autism, then changed or “induced” from a skin cell into an embryonic “stem” cell, and can be then made into baby brain cells, or baby heart cells or baby bone cells. This makes … Continue reading "What the h**l is an induced pluripotent stem cell?"

Since the ASF policy statement on marijuana for the treatment of ASD was published this summer, there have been some new scientific studies that may be of interest to families.  As it turns out CBD has opposite effects in the brains of people with autism compared to those without autism, meaning that it is absolutely … Continue reading "The latest on marijuana and autism across the globe"

Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, … Continue reading "Praise for genetic testing in ASD"

The question of whether or not autism is a difference or a true dysfunction in brain development has been debated for years.  A new study from Canada demonstrates that within an autism diagnosis, there is less of a difference in symptoms in the last 5 years than there was 30 years ago.  This raises a … Continue reading "Autism: Difference or Dysfunction?"

Did you know that in addition to the DoD’s support of the military, they all have funded $65 million in autism research?  This podcast discusses some of their programs and how they support military families and benefit the autism community. Want to read more about what they fund?  There’s a list here:  https://cdmrp.army.mil/search.aspx

This week is focused on what happens in schools, including classification, service receipt and new interventions.  How an educational classification translates to a clinical diagnosis, how and what factors are important in receiving services, what teachers think about repetitive behaviors and finally, a new intervention that can be delivered by therapists in school or mental … Continue reading "Do the rules apply in school?"

There is demonstrated genetic overlap between many neurodevelopment disorders including  ASD, ADHD, and schizophrenia, and now there is data showing similarities in the structure and size of the brains in people with autism and those with ADHD.  These differences depend on how severe social difficulties are, but the similarities are seen with ASD and ADHD, … Continue reading "Autism spectrum disorders underneath a bigger umbrella: more data from the brain"

A full transcript of this podcast episode can be read on the ASF blog here. Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid … Continue reading "Can IGF-1 treat autism symptoms? A clinical trial aims to find out"

Two new studies came out this week that implicates the role of the endocrine system in autism.  The endocrine system which regulates hormones in your body, also has a key role in brain development early on in fetal and child development.   PCOS is a metabolic condition and DDT is a toxic chemical banned years … Continue reading "What are PCOS and DDT, and what do they have to do with autism?"

Last weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas.  People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic … Continue reading "PMS: it’s not what you think"

Using resources from the Autism BrainNet, researchers from UC Davis show specific brain changes in an area called the amygdala in autism.  The amygdala is associated with fear, emotion and anxiety in people with autism.  But because they can look at the brain directly,  the actual number of neurons in the amygdala can be counted … Continue reading "Here’s to understanding why people with autism have anxiety in adolescence"

Sometimes treatment targets come from the places you wouldn’t expect.  This week, three new studies on the biological and sometimes, behavioral, effects of three commonly used compounds used to treat high cholesterol, edema, and angina were studied in people with autism.  Instead of focusing on just the behavior however, these studies took the approach of … Continue reading "Commonly used drugs that may help autism"

Yes, another type of mutation in autism was revealed this week.  Those that are evident after the sperm and egg meet to form the zygote but still very early, during embryonic development.  Because it occurs after the original zygote is formed, the mutation is not found in every cell or every region of the body, … Continue reading "Post zygotic mutations in autism: what you need to know"

Last week, investigators with the Autism Treatment Network published a long awaited study on the differences between the DSM IV and DSM5.    Other studies had relied on information on old pieces of paper to judge whether or not someone who met criteria under DSM IV would be now diagnosed with DSM5 criteria.  This study, … Continue reading "A different type of autism?"

This week two important studies which examine early influences of language development are explored.  First, we are lucky that Dr. Aaron Shield from Miami University joined to explain why studying children who are deaf and have autism, as well as parents of deaf children, are important for understanding language development.  He explores how autism is … Continue reading "The Young and the Deaf: the relevance to language development in autism"

Happy 4th of July weekend.  This week’s podcast is devoted to the studies in the past few months focusing on autism treatments that didn’t make it into the regular weekly roundup.  They include data that shows promising results (peer networks and iPads) as well as those that didn’t do as well as hoped (social skills).  There … Continue reading "A 4th of July quickie on new data for treatment of autism symptoms"

In order to ensure that researchers have enough brain tissue to understand autism spectrum disorders, the education and outreach campaign is being expanded past families to doctors and professionals that have access to tissue.  One of these groups is neuropathologists.  At their annual meeting this past week in Los Angeles, and entire afternoon was spent … Continue reading "Brain tissue: what has it done for autism lately?"

This week, autism lost a pioneer and advocate for autism research:  Isabelle Rapin, MD, a neurologist from New York’s Albert Einstein University.  The first part of the podcast is a brief summary of her accomplishments.  The second part is an study called “how to keep your child out of the hospital”, presenting a recent study … Continue reading "Memorial Day Memoriam: Isabelle Rapin"

Two studies of importance came out this week.  The first looked at the interactive effects of genetic mutations called copy number variations and air pollution.  Previously, ozone was not listed in the factors in air pollution that increased risk for autism.  But combine it with copy number variations – now the two together dramatically increase … Continue reading "Internet addiction is a real thing and it is worse in kids with autism"

Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups.  Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal … Continue reading "What is the focus this week? The unsung heroes of grandparents and clinicians"

On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published.  The press release can be found here.  In it, the researchers found even more genes of interest to autism.  Also, those with more of a specific type of mutation, copy number variations, had worse autism … Continue reading "Who could have thought the genetics of autism was so complicated?"

The brain is developing even after birth.  So interventions that are given very early have the best chance of remolding and rewiring a brain with autism to prevent autism related disabilities.  This week, a group from the University of London, Duke University and University of Washington measured brain activity during tasks that required social attention … Continue reading "The infant brain on early behavioral intervention"

This week the Infant Brain Imaging Study, or IBIS, published it’s 2nd study on the emergence of changes in the brains of individuals with autism.  While red flags for autism can be seen early, a diagnosis of autism is not typically made until after 24 months of age. Using a baby sibling research design, scientists … Continue reading "When can you see autism in the brain?"

Individual research studies are great.  But even better is when someone takes these studies and puts them together to see if one study shows the same thing another does, and if they do is the effect size consistent?  Sometimes you can only do this by going old school and pooling the data from the individual … Continue reading "Putting the pieces together around group social skills interventions"