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Early Germline Events in the Heritable Etiology of ASDs

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On October 1st, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized a webinar entitled “Early Germline Events in the Heritable Etiology of ASDs”.  The goal was to bring together researchers who study the germline (the sperm and the egg and all cells which pass down genetic information) and those studying the genetics of autism to determine how “de novo” or “new” genetic mutations are happening and how environment plays a role in genetics of autism and vice versa, rather than separating the concepts out into “either/or” .  This is part of an ongoing online symposium series on the epigenetics of autism.  Dr. Amander Clark from UCLA and Dr. Ryan Yuen from SickKids Hospital presented and a panel of experts including Lisa Chadwick from NIEHS, Patrick Allard from UCLA, Stephan Sanders from UCSF and Janine LaSalle from UCDavis commented.  We hope you enjoy the 2 hour webinar.

 

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Rare vs. common genetic variation in autism? They are both right.

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This week’s podcast summarizes a new study which finds that in some people with autism, it takes just a few small mutations in a few key autism genes to lead to a diagnosis.  This is called the ‘rare variation theory’, but while it has been pretty well established, researchers still don’t know where these gene mutations come from.  A new joint ASF/AS/Escher Fund online symposium on October 1st from 1-3PM EST explores this issue.  Register here:

http://www.autismsciencefoundation.org/news/free-webinar-interaction-enviornment-and-genetics-autism-october-1st

Also, detecting early signs and symptoms is the key to intervening at a key critical time in brain development.  These early signs include stereotypy and sensory symptoms and patterns of these behaviors are different in people with autism.  How?  Listen to the ASF podcast to hear more.

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The sad realities behind educational services and ASD

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Whoops, Donald Trump did it again.  During the Republican debates, comments around vaccines and autism were made that could cause more confusion.  This at a time when the matter should be settled in the minds of the public.  ASF president Alison Singer comments on what people should know.  Also, a new analysis examines the types of services people with developmental delay and ASD receive in the educational system.  Here’s a not-surprising sneak peak:  they are getting less than they deserve and have to go elsewhere despite laws stating otherwise.  Finally, an older drug for depression, called Effexor, may both relieve behavioral problems associated with ASD and lower the doses of anti anxiety drugs and antipsychotic drugs needed to calm irritability and aggression.

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Sex differences in autism symptoms, and anxiety and depression too

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Dr. Katherine Gotham from Vanderbilt University graciously joins us to talk about changes in anxiety and depression in females and males with autism across time and why these findings have consequences for diagnosis and treatment of not just autism but co-occuring conditions.  Also, males and females with autism have differences in brain structure that may explain some symptoms of autism.  You may have read the story in the media but hear the breakdown on this week’s podcast.

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Females with autism and the idea of an ‘extreme male’ brain

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New studies were published this week highlighting differences, or lack of differences, in males and females with autism.  This podcast explores one of these theories called the ‘Extreme Male Brain’ theory which is actively studied by Simon Baron-Cohen’s lab in the United Kingdom.  While this theory suggests that males and females with autism are more alike than different, another study focused on those individuals with autism who were not diagnosed until later in life.  Were they able to mask their symptoms for autism and slide under the radar and how?  In this group, males and females are more different than alike, which reinforces the ideas that you can’t study people with autism without studying people without autism, and that the differences between males and females may be subtle, based on context, and time of life.

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Unique strengths in some people with ASD

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We almost always hear about how people with autism show deficits in certain behaviors, but what about features that may be an advantage?  A new study from the UK offers some scientific insight on how people with autism exhibit thinking styles that are not as fixed and rigid as ‘neurotypicals’.   Where does this come from?  And is it on the opposite of the genetic coin as things that produce problems in people with ASD?   I mention one task in the study, here’s the image:

Screen Shot 2015-08-21 at 8.44.13 AM

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Deciphering the US Preventive Services Task Force Recommendations

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The United States Preventive Services Task Force is a group of physicians that reviews systematic reviews of evidence around screening for prevention of disease like mammograms for cancer and aspirin for heart disease.  Last week they released their recommendations for screening all children in primary care settings for autism spectrum disorders.  Unfortunately, they concluded that there was insufficient evidence to make any sort of recommendation and needed to see more direct evidence.  In a statement by ASF, Autism Speaks and AAP, each organization has outlined why they disagree.  In this week’s podcast, I will try and break down where the USPSTF is coming from, why they are wrong in their interpretation, and point to a recent study led by Dr. Laura Schreibman at UCSD which argues that the differences noted across studies evaluated by the task force are not differences at all, that the interventions are more common than previously considered – and consistent in their findings.   This article, by the way, is a great resource and can be found here:  http://link.springer.com/article/10.1007/s10803-015-2407-8

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All about chromosome 15 and autism

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One way to identify which treatments will help which people is to studying them in people with autism and known genetic causes.  This week, I traveled to the Dup15 meeting in Orlando, Florida to participate in a science discussion around how researchers are learning about individuals with this mutation and autism to understand their particular features so more personalized interventions can be delivered.  This includes epilepsy, sleep issues, and behavioral interventions.   I was honored to be a part of the parade at the meeting, and here some some images of these amazing families. photo[1] photo[2]

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Those ‘brains in a dish’ are not enough

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This week saw the publication of a remarkable new study that took skin cells and turned them into brain cells.  No joke.  This technique allows researchers to study the autism brain during very early development. But it isn’t sufficient to study and understand the brains across the lifespan of people with autism.  The only way to do that is with postmortem brains of people with ASD.   Because of this resource, researchers discovered a new type of genetic mutation associated with ASD – one that redefines how scientists view all of the DNA.  TO REGISTER FOR THE AUTISM BRAINNET GO TO WWW.TAKESBRAINS.ORG.  Also this week, beyond genetics and brain tissue research, a meeting in California applied a technique to the air pollution and autism data to understand and make sense of the multiple studies showing an association.

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Can people with autism lose their diagnosis?

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Researchers have been studying a small group of individuals who were diagnosed with autism, then later no longer met criteria for diagnosis.  Most of these people received early intense behavioral intervention before the age of 3, and what is called “optimal outcome” by researchers is the exception, not the rule.  However, a new study explores where they are no longer showing symptoms, and where they still are.  Also, ASF postdoctoral fellow Aarthi Padmanabhan explains her data on the brain structure of girls and boys with autism.  A sneak peak:  girls are different than boys.