
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

A new type of genetic mutation in ASD

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Thank you to Dennis Wall from Stanford University for explaining what Machine Learning is, how it’s related to Artificial Intelligence (today’s four buzz words) and how these new technologies are helping families get a diagnosis.  He talks about the overall goals of these techniques, highlighting Cognoa’s CanvasDx to provide remote diagnoses to potentially reduce the waiting lists for families.  




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Machine Learning in Autism, Explained


Did you miss the ASF 2024 Day of Learning and can’t wait for the videos to be posted?  This is a 17 minute brief summary of what was discussed, but unfortunately, with no visuals.  Don’t just listen to the podcast, watch the videos when they are posted.  Also included in this podcast is a shoutout to the Profound Autism Summit which brought together hundreds of advocates around those who need 24/7 care for their lives.  The link to their advocacy page is here:  https://www.votervoice.net/ProfoundAutism/campaigns/112917/respond 

The 2024 Day Of Learning Quickie


This podcast has not covered transition from adolescence to adulthood in the past, probably because there has not been a lot of research in this area.  Luckily, recently there has been a surge of investigations and scientifically – supported interventions and recommendations for individuals who are transitioning to adulthood.  This podcast reviews the latest in where the gaps are and identified some (of many) areas that need further research.  Here are the references that will be helpful.  







https://pubmed.ncbi.nlm.nih.gov/38493400/



https://pubmed.ncbi.nlm.nih.gov/38501189/



https://pubmed.ncbi.nlm.nih.gov/38423723/



https://www.autismspeaks.org/tool-kit/transition-tool-kit

The Trouble with Transitions


This week’s podcast will be an interview with Matt Cicoria from the podcast Behavioral Observations.  We discuss the meaning of the words “Profound Autism” and why a blanket term  of “autism spectrum disorder” may not be helping anyone on the spectrum.  If you are in the Boston area on April 5th, please attend the Profound Autism Summit, link here:  https://www.profoundautismsummit.org









“What is Profound Autism?” with Matt from the podcast Behavioral Observations


Last week in North Carolina, the Meeting on Language in Autism was held, with 3 days of amazing presentations and lots of productive discussions about how language and speech develops and how people with autism communicate.  This podcast describes the origins of language development and how intervention during toddlerhood can promote lifelong language abilities.  To learn more about the meeting go to www.mola.org and to see the Autism Navigator, go to www.autismnavigator.org.









A new type of genetic mutation in ASD

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