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Sisters, sisters, there never were such devoted sisters

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A special podcast this week on the Autism Sisters Project, in partnership with Icahn School of Medicine.  I talk about how the idea came about, what ASF is doing to help find out what sisters can contribute to the science of autism, and why sisters are in a unique position to do so.  Please read Lauren Singer’s special letter to the editor to Molecular Autism about being an undiagnosed sister here: http://www.molecularautism.com/content/pdf/s13229-015-0046-8.pdf

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A traditional strategy in autism intervention may be hurting not helping.

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Two interesting studies this week.  The first from researchers studying a learning strategy called repetition.  As it turns out, it may impair the ability for people with autism to generalize what they learn into new situations, like learning that a golden retriever is a dog and a beagle is also a dog.  Also, researchers in Australia comb the autism literature to determine what the financial costs and benefits of supportive employment are and discover that getting people with autism employed is good for the soul and good for the economy.  That study is open access and can be found here:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139896

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Moving away from genes OR environment towards genes AND environment

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On Thursday October 1st, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized an online symposium which examined the possibility that early mutations in cells that pass along genetic information from generation to generation (sperm and egg and cells that make the sperm an egg) has a role in the causes of autism.  This symposium is on the ASF podcast feed, but a quick summary is presented on this week’s podcast.  Jill Escher from the Escher Fund for Autism and Mat Pletcher from Autism Speaks provide their perspective.  Also, a quick rundown on the study that caused so much monkeying around in the press.

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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