Autism Science Foundation Weekly Science Report: Recent Episodes
Autism Science Foundation
The Autism Science Foundation Weekly Science Podcast is a summary of the latest research in autism spectrum disorders. This podcast will discuss new science, research discoveries, meetings and discussions, news reports, and other information important to those affected by autism especially families.
Traditionally, scientists have been able to calculate the role of genes in autism, or the environment in autism. However, understanding the role of genes together with the environment, or the effects of the environment with a genetic background, has been very difficult. This is especially true with polygenic genetic risk factors, which is not a single gene but a combination of multiple genetic influences. Different environmental factors might be good candidates for testing because some of them are more accurately measured than others.
This week, we talk to Drs. Nilanjan Chatterjee and Christine Ladd Acosta both from Johns Hopkins University, who have tested and validated a new method to calculate the risk of not just genetics, or the environment but the two working together. They describe some of the factors they studied and why, and how this model can be used for further research questions.
https://pubmed.ncbi.nlm.nih.gov/42230772
This week’s podcast features beloved UCLA child neurologist Dr. Rujuta Wilson who helps families with autism and other neurological conditions, both with and without a known genetic condition. We discuss the overlap of motor disability with autism spectrum disorder, what we know, what we need to know and what research families can participate in to help solve these questions. Dr. Wilson also explains some common terms in motor abilities or disabilities and how recreational activities can enhance evidence-based therapies to improve motor function, and of course give joy to those participating.
The PROMISE Study_approvedDownloadWong.Wilson.sibs.motorDownloadsurvey.CN.wilsonDownload
Happy Pride! In honor of June, this week’s podcast focuses on the specific needs of those who are transgender or sexually diverse and also autistic. What is the prevalence of autism in those who are transgender and what is the prevalence of being transgender in those who are autistic? New research has emerged which shows that mental and physical health problems are more prevalent in those with an autism diagnosis and transgender compared to those who are not autistic and transgender. What can we learn about sex differences in diagnoses of males and females through studying those who are also transgender? Also, Laura Graham Holmes who authored one of the studies comments on the importance of her research.
Click to access 10.1177_07067437261442432.pdf
https://onlinelibrary.wiley.com/doi/10.1002/aur.70235
https://pubmed.ncbi.nlm.nih.gov/41614651
https://www.nature.com/articles/s41467-020-17794-1
https://pubmed.ncbi.nlm.nih.gov/41533668
We have talked already about the link between autism and dementia, however a lesser known association is the one between autism and another disorder of aging: Parkinson’s Disease. A recent presentation at INSAR revealed what is known about the relationship, why they are related, what causes the association and what people with autism can do to possibly mitigate the onset of dementia and Parkinson’s Disease. Thank you to Dr. Blair Braden and Samantha Harker and Manuela Velez Galindo from the Autism and Brain Aging Lab at Arizona State University (@autismbrainaginglab @asuresearch) for joining this podcast and explaining the findings so far and what they mean for individuals and families with autism.
https://pubmed.ncbi.nlm.nih.gov/25911091
In all the recent hype on the “overprescribing” of psychiatric medications, there is a circulating rumor antidepressant use in the mother during pregnancy has could be linked to an autism diagnosis in the child. Thankfully, there is research on this topic, and the results are clear: antidepressant exposure during pregnancy does not cause autism in children. Where would this idea come from? Early studies did show a weak link, but the association arises because there is a genetic link between having a psychiatric disorder like anxiety and stress and autism. Don’t stop taking your meds unless you discuss it with your doctor. References below:
https://pubmed.ncbi.nlm.nih.gov/42134364
https://pubmed.ncbi.nlm.nih.gov/42088678/
https://pubmed.ncbi.nlm.nih.gov/42168841/
SPARK – neuroscience, known to autism researchers as the other “SPARK”, is a project based out of Stanford University. This project does not collect genetics on hundreds of thousands of people, instead, they that provide funding, advice, support, mentorship, coaching and project management to scientists who have some evidence of a target in the brain relevant to autism. They help these scientists turn it into a potential drug or therapeutic that can help families. This is known as “translational research” and part of the “Valley of Death” where so many good drugs fail. This is a high-risk/high-reward endeavor. They are currently focused on therapeutics that target the functioning of the brain in autism and Parkinson’s Disease. Today’s guest is Dr. Opher Kornfeld, managing director of SPARK NS and neuroscientist. He explains how SPARK NS started, what they do, and how they have been successful helping scientists develop an idea into a potential product.
https://sparkns.org
In November, there will be many Congressional seats open. Wouldn’t it be great if it was someone with firsthand knowledge of the experiences of autism families and understood what they were facing? In NJ, that is happening. Dr. Samuel Wang, autism researcher and autism sibling, is running for Congress. Today’s podcast interviews Dr. Wang, why he decided to run, what he will do when elected and what he hopes to accomplish as a Congressmember. You can read more about him at www.samfornj.org
Another study on acetaminophen (known as paramecetol in Denmark) on probability of having a child with autism, this one with over 1.5 million pregnant women, 31k who were exposed to acetaminophen. The HHS Secretary is calling it “garbage in and garbage out” because it showed no link, but in fact, it is a strong study that examined multiple confounding variables and addressed questions that had been unanswered previously. This podcast is short and so is the message: Tylenol, also known as acetaminophen or paramecetol, taken during pregnancy, does not cause autism. Period.
https://pubmed.ncbi.nlm.nih.gov/41973453
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
What is the Independent Autism Coordinating Committee and why did it meet? This week’s podcast discusses the need and the agenda of Thursday’s meeting. In addition, more research showing that epidemiologists should consider different features of autism together with prevalence numbers because they may differ across the spectrum. Finally, different types of language development are seen in those with autism, so interventions should address these differences.
https://pubmed.ncbi.nlm.nih.gov/41786477
https://pubmed.ncbi.nlm.nih.gov/41789365
https://pubmed.ncbi.nlm.nih.gov/41849261
This week’s podcast summarizes some highlights in scientific research and includes a recognition of Rare Disease Week and actions taken by the FDA to ease the criteria for evaluating genetic therapies for rare genetic disorders, the best study to date on the mortality in autism, genetic prediction of outcome in individuals with a diagnosis, and Uta Frith’s commentary on the concept of “spectrum”.
https://pubmed.ncbi.nlm.nih.gov/41773580
https://pubmed.ncbi.nlm.nih.gov/41651809
https://pubmed.ncbi.nlm.nih.gov/41661606
https://archive.ph/fPscR
This week we talk to Dr. Emily Hotez from UCLA, (and a sibling to an autistic adult) who has focused her research on reducing stigma and marginalization, which will ultimately improve research participation to increase scientifically valid options for families. She also works on a nationwide project to improve health outcomes in autistic individuals, from birth through adulthood. Her new project focuses on chronic stress on physical health in adolescents with autism. She explains the focus of her research, the study and why it is important, and other work she is doing to improve health care in those with a diagnosis and their family members. You can read more about her study here: https://uclasharelab.org/
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
Air pollution, specifically one part of air pollution called PM 2.5 (named for the size of the crud in the air pollution) has been linked to autism. It’s also been tied to cancer, heart disease, asthma, obesity, and premature births. Air pollution typically comes from industrial sources and car exhaust, but it can also be the result of smoke from wildfires. Four new studies this week link air pollution exposure during pregnancy to autism. The Environmental Protection Agency has responded by easing penalties on producers of this air pollution, making it much easier for everyone to be exposed to high levels of air pollution throughout their lives. This week’s podcast reviews the new evidence and examines new policies which will increase the burden of air pollution to families.
https://pubmed.ncbi.nlm.nih.gov/41547316
https://pubmed.ncbi.nlm.nih.gov/41443491
https://pubmed.ncbi.nlm.nih.gov/41271133
https://pubmed.ncbi.nlm.nih.gov/41557972
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
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.
The immune system is critically involved in autism. Of course, there are still a lot of questions to answer, particularly whether dysregulation of the immune system is the cause or a consequence of autism among others. But it is not studied enough. This week’s podcast includes new studies that examine the role of the immune system in autism, and outlines the different theories of how the immune system is involved in ASD.
https://pubmed.ncbi.nlm.nih.gov/41345879
https://www.sciencedirect.com/science/article/pii/S0889159125004490?via%3Dihub
https://www.nature.com/articles/s41380-025-03349-7
https://pubmed.ncbi.nlm.nih.gov/41125877
https://www.nature.com/articles/s41386-025-02162-8
You may have heard terms in early intervention like “NDBI” or “Early Start Denver Model” and wondered if there was a difference in efficacy behind all these flavors of toddler interventions. On this week’s podcast, we speak to Dr. Giacomo Vivanti from @DrexelAutism, who combined data from 4 of these interventions across 700 children to see if they found similar or different effects of each protocol. This group of scientists also examined these interventions on the development of spoken language. The results reinforced: 1. the earlier the better when it comes to early intervention, 2. duration of the intervention matters, and 3. focusing on imitation may be a key to helping toddlers talk.
https://pubmed.ncbi.nlm.nih.gov/41264359
Everyone knows cognitive ability is critical for understanding autism, however, how does it affect developmental trajectories of autism traits, and can it be accurately measured in those with severe intellectual disabilities? We discuss. Plus, more evidence that tylenol doees not cause autism.
https://pubmed.ncbi.nlm.nih.gov/41207796
https://www.aaidd.org/docs/default-source/prepressarticles/which-score-for-what-operationalizing-standardized-cognitive-test-performance-for-the-assessment-of-change.pdf?sfvrsn=42950021_0
https://pubmed.ncbi.nlm.nih.gov/33211814
https://pubmed.ncbi.nlm.nih.gov/41203924
This week, a new study suggests a causal link not between Tylenol, but to COVID, which can cause a fever. There is clearly more research needed, but the findings are consistent with research on the link between maternal illness and autism. Also, it’s well known that genetics plays a role in how symptoms of autism emerge and present. Can genetics also explain why some people are diagnosed later? What about cannabis exposure during pregnancy? Is it a factor in a later diagnosis? For more information, listen to this week’s ASF podcast.
https://pubmed.ncbi.nlm.nih.gov/41016606
https://www.nature.com/articles/s41586-025-09542-6
https://journals.sagepub.com/doi/10.1177/13623613251355257?url_ver=Z39.88-2003𝔯_id=ori:rid:crossref.org𝔯_dat=cr_pub%20%200pubmed
https://journals.lww.com/greenjournal/abstract/9900/neurodevelopmental_outcomes_of_3_year_old_children.1392.aspx
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?
Here is a link to the statement by the Society of Developmental and Behavioral Pediatrics: https://sdbp.org/sdbp-statements-regarding-leucovorin-tylenol-and-autism/
Here are the four studies mentioned:
- Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial
- Efficacy of oral folinic acid supplementation in children with autism spectrum disorder: a randomized double-blind, placebo-controlled trial
- Folinic acid improves the score of Autism in the EFFET placebo-controlled randomized trial
- Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms
Here is a requested correction to one of the papers where a calculation error was made:
https://pubpeer.com/publications/987569A781B9A602DCE7358D4513A0
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
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
Genetic Testing
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.
https://pubmed.ncbi.nlm.nih.gov/40804730/
https://pubmed.ncbi.nlm.nih.gov/40898607/
https://pubmed.ncbi.nlm.nih.gov/39982125/
https://pubmed.ncbi.nlm.nih.gov/38592388/
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:
https://www.epicresearch.org/articles/diagnosis-of-autism-occurring-earlier-in-children-though-still-late-for-many-initial-diagnosis-in-adulthood-increasing-in-women
https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2837366
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.
https://jamanetwork.com/journals/jamaneurology/fullarticle/2834684?guestAccessKey=4961ce0b-24e8-412a-b1cc-35fc5826fbe1&utm_source=fbpage&utm_medium=social_jamaneur&utm_term=17468134139&utm_campaign=article_alert&linkId=837634061
https://pmc.ncbi.nlm.nih.gov/articles/PMC12144002
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
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.
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.
The podcast includes visuals, so it is also posted on youtube here: https://youtu.be/hTFcpeVx4gI
Here are some stills from the video in case you are unable to watch it on the internet.
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.
https://www.nih.gov/news-events/news-releases/infant-rare-incurable-disease-first-successfully-receive-personalized-gene-therapy-treatment
https://jaguargenetherapy.com
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
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 a keynote that included data from his research included on this podcast: https://blubrry.com/asfpodcast/137452290/factors-that-influence-heterogeity-and-how/
If you would like a copy of the INSAR program book, email me at ahalladay@autismsciencefoundation.org. Sorry, it’s too large to attach in the summary!
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: M.Krzisch@leeds.ac.uk
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
https://pubmed.ncbi.nlm.nih.gov/39056304
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 SolutionsThis 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
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 evolving into a set of tools that can be used to build better outcome measures for clinical trials. This round focused on those with autism and a rare genetic variant or “neurogenetic syndromes” since these individuals have a known biological etiology of autism. However, they may be further improved to be utilized across the autism spectrum.
https://pubmed.ncbi.nlm.nih.gov/39643599
https://pubmed.ncbi.nlm.nih.gov/39526825
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
….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
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 between autism in a person and dozens of other comorbid conditions in family members. They not only made the paper open to the public for everyone to read it, but they also created a publicly available data visualization tool so anyone can go on and look at specific situations of particular family relationships relating to anything from autoimmune conditions to mental health and psychiatric diagnosis. Links below for reference:
https://pubmed.ncbi.nlm.nih.gov/39283002
Interactive graphs: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5
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 families cope with that stigma in different areas of the world.
https://link.springer.com/article/10.1007/s40489-023-00373-7
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330163
https://link.springer.com/article/10.1007/s10803-019-04218-3
https://www.nature.com/articles/s41598-022-23978-0
https://molecularautism.biomedcentral.com/articles/10.1186/s13229-023-00579-w
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0261774
https://onlinelibrary.wiley.com/doi/full/10.1002/aur.2652
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 and disorders, and produced evidence-based treatments for not just autism but conditions from ADHD to schizophrenia. So why is there so much backlash about this line of research? The ASF podcast talks to Jill Silverman at UC Davis to get some perspective.
https://pubmed.ncbi.nlm.nih.gov/35285132
https://www.vox.com/future-perfect/377739/autism-research-mice-lab-models
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 what they perceive as their greatest difficulties. The topic is so important we broke it down into two sections. Please listen to both, it will explain a lot about autism services and supports around the world.
https://journals.sagepub.com/doi/10.1177/1362361318823550
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8992913
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11303671
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11303671
https://pubmed.ncbi.nlm.nih.gov/30248583
https://pubmed.ncbi.nlm.nih.gov/38507392
https://www.researchgate.net/publication/277816405_A_Cross-Cultural_Comparison_of_Knowledge_and_Stigma_Associated_with_Autism_Spectrum_Disorder_Among_College_Students_in_Lebanon_and_the_United_States?enrichId=rgreq-97b7d5f50aac4d5b124ea8295b42fdb0-XXX&enrichSource=Y292ZXJQYWdlOzI3NzgxNjQwNTtBUzoyNDI4NTI2Mzk4NDIzMDRAMTQzNDkxMTk4OTI3MA%3D%3D⪙=1_x_3&_esc=publicationCoverPdf
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
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. Those with intellectual disability and who are non-speaking may pose specific challenges in diagnosing medical issues, including GI problems. This podcast describes the symptoms that may be obvious, some that are not so obvious, and what GI doctors need to do to help these families.
https://pubmed.ncbi.nlm.nih.gov/37323113
www.candidgi.com
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.
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638778/
- https://www.frontiersin.org/journals/cellular-and-infection-microbiology/articles/10.3389/fcimb.2022.915701/full
- https://pubmed.ncbi.nlm.nih.gov/32968276/
- https://www.sciencedirect.com/science/article/abs/pii/S002432052300992X
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079226/
- https://childmind.org/article/autism-and-picky-eating/
- https://www.choa.org/medical-services/gastroenterology/feeding-and-swallowing/multidisciplinary-feeding-program
- https://pubmed.ncbi.nlm.nih.gov/38242089/
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 on the developing brain consistent with autism. While this data on the mechanism is brand new, the topic of the environment in autism was inspired by a recent effort at NIEHS which is developing an interactive database for people to access information about what environmental exposures have been studied and how in autism.
https://www.niehs.nih.gov/news/events/aware
https://www.pnas.org/doi/epub/10.1073/pnas.2406928121
This week, special correspondent Mia Kotikovski reviews the question “is autism caused by the microbiome or does the microbiome cause autism, or neither?” Scientists have shown differences in the gut microbiome in people with autism, but is there a link? Or is the link through the diet, which is different in most people with autism. Mia reviews the evidence and talks about food sensitivity, the microbiome and autism.
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638778/
- https://www.frontiersin.org/journals/cellular-and-infection-microbiology/articles/10.3389/fcimb.2022.915701/full
- https://pubmed.ncbi.nlm.nih.gov/32968276/
- https://www.sciencedirect.com/science/article/abs/pii/S002432052300992X
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079226/
- https://childmind.org/article/autism-and-picky-eating/
- https://www.choa.org/medical-services/gastroenterology/feeding-and-swallowing/multidisciplinary-feeding-program
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 and UNC utilized a study that followed children with autism in the early 1990’s into their adulthood, in the 2020’s. They created and asked these families a set of questions (included in the manuscript below) to help identify levels of functioning in people with autism. This was done to help them and their families get the right support at right time. They found that these questions could differentiate people with Profound Autism based on things like level of independence and safety concerns. Dr. Sterrett talks with us on this week’s podcast to explain what they did and why it is so important.
https://pubmed.ncbi.nlm.nih.gov/39031157
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 there interventions already underway that are being tested that target sleep brainwaves? It can be hard to measure sleep, so in Part 2 of the Profound Autism Series, Dr. Dimitrios Mylonas from Harvard talks about his study to use portable home brain activity monitors that have been adapted for use in Profound Autism and an intervention based on this brain activity is being tested in other disorders. His study is now enrolling and is all remote, if you are interested in participating please email him at: DMYLONAS@mgh.harvard.edu
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 they are normally excluded from traditional programs. They also call for better multidisciplinary medical management. Needs were associated with a number of factors. Why talk to caregivers? Their perspectives help identify both research and service priorities in the future.
https://pubmed.ncbi.nlm.nih.gov/38963473
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 – 1 in 5 siblings will have an autism diagnosis compared to 1 in 36 in the general population. However, this number depends on a lot of things: Sex of infant, sex of sibling with an existing ASD diagnosis, number of autistic children in the family, race and socioeconomic status. Listen this week to hear all the numbers.
https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2023-065297/197777/Familial-Recurrence-of-Autism-Updates-From-the?autologincheck=redirected
https://pubmed.ncbi.nlm.nih.gov/38973707
In case you missed it, hear 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.
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 done? Listen to this week’s podcast to learn more.
https://www.aacap.org/App_Themes/AACAP/Docs/resource_centers/cultural_diversity/competency_curriculum%20_cap_training/cases_supporting_materials/clinics/Bernier-psychopathology_families_and_culture-autism.pdf
https://www.sciencedirect.com/science/article/pii/S1750946718300758?via%3Dihub
https://www.researchgate.net/publication/258193289_The_Impact_of_Culture_on_Autism_Diagnosis_and_Treatment_Considerations_for_Counselors_and_Other_Professionals
https://www.maactearly.org/uploads/9/2/2/3/9223642/considering_culture_facilitatorguide_final_102116.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614360
https://www.scientificamerican.com/article/why-are-there-so-few-autism-specialists
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 them, and the FDA approved it for use in a clinical trial. Years later, a new drug was approved that led to a reduction in behaviors associated with Rett Syndrome. Autism can take a lesson from this. In addition, can the genetics of autism be explained by parents with similar phenotypes? This is called assortative mating. The answer is complex.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450502/pdf/fped-11-1229553.pdf
https://www.nature.com/articles/s41591-023-02398-1
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38877467
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 expressed in what cells in autism in different situations, how cells that communicate interact with more support or glial cells, and what mechanisms are in place to identify ways in which the broad environment (chemicals, contextual factors, illness) may influence gene expression leading to disorders like autism, schizophrenia and bipolar disorder. This podcast summarizes these papers as they are related to autism – ore at least tries to.
https://www.psychencode.org/phase-ii
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 more understanding is being done on the heritable factors associated with chemical exposures in the father.
https://www.tandfonline.com/doi/full/10.1080/14616734.2024.2326416
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11059471/pdf/main.pdf
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 at UT Southwestern discusses some potentially simple solutions, what he has tried and worked, and how families and advocacy groups can get more involved to ensure that doctors know about the unique and difficult psychiatric issues that autistics face. His ideas will not happen spontaneously, it’s going to take work to make psychiatrists more tuned into the needs of the autism community. He even wrote a paper (link below).
https://pubmed.ncbi.nlm.nih.gov/38782841
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 grouped those who are cognitively abled with those who have average or superior intellectual disability, those who are able to express themselves verbally with those who cannot, and those who need 24-hour care with those who can live independently. This week, researchers changed that pattern of lumping all the autisms together by using profound autism as a subgroup and as a way to determine differences across autism subgroups. Researchers at @UCSD examined the cell sizes and the brain sizes of individuals with profound autism and compared them to those with non-profound autism. They found the larger the brain cell, the larger the brain size in different areas, and the more profound the autism. There were differences between profound autism, non-profound autism and typically developing controls. This is just a first step in using different classifications of behavior to understand the neurobiology of ASD and link brain function to autism behaviors, leading to more specific support for those across the spectrum.
https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00602-8#Sec26
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 intervention and how their influence affects the outcome. References below.
https://pubmed.ncbi.nlm.nih.gov/38719439
https://journals.sagepub.com/doi/epub/10.1177/13623613241227516
https://link.springer.com/article/10.1007/s10803-023-06198-x
Websites: PRT, ESDM, JASPER, EMT, SocialABCs, and Pathways
Books/Manuals: ESDM, PRT, JASPER, EMT
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 Simons Foundation to the autism community, and advice from Dr. Simons about how to experience a life well lived.
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
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 rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/
https://www.nature.com/articles/s41586-024-07310-6
Thank you to Dennis Wall from Stanford University for explaining what Machine Learning is, how it’s related to Artificial Intelligence (today’s four buzz words) and how these new technologies are helping families get a diagnosis. He talks about the overall goals of these techniques, highlighting Cognoa’s CanvasDx to provide remote diagnoses to potentially reduce the waiting lists for families.
Home
Did you miss the ASF 2024 Day of Learning and can’t wait for the videos to be posted? This is a 17 minute brief summary of what was discussed, but unfortunately, with no visuals. Don’t just listen to the podcast, watch the videos when they are posted. Also included in this podcast is a shoutout to the Profound Autism Summit which brought together hundreds of advocates around those who need 24/7 care for their lives. The link to their advocacy page is here: https://www.votervoice.net/ProfoundAutism/campaigns/112917/respond
This podcast has not covered transition from adolescence to adulthood in the past, probably because there has not been a lot of research in this area. Luckily, recently there has been a surge of investigations and scientifically – supported interventions and recommendations for individuals who are transitioning to adulthood. This podcast reviews the latest in where the gaps are and identified some (of many) areas that need further research. Here are the references that will be helpful.
https://pubmed.ncbi.nlm.nih.gov/38493400/
https://pubmed.ncbi.nlm.nih.gov/38501189/
https://pubmed.ncbi.nlm.nih.gov/38423723/
https://www.autismspeaks.org/tool-kit/transition-tool-kit
This week’s podcast will be an interview with Matt Cicoria from the podcast Behavioral Observations. We discuss the meaning of the words “Profound Autism” and why a blanket term of “autism spectrum disorder” may not be helping anyone on the spectrum. If you are in the Boston area on April 5th, please attend the Profound Autism Summit, link here: https://www.profoundautismsummit.org
Last week in North Carolina, the Meeting on Language in Autism was held, with 3 days of amazing presentations and lots of productive discussions about how language and speech develops and how people with autism communicate. This podcast describes the origins of language development and how intervention during toddlerhood can promote lifelong language abilities. To learn more about the meeting go to www.mola.org and to see the Autism Navigator, go to www.autismnavigator.org.
This podcast provides updates on studies that help with prediction of an autism diagnosis – which is important for preparing for the future and for intervening early. First, a study that uses environmental factors to create an equation for the probability of a diagnosis following a combination of of non-genetic factors only which does a fairly good, but not perfect, job at predicting a diagnosis. Second, a study that looks at the accuracy of a machine that predicts autism from eye gaze as early as 9 months of age and with only a 2 minute test. This one wasn’t as accurate as the one that takes longer and tests older kids, but it’s a first step. No ONE thing does a perfect job at predicting a diagnosis – it’s going to be a combination of things, tested over time and multiple times that will be most helpful at predicting a diagnosis. Both studies are open access!
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904522/pdf/fpsyt-15-1291356.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38429348/
On this week’s podcast we interview Dr. Susan Daniels who is the National Autism Coordinator for the Department of Health and Human Services. This position is created by the Autism CARES Act (which is under reauthorization) and represents one of the only disorders that provides coordinating functioning across funding agencies. We talk about what her office does, what the IACC is responsible for, and what the strategic plan for autism from the IACC advises congress to do. She also discusses some upcoming events for Autism Awareness Month.
Links referenced in our conversation are below:
https://iacc.hhs.gov
https://iacc.hhs.gov/publications/strategic-plan/2023/
https://iacc.hhs.gov/funding/data/
https://p2a.co/tCy86Lk
In the last version of the Diagnostic and Statistical Manual, the different subtypes of autism were folded into one label: autism spectrum disorder. A similar revision is being made around the International Classification of Diseases, the system the WHO uses across the world to describe autism and provide appropriate reimbursements for services and supports. In this version, the ICD-11, a combination of 300 different presentations of autism are described. A diagnosis can be made if 1 feature of social-communication and 1 feature of repetitive behaviors are documented, with an onset of any time in life. This is causing a lot of confusion in the community, because since the presentations are not specific to autism, it is difficult to provide an accurate diagnosis using the ICD-11. This week we talk to German psychiatrist Inge Kamp-Becker, MD, who outlines what the changes are, and how misdiagnosis can be made and what those consequences might be. Her summary is linked below.
https://www.nature.com/articles/s41380-023-02354-y
Are you the parent of an infant? Are you wondering how you can get assessments on your child without having to struggle with your pediatrician’s time at a well- baby checkup? Are you interested in how your baby is thinking or communicating but your doctor says “it’s too early to tell?” A new study based out of Duke University is using remote computer based assessments to understand the very earliest markers of language and cognition to better predict later social development. The twist? It’s all done remotely. You can participate in research, get a gift card, and learn about your baby’s development all without leaving the house. This has been a struggle for many families and this may open the door for more video-based, but thorough, assessments.
Children Helping Science
sites.duke.edu/risebattery
Irritability and aggression are dangerous behaviors that can lead to harm and injury and are overlooked in research. Unfortunately there are only two FDA medications approved to treat them in autism. The drugs have many side effects, and there are efforts to improve these treatments and minimize side effects by lowering the dose with adjunct therapies that enhance the efficacy of the drug. So far, there are a few promising leads, but nothing that is ready for the clinic. How do scientists make the move from an interesting discovery in a lab to testing the safety and efficacy of a drug? Through animal models or model systems that examine different phenotypes in an animal and test medications on outcomes like aggression. Mice are not people, but they are necessary to ensure safe and effective treatments are translated into practice.
https://pubmed.ncbi.nlm.nih.gov/38263251/
Those who are minimally verbal or non speaking represent about 25% of those with an autism diagnosis, yet there is really a lack of effective interventions for this group of autistic individuals. It used to be that everyone who was non-speaking was thought to have minimal ability to understand language, since understanding and speaking are …
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"
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 …
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?"
A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that …
Everyone who has looked for support for autism spectrum disorder is familiar with waitlists. Waitlists for evaluation, diagnosis, intervention, consultations and referrals. These waitlists prevent important opportunities for services and many groups developing technologies, policies, and approaches to reduce the waitlists or work around them. On this week’s podcast, we talk to Dr. Sharief Taraman …
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 …
The words “syndromic autism” have been used to describe individuals with autism who also have a rare genetic mutation. Is it time to change those words to something else? Scientists and clinicians Drs. Jacob Vorstman and Steve Scherer from the University of Toronto share recent data in understanding autism, the role of genetic testing in …
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 …
Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have …
In recognition of September 26th, this podcast explores one of the more dangerous issues in autism: wandering. But it’s really not wandering in the traditional sense. Wandering in autism mostly means running off, bolting, deliberately with intent and without permission. Obviously this leads to some very dangerous situations for people on the spectrum. How can …
Continue reading "All who wander are not lost. But many are lost and need help."
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 receive a diagnostic evaluation. Currently autism can be diagnosed at 18 months but most families do not get into an appointment until 4-5 years of age. That can change. Families were able to easily complete it, it predicted things like not just a diagnosis but behavioral features and cognitive ability. It’s been deployed in 6 speciality centers, been approved by the FDA, and hopefully coming to a clinic near you soon.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481232/
https://pubmed.ncbi.nlm.nih.gov/37668621/
Everyone needed support during the pandemic, but families affected by autismneeded special support. This included siblings. Researchers at Massachusetts General Hospital tried out an intervention around stress and anxiety reduction in siblings in 2020. Not only was it liked, it worked. It didn’t completely eliminate stress and anxiety, nothing would, but it did help siblings … Continue reading "Support for Siblings during COVID"
In a highly discussed paper, researchers from Drexel University report their findings on a scientific and methodologically rigorous study on the accuracy of information on the social media platform Tik-Tok. They also discuss where the accurate and inaccurate information comes from and how it is viewed. The accurate and inaccurate get “liked” equally, meaning they … Continue reading "Tik-Tok for autism information? Nope"
This week’s podcast covers two new papers of interest to the autism community. First, another study showing increase in self harm and suicide in those with autism – no new news there – but a new discovery this week showed a vulnerability of females with a diagnosis. The study also explores the lower rate of … Continue reading "Suicide, self-harm and genetics in autism"
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"
This week’s ASF podcast returns with a special guest: Dr. Andrew Whitehouse from the University of Western Australia talks about a new unifying theory of the spectrum of autism symptoms and features. It’s called “emergent and transactional”, and while the original author was Dr. Jonathan Green from the UK, Dr. Whitehouse wrote a clear explanation … Continue reading "“Emergent and Transactional” with Dr. Andrew Whitehouse"
This week’s podcast explores new evidence that exercise produces longer term improvements in coordination and motor skills. Parents can play a big role in how these skills are developed over time. Physical exercise also has different effects on the brain in typically developing people than those with a diagnosis. https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2969 https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2977
Two recent papers suggest that a childhood diagnosis of ASD is important for adulthood quality of life and well being. But another one points out that it isn’t the only thing, or even the primary factor, involved in improved quality of life and well-being as autistic adults age. There are others, like comorbid mental health … Continue reading "The importance of a childhood diagnosis"
The disparity in diagnosis between Black kids and white kids is narrowing, but not by luck or coincidence. Based on previous research, clinicians are altering their professional training and their outreach to make sure more Black families are diagnosed and receive interventions. On today’s podcast, we highlight a recent study that focused on different ways … Continue reading "Juneteenth, 2023"
Compared to other types of research, there are so few studies that look at three time points in the same person with autism over their live to better understand groups and predict outcomes. What is missing? What do families need? What’s there and what could be done differently to get at the answers that will … Continue reading "Following our trajectory"
Digital therapeutics may very helpful in helping families and individuals on the spectrum. What are they? How can they be used? This week’s #ASFpodcast talks to Lani Hessen from the Digital Therapeutics Alliance who is holding a summit this week in Washington DC. There is technology that is already used to help those on the … Continue reading "Uncovering the digital underground"
With just a few weeks to go until June, this week’s podcast is a short summary of the prevalence of transsexuality in the autism community and how many people are autistic in the trans community. More importantly, there are guidelines about the identification and care for those who have these co-occurring conditions. The references mentioned are below:
https://pubmed.ncbi.nlm.nih.gov/36996732/
https://pubmed.ncbi.nlm.nih.gov/36721890/
https://pubmed.ncbi.nlm.nih.gov/36358354/
https://www.tandfonline.com/doi/full/10.1080/15374416.2016.1228462
https://4w.pub/autism-puberty-gender-dysphoria-view-from-an-autistic-desisted-woman/amp/
Last week in Stockholm, Sweden, 2200 researchers and scientists working to understand and help those on the spectrum, met to share their most recent findings and exchange ideas. What were the main takeaways as ASF saw them? We cover why some autistic people don’t want genetics to be studied, how to better engage families with IDD and who are non-speaking, females, adults, international studies and yes, diversity. The program book was released a day before the meeting and can be found here: https://cdn.ymaws.com/www.autism-insar.org/resource/resmgr/docs/annualmeeting/insar2023_program_book.pdf
The title gets you, right? Well, on this week’s #ASFpodcast we report on a new study that examines epigenetic profiles of sperm and how they related to child outcomes. Do some of the marks on bio-dad’s sperm match to those found in kids with ASD? what about genes related to autism? Also, can parents be good proxies of their child’s intellectual ability? For the most part yes, but sometimes they tend to overestimate this ability. This means they are good, but not perfect reporters. How could they be if the child has a severe intellectual disability?
https://pubmed.ncbi.nlm.nih.gov/37097835/
https://pubmed.ncbi.nlm.nih.gov/37100868/
Quick answer: 26.7%. But what is “profound autism” and why is this label necessary? Have the rates of profound autism changed over time? How many do not have profound autism and are their needs different and how? Listen to this week’s ASF podcast and read the paper here: https://autismsciencefoundation.org/wp-content/uploads/2023/04/CDC-Profound-Autism-Statistics_ASF-Copy.pdf
This week we conduct an interview with Michelle Hughes, PhD, epidemiologist with the CDC, who answers all of our questions about how many people have autism, how they are counted, what has changed since the last count and why the CDC are counting more kids than they were 10 years ago.
You can read more about her here: https://www.linkedin.com/in/michellemergler/
Here is a link to the 8 year old counting study: https://pubmed.ncbi.nlm.nih.gov/36952288/
Here is the follow up to when they turned 16: https://pubmed.ncbi.nlm.nih.gov/36849336/
This week, we talk to Whitney Guthrie from Children’s Hospital of Philadelphia who spent the last 6 years conducting the gold-standard randomized control trial that demonstrates intervention for social communication skills at 18 months shows greater effects than intervention starting at 27 months. If you wanted evidence that earlier is better, here it is! Interventions and supports are important at any age, but the critical window of development between 18-27 months is particularly important for long term development.
https://pubmed.ncbi.nlm.nih.gov/36922406/
What do anxiety, prevalence, ketamine, other neurodevelopmental disorders, siblings, genetics, brain imaging and the autistic researcher committee at INSAR all have in common? They were all topics at the last Day of Learning. You can hear a 20 minute summary of the talks on this week’s #ASFpodcast.
The CDC released data from the Autism and Developmental Disabilities Monitoring Network (ADDM) on Thursday. In the past 2 years, the prevalence of autism has increased about 20%. Why? Are there more new cases or is diagnostic practices improving? For 20 years there has been fewer Black and Hispanic kids diagnosed. Is that still the case? Listen to this week’s #ASFpodcast to hear some early thoughts, the CDC will join us for an interview on April 20th:
https://www.cdc.gov/mmwr/volumes/72/ss/ss7202a1.htm
https://www.cdc.gov/ncbddd/autism/data.html
TikTok is overtaking the internet and many are using this platform to learn about a variety of psychiatric illnesses and psychological problems. But how accurate are these videos in sharing medical information? Could they be causing things like tics? Do they influence individuals to self-diagnose and cause mis-diagnosis? There is a new phenomenon labeled “munchausen by internet”, and while some of the videos might be helpful in raising awareness, others are just spreading lies and causing psychiatric problems. In other words: be careful about TikTok. If a social media platform shares videos that tell you to eat laundry detergent, maybe you should not listen to everything they say.
https://journals.sagepub.com/doi/full/10.1177/07067437221082854
https://pubmed.ncbi.nlm.nih.gov/35473358/
Screening for autism is meant to cast a broad net to gather those who show enough features to be included for a full diagnostic evaluation. The most common of these tools is the MCHAT – the Modified Checklist for Autism in Toddlers. An author of the MCHAT, Diana Robins, and a colleague, Andrea Wieckowski and others gathered over 50 studies (English and other languages) in different types of samples (high likelihood and low likelihood) to determine how the MCHAT was doing in terms of finding infants with autism as well as excluding those without autism. It also touched on how well primary care doctors were doing in administering this tool. If you want to see the MCHAT for yourself or take it for your child, there is a FREE website, click here: https://mchatscreen.com
To read the paper, click here: https://pubmed.ncbi.nlm.nih.gov/36804771/
A new paper in Translational Psychiatry this week outlines the reasons why some conditions that occur with autism are actually co-morbid, and not co-occurring. The podcast will break down clues on why sometimes they are co-morbid, and present an argument on why they are important in understanding the vast heterogeneity of autism.
https://onlinelibrary.wiley.com/doi/10.1002/aur.2898
https://www.nature.com/articles/s41398-023-02374-w
Just like no two people are the same, no two strains of mice are the same. Using dozens of different strains of mice with and without a genetic mutation associated with autism called CHD8, researchers at University of Southern California showed great variability in the effect of this mutation on behaviors associated with neurodevelopmental disorders. This can reflect the great differences across people with autism and even people with a rare genetic syndrome associated with autism. It isn’t just one gene, it’s the other hundreds of genes that can contribute to susceptibility or resilience to different features of NDDs. One thing this study did not do was overlay environmental factors, which will also significantly influence the variability seen across the different background genetics in these mice.
https://pubmed.ncbi.nlm.nih.gov/36738737/
This week’s #ASFpodcast highlights a new study from Dr. Elizabeth Kaplan-Kahn, who is improving a measure of Quality of Life for autistic individuals who are minimally verbal or have cognitive disabilities. These individuals may have different outcomes as other autistics, but their responses are just as important. Dr. Kaplan-Kahn talks about what it means, how it is related to other outcomes collected, and what’s she’s doing to improve Quality of Life measures.
She working to do this through scientific study! If you or a family member is non-speaking or cognitively disabled, and want to help with improving measures of Quality of Life, click here: https://redcap.link/pablid
The media has just called another biological marker a “diagnostic test”, when in this case, it was always intended to be an aid, not a test itself. It involves using baby hair strands to look a variation in metabolism of certain chemical elements across time. Remarkably, it showed similar results in autistic children in Japan, the US and Sweden. It’s not ready to be used as a diagnostic test, so what is it supposed to do? Listen to an interview with the inventor and researcher, Dr. Manish Arora from The Icahn School of Medicine at Mt. Sinai School here.
The full article (open access) can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740182/
Many of the existing tools to identify autism cost money or are not specific for ASD, and they are hidden behind paywalls and are hard to obtain. A group of scientists led by Tom Frazer at John Caroll University put together a 39 questionnaire called the Autism Symptoms Dimensions Questionnaire to be filled out by parents of children. It’s free and open source! But that’s just the first step. The media got the intent wrong, yet again.
It should not replace a full diagnosis. Autism is complex, and even those with genetic forms of autism show heterogeneity in symptoms. They each need comprehensive evaluations. But this is a good start. Check it out here!!! It’s open source:
References below:
https://pubmed.ncbi.nlm.nih.gov/36670671/
https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.15497
https://pubmed.ncbi.nlm.nih.gov/36639821/
People tend to go towards a “strengths only” or “weaknesses only” approach to describing autism. But even if you think about a single aspect of autistic challenges – social communication – autistics can show both. How can you measure this, and even more importantly, document it to play to someones strengths while addressing their impairments at the same time? Special guests Dr. Matthew Lerner and Jacquelyn Gates from Stony Brook University explain how this can be done by clinicians.
https://pubmed.ncbi.nlm.nih.gov/36573397/
It’s that time! The ASF Year of End Science Wrap-up was published in December, so it’s time to share it on the podcast. We cover everything from parent mediated interventions to genetics and racial and ethnic disparities. You can listen here or read it on the ASF website here: https://autismsciencefoundation.org/autism-research-in-2022/
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 true, we should be talking about it. This podcast describes the motivation for the paper and the potential consequences of mandating the use terms that may not accurately reflect the diversity of experiences. While some papers have been published with the opposite sentiments, it’s important to understand both sides of this debate. We hope this paper leads to further conversation about this topic.
https://onlinelibrary.wiley.com/doi/10.1002/aur.2876
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/
Cognitive Flexibility: Keeping thinking limber and flexibleCognitive Rigidity in Autism
Like ASD, the prevalence of ADHD has increased significantly in the past 2 decades. A critical analysis examines the factors, and many of them can be applicable to the increase in the rise of autism diagnoses: increased diagnosis in adults, looser diagnostic criteria, and untrained professionals making the diagnoses. While they are not of course … Continue reading "ADHD and ASD diagnosis both on the rise. Coincidence or commonalities?"
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 the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf
This week’s #ASFpodcast highlights a few articles from the Journal of Autism and Developmental Disorders this week which examined the tolerability and efficacy of online diagnostic procedures and interventions, from the perspective of both parents and clinicians. They seem to work about the same, although there were some caveats. For many reasons, online and telehealth options are here to stay, and more needs to be done to improve their accuracy, acceptability, feasibility and effectiveness. These early studies are promising though, and lead the way to even more improvements to help make them a viable option for families in the future.
https://link.springer.com/article/10.1007/s10803-022-05435-z
https://link.springer.com/article/10.1007/s10803-022-05576-1
https://link.springer.com/article/10.1007/s10803-022-05554-7
https://link.springer.com/article/10.1007/s10803-022-05580-5https://link.springer.com/article/10.1007/s10803-022-05607-x
This week’s podcast explores the question about whether or not it is beneficial or just confusing to teach your child with autism multiple languages, or suppress the use of more than one language at home. Turns out, being bilingual helps with executive functioning (or those with preserved executive functioning can be bilingual), language, and provides … Continue reading "Bilingualism: is it best?"
You heard it in the news this week, and we discuss it on this week’s ASF podcast. Can you make little brains in a dish then make them better by providing them a real structured live neural environment? Can these organoids integrate with a live brain and be functional in vivo? The answers are: yes! Learn more from a new study published this week. Also, what the h**l is genetic confounding and how can it address many of the controversies of genetic vs. the environment? Sometimes genes that predispose to a disorder also predispose to environmental factors leading to that disorder. There is always room for both. Here are the links I promised:
https://www.fhi.no/en/studies/moba/
https://pubmed.ncbi.nlm.nih.gov/35793100/
https://www.nature.com/articles/s41586-022-05277-w
Clinical trials in autism are so incredibly important to families and adults, but sometimes hard to understand. Why? How can it help me or my family? What do I need to do? What do all of these terms mean? For researchers: it’s hard to get families to participate in my study. What can I do … Continue reading "The meaningful impact of clinical trials"
We normally focus on the function of brain cells that send signals to eachother and communicate across small or long distances, which show differences in ASD. However, we rarely pay attention to the other cells in the brain. One type of cell, called the microglia, has been shown to not only help “pick up the … Continue reading "The Meaning of Microglia"
Today is September 26th. In collaboration with the National Council of Severe Autism, we encourage all families to rethink their safety plan for wandering, fire, and other emergencies including national disasters like hurricanes by going to September26.org and doing a home checkup and prepare. Also, participate in a webinar at noon eastern today here: https://us06web.zoom.us/j/81442112062.
More and more, psychiatrists are looking to psychedelic medication to help individuals who are resistant to other types of therapies. These include seizures, PTSD and depression. But can they help individuals with autism or ease autism-related problems or improve cognition? Two new studies on cannabis and one on ketamine are summarized in this week’s ASFpodcast. … Continue reading "Psychedelics and Symptoms"
Sometimes when the autism community hears the words “genetics research”, it conjures up images of using genetics to eliminate people with autism. In fact, that’s not the goal of genetics research, nor is it even possible. Recently, several new studies were publish which illustrate how genetics can be used to help people understand their diagnosis, … Continue reading "Genetics does not equal eugenics"
Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness … Continue reading "What is the problem getting to the bottom of biomarkers and gene x environment interactions"
As Guy Fieri said “Cooking with kids is not just about ingredients, recipes, and cooking. It’s about harnessing imagination, empowerment, and creativity.” This week’s podcast produced by ASF intern Mia Kotikovski from Stony Brook University explores how cooking can be not just fun for autistic individuals, but how it can build healthy habits in everyone. … Continue reading "No-one who cooks, cooks alone"
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 … Continue reading "Is anxiety related to autism, and where is it in the brain?"
Thanks to Dr. Susan Kuo at Broad Research Institute and MIT, there is an analysis of 17,000 individuals with autism across 4 different studies that all looked at how developmental milestones emerged. The results show a great deal of diversity – across different studies, time, intellectual disability and genetic background. Different groups of people with … Continue reading "Why developmental milestones are so telling"
New neurons can be generated in a dish (amazing in itself), and then these neurons can then be studied to examine how they grow, expand, divide and connect. Using this technology, researchers are finding differences in several cell functions in different forms of autism. These differences are in proliferation, which is an increase in the … Continue reading "The earliest differences across ASDs"
This week we discuss the CANDID meeting: Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases, what was shared, what was learned, and where doctors and researchers need to do more. They included the link between the brain-gut connection, challenges in diagnosis, ongoing studies, potential solutions, and what pediatric gastroenterologists need to know about helping families … Continue reading "Let’s talk about poop"
We’ve heard a lot about social robots – do they help? One or two studies are not going to answer this, but a systematic review and meta analysis will! It turns out when you combined all the data, they do help in social abilities, but not other areas. This is how technology can help those … Continue reading "Little things to help the autism community"
This week’s podcast highlights a paper from the IBIS (infant brain imaging study) that tracks infants from 6 months to 5 years of age to examine how ASD symptoms cluster together. These infants either have a diagnosis or they don’t, or they have something which doesn’t meet diagnostic threshold but is still impairing in some … Continue reading "Is autism a yes/no diagnosis?"
This year’s first podcast dedicated to COVID issues explores both caregiver and clinician satisfaction with telehealth. New studies explore this satisfaction with assessment as well as psychiatric interventions. Also, as a follow up to the INSAR presentations on resiliency in mental health, a new study from Canada explains what may be at the core of … Continue reading "Hybrid is Most Helpful"
This week, the #ASFpodcast explores different types of interventions for which the core autism features are not necessarily the target, but those that enhance quality of life and provide help for irritability and emotional dysregulation. They include cooking, music therapies and antipsychotic medications. While they may not be effective in core autism features, they may … Continue reading "Pasta, music pieces and pills"
At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. … Continue reading "Autism means different things to different people"
This week is a pharmacopeia of inflation. The #ASFpodcast talks debilitating gastrointestinal issues and new efforts to understand and treat them (including the CANDID meeting www.candidgi.com), a new method to understand adverse events in those that cannot report them on their own, and new news on Celexa, which is used to treat anxiety. www.candidgi.com info@candidgi.com … Continue reading "What’s in the medicine jar?"
The amygdala has been shown to be differently sized in autistic people – at first it is too big then it becomes smaller than typically developing people. But how early are these differences seen and does it relate to a diagnosis? The Infant Brain Imaging Study tackled this question in a recent study which compared … Continue reading "How that little amygdala makes a big difference in autism"
In February, the CDC worked with the American Academy of Pediatrics to update the developmental milestones that parents should use when referencing how their child is developing. These milestones describe what should be accomplished by times as young as 2 months and as old as 5 months. These are helpful to all parents who wonder … Continue reading "Everything you wanted to know, and more, about the revisions to the CDC developmental milestones"
Parents or caregivers of children with ASD sometimes have a lot of difficulty helping their child brush their teeth. Parents and caregivers of children not on the spectrum have difficulty helping their child brush their teeth. By working with families on an individual level, coaching, encouraging and breaking down each of the steps of tooth … Continue reading "Tooth brushing: It’s not for sissies"
This year’s Day of Learning was a huge success, with topics ranging from biological sex differences to mobile technologies all the way to the importance and documented value of leisure activities in people on the spectrum. the speakers included a discussion of the IACC, sex differences, the value of prevalence data, mobile technologies, leisure activities, … Continue reading "A 2022 Day of Learning Quickie"
The answer is obviously “no”, however, animal models are necessary to help understand brain circuitry and improve interventions and supports for not just core symptoms but associated issues like anxiety, OCD, seizures and GI issues. Scientists view behaviors consistent with an ASD diagnosis differently, and this has created some problems in interpretation of animal model … Continue reading "Can animals be autistic?"
Environmental exposures, including toxic chemicals, can contribute to the causes of ASD. But how do other environmental factors, like behavioral supports, work in the brain to improve behaviors associated with ASD? For this, you need a broad interpretation of the term “environmental” and an animal model so you can see the mechanism involved. Studies show … Continue reading "Environmental factors as both causes and interventions?"
This week’s podcast focuses on innovative methodologies to understand how to reach black families, understand why and when autistic people prefer not to look at faces and how interventions can improve conversation and social communication. They use culturally and racially matched mentors, old home video tapes (keep taking those!) and machine learning to look not … Continue reading "New ways to solve old problems"
Several studies have linked the immune system to autism, but how are they connected? Two new studies this week illustrate differences in immune function in those with a diagnosis compared to those without, and also find differences in the blood of of pregnant mothers who go on to have an autistic child. Women who go … Continue reading "Is Autism Inflammation Nation?"
Autism diagnosis at 3 years of age isn’t something that happens suddenly. It evolves, there are deficits seen early on and markers that are evident prior to 3 years. Some of them are cascading events – with problems in one area like motor function, other behaviors like reaching, grasping, and learning about the environment and … Continue reading "Watershed moments in development"
This week is a “brick-a-brack”: of topics. They include: 1. how COVID-19 is especially dangerous for people with neurodevelopmental disorders; 2. how certain genes associated with neurodevelopmental disorders can affect other body functions other than the brain (like the digestive system and kidney function and metabolism); and finally, 3. why parents think their autistic children … Continue reading "What I like about you."
Parents are now used as intervention partners through a design called parent-mediated intervention. It started to be studied before the pandemic but has now become a necessity. Does it work? Should it always work for everything? How long should the intervention last and how often? These are all questions of interest, and while research is … Continue reading "Parents! Parents! Parents!"
This week, we talk to Karla Rivera-Figueroa and Inge-Marie Eigsti, who together with Nana Yaa A. Marfo published a systematic review asking about parental perceptions of autism in both LatinX and Black Sociocultural contexts. Six themes popped out, and the question for Karla and Dr Eigsti were “how can research help”? What funding opportunities, culturally … Continue reading "Advice for better understanding underrepresented groups in autism research"
Most people with autism have some sort of sensory dysfunction: hypersensitivity or hyposensitivity or sensory avoiding behaviors to touch, smell, sound, light. But a new study looking at kids from the Study to Explore Early Development (SEED) suggest that it may be more important than you think. In fact, it was the only feature to … Continue reading "How important is the sensory system?"
It’s up! The 2021 Year End Summary of Autism Science. It covers everything from glial cells to girls and females, from those that are traditionally underserved to the genetic underpinnings of ASD and siblings and everything in between. It’s a 30 minute recap of the highlights of research from the past 365 days. You can … Continue reading "The 2021 Year End Summary of Science"
On Tuesday, the journal Lancet published a 2+ year long endeavor around understanding the heterogeneity of autism not just in features but in access to services for individuals and families across the world. They called for a stepped care to help individualize and prioritize needs in different individuals based on their needs, not their diagnosis. … Continue reading "“Profound” Autism"
You have heard a lot about how the pandemic affected those with a diagnosis – and it isn’t good. Recent studies have turned their attention to stress and anxiety and depression of caregivers during the pandemic. It was higher in those parents with children of a neurodevelopmental disorder, but it was also complicated, related to … Continue reading "How the Pandemic Affected Parents"
On this week’s podcast, we interview Dr. Giacomo Vivanti from the AJ Drexel Autism Institute who, together with Daniel Messinger from University of Miami, wrote an analysis of how research and intervention have changed since the DSMIII was written 40 years ago. They include theories of the causes of autism, the theories of the deficits … Continue reading "Have things changed for the autism community in the last 40 years?"
Two weeks ago the topic was gene x environment interactions. But some genetic variants, including rare genetic variants, can exert huge influence on a diagnosis by themselves. New data from genetic samples that have been sequenced are showing an increase in the number of these genes and the role of these genes, and how they … Continue reading "Rare and common genetic variation in autism"
The practice of ABA, or applied behavioral analysis, can be easily misunderstood. Rather than a single procedure, ABA is a variety of techniques that can be applied to different situations to improve communication, reduce aggression, and improve the quality of life of people on the spectrum. Why is it getting a bad reputation? Is the … Continue reading "All about ABA"
You have maybe heard about how environmental exposures after conception or birth may affect genetic expression and then risk of developing autism. But what research has been done to look at preconceptional exposures, presumably exposures that affect the cells that then give rise to sperm and eggs? Turns out they are susceptible to some environmental … Continue reading "A new ways for the environment to affect genetic expression"
A couple of weeks ago, a group in Australia published a study that investigated the efficacy of a “preemptive” intervention. That is, what happens if you provide support to parents to improve social communication, interaction and skills in infants before a diagnosis can be made? The results have a lot of meaningful implications of what … Continue reading "Here’s what you won’t hear about that new JAMA study on Twitter"
You may know this as “masking” or “camouflaging” where autistic adults intentionally or unintentionally hide their autistic features to pass as non-autistic because they want to hide some of their challenges. This week, Drs. Erin Libsack and Matthew Lerner from Stony Brook University summarize a systematic review on this behavior. The original goal was to … Continue reading "Passing as Non-Autistic"
Instead of a podcast, this week is a message in honor of the 1 year anniversary of the death of advocate and mother Feda Amaliti. Stay safe. Out of this tragedy, a website has been built that contains information for families on how to prepare for an unexpected emergency and what to do when it … Continue reading "September26.org"
Early changes in eye gaze – or the time spent looking at another person’s face compared to the scene around them – is diminished in ASD. It starts to decline at about 12 months and is linked to later social communication behaviors. But many people wonder why this is an early developing behavior worth studying? … Continue reading "Who cares about eye gaze?"
https://pubmed.ncbi.nlm.nih.gov/34378867/ There have been several small, or small-ish, studies looking at the link between dementia and autism or ID. However, recently, the largest medical record study of 500k people, 12k of which were autistic and 26k were autistic and had ID, examining early onset dementia was published. Those with ASD had a 1.9 increased risk … Continue reading "The risk of dementia in older adults"
Siblings of people on the spectrum, including autistic adults, are amazing. They support, advocate, fundraise, and now we know they actually have a direct influence on the outcome of their affected brother or sister. What’s that effect? When is it most obvious? Does gender or race matter? All of these questions will be answered by … Continue reading "Super, Superb and Sensational Siblings"
Food insecurity during the pandemic is affecting us all, but even before the pandemic it was a greater problem in families affected by ASD. Now, during the pandemic and restrictions in access to food, food programs at schools and unemployment, it’s an even bigger problem. Dr. Arun Kapur from Autism Speaks describes his study examining … Continue reading "Food Insecurity and COVID for families with ASD"
It’s estimated that anywhere from 10%-30% of females on the spectrum also suffer from an eating disorder, and that autistic traits are high (even without a diagnosis of ASD) in those with eating disorders. There is clearly crossover in the underlying biology somehow, but while that is being determined – help for those with ASD … Continue reading "Eating Disorders and Feeding Disorders in ASD"
Children and infants who later go on to have an autism diagnosis show impairments in communication. Is there anything that parents can do? Yes! Talk. Talk in complicated sentences. Talk responsively and keep it up. This isn’t always an inherent skill, it’s learned, and in this podcast we talk about the biological basis of why … Continue reading "Talk talk talk…..it may make a difference to your infant"
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”"
It turns out that autistic individuals have a higher rate of gender variance than those not on the spectrum. This doesn’t require treatment in the traditional sense, but a better awareness, psychosocial supports, and understanding among clinicians that can provide services and help for those that need it. Today’s podcast focuses on recent studies linking … Continue reading "Happy Pride!"
Is it genes or is it the environment? or is it a combination? This question has plagued researchers and scientists and caused a lot of confusion in families about what caused their own or their child’s ASD. This week we review the mechanisms by which de-novo mutations could be the work of gene x environment … Continue reading "What causes autism? Genetics or the Environment? Or maybe both?"
There have been a lot of questions about the safety of the COVID-19 vaccine, especially now that it is being offered to everyone 12 and up. At first it was restricted to the elderly, now other groups are eligible. But not everyone wants the vaccine and in fact about 30% of Americans either refuse or … Continue reading "Why would you not get vaccinated?"
What babies look at during development and how much time they spend looking at people vs things has received a lot of criticism from some advocates who feel scientists should be spending less time on differences and more on practical solutions. Those two concepts are getting closer and closer and our early understandings of early … Continue reading "Eye gaze and real-life early detection tools: An interview with researchers from Duke"
What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference … Continue reading "A genetic first approach to subtypes?"
On this week’s podcast, we answer your question: “what’s the evidence of a gut-brain connection”? We can’t answer that question without starting off with a description of the microbiome. The microbiome is the colony of organisms in your gastrointestinal system that is showing increasing evidence of influencing brain function. We asked three experts: Calliope Holingue … Continue reading "You asked, we answered: what is the connection between the ‘gut’ and the brain?"
If you missed this year’s Day of Learning, the videos will be up soon. But if you are a podcast listener, you can listen a 20 minute recap on this week’s podcast. The topics included the effects of the pandemic on family functioning and clinician diagnosis and assessments, lessons learned through the pandemic, the role … Continue reading "The 2021 Day of Learning Quickie"
This week’s ASF podcast topic comes from the listeners: what is the link between ASD and ADHD? Do parents diagnosed with ADHD have a greater chance of having a child with ASD? What are the similarities and differences? And what do families need to know? We interviewed Dr. Meghan Miller from the University of California … Continue reading "You asked, we listened: what is the link between ASD and ADHD?"
Scientists who help families affected by ASD may look like they have it all together, but the pandemic has been catastrophic not just on discoveries to help families, but to the people who conduct research, meet with families, and provide services. They have lives too, and those lives have interrupted their abilities to provide care … Continue reading "Scientists: they are just like us. They are in a pandemic crisis too"
What topics have been on your mind that you would like to hear about on a podcast? Is it scientific? Theoretical? Abstract? concrete? Would you like to hear from an expert and which one? Do you not know but you want to hear more? Come at me: ahalladay@autismsciencefoundation.org and TELL me what topics are of … Continue reading "Tell us what you want, what you really really want…"
Early on in the pandemic, clinicians struggled with how to turn in-person evaluations into Telehealth evaluations. One year later: what have they done? How have they modified? How do parents feel about these changes? Should they stay or should they go? This topic will be featured on our ASF Day of Learning on April 22nd … Continue reading "How is ASD diagnosis happening right now?"
In a study over over 64 MILLION people across the US, COVID-19 has been shown to be most deadly to those with an intellectual disability. This was once a theory, now it is a proven fact. Take action! Write your governor and demand that intellectual disability and neurodevelopment disorders be put on the priority list … Continue reading "COVID-19 is especially deadly to the IDD community"
You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations … Continue reading "Ribbit…Ribbit… frogs are the new mouse of ASD research"
Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type … Continue reading "Get some zzzzzz’s"
ABA and ABA – inspired behavioral therapies like Naturalistic Developmental Behavioral Interventions are the most commonly used in autism. They have become more sophisticated in design, using control groups and implementing other ways to minimize bias. But when you put all of the data together around ABA-type interventions in a pile, are they effective? Do … Continue reading "ABA studies in ASD are not perfect"
Parents may see challenges in their kids with ASD, but they also know what is great about them and the unique gifts they bring to the world. Now, researchers from Canada have inventoried and categorized these list of great qualities in a large study of children from 3-10 years of age. These “best things” identified … Continue reading "Parents describe the “best things” about their kids with ASD"
On this week’s podcast, two new studies which explore the concept of subgroups of ASD are described. First, a “genetics-first” approach. Dr. Samuel Chawner at Cardiff University compares autism symptoms in those with copy number variants to those with no known genetic cause and asks: how similar to each other are they and can genetics … Continue reading "Better ways of subgrouping ASD?"
On today’s ASF podcast, ASF funded researcher Ileena Mitra from the lab of Dr. Melissa Gymrek at UCSD will explain a new type of “de novo” genetic mutation. Those are those spontaneous mutation that happen in kids with ASD but not parents or family members. So where did they come from? Well, this study looks … Continue reading "A new type of genetic mutation in ASD"
Everyone needs some physical activity, but people on the spectrum typically get less activity than those not diagnosed with ASD. Why? There are multiple reasons, but as it turns out it can’t all be blamed on the obvious culprit of increased screen time or video game use. Those can be reasons why teenagers get less … Continue reading "Let’s Get Some Physical Activity"
Welcome to 2021! Over the holiday break, autism researchers were busy coming up with answers to important questions: 1) how does an environmental exposure relevant to ASD change gene expression and 2) does Telehealth work and for whom? The first question was addressed by an ASF undergraduate who published in Nature. He is going to … Continue reading "Happy New Year – reasons to be excited for 2021"
This week’s podcast is the Year End Summary of scientific discoveries in 2020. Guess what leads these highlights? That’s right! The COVID-19 pandemic and the Black Lives Matter movement. Even though these events significantly affected the lives of people with autism, and will heavily influence future research directions, there were actually other important research discoveries … Continue reading "2020: These are the days we’ll remember"
What do cats, the Developmental Check-In and parent training all have in common? They all have the documented potential to help children gain emotional skills, social skills, and receive earlier intervention. A small study shows the potential of a well-tempered cat in easing symptoms of autism. Parent training has been shown time and time again … Continue reading "Potential of therapy cats, training for parents, and help for families of diverse backgrounds"
People with autism have lots of problems, and sleep is one of them. This week’s podcast explores when these problems begin, which brain areas are involved, and how autism contributes to, or suffers from, lack of sleep. Does sleep make ASD worse or are ASD symptoms causing a sleep problems? It’s not a one way … Continue reading "Which came first, ASD or sleep problems?"
There have been more than a few podcasts lately about why intellectual abilities (or disability) are important in understanding ASD. It will probably be a theme in the end of year summary. This week, intellectual ability affects risk of dying from COVID and how anxiety is measured. Some studies show that increasing cognitive ability increases … Continue reading "More on why intellectual disability matters."
Girls and boys with autism generally show the same symptoms of ASD overall, but what about different aspects of features? What would happen if you studied girls and boys separately and examined detailed assessments of things like motor skills, repetitive behavior, communication or social interaction? These are where subtle signs of differences between genders is … Continue reading "Gender difference update"
Separating out those with ASD with an intellectual disability from those with ASD without an intellectual disability can more precisely identify factors that influence probability of having a child with ASD as well as factors which can prevent or preclude services. For example, in those without an intellectual disability, there seems to be stronger heritable … Continue reading "Lumping or splitting ASD with intellectual disability? What’s the difference?"
If only 10% of people with ASD have a known genetic mutation associated with autism, what is the point? Why bother? This week we discuss why it is important for that 10%, what the benefits are, and how genetic testing may help the other 90% as well. https://www.sciencedirect.com/science/article/pii/S0002929720301130 https://pediatrics.aappublications.org/content/146/4/e20193211 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/