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A message for MLK’s birthday and a better way diagnose anxiety

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Happy MLK day – a day when we recognize a man for his contribution in justice, tolerance, equality and service, I highlight a supreme court case which affects how those with special needs are fighting for justice and equality.   Also, over the holidays, Dr. Connor Kerns from Drexel University published how a new tool to diagnose anxiety in those with autism was validated, setting the stage for its use by physicians and clinicians who don’t have a lot of experience with autism to help better understand the symptoms of their patients.

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Why is there a link between c-sections and autism?

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Happy New Year!  Over the holiday break, a the largest study so far including the most number of countries analyzed the risk of having a c-section and autism.  They found a consistent increase risk that wasn’t due to cause of the c-section or the age of the infant (preemie or term).  So what is going on?  This week’s podcast warns against the unintended consequences of linking c-sections to autism and offers an explanation of the findings in addition to what the study authors provide.

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And now….the 2016 year end summary of autism science

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The year 2016 was eventful for many reasons.  In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD.  Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling”  This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome.  It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD.  We hope you find it informative – please send comments to ahalladay@autismsciencefoundation.org

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What we know about autism by looking in the brain

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On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism.  It covers genetics, neuropathology and immunology.  It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director.  Please click above to watch the 45 minute presentation and questions from the audience.   Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org. 

 

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Why is it so hard to look them in the eye?

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There is an ongoing debate about why people with autism avoid eye contact.  There is data to support both, but as this behavior emerges very early, it’s important to look at data from preverbal children to understand the origins of changes in eye contact.  Many scientists also feel that avoiding eye contact snowballs over the lifespan and deprives people with autism from developing social skills.  Infants don’t even know why they avoid eye contact so at the Marcus Autism Center in Atlanta, researchers are using eye tracking technology to answer this question.  The findings have clear implications for early intervention strategies.

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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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The potential role of epigenetics in the sex differences in autism

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On Tuesday November 15th, Tracy Bale from University of Pennsylvania provided an insightful analysis of sex differences in behavioral, physiological and molecular outcomes following prenatal stress.  She outlined the potential epigenetic markers that may lead to resilience in female offspring which has direct implications for autism.  However, prior to Dr. Bale’s presentation, Donna Werling from UCSF briefly outlined the genetic and behavioral data so far about females with autism and why there is a 4:1 ratio in males to females getting a diagnosis.  This webinar is part of the Environmental Epigenetics of Autism Webinar Series co-organized by Autism Science Foundation, Autism Speaks and the Escher Family Fund for Autism.

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What the Trump presidency could mean for autism families

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On early Wednesday morning, the United States woke up to the news that the new president was Donald Trump.  While he hasn’t taken office yet, this podcast reviews his statement on his website or in his Contract with America, as well as thing  published or stated by him or his campaign on his website or in an interview.  The following are covered:  health coverage, Medicaid, mental health services, science and the environment, and education.   The focus is now the proposed changes and policies could affect families with autism.  There is also a special message at the end from David Mandell about how families can deal with the changes ahead.  A transcript of the podcast is available here.

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Precision medicine presents: OXYTOCIN!!!

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Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed.  On a previous podcast, studies in the way the oxytocin receptor was turned on and off were explained which may account for variability in treatment response.  This week, two studies in Japan show that specific mutations in the oxytocin receptor product predict who will respond to oxytocin treatment and who will not.  Therefore, the oxytocin story is one of the first examples of using genetic findings to push better treatment on an individual level, otherwise known as precision medicine.