Tell us what you want, what you really really want…

What topics have been on your mind that you would like to hear about on a podcast? Is it scientific? Theoretical? Abstract? concrete? Would you like to hear from an expert and which one? Do you not know but you want to hear more? Come at me: ahalladay@autismsciencefoundation.org and TELL me what topics are of interest to you. And don’t forget, the Autism Science Foundation Day of Learning, with many Ted-style talks including sudden unexplained death in epilepsy, precision medicine, new data on cannabidiol, data on COVID struggles in families and how COVID struggles have informed clinician about what can stay and what can go when the pandemic is over. Register FOR FREE!: www.autismsciencefoundation.org

How is ASD diagnosis happening right now?

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

COVID-19 is especially deadly to the IDD community

In a study over over 64 MILLION people across the US, COVID-19 has been shown to be most deadly to those with an intellectual disability. This was once a theory, now it is a proven fact. Take action! Write your governor and demand that intellectual disability and neurodevelopment disorders be put on the priority list for vaccination in your state. A sample letter is below:

As a person or family member affected by intellectual disabilities and neurodevelopmental disorders, we ask that you include all high-risk patients and caregivers living with these conditions as a priority population in your immediate prioritization of FDA- approved COVID-19 vaccines. 

Intellectual disabilities have extensive, and often severe comorbidities. Early prevention and intervention are paramount, and this vaccine is critical for our high-risk community and public health. Families affected by IDD and NDD live daily with conditions including: cardiopulmonary dysfunction; neurological deficits; debilitating seizures; vision and/or hearing loss; gastrointestinal issues; autism spectrum disorder.  A recent publication in the New England Journal of Medicine demonstrated the high mortality of COVID 19 in people with IDD and since groups with lower risk of mortality have been listed as high priority conditions, we request that those with IDD be added immediately.  As leaders and caregivers in this community, we strongly believe individuals living with IDD who require daily hands-on care, and their caregivers should be included in the high-risk population for risk for catastrophic outcomes due to infection of COVID-19. The effects of COVID-19 could be devastating for individuals and family members, of all ages, who are constantly at high-risk for neurological and organ damage caused by potential infection. During the pandemic, these families have lost vital resources (such as physical, occupational and speech therapies) and myriad interventions otherwise afforded to them. Compounded by COVID-related delays in routine public and private care management due to risk of exposure, many people have experienced regression, and the only way to safely resume these crucial interventions is through immediate vaccination.  Beyond the direct risk of Covid-19, the pandemic has had negative effects on the ability of individuals with IDD to receive health care and daily support that they need.

We urgently call on you to prioritize all people and family members and caregivers of people with IDD and NDD to receive the COVID 19 vaccine.

https://pubmed.ncbi.nlm.nih.gov/33676088/

NEJM article open access: https://catalyst.nejm.org/doi/full/10.1056/CAT.21.0051

Ribbit…Ribbit… frogs are the new mouse of ASD research

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/

Get some zzzzzz’s

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 studies in ASD are not perfect

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/

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

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/

Better ways of subgrouping ASD?

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/

A new type of genetic mutation in ASD

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

Let’s Get Some Physical Activity

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.