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404 - Health Concerns Across 3 Generations
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- 404 - Health Concerns Across 3 Generations
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-Figure5Mon, 11 Nov 2024 - 24min - 403 - Stigma experienced around the world
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.2652Sun, 03 Nov 2024 - 16min - 402 - The Importance of Model Systems
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-modelsMon, 28 Oct 2024 - 36min - 401 - Where is autism stigma the worst in the world?
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&el=1_x_3&_esc=publicationCoverPdfSun, 20 Oct 2024 - 17min - 400 - Factors That Influence Heterogeity and How
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/s13229-024-00613-5Sun, 13 Oct 2024 - 34min - 399 - Post-Pandemic Problems
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/39228920Sun, 06 Oct 2024 - 14min - 398 - Catching up with CANDID
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
Sun, 29 Sep 2024 - 10min - 397 - Mysteries of the Microbiome
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/
Sun, 22 Sep 2024 - 396 - More about the environmental influences in autism
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.2406928121Sun, 08 Sep 2024 - 15min - 395 - Dealing with an ER visit
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-forSun, 18 Aug 2024 - 16min - 394 - Profound Autism: The first meaningful autism subgroup
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
Mon, 12 Aug 2024 - 28min - 393 - What happens during sleep?
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.eduMon, 05 Aug 2024 - 25min - 392 - What do Profound Autism Caregivers Need?
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
Mon, 29 Jul 2024 - 29min - 391 - Recurrence rates for families with an ASD child
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/38973707Sun, 21 Jul 2024 - 14min - 390 - Alison Singer appears on @LifeWithTheSpectrum
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.Mon, 15 Jul 2024 - 19min - 389 - Culturally sensitive care with Mia Kotikovski
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-specialistsSun, 07 Jul 2024 - 14min - 388 - Breakthrough for those with rare genetic disorders
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/38877467Sat, 29 Jun 2024 - 12min - 387 - The Transcription Factor Song
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
Sun, 23 Jun 2024 - 20min - 386 - Father of mine
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
Mon, 17 Jun 2024 - 11min - 385 - We need more psychiatrists with expertise in autism
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/38782841Mon, 10 Jun 2024 - 43min - 384 - Biology of profound and non-profound autism
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#Sec26Sun, 02 Jun 2024 - 12min - 383 - Are Naturalistic Developmental Behavioral Interventions controversial?
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 PathwaysBooks/Manuals: ESDM, PRT, JASPER, EMTMon, 20 May 2024 - 19min - 382 - Rest in Power Jim Simons
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.Mon, 13 May 2024 - 16min - 381 - Autism Self-Diagnosis Tools
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/Mon, 15 Apr 2024 - 31min - 380 - What happens to premature infants as they get older?
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/s41372-024-01942-2Mon, 06 May 2024 - 31min - 379 - Research for the end of Autism Action Month
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/s41586-024-07310-6Sun, 28 Apr 2024 - 14min - 378 - Machine Learning in Autism, Explained
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
Mon, 22 Apr 2024 - 39min - 377 - The 2024 Day Of Learning Quickie
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/respondSun, 07 Apr 2024 - 17min - 376 - The Trouble with Transitions
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-kitMon, 01 Apr 2024 - 11min - 375 - “What is Profound Autism?” with Matt from the podcast Behavioral Observations
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
Mon, 25 Mar 2024 - 52min - 374 - Missed the Meeting on Language in Autism? Listen to this podcast
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.
Mon, 18 Mar 2024 - 21min - 373 - How does autism prediction work?
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/Mon, 11 Mar 2024 - 10min - 372 - What is the IACC and what do they do?
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/tCy86LkSun, 25 Feb 2024 - 48min - 371 - Are new ICD-11 criteria for an autism diagnosis too vague?
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-ySun, 11 Feb 2024 - 31min - 370 - Learn about your infant’s development from your own home
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.
ChildrenHelpingScience
sites.duke.edu/risebatterySun, 04 Feb 2024 - 19min - 369 - How do you solve a problem like aggression?
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/Sun, 28 Jan 2024 - 12min - 368 - Speak now
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 so linked in development. However, group at Boston University studied the largest group of non-speaking autistic individuals so far and discovered that about 25% of them understand more language than they can speak, although this ability is still far lower than those who are neurotypical. The other 75% understand about as much as they can communicate verbally. This indicates that in some cases, the ability to understand words and their meaning exceeds the ability to communicate those ideas verbally. Surprise surprise, just like everything autism – there are differences across the spectrum. Thanks to Yanru Chen at Boston University for explaining the study to us.
https://onlinelibrary.wiley.com/doi/10.1002/aur.3079
Sun, 21 Jan 2024 - 22min - 367 - How to predict severe and dangerous behavior
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 can be predicted up to 3 minutes before an episode occurs, in the future these measures can be used to possibly redirect aggression. In a separate study, the issue of stigma is addressed. There is an intense debate over “person first” vs. “identity first” language in autism, promoting recommendations of using one over the other because fear that person first language promotes stigma against autism. A new study shows that there is no added prejudice or fear using either person first or identity first language, but the stigma associated with schizophrenia is worse than it is for autism. What contributes to stigma? There is a wide range of experiences and perceptions of autism that need to be addressed. It’s not as simple as the language used.
https://pubmed.ncbi.nlm.nih.gov/38127348/
https://pubmed.ncbi.nlm.nih.gov/37965364/
Mon, 08 Jan 2024 - 14min - 366 - The ASF Year End Review of Science
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 around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.
You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/Wed, 27 Dec 2023 - 22min - 365 - What’s the latest on minocycline for autism?
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 showed NO effects of minocycline for autism features or outcomes, but that doesn’t mean it is NOT a great antibotic. If you need it, use it! Also, do autistic people spend too much time on their screens? Well, they seem to spend more time on devices and screens, but it might all be bad. Listen to the podcast for more information on this.
https://link.springer.com/article/10.1007/s10803-023-06132-1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10709772/?report=printableSun, 17 Dec 2023 - 12min - 364 - In support of AFAB
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 can be implemented in everyday care. To read the article in it’s entirety, click here: https://authors.elsevier.com/c/1i5LV8Mut2MzvbSun, 03 Dec 2023 - 52min - 363 - Waitlists for waitlists
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 from Cognoa to hear about their recent study on the scope of the problem on waitlists, what causes them, and how digital therapeutics may help them.
Waitlist Crisis Report
Sun, 19 Nov 2023 - 51min - 362 - Nobody ever talks about catatonia
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 disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.
https://pubmed.ncbi.nlm.nih.gov/37864080/
https://pubmed.ncbi.nlm.nih.gov/37642312/
https://pubmed.ncbi.nlm.nih.gov/36708735/
https://globalgenes.org/rare-disease-patient-services/Mon, 06 Nov 2023 - 24min - 361 - Contemplating “syndromic autism”
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 autism in predicting and treating other conditions that someone with autism may have, and why the words “syndromic autism” may need to be updated to describe a subgroup of autism.
https://pubmed.ncbi.nlm.nih.gov/37330697/
Below is the Figure 1 that Dr. Scherer refers to:
Sun, 22 Oct 2023 - 38min - 360 - Little Brains Answer Big Questions
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 many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.
Open access! https://pubmed.ncbi.nlm.nih.gov/37758944/Sat, 14 Oct 2023 - 34min - 359 - Resilience and heterogeneity in ASD
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 variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/pdf/41591_2023_Article_2408.pdfMon, 02 Oct 2023 - 34min - 358 - All who wander are not lost. But many are lost and need help.
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 it be mitigated or understood? Some behavioral therapies are helpful, but new technologies have allowed for more options to bring back loved ones that have run off unexpectedly. Finally, the community needs to be better aware of possible stressors or triggers that trigger a wandering episode and work together with families to prevent running off. This problem is not caused by one thing, and the community needs multiple solutions to keep kids and adults safe.
www.september26.org
https://pubmed.ncbi.nlm.nih.gov/37492814/
https://pubmed.ncbi.nlm.nih.gov/32576789/Mon, 25 Sep 2023 - 11min - 357 - Now you know the reason for decades of eye tracking research
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/Sun, 10 Sep 2023 - 22min - 356 - Support for Siblings during COVID
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-0032Mon, 28 Aug 2023 - 9min - 355 - Tik-Tok for autism information? Nope
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 taken just as seriously. There are billions of inaccurate posts being viewed, and misinformation spread. On this week’s podcast, all four authors of this paper summarize what they found and what families should know.
https://pubmed.ncbi.nlm.nih.gov/37544970/
Sun, 20 Aug 2023 - 41min
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