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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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A new type of genetic mutation in ASD

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On today’s ASF podcast, ASF funded researcher Ileena Mitra from the lab of Dr. Melissa Gymrek at UCSD will explain a new type of “de novo” genetic mutation. Those are those spontaneous mutation that happen in kids with ASD but not parents or family members. So where did they come from? Well, this study looks at a mutation that affects tandem repeats, which are those repeating DNA sequences: CGG CGG CGG CGG. A newly built bioinformatics platform showed that these mutations may account for 1.6% of simplex (one person in the family is affected). Likely we are going to hear more about these types of mutations in ASD, so listen to the scientist explain the science herself!

https://www.nature.com/articles/s41586-020-03078-7

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Let’s Get Some Physical Activity

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Everyone needs some physical activity, but people on the spectrum typically get less activity than those not diagnosed with ASD. Why? There are multiple reasons, but as it turns out it can’t all be blamed on the obvious culprit of increased screen time or video game use. Those can be reasons why teenagers get less activity, but not specifically those with ASD. Does physical activity help with ASD symptoms and features? Maybe a little. Different types of physical activity are discussed on this week’s ASF podcast.

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Happy New Year – reasons to be excited for 2021

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Welcome to 2021! Over the holiday break, autism researchers were busy coming up with answers to important questions: 1) how does an environmental exposure relevant to ASD change gene expression and 2) does Telehealth work and for whom? The first question was addressed by an ASF undergraduate who published in Nature. He is going to go on to do great things.

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2020: These are the days we’ll remember

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This week’s podcast is the Year End Summary of scientific discoveries in 2020. Guess what leads these highlights? That’s right! The COVID-19 pandemic and the Black Lives Matter movement. Even though these events significantly affected the lives of people with autism, and will heavily influence future research directions, there were actually other important research discoveries which impact families. These include: early detection and biomarkers of ASD, different subgroups of ASD, treatments and interventions, sex differences and technological advances to study autism on a molecular level. The full transcript will be posted on the ASF website soon. Enjoy.

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Potential of therapy cats, training for parents, and help for families of diverse backgrounds

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What do cats, the Developmental Check-In and parent training all have in common? They all have the documented potential to help children gain emotional skills, social skills, and receive earlier intervention. A small study shows the potential of a well-tempered cat in easing symptoms of autism. Parent training has been shown time and time again to improve functioning across different domains and a new screening tool based on visual scenarios has been validated in Hispanic populations. Thank you for listening this week!

https://pubmed.ncbi.nlm.nih.gov/33290937/

http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=33303635

https://pubmed.ncbi.nlm.nih.gov/33287762/

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Which came first, ASD or sleep problems?

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People with autism have lots of problems, and sleep is one of them. This week’s podcast explores when these problems begin, which brain areas are involved, and how autism contributes to, or suffers from, lack of sleep. Does sleep make ASD worse or are ASD symptoms causing a sleep problems? It’s not a one way street, and the neurons that go to the wrong places at the wrong times which cause ASD, may also be contributing to lack of good sleep. References below:

https://pubmed.ncbi.nlm.nih.gov/33207724/

https://pubmed.ncbi.nlm.nih.gov/33184732/

https://pubmed.ncbi.nlm.nih.gov/32375538/

https://pubmed.ncbi.nlm.nih.gov/32140983/

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More on why intellectual disability matters.

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There have been more than a few podcasts lately about why intellectual abilities (or disability) are important in understanding ASD. It will probably be a theme in the end of year summary. This week, intellectual ability affects risk of dying from COVID and how anxiety is measured. Some studies show that increasing cognitive ability increases chances of having anxiety, although, because it is not always measured appropriately in those with intellectual disability, this linear relationship may not hold. However, while it is important in anxiety and COVID, it may have less to do with how pain is expressed. Podcast links below:

If you want to register for the December 9thwebinar about the COVID Vaccine:  

https://www.chop.edu/centers-programs/vaccine-update/vaccine-webinar-series

Developmental disorders top the medical conditions that heighten the risk of dying from Covid-19

https://pubmed.ncbi.nlm.nih.gov/33198481/

https://pubmed.ncbi.nlm.nih.gov/33175317/

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Gender difference update

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Girls and boys with autism generally show the same symptoms of ASD overall, but what about different aspects of features? What would happen if you studied girls and boys separately and examined detailed assessments of things like motor skills, repetitive behavior, communication or social interaction? These are where subtle signs of differences between genders is showing up. Girls show a higher age of diagnosis, but that depends on cognitive ability. Also, girls with ASD seem to have superior social interaction skills, which reflects normal gender differences. These differences are magnified over time. A new study also looks at Vitamin D levels during pregnancy and outcome in boys vs. girls…..the results are still unclear but interesting.

https://pubmed.ncbi.nlm.nih.gov/33137209/

https://pubmed.ncbi.nlm.nih.gov/33135392/

https://pubmed.ncbi.nlm.nih.gov/33136459/

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Lumping or splitting ASD with intellectual disability? What’s the difference?

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Separating out those with ASD with an intellectual disability from those with ASD without an intellectual disability can more precisely identify factors that influence probability of having a child with ASD as well as factors which can prevent or preclude services. For example, in those without an intellectual disability, there seems to be stronger heritable component. Mothers and fathers with ASD were more likely to have a child with ASD without an ID compared to those with an ID. Also, children of immigrant parents may be missed and lack essential services if they do not have more profound identifiable symptoms like ID. For the sake of better improving research and services for everyone, is it time to stop lumping and start splitting?

https://pubmed.ncbi.nlm.nih.gov/33103358/

https://pubmed.ncbi.nlm.nih.gov/33049777/