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The Transcription Factor Song

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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

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Father of mine

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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

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We need more psychiatrists with expertise in autism

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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

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Biology of profound and non-profound autism

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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

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Are Naturalistic Developmental Behavioral Interventions controversial?

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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

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Rest in Power Jim Simons

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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.

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What happens to premature infants as they get older?

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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

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Research for the end of Autism Action Month

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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

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Machine Learning in Autism, Explained

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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.

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Autism Self-Diagnosis Tools

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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/