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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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Nobody ever talks about catatonia

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Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

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Little Brains Answer Big Questions

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This week we talk to Sergiu Pasca from Stanford University. He has revolutionized the field of understanding the field of brain development in neurodevelopmental disorders and just published a new study which examined the genetic influence of brain assembly. The way he does this is quite remarkable. His lab uses assembloids, which are many many many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.

Open access! https://pubmed.ncbi.nlm.nih.gov/37758944/

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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.