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Rare and common genetic variation in autism

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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.

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All about ABA

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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.

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A new ways for the environment to affect genetic expression

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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/

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Here’s what you won’t hear about that new JAMA study on Twitter

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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/

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Passing as Non-Autistic

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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/

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September26.org

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Instead of a podcast, this week is a message in honor of the 1 year anniversary of the death of advocate and mother Feda Amaliti. Stay safe. Out of this tragedy, a website has been built that contains information for families on how to prepare for an unexpected emergency and what to do when it happens. Please go to www.september26.org.

Also, we need your help in figuring out what the needs of families with disabilities are in terms of safety training and education. Please fill out this survey: https://www.surveymonkey.com/r/LivingSafelyWithDisabilities2

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Who cares about eye gaze?

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Early changes in eye gaze – or the time spent looking at another person’s face compared to the scene around them – is diminished in ASD. It starts to decline at about 12 months and is linked to later social communication behaviors. But many people wonder why this is an early developing behavior worth studying? Also, what happens in school age to kids that show poor eye gaze and infancy, and those who are on the “broader spectrum” but not a diagnosis in infancy – how do they fare at school age? Devon Gangi from UC Davis MIND Institute talks to us about both of these things and why baby siblings are so important

https://pubmed.ncbi.nlm.nih.gov/33615438/

https://pubmed.ncbi.nlm.nih.gov/34008921/

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Violent criminal behavior, screen time, and inter pregnancy interval – not all related to each other but all relevant to ASD

Many media reports have linked autism to violent criminal behavior, but statistically, autistic people are more likely to be the victims but not the perpetrators of violence. So what ELSE is going on in those with ASD who have committed a violent crime? A study in The Netherlands delves into this by collecting information on violent criminals with an ASD diagnosis. Also, families are always concerned about the time their kids spend on their screens, and COVID caused even more screen time – think about all the time spent in online school. But is it harmful? Are there benefits? And does it depend on the type of screen time? Listen to this week’s podcast to find out.

https://pubmed.ncbi.nlm.nih.gov/34500347/

https://pubmed.ncbi.nlm.nih.gov/34483995/

https://pubmed.ncbi.nlm.nih.gov/34423916/

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The risk of dementia in older adults

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https://pubmed.ncbi.nlm.nih.gov/34378867/

There have been several small, or small-ish, studies looking at the link between dementia and autism or ID. However, recently, the largest medical record study of 500k people, 12k of which were autistic and 26k were autistic and had ID, examining early onset dementia was published. Those with ASD had a 1.9 increased risk for dementia and it was even higher for those with ASD + ID. Why? Is it psychological or biological or both? Researchers at the AJ Drexel Autism Institute investigate.

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Super, Superb and Sensational Siblings

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Siblings of people on the spectrum, including autistic adults, are amazing. They support, advocate, fundraise, and now we know they actually have a direct influence on the outcome of their affected brother or sister. What’s that effect? When is it most obvious? Does gender or race matter? All of these questions will be answered by Nicole Rosen of UCLA on this week’s #ASFpodcast. And make sure to tune on on September 8th to or Sam’s Sibs Stick Together webinar. Info below.

https://pubmed.ncbi.nlm.nih.gov/34120483/

https://autismsciencefoundation.org/resources/sams-sibs-stick-together/
click here for a link to register for September 8th