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How does autism prediction work?

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This podcast provides updates on studies that help with prediction of an autism diagnosis – which is important for preparing for the future and for intervening early. First, a study that uses environmental factors to create an equation for the probability of a diagnosis following a combination of of non-genetic factors only which does a fairly good, but not perfect, job at predicting a diagnosis. Second, a study that looks at the accuracy of a machine that predicts autism from eye gaze as early as 9 months of age and with only a 2 minute test. This one wasn’t as accurate as the one that takes longer and tests older kids, but it’s a first step. No ONE thing does a perfect job at predicting a diagnosis – it’s going to be a combination of things, tested over time and multiple times that will be most helpful at predicting a diagnosis. Both studies are open access!

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904522/pdf/fpsyt-15-1291356.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38429348/

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Speak now

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Those who are minimally verbal or non speaking represent about 25% of those with an autism diagnosis, yet there is really a lack of effective interventions for this group of autistic individuals. It used to be that everyone who was non-speaking was thought to have minimal ability to understand language, since understanding and speaking are so linked in development. However, group at Boston University studied the largest group of non-speaking autistic individuals so far and discovered that about 25% of them understand more language than they can speak, although this ability is still far lower than those who are neurotypical. The other 75% understand about as much as they can communicate verbally. This indicates that in some cases, the ability to understand words and their meaning exceeds the ability to communicate those ideas verbally. Surprise surprise, just like everything autism – there are differences across the spectrum. Thanks to Yanru Chen at Boston University for explaining the study to us.

https://onlinelibrary.wiley.com/doi/10.1002/aur.3079

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Nobody ever talks about catatonia

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Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

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How many people can be described as having “profound autism”?

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Quick answer: 26.7%. But what is “profound autism” and why is this label necessary? Have the rates of profound autism changed over time? How many do not have profound autism and are their needs different and how? Listen to this week’s ASF podcast and read the paper here: https://autismsciencefoundation.org/wp-content/uploads/2023/04/CDC-Profound-Autism-Statistics_ASF-Copy.pdf

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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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A 2022 Day of Learning Quickie

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This year’s Day of Learning was a huge success, with topics ranging from biological sex differences to mobile technologies all the way to the importance and documented value of leisure activities in people on the spectrum. the speakers included a discussion of the IACC, sex differences, the value of prevalence data, mobile technologies, leisure activities, and a recognition of two advocates who made or make a difference in families: Samantha Els and Suzanne Wright. Listen to this week’s podcast for a quickie, but don’t let it prevent you from watching the longer videos, a link to which can be found below

www.babynavigator.com

www.autismnavigator.com

Day of Learning
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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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Talk talk talk…..it may make a difference to your infant

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Children and infants who later go on to have an autism diagnosis show impairments in communication. Is there anything that parents can do? Yes! Talk. Talk in complicated sentences. Talk responsively and keep it up. This isn’t always an inherent skill, it’s learned, and in this podcast we talk about the biological basis of why infants with ASD are more sensitive to verbal input, how hyposensory features are involved and what you can do to improve your verbal responsiveness that needs to be different for your child with ASD

https://pubmed.ncbi.nlm.nih.gov/34128355/

https://pubmed.ncbi.nlm.nih.gov/34185234/

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Don’t say “….all autistic adults”

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While there are commonalities across autistic adults on many things, they differ. It might be time to stop saying “…..all autistic adults” when describing those on the spectrum. For example, for the most part, most autistic adults prefer email or text over other methods except when talking to friends and family. It was not universal, but the most preferred methods. This is important for scientists to want to gather the input from autistic adults – use email and online surveys NOT the telephone. But even these online surveys have problems. Large online research studies have the advantage of gathering large sets of data from geographically diverse people in a short period of time, but they may be biased if they don’t report who answered them. Recommendations for how to at least deal with diversity in scientific literature is included.

https://pubmed.ncbi.nlm.nih.gov/34169750/

https://pubmed.ncbi.nlm.nih.gov/34169230/

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This one’s for the girls

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In this week’s podcast, I semi-plagiarize from a recent summary of sex differences in ASD, written by Drs. Meng-Chuan Lai and Peter Szatmari from the University of Toronto.  They delve into why more males are diagnosed with females, and differences in the presentation of those features of ASD that differ between males and females.  These include camouflaging, differences in language style, differences based on behaviors determined by sex, and associated features like anxiety and internalizing behaviors.  Thank you to the authors for putting together the information in a way that makes sense.

https://www.ncbi.nlm.nih.gov/pubmed/31815760

https://www.ncbi.nlm.nih.gov/pubmed/30962869