Autism Science Foundation Weekly Science Report

Most people with autism have some sort of sensory dysfunction: hypersensitivity or hyposensitivity or sensory avoiding behaviors to touch, smell, sound, light. But a new study looking at kids from the Study to Explore Early Development (SEED) suggest that it may be more important than you think. In fact, it was the only feature to unify those with autism compared to those with developmental delay. Are there treatments outside of environmental supports to help sensory issues? There could be: a drug that tried and failed to treat other features of autism called arbacolfen supports the idea that this drug target could be helpful in treating sensory issues.

https://pubmed.ncbi.nlm.nih.gov/34985973/

https://pubmed.ncbi.nlm.nih.gov/34967132/

https://pubmed.ncbi.nlm.nih.gov/34873147/

It’s up! The 2021 Year End Summary of Autism Science. It covers everything from glial cells to girls and females, from those that are traditionally underserved to the genetic underpinnings of ASD and siblings and everything in between. It’s a 30 minute recap of the highlights of research from the past 365 days. You can read the full summary here:

The Year in Review, 2021

On Tuesday, the journal Lancet published a 2+ year long endeavor around understanding the heterogeneity of autism not just in features but in access to services for individuals and families across the world. They called for a stepped care to help individualize and prioritize needs in different individuals based on their needs, not their diagnosis. They also called for the label of “profound autism” which describes individuals with very different outcomes compared to those who have a higher verbal and cognitive ability. Recognizing everyone needs supports and help, the “profound autism” label needs different supports, like different employment situations and different living accommodations. Thankfully, to authors, Dr. Catherine Lord from UCLA and Alison Singer from ASF explain the article and the impact they hope it makes on the field.

The article is open access but you have to register to download a copy, here: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)01541-5/fulltext

You have heard a lot about how the pandemic affected those with a diagnosis – and it isn’t good. Recent studies have turned their attention to stress and anxiety and depression of caregivers during the pandemic. It was higher in those parents with children of a neurodevelopmental disorder, but it was also complicated, related to the functioning of the child and of course, when the questions were asked. Some used a “pre vs. during” pandemic design and some used a case-control design. But altogether, you can learn about the variation across families and across the world on this week’s #ASFpodcast.

https://pubmed.ncbi.nlm.nih.gov/34591373/

https://pubmed.ncbi.nlm.nih.gov/34591364/

https://pubmed.ncbi.nlm.nih.gov/34657487/

https://pubmed.ncbi.nlm.nih.gov/34776249/

On this week’s podcast, we interview Dr. Giacomo Vivanti from the AJ Drexel Autism Institute who, together with Daniel Messinger from University of Miami, wrote an analysis of how research and intervention have changed since the DSMIII was written 40 years ago. They include theories of the causes of autism, the theories of the deficits and strengths of autism as it has changed over time, as well as intervention styles to meet the expanding understanding of autism. You can read the paper below, but Dr. Vivanti gives a great summary in a 30 minute interview!

https://pubmed.ncbi.nlm.nih.gov/33491120/

Two weeks ago the topic was gene x environment interactions. But some genetic variants, including rare genetic variants, can exert huge influence on a diagnosis by themselves. New data from genetic samples that have been sequenced are showing an increase in the number of these genes and the role of these genes, and how they work with common variants. What are rare and common variants? How do they influence a genetic diagnosis? And what does this mean for the future of genetics in ASD? Listen to Dr. Behrang Mahjani at Mt. Sinai School of Medicine who authored two recent publications on the topic.

The practice of ABA, or applied behavioral analysis, can be easily misunderstood. Rather than a single procedure, ABA is a variety of techniques that can be applied to different situations to improve communication, reduce aggression, and improve the quality of life of people on the spectrum. Why is it getting a bad reputation? Is the ABA of today the same as it was in the 1960’s? And what benefits does the techniques and principles of ABA confer to those on the spectrum? Listen to today’s #ASFpodcast which also includes footage from Melanie Pellecchia’s Day of Learning presentation.

You have maybe heard about how environmental exposures after conception or birth may affect genetic expression and then risk of developing autism. But what research has been done to look at preconceptional exposures, presumably exposures that affect the cells that then give rise to sperm and eggs? Turns out they are susceptible to some environmental exposure too, which could lead to a change in the way genes are expressed in the embryo, the fetus, and then the child. Want to know more? Jill Escher just published a study with scientific colleagues about this hypothesis and she explains it in this week’s podcast.

https://pubmed.ncbi.nlm.nih.gov/34596807/

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/

You may know this as “masking” or “camouflaging” where autistic adults intentionally or unintentionally hide their autistic features to pass as non-autistic because they want to hide some of their challenges. This week, Drs. Erin Libsack and Matthew Lerner from Stony Brook University summarize a systematic review on this behavior. The original goal was to develop their own studies, but as it turns out, there are still so many unanswered questions to deal with that were unearthed from this systematic review.

https://pubmed.ncbi.nlm.nih.gov/34505231/