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Is autism a yes/no diagnosis?

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This week’s podcast highlights a paper from the IBIS (infant brain imaging study) that tracks infants from 6 months to 5 years of age to examine how ASD symptoms cluster together. These infants either have a diagnosis or they don’t, or they have something which doesn’t meet diagnostic threshold but is still impairing in some way. Ignoring the actual diagnosis, if the data is clustered together around how symptoms present, what happens? What does that mean for some of the longest standing research findings in ASD? For example, using this new approach which ignores and actual diagnosis, are more males are diagnosed than females? As it turns out, it equals out these ratios. What does this mean? Listen to this week’s podcast to hear directly from the first author, Catherine Burrows!

https://www.sciencedirect.com/science/article/abs/pii/S0006322322013130?casa_token=ZFZpvnUOIBkAAAAA:G667QIkX_Vd6JPeWvIPABo1FPrdNL_3IiW-ajy7xR2Nme_I4ztOEf2xJ4FyhGHTMgrb8Lqq6Og

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How is ASD diagnosis happening right now?

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Early on in the pandemic, clinicians struggled with how to turn in-person evaluations into Telehealth evaluations. One year later: what have they done? How have they modified? How do parents feel about these changes? Should they stay or should they go? This topic will be featured on our ASF Day of Learning on April 22nd as well. Also COVID related, new data on the effects of maternal immune infection on autism outcomes in children – with a bright light at the end of the story. At least a bright light at some maternal infections. Listen to the opening song and keep on “staying away”.

https://pubmed.ncbi.nlm.nih.gov/33730320/

https://pubmed.ncbi.nlm.nih.gov/33720503/

https://www.nature.com/articles/s41593-020-00762-9

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Parents describe the “best things” about their kids with ASD

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Parents may see challenges in their kids with ASD, but they also know what is great about them and the unique gifts they bring to the world. Now, researchers from Canada have inventoried and categorized these list of great qualities in a large study of children from 3-10 years of age. These “best things” identified and counted across ages should also be used when planning how to transition kids with ASD from EI or preschool into kindergarten. Another study included this week from Curtin University in Australia describes how parents see this process becoming a lot easier.

https://pubmed.ncbi.nlm.nih.gov/33532881/

https://pubmed.ncbi.nlm.nih.gov/33520781/

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Better ways of subgrouping ASD?

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On this week’s podcast, two new studies which explore the concept of subgroups of ASD are described. First, a “genetics-first” approach. Dr. Samuel Chawner at Cardiff University compares autism symptoms in those with copy number variants to those with no known genetic cause and asks: how similar to each other are they and can genetics be a way to subgroup? Second, the UC Davis MIND Institute explores the specificity of a subgroup of ASD based on presence of autoantibodies in mothers. Should there be a mix of the two and how do families interpret these findings? Listen here:

https://pubmed.ncbi.nlm.nih.gov/33384013/

https://pubmed.ncbi.nlm.nih.gov/33483694/

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The autism brain at 3 months old

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Biological features of ASD can be seen long before behavioral impairments in children are seen. Researchers are now studying the activity of the brain at 3 months in infants that go on to develop autism and those that do not. There are distinct features in the brain seen in a 3 month old that goes on to develop ASD. In addition, excessive brain activity resulting in seizures can increase the probability of a later ASD diagnosis in infants with a rare genetic disorder called Tuberous Sclerosis. This podcast will explain how connectivity and activity in a 3 month old can influence a later diagnosis. What we don’t know more about is those intervening months, and what can be done to mitigate symptoms.

https://www.sciencedirect.com/science/article/abs/pii/S2451902220301403?via%3Dihub

https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.51128

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Sex differences: It’s not about the diagnostic measurements.

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A fresh take on an existing topic: why there are more boys diagnosed with ASD than girls. Even from a few months old, girls are different than boys, and they show subtle differences in toddlerhood. But at the time of diagnosis, they score the same on standardized instruments of ASD used to categorize someone as having ASD or not. This means it isn’t about the measures. It could be cultural factors, it could be a protective effect, but there needs to be a better understanding of these differences across the lifespan to help everyone with ASD, especially females.

https://www.cell.com/current-biology/retrieve/pii/S096098222030419X?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS096098222030419X%3Fshowall%3Dtrue

https://doi.org/10.1007/s10803-020-04526-z

https://doi.org/10.1111/jcpp.13242

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Autistic Adults Advise and Advance Research

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Have you ever heard of an initiative called “Autistic Adults and other Stakeholders Engaged Together”? If you have, you know their goal is to ensure that autistic perspectives are included in future scientific research. They recently published an article that summarized the research that autistic people feel is critical, and what is missing, and what needs to be done. They concluded most of the research done so far is applicable to males without intellectual disability. That needs to change. Speaking of adults, how many adults are autistic? Is it 5 million? Maybe, maybe not, but it is still unclear even after a recent publication. Listen to hear more.

To learn more about AASET click here

https://www.ncbi.nlm.nih.gov/pubmed/32390461

https://link.springer.com/content/pdf/10.1007/s10803-020-04494-4.pdf

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Managing autism practice from a distance: it’s called ECHO

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Extension for Community Healthcare Outcomes (ECHO) pairs specialist centers with community providers to help them manage cases and empower them with knowledge to help their patients locally. It is done over the computer, which is especially relevant today. The goal is to help clinicians and physicians manage patients when local expertise is not available. Micah Mazurek of University of Virginia recently published a randomized study about the efficacy of this program, and is a special guest on the podcast to explain what it is and how it can be used to help doctors help each other and their families.

https://jamanetwork.com/journals/jamapediatrics/article-abstract/2762007

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Genes genes all in an order, the ones you have, the greater risk of disorder

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This week, a special focus on genetics:  what type, where do they come from, what do these genes do and how do they influence risk of a wide array of psychiatric issues including autism.  The results come from the largest study to date of people with autism as well as those with ADHD, bipolar disorder and schizophrenia.  It’s also the largest study of the Female Protective Effect so far.  Even if genetics does not explain everything about ASD, genetics is important and you deserve to know why.  Below is a graphical abstract of what they found:

 

 

https://www.cell.com/action/showPdf?pii=S0092-8674%2819%2931398-4

https://www.ncbi.nlm.nih.gov/pubmed/31835028

 

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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