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Microglia as a target for new interventions

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There is a cell in the brain called the microglia which has been traditionally overlooked as a target for therapies. New research supported by ASF and @FraxAresearch suggests that altering the function of microglia in the brain may help support the development of healthy and functional connections in the brain that may be impaired in autism, making the microglia a prime candidate for research. Drs. Marine Krzisch from @UniversityofLeeds and Dr. Mike Tranfaglia at @FraxAResearch describe the approach and how it can be developed to create specific therapies, that when combined with behavioral interventions, can drastically alter someone’s abilities. Dr. Krzisch is also interviewing families about how the findings will be explained when they are ready, what is important to them and what should research emphasize in the future. Participants will be compensated, just email her: M.Krzisch@leeds.ac.uk

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Let’s talk about catatonia

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Catatonia is a syndrome which includes immobility, stupor, and sometimes regression in psychiatric wellness or even ability to feed or take care of ones self. This syndrome is seen in autism about 10% of the time but is is often overlooked or misdiagnosed. This may be because the symptoms are relatively rare or because catatonia is harder to detect in those with autism. This week, special guests Drs. Joshua Smith and Dr. Zachary Williams from Vanderbilt University discuss what happens when researchers following people who are suffering from catatonia and autism across time. What treatments work? How?

Click to access AUR-18-449.pdf

ASF has partnered with NCSA, Autism Speaks, Vanderbilt University, the Catatonia Foundation and other groups to bring you a 6 part series on catatonia given by experts and family members. It is aimed at increasing the visibility and research priority of catatonia. It is NOT this podcast – you have to register via zoom seperately here:

https://us06web.zoom.us/meeting/register/RV6rkPh_SAW8Hw3wmQdCrg

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Do Transcranial Magnetic Stimulation and Direct Current Stimulation help people with autism? The latest science here.

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Two therapies that are meant to alter brainwave activity, called Transcranial Magnetic Stimulation and Transcranial Direct Current Stimulation are receiving a lot of attention for potential efficacy in treating autism. They are non-invasive, which means treatment is provided on the scalp. While results vary, the overall evidence does not support these two interventions in helping to treat core autism features. However, as TMS is approved for depression and OCD, people should ask their doctors about these potential treatments if they suffer from these conditions. Learn more in the articles below:

https://link.springer.com/article/10.1007/s00787-024-02635-z

Click to access nihms-1934887.pdf

https://academic.oup.com/cercor/article-abstract/34/13/8/7661139?redirectedFrom=fulltext&login=false

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The 2024 Autism Science Year in Review

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New Technologies, New Data, New Solutions

This year’s progress in autism research includes promising findings, clarifications, explanations, and the uncovering of new avenues of inquiry. The focus is now on personalized medicine: finding the right treatment for the right person at the right time through targeted interventions. Advances in technology and genetic testing are opening new avenues for therapeutics, rapid drug testing, and improved differentiation of subgroups of autism.

2024 Autism Science Review
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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