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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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What sperm tells scientists about the origins of ASD

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Does autism begin at a diagnosis, or before a diagnosis?  How early do genetics influence outcome?  This podcast explores a new angle to this question using studies in sperm.  One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent.  So where do they come from?  They may come from germ cells of the embryo of the parent, which forms the sperm and the egg.  Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm.  This means the window of susceptibility can include not just things that happen at conception, but before conception.  Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.

 

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The newest on using genes to predict later diagnosis and those immune blebs in the brain

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Hot off the press:  new data from a collaboration between the BSRC and geneticists in Canada demonstrate the utility of genetics to predict either ASD or atypical development in infant siblings of children already with a diagnosis.  Researchers have been trying to develop more precise biological mechanisms to make predictions in these infants, because they have a 15x greater chance of having a diagnosis, they can’t afford a “wait and see” approach.  Also, while genetics had originally been thought to be irrelevant to some brain pathology in ASD, it’s now been shown possible that it contributes to the immune hyper activation in the brain.  This week, Dr. Matt Anderson from the Autism BrainNet describes “blebs” in the cells of the brain caused by t-lymphocytes.  What causes them?  Genes?  something else?  Thank you to Dr. Anderson for joining in this podcast to explain.

https://www.ncbi.nlm.nih.gov/pubmed/31801954

https://www.ncbi.nlm.nih.gov/pubmed/31591744