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An update on why there are fewer autistic females compared to males

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This week, special podcast correspondent #MiaKotikovski summarizes new research on the increasing prevalence of autism, with a focus on females. While the number of diagnosed females is increasing faster than the number for males, females assigned at birth still are less likely to receive a diagnosis than males. Additional evidence points to females having more genetic mutations and lower cognitive ability, so the questions remain: Are there females with autism who are just not getting diagnosed despite having all the autism features? Why not? Does autism in females “look” the same as autism in males? What sets them apart? These articles are all featured in the year-end highlight of research, so this is the time to get a deep explanation of the latest in sex differences in #autism.

https://pubmed.ncbi.nlm.nih.gov/34563942

https://pubmed.ncbi.nlm.nih.gov/39334436

https://pubmed.ncbi.nlm.nih.gov/33966484

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Recurrence rates for families with an ASD child

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What is the probability of having a future child with autism if you already have one or more? Families want to know. It helps preparation, planning, will hopefully improve early screening and supports. The Baby Siblings Research Consortium analyzed a bigger group of siblings compared to their 2011 numbers and found the recurrence pretty stable – 1 in 5 siblings will have an autism diagnosis compared to 1 in 36 in the general population. However, this number depends on a lot of things: Sex of infant, sex of sibling with an existing ASD diagnosis, number of autistic children in the family, race and socioeconomic status. Listen this week to hear all the numbers.

https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2023-065297/197777/Familial-Recurrence-of-Autism-Updates-From-the?autologincheck=redirected

https://pubmed.ncbi.nlm.nih.gov/38973707

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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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Is autism a yes/no diagnosis?

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This week’s podcast highlights a paper from the IBIS (infant brain imaging study) that tracks infants from 6 months to 5 years of age to examine how ASD symptoms cluster together. These infants either have a diagnosis or they don’t, or they have something which doesn’t meet diagnostic threshold but is still impairing in some way. Ignoring the actual diagnosis, if the data is clustered together around how symptoms present, what happens? What does that mean for some of the longest standing research findings in ASD? For example, using this new approach which ignores and actual diagnosis, are more males are diagnosed than females? As it turns out, it equals out these ratios. What does this mean? Listen to this week’s podcast to hear directly from the first author, Catherine Burrows!

https://www.sciencedirect.com/science/article/abs/pii/S0006322322013130?casa_token=ZFZpvnUOIBkAAAAA:G667QIkX_Vd6JPeWvIPABo1FPrdNL_3IiW-ajy7xR2Nme_I4ztOEf2xJ4FyhGHTMgrb8Lqq6Og

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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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Passing as Non-Autistic

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You may know this as “masking” or “camouflaging” where autistic adults intentionally or unintentionally hide their autistic features to pass as non-autistic because they want to hide some of their challenges. This week, Drs. Erin Libsack and Matthew Lerner from Stony Brook University summarize a systematic review on this behavior. The original goal was to develop their own studies, but as it turns out, there are still so many unanswered questions to deal with that were unearthed from this systematic review.

https://pubmed.ncbi.nlm.nih.gov/34505231/

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Ribbit…Ribbit… frogs are the new mouse of ASD research

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You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

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More ASD links with hormones that are not well-known but are now shown

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Oxytocin treatment for social communication in ASD has been recntlyused by doctors, but mostly used by people using it on their own through a nasal spray. Unfortunately, it doesn’t have a huge, if any, effect in randomized clinical trials. This week’s podcast investigates current research in both the oxytocin and vasopressin system in ASD, when changes start, and how oxytocin administration has different effects in autistic women vs. neurotypical women. Once again, clinicians can not assume that what works in people without ASD will work in those with a diagnosis.

https://www.ncbi.nlm.nih.gov/pubmed/32341146

https://www.ncbi.nlm.nih.gov/pubmed/32188502

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ASD in the “next generation” of siblings

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Times have changed. Once, parents of a child with autism were concerned about autism in younger siblings. Now those parents are grandparents, and worried about autism in their children’s children. Siblings of autistic adults are considering having children of their own and wondering what they should be prepared for when they have kids of their own. This week, Natasha Marrus from Washington University School of Medicine talks about her new study looking at the increase in probability of ASD in infants who have an aunt or an uncle with ASD. The results are not surprising, but they do have implications for actionable steps.

https://www.sciencedirect.com/science/article/pii/S0006322320313846?via%3Dihub

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This one’s for the girls

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In this week’s podcast, I semi-plagiarize from a recent summary of sex differences in ASD, written by Drs. Meng-Chuan Lai and Peter Szatmari from the University of Toronto.  They delve into why more males are diagnosed with females, and differences in the presentation of those features of ASD that differ between males and females.  These include camouflaging, differences in language style, differences based on behaviors determined by sex, and associated features like anxiety and internalizing behaviors.  Thank you to the authors for putting together the information in a way that makes sense.

https://www.ncbi.nlm.nih.gov/pubmed/31815760

https://www.ncbi.nlm.nih.gov/pubmed/30962869