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The molecular signature of the autism brain

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Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf

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How important is the sensory system?

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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/

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What treatments are lacking sufficient evidence for autism?

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This week two new publications reported on systematic reviews for nutritional and sensory treatments for ASD.  This means the existing research was sorted, summarized, scrutinized and evaluated.  They found insufficient evidence to show any dietary or nutritional therapy was effective, but sufficient evidence that sensory integration therapy helps people with ASD.  In light of new data on heavy metals found in baby teeth, it’s important to remember that chelation is NOT effective and dangerous.  While “insufficient evidence” does not rule out these interventions forever and always, lots more needs to be done in these areas to conduct rigorous experiments that don’t have any major shortcomings so they hold up to scrutiny.

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A focus on the siblings of people with ASD

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Two studies recently add to an ever growing literature around undiagnosed siblings of individuals with autism.  While in autism features there is evidence of the “broader autism phenotype” in female siblings, there is no evidence of elevated sensory symptoms in those with a brother or system with autism.  The more we understand about the psychological and psychiatric features of siblings with autism, the more they can be supported to deal not only with their siblings challenges, but with theirs as well.

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Using different types of sensory issues for good

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Screen Shot 2016-05-03 at 12.07.13 PMMost people with autism have some sort of sensory issue. This week, researchers at University of Wisconsin and University of North Carolina create new categories of sensory challenges in people with autism to figure out if they can predict functioning. The story is complicated (isn’t it always) but the findings that certain sensory subtypes lead to different adaptive outcomes. This information will help different groups people with autism rather than lumping them together. Also, this podcast discusses new findings on the risk of psychiatric problems in siblings of people with an autism diagnosis. Normally the literature focuses on people with autism, and as it turns out, siblings need extra attention as well.

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Rare vs. common genetic variation in autism? They are both right.

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This week’s podcast summarizes a new study which finds that in some people with autism, it takes just a few small mutations in a few key autism genes to lead to a diagnosis.  This is called the ‘rare variation theory’, but while it has been pretty well established, researchers still don’t know where these gene mutations come from.  A new joint ASF/AS/Escher Fund online symposium on October 1st from 1-3PM EST explores this issue.  Register here:

http://www.autismsciencefoundation.org/news/free-webinar-interaction-enviornment-and-genetics-autism-october-1st

Also, detecting early signs and symptoms is the key to intervening at a key critical time in brain development.  These early signs include stereotypy and sensory symptoms and patterns of these behaviors are different in people with autism.  How?  Listen to the ASF podcast to hear more.