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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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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/

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The true title should be: “A new open source screening tool to help detect autism”

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Many of the existing tools to identify autism cost money or are not specific for ASD, and they are hidden behind paywalls and are hard to obtain. A group of scientists led by Tom Frazer at John Caroll University put together a 39 questionnaire called the Autism Symptoms Dimensions Questionnaire to be filled out by parents of children. It’s free and open source! But that’s just the first step. The media got the intent wrong, yet again.

It should not replace a full diagnosis. Autism is complex, and even those with genetic forms of autism show heterogeneity in symptoms. They each need comprehensive evaluations. But this is a good start. Check it out here!!! It’s open source:

References below:

https://pubmed.ncbi.nlm.nih.gov/36670671/

https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.15497

https://pubmed.ncbi.nlm.nih.gov/36639821/

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Autistic Black Lives Matter

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Racial and ethnic disparities in autism care is not new, the lower age of diagnosis and lack of care for these families have been reported for years. While they have always been unacceptable, in light of recent events, it’s time to reconsider what scientists should be doing about them. A systematic review identifies what is going on with regards to access to interventions and their efficacy. Another study successfully collaborates Part C Early Intervention providers to reach families of color to improve screening. And finally, researchers not even focused on autism provide a perspective on how far and wide this problem reaches. Autism Science Foundation maintains their commitment to working together with other organizations to eradicate these disparities once and for all.

http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=32238530

https://doi.org/10.1007/s10803-020-04429-z

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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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If you can make it there, you can make it anywhere: preparing early interventions for the community

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This week two groups of heroes of autism research published studies that may not be the type of major breakthrough that the media reports on, but they are more important to families:  These studies help translate what works in the research clinic into the community.  Specifically, is it even possible, how, and what do families need to know when they receive an intervention that has yet to be “field tested”.  This is a whole field of research called implementation science, and it deals with how scientists and community services implement what is learned in research settings into real world settings.

https://www.ncbi.nlm.nih.gov/pubmed/31206690 

https://www.ncbi.nlm.nih.gov/pubmed/31241851

 

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Old exposures, new diagnoses and more efficient screening for toddlers

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This week, two important studies came out on different topics in autism research.  In the first study, an exposure which has been around for decades, PCB’s, a toxic industrial chemical which has been banned from manufacture or use for the past few decades, was linked to autism.  This dispels the myth that only exposures that have been introduced since the observance in the rise in diagnoses are relevant for study.  First author Kristen Lyall gives her perspective. Here is a website on how to avoid PCBs even though they have been banned.

Second, screening for autism in pediatricians offices has always been challenging.  Patients get 10 minutes at most with their doctor, these doctors have to fit in an hours worth of assessments in this time.  So how can you get them to conduct a screening for autism and add in extra questions?  Kennedy Krieger Institute published on a way that seems to work without sacrificing quality.  Hear more about both on this week’s podcast.

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Managing real life autism situations.

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Compared to researchers, community clinicians don’t have time for the same rigorous training on the standard autism diagnostic instrument called the ADOS, so can they still do it as well?  Or does this group not have the resources they need to use it properly?  Also, because psychiatric hospitals don’t see as many people with autism as they used to, a group of child psychiatrists got together and wrote guidelines for what to do if a child with autism showed up at the general inpatient ward.  These are things that face families in the real word, and we thought you should hear about new science around them.