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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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When it comes to intervention, earlier is better

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This week, we talk to Whitney Guthrie from Children’s Hospital of Philadelphia who spent the last 6 years conducting the gold-standard randomized control trial that demonstrates intervention for social communication skills at 18 months shows greater effects than intervention starting at 27 months. If you wanted evidence that earlier is better, here it is! Interventions and supports are important at any age, but the critical window of development between 18-27 months is particularly important for long term development.

https://pubmed.ncbi.nlm.nih.gov/36922406/

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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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Here’s what you won’t hear about that new JAMA study on Twitter

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A couple of weeks ago, a group in Australia published a study that investigated the efficacy of a “preemptive” intervention. That is, what happens if you provide support to parents to improve social communication, interaction and skills in infants before a diagnosis can be made? The results have a lot of meaningful implications of what interventions are possible at this age, how they can be delivered, and what it means to NOT receive an autism diagnosis but still show challenges. But the Twitter hive didn’t perceive it that way. This week I explain what the study did and didn’t do, and how it can help people across the spectrum.

Open access here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453361/

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Eye gaze and real-life early detection tools: An interview with researchers from Duke

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What babies look at during development and how much time they spend looking at people vs things has received a lot of criticism from some advocates who feel scientists should be spending less time on differences and more on practical solutions. Those two concepts are getting closer and closer and our early understandings of early autism features are now turning into applications to help better and earlier identification of ASD. This week, we talk to Geri Dawson and George Chang at Duke University who used these findings to piloted an app on an iPad. This app shows early promise of being used in a pediatricians office to support faster referral of toddlers for services and intervention.

https://pubmed.ncbi.nlm.nih.gov/33900383/

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The AAP Empowers Pediatricians to Help Kids with ASDs

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Thank you to the American Academy of Pediatrics for publishing an updated guide for their 67,000 members about identification, evaluation and management of children on the autism spectrum.  Pediatricians have a lot of things going on every day and could use a primer, or a condensed guide, on what the basic level of care should be for kids and families affected by ASD.  Here, thanks to Drs. Susan Hyman, Susan Levy and Scott Myers, from the council of the AAP on children with disabilities, they have one.  This podcast will summarize the main points of what the guidance document says.  Please download it and share it by clicking here:  https://pediatrics.aappublications.org/content/pediatrics/early/2019/12/15/peds.2019-3447.full.pdf 

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Keep on Screening for ASD

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This week, a little longer #ASFpodcast on a topic that deserves a little extra attention:  screening for ASD.  Some media click-bait driven headlines have made it seem like screening for autism is a waste of time for parents, doctors and care providers.  That’s FAKE NEWS!   We talk to Whitney Guthrie from CHOP and Diana Robins from Drexel about recent studies that cast doubt on common screening tools, why doctors may not be administering them the same way all the time and how that makes a difference, the importance of screening and data that shows that it does help toddlers with ASD maximize their full potential.

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Where superior ability crosses disability in ASD

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A study conducted by researchers at Yale this week revealed that while people with autism have disabilities in reading individual emotions, they have an unexpected amazing ability to understand and apply social rules to groups of people.  They understand social phenomena much better than those without. So how can this be?  Also, a new groundbreaking study shows scientists that there are changes in brain activity that are observed way before a diagnosis, which can change early detection and early intervention of ASD.

http://www.pnas.org/cgi/pmidlookup?view=long&pmid=31501348

https://www.ncbi.nlm.nih.gov/pubmed/31519897

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The extra benefit of caregiver mediated interventions

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This week, a new systematic review published by researchers at Virginia Polytechnic Institute looked at the existing evidence around caregiver (parent) mediated interventions and not child outcome, but family relationships and dynamics. While it isn’t the focus on the intervention, what effect does allowing parents to be involved and empowered on their child’s support on the wider family?  The answer is, it does help, although not all interventions are the same.  Also, a new video tool from collaborators at Washington University and the UC Davis MIND Institute to help parents identify early signs and symptoms in their own children was validated, which is exciting but more work needs to be done.