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When can you see autism in the brain?

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This week the Infant Brain Imaging Study, or IBIS, published it’s 2nd study on the emergence of changes in the brains of individuals with autism.  While red flags for autism can be seen early, a diagnosis of autism is not typically made until after 24 months of age. Using a baby sibling research design, scientists showed increases in the size of certain areas of the brain between 6-12 months.  This opens up opportunities for even earlier diagnosis of ASD in the future.   Also, a group at Stanford shows the emergence and disappearance of co-morbid symptoms in autism, such as epilepsy, schizophrenia and ADHD, which are dependent on sex and age.  Together, these studies show that autism begins very very early and symptoms and behavioral and biological features change over time.

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Narrowing down gene and environment interactions in autism

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With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start?  Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex.  Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection.  In other words, being male and having the mutation produced small changes, increased by the environmental factor.  In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15.  Typically, mutations of this area of the genome are thought to cause autism.  However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations.  These are all examples of scientific breakthroughs that are helping better understand what causes autism.  Even when it looks like one thing, it’s multiple things.

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Another gene that causes autism and what families are doing about it

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A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile.  But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism.  This may put it into the category of the rare mutations that have a major contribution to autism symptoms.   In addition to autism, mutations of these gene are associated with seizures and epilepsy.  Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation.  This week’s podcast includes a message from one of the leaders of this foundation:  FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.

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Brain signals improve the efficacy of behavioral interventions

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Biomarkers can help distinguish different types of features but this week they were used to predict who would respond to Pivotal Response Training, or PRT.  Researchers, led by Pam Ventral at Yale looked at how the brain responded to a social or non social situation as well as baseline features on standardized measures.  Remarkably, these brain signatures were better at standard behavioral assessments at determining who would respond most positively to PRT.  This study has enormous implications for personalized medicine approach and demonstrates how early studies in biomarkers many years ago have paid off for those with autism.

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Autism and Epilepsy – a brain tissue perspective

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On October 14th, the Autism BrainNet hosted it’s first webinar around how brain tissue findings affect people with autism.  First, Shafali Jeste, MD, from UCLA explained what seizures were, how prevalent they were in people with autism, and what the risk factors for them were in ASD.  Next, David Menassa from Oxford University described recent findings in brain tissue which showed how glia cells, or the cells of the brain that support neurons, are affected in ASD and how epilepsy affects these changes.  The introduction of the webinar is missing but only for a few seconds.   Thank you to Drs. Jeste and Menassa for participating in such a great informational event and for everyone that registered.

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Oxytocin: hitting a small nail with a giant sledgehammer?

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This week’s podcast is inspired by a new study in PNAS thatlooked at the role of methylation of the oxytocin receptor in social behavior in people without autism.  Together with studies of the brains of people with autism, it suggests that filling the brains with oxytocin may not be the best approach for treating social impairments.  Instead, compounds that turn on or turn off the genes that control oxytocin may be more appropriate, and it also may help explain variability in why some people respond to oxytocin treatment, and why others do not.   Also, scientific technology has a new way of studying the influence of the environment on brain development.

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What came first? Impaired social behaviors or something else that changes social behavior?

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This week is a more philosophical, ideological discussion of the origins of social behaviors inspired by review articles written by Mayada Elsabbagh at McGill University and Boaz Barak and Guoping Feng at MIT. The focus of these papers are: when social behaviors emerge, and what brain regions are responsible for their existence. While Dr. Elsabbagh thinks of the question in terms of when behaviors and symptoms emerge in infancy, Drs. Barak and Feng consider the issue by comparing autism to Williams Syndrome. Williams Syndrome is very similar to autism except people with WS are hyper social and empathetic and sometimes gregarious. One tiny change on one area of one gene makes all the difference. This podcast doesn’t settle the question, but hopefully shows you listeners why there is a debate and how it is important for people with autism.

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Regression in autism, down to the neuron

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On Friday, February 19, the NIH organized a workshop on regression in autism.  It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome.  Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation.  Because the genetic mutation is know, researchers have been able to make huge advancements in the study of the cellular causes of regression.  Do they apply to autism?  The theory of overturning is presented and discussed in the workshop and on the podcast.  You can see the full agenda at:  https://iacc.hhs.gov/non-iacc-events/2016/loss-of-skill-agenda-february19.shtml

Here are some screen shots of the workshop:

 

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