ASF Weekly Science Podcasts: Recent Episodes
Autism Science Foundation
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 discusses challenges in getting emergency care for those with autism, what doctors and hospitals can do to ease the stressors associated with places like the ER. This is a huge issue for families as many “simple” ER visits for their autistic family members can cause such stress it provokes severe reactions, especially in those with sensory issues, intellectual disability or those who cannot express their pain.
https://publications.aap.org/pediatrics/article/137/Supplement_2/S205/34011/Toward-Practice-Advancement-in-Emergency-Care-for
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, listen to Alison Singer with Gina Kavali on her podcast @LifeWiththeSpectrum. Alison talks about the importance of autism research and science in general, and how families can get involved.
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
Autistic individuals are turning to self-diagnosis to explain their autism features, sometimes based on better awareness, sometimes based on what they see on social media. But how accurate are these autism diagnostic tools? They range anywhere from tik-tok videos all the way to a tool called the RAADS-R which has been described as a valid diagnostic measure. Unfortunately, as discussed by scientist Alexandra Sturm who looked closely at what this tool measures, it’s probably not a true diagnostic measure. However, diagnosis for adults is hard to obtain, Dr. Sturm provides suggestions on what to do if you are curious about an autism diagnosis and don’t know where to turn.
The RAADS can be found here: https://embrace-autism.com/raads-r/
https://www.tandfonline.com/doi/full/10.1080/09515089.2024.2327823
https://pubmed.ncbi.nlm.nih.gov/38305196/
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
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 manage a little better. Can it work outside the pandemic? There are certainly other situations where siblings could use a little more support.
https://pubmed.ncbi.nlm.nih.gov/36460184/
https://link.springer.com/article/10.1007/s10803-022-05500-7
https://onlinelibrary.wiley.com/doi/10.1002/aur.2987
https://onlinelibrary.wiley.com/doi/10.1002/aur.2987#aur2987-bib-0032
In a highly discussed paper, researchers from Drexel University report their findings on a scientific and methodologically rigorous study on the accuracy of information posted on the social media platform Tik-Tok. They also discuss where the information comes from and how it is viewed. The accurate and inaccurate posts get “liked” equally, meaning they are … 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 flexible
Cognitive 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 … Continue reading "The molecular signature of the autism brain"
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 … Continue reading "Can we solve the pandemic problems around diagnosis and intervention?"
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! … Continue reading "Genetic confounding plus organoids"
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 are so great. No overall theme, just information we hope you can use.
https://www.ijidonline.com/action/showPdf?pii=S1201-9712%2822%2900048-0
https://link.springer.com/content/pdf/10.1007/s10803-021-05405-x.pdf
https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2788262
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 still early, parents can be amazing partners in intervention especially below age 5. The provide opportunities for learning and communication, and they can utilize more hours during the day at home than traditional in-clinic services can. Of course not every family is the same and may not have the same abilities to learn the intervention, and in the future more of these contextual factors need to be studied. But for now, three cheers for parents helping their kids!
https://pubmed.ncbi.nlm.nih.gov/34867556/
https://pubmed.ncbi.nlm.nih.gov/35037520/
https://pubmed.ncbi.nlm.nih.gov/35040001/
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 relevant materials, and future research directions need to be focused on? The conversation included ways to battle stigma, improve provider relationships, recruit a more diverse sample in research and fund those underrepresented scientists who want to study autism. As a note, ASF will be releasing their undergraduate fellowship mechanism on Tuesday which will focus on underrepresented groups.
https://pubmed.ncbi.nlm.nih.gov/34979034/
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 unify those with autism compared to those with developmental delay. Are there treatments outside of environmental supports to help sensory issues? There could be: a drug that tried and failed to treat other features of autism called arbacolfen supports the idea that this drug target could be helpful in treating sensory issues.
https://pubmed.ncbi.nlm.nih.gov/34985973/
https://pubmed.ncbi.nlm.nih.gov/34967132/
https://pubmed.ncbi.nlm.nih.gov/34873147/
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 read the full summary here:
The Year in Review, 2021
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. They also called for the label of “profound autism” which describes individuals with very different outcomes compared to those who have a higher verbal and cognitive ability. Recognizing everyone needs supports and help, the “profound autism” label needs different supports, like different employment situations and different living accommodations. Thankfully, to authors, Dr. Catherine Lord from UCLA and Alison Singer from ASF explain the article and the impact they hope it makes on the field.
The article is open access but you have to register to download a copy, here: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)01541-5/fulltext
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 the functioning of the child and of course, when the questions were asked. Some used a “pre vs. during” pandemic design and some used a case-control design. But altogether, you can learn about the variation across families and across the world on this week’s #ASFpodcast.
https://pubmed.ncbi.nlm.nih.gov/34591373/
https://pubmed.ncbi.nlm.nih.gov/34591364/
https://pubmed.ncbi.nlm.nih.gov/34657487/
https://pubmed.ncbi.nlm.nih.gov/34776249/
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 and strengths of autism as it has changed over time, as well as intervention styles to meet the expanding understanding of autism. You can read the paper below, but Dr. Vivanti gives a great summary in a 30 minute interview!
https://pubmed.ncbi.nlm.nih.gov/33491120/
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 work with common variants. What are rare and common variants? How do they influence a genetic diagnosis? And what does this mean for the future of genetics in ASD? Listen to Dr. Behrang Mahjani at Mt. Sinai School of Medicine who authored two recent publications on the topic.