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Health Concerns Across 3 Generations

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Are you the grandparent, cousin, aunt, uncle, sibling, or half-sibling of someone with autism and wondered “what is the likelihood of autism in families, and the likelihood of comorbid conditions if I have a family member with autism?” Researchers at the AJ Drexel Autism Research Institute and Aarhus University in Denmark collaborated to calculate probabilities between autism in a person and dozens of other comorbid conditions in family members. They not only made the paper open to the public for everyone to read it, but they also created a publicly available data visualization tool so anyone can go on and look at specific situations of particular family relationships relating to anything from autoimmune conditions to mental health and psychiatric diagnosis. Links below for reference:

https://pubmed.ncbi.nlm.nih.gov/39283002

Interactive graphs: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5

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Research for the end of Autism Action Month

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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

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How does autism prediction work?

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This podcast 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

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38429348/

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The ASF Year End Review of Science

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Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

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A potential biomarker to AID, not MAKE, a diagnosis

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The media has just called another biological marker a “diagnostic test”, when in this case, it was always intended to be an aid, not a test itself. It involves using baby hair strands to look a variation in metabolism of certain chemical elements across time. Remarkably, it showed similar results in autistic children in Japan, the US and Sweden. It’s not ready to be used as a diagnostic test, so what is it supposed to do? Listen to an interview with the inventor and researcher, Dr. Manish Arora from The Icahn School of Medicine at Mt. Sinai School here.

The full article (open access) can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740182/

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ADHD and ASD diagnosis both on the rise. Coincidence or commonalities?

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Like ASD, the prevalence of ADHD has increased significantly in the past 2 decades. A critical analysis examines the factors, and many of them can be applicable to the increase in the rise of autism diagnoses: increased diagnosis in adults, looser diagnostic criteria, and untrained professionals making the diagnoses. While they are not of course the same, listen to some of their arguments and read their comments (link below) to see if you agree with my assessment.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/jclp.23348

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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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A 2022 Day of Learning Quickie

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This year’s Day of Learning was a huge success, with topics ranging from biological sex differences to mobile technologies all the way to the importance and documented value of leisure activities in people on the spectrum. the speakers included a discussion of the IACC, sex differences, the value of prevalence data, mobile technologies, leisure activities, and a recognition of two advocates who made or make a difference in families: Samantha Els and Suzanne Wright. Listen to this week’s podcast for a quickie, but don’t let it prevent you from watching the longer videos, a link to which can be found below

www.babynavigator.com

www.autismnavigator.com

Day of Learning
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Happy Pride!

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It turns out that autistic individuals have a higher rate of gender variance than those not on the spectrum. This doesn’t require treatment in the traditional sense, but a better awareness, psychosocial supports, and understanding among clinicians that can provide services and help for those that need it. Today’s podcast focuses on recent studies linking being LGBTQIA+ and autistic, sharing information on mental health issues in this group as well as guidelines to help those with ASD receive the services they are entitled to. As illustrated in one study included in the podcast, shamefully, his does not always happen.

https://pubmed.ncbi.nlm.nih.gov/32770077/

https://pubmed.ncbi.nlm.nih.gov/34121545/

https://pubmed.ncbi.nlm.nih.gov/33526233/

https://pubmed.ncbi.nlm.nih.gov/32056117/

https://journals.sagepub.com/doi/full/10.1177/13623613211024098

https://pubmed.ncbi.nlm.nih.gov/27775428/

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Lumping or splitting ASD with intellectual disability? What’s the difference?

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Separating out those with ASD with an intellectual disability from those with ASD without an intellectual disability can more precisely identify factors that influence probability of having a child with ASD as well as factors which can prevent or preclude services. For example, in those without an intellectual disability, there seems to be stronger heritable component. Mothers and fathers with ASD were more likely to have a child with ASD without an ID compared to those with an ID. Also, children of immigrant parents may be missed and lack essential services if they do not have more profound identifiable symptoms like ID. For the sake of better improving research and services for everyone, is it time to stop lumping and start splitting?

https://pubmed.ncbi.nlm.nih.gov/33103358/

https://pubmed.ncbi.nlm.nih.gov/33049777/