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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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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 of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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No-one who cooks, cooks alone

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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. She discusses the scientific literature on why cooking improves eating habits and builds confidence.

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Is anxiety related to autism, and where is it in the brain?

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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 summarized this week. It shows that the amygdala is important, that some features of anxiety are core to ASD and some are separate, and it is related to autism features like insistence on sameness. This has implications for how anxiety is diagnosed and treated in those with ASD.

https://pubmed.ncbi.nlm.nih.gov/35871413/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116934/?report=printable

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Why developmental milestones are so telling

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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 autism have different experiences based on some commonalities. But all people with autism showed a delay in many milestones. They are important for understanding people with autism, changes across time in the diagnostic criteria, and their impact on later abilities.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2794306?utm_campaign=articlePDF&utm_medium=articlePDFlink&utm_source=articlePDF&utm_content=jamapediatrics.2022.2423

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The earliest differences across ASDs

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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 number of cells, as well as the ability of those cells to signal to each other once they are formed. Some autism brains have too many cells, others do not proliferate as quickly as typical developing cells. These things are somewhat dependent on the genetic background which controls head size.

While these different forms of autism all have differences in proliferation, sometimes in different directions, they are all altered, regardless of the genes involved. So, is this one basic biological features that may help identify autism from the earliest points in development? Since they can be studied at any time in life, is this a new biomarker? Should they be used to better understand different subgroups? Much needs to be studied but please listen to this week’s ASF podcast with Dr. Robert Connacher to learn more about the studies going on at Rutgers University to examine this issue.

https://www.sciencedirect.com/science/article/pii/S2213671122002089

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Let’s talk about poop

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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 with NDD’s and GI issues. Go to www.candidgi.com to watch the full set of presentations by scientists, families, and advocates.

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Little things to help the autism community

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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 with autism, especially technology which can be adapted to address the heterogeneity across the spectrum. And what about more subtle changes in the environment like light, sound, the built environment in classrooms and the home? Are there things that can be done that should be taken into account when these things are being built or modified? Again, a review article can help decipher all of the little studies that have been published over the year. Listen to specific recommendations for builders, architects, and even you as you make your home more autism friendly.

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269800

https://journals.sagepub.com/doi/10.1177/13623613221102753?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

https://lukerosen212.medium.com/the-supreme-courts-decision-impact-on-the-rare-genetic-disease-community-f9ac22bd1411

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Is autism a yes/no diagnosis?

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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 way. Ignoring the actual diagnosis, if the data is clustered together around how symptoms present, what happens? What does that mean for some of the longest standing research findings in ASD? For example, using this new approach which ignores and actual diagnosis, are more males are diagnosed than females? As it turns out, it equals out these ratios. What does this mean? Listen to this week’s podcast to hear directly from the first author, Catherine Burrows!

https://www.sciencedirect.com/science/article/abs/pii/S0006322322013130?casa_token=ZFZpvnUOIBkAAAAA:G667QIkX_Vd6JPeWvIPABo1FPrdNL_3IiW-ajy7xR2Nme_I4ztOEf2xJ4FyhGHTMgrb8Lqq6Og

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Hybrid is Most Helpful

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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 this resiliency. Finally – why are some autistic people still not getting vaccinated?

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126276/

https://pubmed.ncbi.nlm.nih.gov/35579789/

https://pubmed.ncbi.nlm.nih.gov/35575840/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088649/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023320/

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Pasta, music pieces and pills

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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 help in other ways.

https://www.jaacap.org/article/S0890-8567(22)00198-8/fulltext

https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD004381.pub4/full

https://www.sciencedirect.com/science/article/abs/pii/S0891422222000890?via%3Dihub