Autism Science Foundation Weekly Science Report Autism Science Foundation

In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.







https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/







https://www.nature.com/articles/s41586-024-07310-6

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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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

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

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

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.