Instead of grouping together people with autism based on traditional severity scores, what if groupings were done based on functional outcome? Would this help better understand the broad spectrum of autism and why some people with autism are so different than others? Researchers at the University of Minnesota led by Kyle Sterrett, together with UCLA and UNC utilized a study that followed children with autism in the early 1990’s into their adulthood, in the 2020’s. They created and asked these families a set of questions (included in the manuscript below) to help identify levels of functioning in people with autism. This was done to help them and their families get the right support at right time. They found that these questions could differentiate people with Profound Autism based on things like level of independence and safety concerns. Dr. Sterrett talks with us on this week’s podcast to explain what they did and why it is so important.
Podcast: The first meaningful autism subgroup
In part 1 of a 3 part series on Profound Autism, ASF interviews Emily Ferguson, PhD from @Stanford shares what she learned by asking parents and caregivers of Profound Autism “what do you need?” The short answer was: “There is No Help“. The responses were overwhelmingly focused on inclusion in any program or service, since they are normally excluded from traditional programs. They also call for better multidisciplinary medical management. Needs were associated with a number of factors. Why talk to caregivers? Their perspectives help identify both research and service priorities in the future.
In case you missed it, listen to Alison Singer with Gina Kavali on her podcast @LifeWiththeSpectrum. Alison talks about the importance of autism research and science in general, and how families can get involved.
On this week’s podcast, Mia Kotivkoski, founder of her own 5013c and recent graduate of Stony Brook University, reviews why understanding cultural and contextual factors influence not just an autism diagnosis but general health and outcomes of a broad group of people. They include immigrants, racial and ethnic differences, and socio-economic factors. What can be done? Listen to this week’s podcast to learn more.
https://www.sciencedirect.com/science/article/pii/S1750946718300758?via%3Dihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614360
https://www.scientificamerican.com/article/why-are-there-so-few-autism-specialists
In recognition of Father’s Day on the 16th, today’s podcast includes the latest research on fathers. Fathers may often be the “secondary caregiver” but should hardly be dismissed as inconsequential. Father’s sensitivity and insightfulness plays an important part in development, psychiatric diagnoses (including autism) change the the chance of having a child with autism, and more understanding is being done on the heritable factors associated with chemical exposures in the father.
https://www.tandfonline.com/doi/full/10.1080/14616734.2024.2326416
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11059471/pdf/main.pdf
While NDBIs are generally considered beneficial, they still face controversies – do they actually work and does that translate to an improved quality of life for the family? This week’s #ASF podcast interviews Molly Reilly and Jinwei Song of @UConn to dive into these issues, as well as the role of the caregiver in the intervention and how their influence affects the outcome. References below.
https://pubmed.ncbi.nlm.nih.gov/38719439
https://journals.sagepub.com/doi/epub/10.1177/13623613241227516
https://link.springer.com/article/10.1007/s10803-023-06198-x
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. In this week’s podcast episode, 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.
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 episode provides updates on studies that help with prediction of an autism diagnosis – which is important for preparing for the future and for intervening early. First, a study that uses environmental factors to create an equation for the probability of a diagnosis following a combination of of non-genetic factors only which does a fairly good, but not perfect, job at predicting a diagnosis. Second, a study that looks at the accuracy of a machine that predicts autism from eye gaze as early as 9 months of age and with only a 2 minute test. This one wasn’t as accurate as the one that takes longer and tests older kids, but it’s a first step. No ONE thing does a perfect job at predicting a diagnosis – it’s going to be a combination of things, tested over time and multiple times that will be most helpful at predicting a diagnosis. Both studies are open access!
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904522/pdf/fpsyt-15-1291356.pdf
Vision problems, including far- and near-sightedness, affect up to 44% of children with autism. These deficits may lead to sensory deprivation and impair skills related to autism, including attention and communication. Refractive errors are usually corrected by the use of eyeglasses or contact lenses, but most individuals with profound autism cannot tolerate wearing them and may benefit from vision-correcting, refractive surgery. In this study, pediatric ophthalmologist Dr. Margaret Reynolds will examine social reciprocity, social interaction, and adaptive behavior in children with profound autism who have had this vision-correcting surgery. The methods used to track these outcomes do not rely on the child’s speech or language ability, so those who are non- or minimally-verbal can participate. While at present only a few doctors perform this surgery in children, this relatively simple medical procedure could lead to improved quality of life and function.
Sleep problems are highly prevalent in individuals with profound autism and exacerbate emotional disturbances, cognitive deficits, and challenging behaviors. Existing studies of sleep in autism have mostly excluded children with profound autism. This omission has been blamed on the added burden, expense, and difficulty of studying sleep in children with profound autism in a lab setting. This grant will expand a sleep study currently in progress to add a cohort of children with profound autism. The goal of the study is to validate the use of a minimally invasive headband device that measures sleep quality at home and provides data on specific brainwave patterns during different phases of sleep in people with autism vs. people without autism
Genetic testing is recommended for all children with autism. However, many children receive test results that reveal mutations in genes that have not yet been associated with autism. Unfortunately, these variants of uncertain significance can cause confusion and problems for parents seeking clinical diagnoses and support. This study will utilize machine learning to integrate genetic findings with the child’s attainment of key developmental milestones, because often milestone delays are associated with rare genetic disorders. Eventually, this research could lead to a brief, low-cost clinical prediction tool that increases the diagnostic certainty of genetic testing in autism.