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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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Get some zzzzzz’s

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Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

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If you want to know about people with autism, ask them

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There are relatively few studies using self-report findings on standardized measures from people with autism.  Part of the reason for this is because there aren’t that many of these instruments to begin with.   Scientists are working on that.  But this week, a group from the UK took the existing data from smaller studies using the the Ritvo Autism Asperger Diagnostic Scale (which can be found here:  https://www.aspietests.org/raads/) to look at sex differences.  They found subtle differences between males and females on their language and sensorimotor features.  This indicates males and females experience autism slightly differently.   In addition, a different study interviewed people with autism at different ages to ask how symptoms changed over time and found that features of autism peaked in middle adulthood.  However, close family members, friends or caregivers didn’t always see it that way themselves.  This reiterates the need to collect information from multiple people – including people with autism – to provide better services and supports.

https://www.ncbi.nlm.nih.gov/pubmed/29796237

https://www.ncbi.nlm.nih.gov/pubmed/29971654

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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.