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The Science of Screeners for ASD

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Screening for autism is meant to cast a broad net to gather those who show enough features to be included for a full diagnostic evaluation. The most common of these tools is the MCHAT – the Modified Checklist for Autism in Toddlers. An author of the MCHAT, Diana Robins, and a colleague, Andrea Wieckowski and others gathered over 50 studies (English and other languages) in different types of samples (high likelihood and low likelihood) to determine how the MCHAT was doing in terms of finding infants with autism as well as excluding those without autism. It also touched on how well primary care doctors were doing in administering this tool. If you want to see the MCHAT for yourself or take it for your child, there is a FREE website, click here: https://mchatscreen.com

To read the paper, click here: https://pubmed.ncbi.nlm.nih.gov/36804771/

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Is it co-morbid or co-occurring?

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A new paper in Translational Psychiatry this week outlines the reasons why some conditions that occur with autism are actually co-morbid, and not co-occurring. The podcast will break down clues on why sometimes they are co-morbid, and present an argument on why they are important in understanding the vast heterogeneity of autism.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2898

https://www.nature.com/articles/s41398-023-02374-w

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Animal models can explain heterogeneity

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Just like no two people are the same, no two strains of mice are the same. Using dozens of different strains of mice with and without a genetic mutation associated with autism called CHD8, researchers at University of Southern California showed great variability in the effect of this mutation on behaviors associated with neurodevelopmental disorders. This can reflect the great differences across people with autism and even people with a rare genetic syndrome associated with autism. It isn’t just one gene, it’s the other hundreds of genes that can contribute to susceptibility or resilience to different features of NDDs. One thing this study did not do was overlay environmental factors, which will also significantly influence the variability seen across the different background genetics in these mice.

https://pubmed.ncbi.nlm.nih.gov/36738737/

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What’s Quality of Life Got To Do With it?

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This week’s #ASFpodcast highlights a new study from Dr. Elizabeth Kaplan-Kahn, who is improving a measure of Quality of Life for autistic individuals who are minimally verbal or have cognitive disabilities. These individuals may have different outcomes as other autistics, but their responses are just as important. Dr. Kaplan-Kahn talks about what it means, how it is related to other outcomes collected, and what’s she’s doing to improve Quality of Life measures.

She working to do this through scientific study! If you or a family member is non-speaking or cognitively disabled, and want to help with improving measures of Quality of Life, click here: https://redcap.link/pablid

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A potential biomarker to AID, not MAKE, a diagnosis

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The media has just called another biological marker a “diagnostic test”, when in this case, it was always intended to be an aid, not a test itself. It involves using baby hair strands to look a variation in metabolism of certain chemical elements across time. Remarkably, it showed similar results in autistic children in Japan, the US and Sweden. It’s not ready to be used as a diagnostic test, so what is it supposed to do? Listen to an interview with the inventor and researcher, Dr. Manish Arora from The Icahn School of Medicine at Mt. Sinai School here.

The full article (open access) can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740182/

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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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Can you say strengths and deficits at the same time?

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People tend to go towards a “strengths only” or “weaknesses only” approach to describing autism. But even if you think about a single aspect of autistic challenges – social communication – autistics can show both. How can you measure this, and even more importantly, document it to play to someones strengths while addressing their impairments at the same time? Special guests Dr. Matthew Lerner and Jacquelyn Gates from Stony Brook University explain how this can be done by clinicians.

https://pubmed.ncbi.nlm.nih.gov/36573397/

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The full semantic toolbox referring to autism

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Last week a publication (see below) was published as a commentary in the journal Autism Research. It states that researchers, parents, clinicians, educators and the overall community should not be limited in their use of language to describe the broad condition of autism. Some people experience impairments, deficits, and have limitations. Not only is it true, we should be talking about it. This podcast describes the motivation for the paper and the potential consequences of mandating the use terms that may not accurately reflect the diversity of experiences. While some papers have been published with the opposite sentiments, it’s important to understand both sides of this debate. We hope this paper leads to further conversation about this topic.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2876

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One key to better mental health: cognitive flexibility

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Stressful life events, among other things, affect autistics more than those who are typically developing. Why? What would cause this vulnerability? New studies suggest that cognitive inflexibility may be the key. Autistic people tend to have problems with cognitive flexibility. As a whole, they show problems with flexible thinking, changing direction and being adaptable to new situations. This is clearly tied to insistence on sameness, a core feature of ASD. Can anything help? Research needs to look at the link between improving cognitive flexibility and mental health, but in the meantime, there are things that can be done to improve skills in this area. Check out a few below.

https://pubmed.ncbi.nlm.nih.gov/36196666/

https://pubmed.ncbi.nlm.nih.gov/36113122/

https://researchautism.org/cognitive-flexibility-keeping-thinking-limber-and-flexible/
Cognitive Rigidity in Autism