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Factors That Influence Heterogeity and How

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Understanding factors that make each person with autism different has been a challenge, affecting diagnosis, interventions and the way we think about autism in general. Researchers at Istituto Italiano di Tecnologia, Rovereto, Italy, used computers to see how language, intellectual ability, motor and adaptive functioning grouped individuals into different categories. It turns out there are two groups – one group that improves over time and outperforms the other group consistently even in early life. The other group continues to struggle. These factors are not autism-specific, but do influence the creation of these different groups that are different biologically as well as behaviorally. This week’s podcast is an interview with the researchers on what it means for the future of understanding what might help what person at what time in their life.

The publication is open access and includes the model so their findings can be replicated widely: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00613-5

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Breakthrough for those with rare genetic disorders

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This week, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to them, and the FDA approved it for use in a clinical trial. Years later, a new drug was approved that led to a reduction in behaviors associated with Rett Syndrome. Autism can take a lesson from this. In addition, can the genetics of autism be explained by parents with similar phenotypes? This is called assortative mating. The answer is complex.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450502/pdf/fped-11-1229553.pdf

https://www.nature.com/articles/s41591-023-02398-1

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38877467

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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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Top reasons to study the autistic brain

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There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/

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Happy Pride 2023

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With just a few weeks to go until June, this week’s podcast is a short summary of the prevalence of transsexuality in the autism community and how many people are autistic in the trans community. More importantly, there are guidelines about the identification and care for those who have these co-occurring conditions. The references mentioned are below:

https://pubmed.ncbi.nlm.nih.gov/36996732/

https://pubmed.ncbi.nlm.nih.gov/36721890/

https://pubmed.ncbi.nlm.nih.gov/36358354/

https://www.tandfonline.com/doi/full/10.1080/15374416.2016.1228462

https://4w.pub/autism-puberty-gender-dysphoria-view-from-an-autistic-desisted-woman/amp/

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The molecular signature of the autism brain

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Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf

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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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Is anxiety related to autism, and where is it in the brain?

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Anxiety is common in people with autism – but is is different than other types of anxiety or similar? Is it part of the autism phenotype? When does it start and what triggers it? Two new studies which use a longitudinal design and examine the links between autism features, anxiety symptoms and brain development are summarized this week. It shows that the amygdala is important, that some features of anxiety are core to ASD and some are separate, and it is related to autism features like insistence on sameness. This has implications for how anxiety is diagnosed and treated in those with ASD.

https://pubmed.ncbi.nlm.nih.gov/35871413/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116934/?report=printable

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How that little amygdala makes a big difference in autism

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The amygdala has been shown to be differently sized in autistic people – at first it is too big then it becomes smaller than typically developing people. But how early are these differences seen and does it relate to a diagnosis? The Infant Brain Imaging Study tackled this question in a recent study which compared those who were likely to develop autism at 6 months to those with Fragile X to see if there were differences and if it was specific to autism. Their findings will surprise you and have implications for targeted supports and interventions.

https://pubmed.ncbi.nlm.nih.gov/35331012/

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Environmental factors as both causes and interventions?

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Environmental exposures, including toxic chemicals, can contribute to the causes of ASD. But how do other environmental factors, like behavioral supports, work in the brain to improve behaviors associated with ASD? For this, you need a broad interpretation of the term “environmental” and an animal model so you can see the mechanism involved. Studies show while environmental factors can contribute, they can also provide modifications in cellular and molecular function which support learning and improved developmental trajectory. Finally, on a different topic, are autistic adults more likely to be involved in a crime compared to other groups? No, they are not, but there are factors which affect the risk of being involved with the criminal justice system, at least in the UK. Read more in the studies below.

https://pubmed.ncbi.nlm.nih.gov/34972219/

https://pubmed.ncbi.nlm.nih.gov/35259351/

https://pubmed.ncbi.nlm.nih.gov/35261275/