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Resilience and heterogeneity in ASD

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Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/pdf/41591_2023_Article_2408.pdf

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Suicide, self-harm and genetics in autism

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This week’s podcast covers two new papers of interest to the autism community. First, another study showing increase in self harm and suicide in those with autism – no new news there – but a new discovery this week showed a vulnerability of females with a diagnosis. The study also explores the lower rate of suicide in those with IDD but higher rate of self harm in this same group. Second, the mystery of autism genetics is slowly unveiled. Why is rare variation so influential in an autism diagnosis? As it turns out those with rare variation also have common variation, piling on the genetic liability in this group. Common variation is also uniquely linked to language delay in autism, so is this a core feature? Links below are the scientific articles as well as resources to support those dealing with mental health problems in the autistic community.

Mental health links:

https://vkc.vumc.org/assets/files/resources/mental-health-toolkit.pdf

https://www.camh.ca/-/media/files/cundill-centre/depression-and-autism-full-pdf.pdf

https://www.yorku.ca/health/lab/ddmh/wp-content/uploads/sites/407/2021/04/Mental-Health-Literacy-Guide-for-Autism_Section-9.pdf

https://www.azrieli-anc.com/autism-mental-healthhttps://www.autism.org.uk/advice-and-guidance/topics/mental-health/suicide#How%20do%20I%20get%20help%20and%20support

Articles:

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2808056

Genetics study is OPEN ACCESS: https://www.pnas.org/doi/abs/10.1073/pnas.2215632120?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed

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The Meaning of Microglia

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We normally focus on the function of brain cells that send signals to eachother and communicate across small or long distances, which show differences in ASD. However, we rarely pay attention to the other cells in the brain. One type of cell, called the microglia, has been shown to not only help “pick up the garbage” of the brain, but also shape these connections that occur between brain cells. This week @DavidMenassa1 from @QueensCollegeOx, @UniofOxford, @unisouthampton published a paper in @Dev_Cell that looks at how microglia shape the brain during critical periods of development, and what this means for ASD. We are grateful he shares his expertise (and a beautiful accent) with us this week.

Check out the paper HERE:

https://www.cell.com/developmental-cell/fulltext/S1534-5807(22)00546-9?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1534580722005469%3Fshowall%3Dtrue 

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Genetics does not equal eugenics

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Sometimes when the autism community hears the words “genetics research”, it conjures up images of using genetics to eliminate people with autism. In fact, that’s not the goal of genetics research, nor is it even possible. Recently, several new studies were publish which illustrate how genetics can be used to help people understand their diagnosis, and receive more targeted supports. Special guest Jonathan Sebat from UCSD provides perspective on these findings and why genetics research is misunderstood.

https://pubmed.ncbi.nlm.nih.gov/35654973/

https://pubmed.ncbi.nlm.nih.gov/35654974/

https://www.genome.gov/event-calendar/irreducible-subjects-disability-and-genomics-in-the-past-present-and-future

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The 2021 Year End Summary of Science

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It’s up! The 2021 Year End Summary of Autism Science. It covers everything from glial cells to girls and females, from those that are traditionally underserved to the genetic underpinnings of ASD and siblings and everything in between. It’s a 30 minute recap of the highlights of research from the past 365 days. You can read the full summary here:

The Year in Review, 2021
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The 2021 INSAR quickie

This year’s annual meeting of autism researchers, INSAR, was virtual. But it didn’t stop hundreds of scientists from gathering online to discuss their viewpoints, findings, and the meaning for autism research to families. This week’s podcast captures some of the highlights, at least some of them, in a 30 minute talk. Some of the findings haven’t been peer reviewed, so they should be considered interesting-on-the-horizon discoveries that you should be excited about, but not to be taken as the gospel truth.

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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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Get some zzzzzz’s

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Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

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Age of parents and ASD. It’s complicated.

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Questions have loomed around the finding of an increased risk of parents having a child with ASD if they are under 20 or over 35. Of course not every parent who is really young or older will have a child on the spectrum and plenty of those between those ages also have children on the spectrum. Risk factors for ASD are not absolute, they are nuanced and work with other genetic and environmental factors. This week, Kristin Lyall from the AJ Drexel Autism Institute found that those with a strong genetic influence were not as sensitive to factors like parental age. This goes to show, yet again, that it isn’t about ONE risk factor, it’s about dozens working together. And for those 30 year old parents who had a child with autism – see, not every research finding applies to you directly.

https://www.ncbi.nlm.nih.gov/pubmed/32314879

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521130/