Autism Science Foundation Weekly Science Report

You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

ABA and ABA – inspired behavioral therapies like Naturalistic Developmental Behavioral Interventions are the most commonly used in autism. They have become more sophisticated in design, using control groups and implementing other ways to minimize bias. But when you put all of the data together around ABA-type interventions in a pile, are they effective? Do they work? It turns out, just like everything, these studies are not perfect. But even using the strictest of criteria, the results are positive for the support of social communication skills. Of course, there are nuances and details, you can hear about them in this podcast.

https://pubmed.ncbi.nlm.nih.gov/31763860/

https://pubmed.ncbi.nlm.nih.gov/33482692/

THE FACTS BEHIND APPLIED BEHAVIOR ANALYSIS

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/

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/

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

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.

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.

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.

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/