Rare Disease Week, the FDA, mortality in autism, trajectories and subcategories

Autism does not start at one, two or three years. It is a condition with trajectories, where some individuals show signs early, others later. It doesn’t just happen after some mysterious “medical event”, people are born with it. Scientists know this by tracking outcomes of those with a high likelihood of autism all the way from birth to school age. We need more research on why features do not show up the same in each person, and how you can predict not just an autism diagnosis but other co-occurring conditions that are common in autism. Finally, science on how to best support each person with autism across their lifespan must continue, not stop. @UCL and @KCL are conducting just that type of research – that understands that features of autism change over time, emerge at different ages and also are accompanied by different biological features. This week we talk to Tony Charman, Tessel Bazelmans, Emily Jones and Mark Johnson who are pioneers in understanding how autism features emerge and change over time, but start in early infancy. https://pubmed.ncbi.nlm.nih.gov/42640439 https://pubmed.ncbi.nlm.nih.gov/42410708

This week we talk to Drs. Steve Scherer, Lisa Bradley and Graham Collingridge who recently published research that shows the gene PTCHD1-AS influences social functioning in humans and mice, without influencing intellectual deficits. This is the newest data that shows a single gene can control social communication and not some of the other comorbid features of ASD. They review the data around genetic influences in autism, why the knowledge of the role of genes in autism has exploded in the past decade, evidence that specific genes lead to an autism diagnosis, and more specifically, what this gene does in the brain and why it took so long to identify it. Here is the article: open access! https://www.nature.com/articles/s41586-026-10515-6 Need a genetic test? Here are some resources: www.startgenetic.com Genetic Testing

This week’s podcast features beloved UCLA child neurologist Dr. Rujuta Wilson who helps families with autism and other neurological conditions, both with and without a known genetic condition. We discuss the overlap of motor disability with autism spectrum disorder, what we know, what we need to know and what research families can participate in to help solve these questions. Dr. Wilson also explains some common terms in motor abilities or disabilities and how recreational activities can enhance evidence-based therapies to improve motor function, and of course give joy to those participating. The PROMISE Study_approvedDownload Wong.Wilson.sibs.motorDownload survey.CN.wilsonDownload

Happy Pride! In honor of June, this week’s podcast focuses on the specific needs of those who are transgender or sexually diverse and also autistic. What is the prevalence of autism in those who are transgender and what is the prevalence of being transgender in those who are autistic? New research has emerged which shows that mental and physical health problems are more prevalent in those with an autism diagnosis and transgender compared to those who are not autistic and transgender. What can we learn about sex differences in diagnoses of males and females through studying those who are also transgender? Also, Laura Graham Holmes who authored one of the studies comments on the importance of her research. Click to access 10.1177_07067437261442432.pdf https://onlinelibrary.wiley.com/doi/10.1002/aur.70235 https://pubmed.ncbi.nlm.nih.gov/41614651 https://www.nature.com/articles/s41467-020-17794-1 https://pubmed.ncbi.nlm.nih.gov/41533668

We have talked already about the link between autism and dementia, however a lesser known association is the one between autism and another disorder of aging: Parkinson’s Disease. A recent presentation at INSAR revealed what is known about the relationship, why they are related, what causes the association and what people with autism can do to possibly mitigate the onset of dementia and Parkinson’s Disease. Thank you to Dr. Blair Braden and Samantha Harker and Manuela Velez Galindo from the Autism and Brain Aging Lab at Arizona State University (@autismbrainaginglab @asuresearch) for joining this podcast and explaining the findings so far and what they mean for individuals and families with autism. https://pubmed.ncbi.nlm.nih.gov/25911091

SPARK – neuroscience, known to autism researchers as the other “SPARK”, is a project based out of Stanford University. This project does not collect genetics on hundreds of thousands of people, instead, they that provide funding, advice, support, mentorship, coaching and project management to scientists who have some evidence of a target in the brain relevant to autism. They help these scientists turn it into a potential drug or therapeutic that can help families. This is known as “translational research” and part of the “Valley of Death” where so many good drugs fail. This is a high-risk/high-reward endeavor. They are currently focused on therapeutics that target the functioning of the brain in autism and Parkinson’s Disease. Today’s guest is Dr. Opher Kornfeld, managing director of SPARK NS and neuroscientist. He explains how SPARK NS started, what they do, and how they have been successful helping scientists develop an idea into a potential product. https://sparkns.org

The word “mitochondrial deficits” gets thrown around a lot as a cause of autism, but what does this really mean? This week we interview Dr. Carisa Sirois from the University of Wisconsin, who recently published a review of how the mitochondria are involved in neurodevelopmental disorders. The ways mitochondria are involved in ASD are not … Continue reading "The Mitochondria in a Minute"

What is the Independent Autism Coordinating Committee and why did it meet? This week’s podcast discusses the need and the agenda of Thursday’s meeting. In addition, more research showing that epidemiologists should consider different features of autism together with prevalence numbers because they may differ across the spectrum. Finally, different types of language development are … Continue reading "Updates from I-ACC, late prematurity and language development"

This week’s podcast summarizes some highlights in scientific research and includes a recognition of Rare Disease Week and actions taken by the FDA to ease the criteria for evaluating genetic therapies for rare genetic disorders, the best study to date on the mortality in autism, genetic prediction of outcome in individuals with a diagnosis, and … Continue reading "Rare Disease Week, the FDA, mortality in autism, trajectories and subcategories"

This week we talk to Dr. Emily Hotez from UCLA, (and a sibling to an autistic adult) who has focused her research on reducing stigma and marginalization, which will ultimately improve research participation to increase scientifically valid options for families. She also works on a nationwide project to improve health outcomes in autistic individuals, from … Continue reading "Health Care for Autistic Individuals During Transition Age"