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Where the wild new genetic hot spots are

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Three new studies, all with the common element of inclusion of ASF postdoctoral fellowships as authors, appeared this week using whole genome sequencing technologies to look at new areas of the genome.  Not just new genes, but totally unexplored ares of DNA that were only possible to examine through these newer technologies.  They are called regulatory non-coding regions, because they regulate genes known to be associated with autism – but don’t code for any proteins.  Interestingly enough, they are carried by the unaffected father.  As one of the authors on the studies and guest on this podcast, William Brandler explains, they regulate genes, they don’t cause autism, otherwise the non-affected fathers would not be non-affected.  Another ASF fellow, Donna Werling, published an analysis which called for careful consideration of the statistics around these findings.  After all, this is a relatively unexplored territory.

 

https://www.ncbi.nlm.nih.gov/pubmed/29674594

https://www.ncbi.nlm.nih.gov/pubmed/29703944

https://www.ncbi.nlm.nih.gov/pubmed/29700473

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Clinical trials talk with Tom Frazier from Autism Speaks

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This week, a special surprise:  a conversation with Dr. Thomas Frazier, Chief Science Officer of Autism Speaks, on what is needed for better clinical trials for drug treatments for ASD, and what they are going to be doing to help move the science along.  Of course, the conversation hit on other topics, like disclosure of a diagnosis, sex differences, and some of the newest more exciting findings in autism research.

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Just to be clear: people with Aspergers are not Nazi’s

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This week, a disturbing report from Molecular Autism published by an Austrian historian with no affiliation with autism, linked Hans Asperger to a eugenics facility in Germany and labeled him a Nazi sympathizer.   This was the first investigative report of the link using primary documents.  He had previously been considered a hero from trying to save his patients from the gestapo, and plead for them to be rehabilitated.    So which is true?   Hero or potential war criminal?  Maybe both.  This podcast goes through the 43 page article with the message that:  if you have Aspergers, you are not necessarily a Nazi.  Don’t let anyone tell you that, and if they do, email me at ahalladay@autismsciencefoundation.org

 

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The ASF Day of Learning mini-recap

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Did you miss the ASF Day of Learning in NYC but want to hear some teasers before they are available online?  Listen to this week’s podcast, and you’ll hear the 12 minute talks distilled to 2 minutes, leaving out a lot of details and eliminating the video part but giving you a quick recap of each.  Topics this year included:  1) What have we learned this last year?  2) Are Boys and Girls with Autism Different? 3) Does diet make a difference in autism?  4) Is medical marijuana a treatment option? 5) Why won’t my child sleep and 6) How can we improve adult outcomes in people with autism?  ASF also announced 8 new pre and post-doctoral fellowships on Wednesday, filling out an already amazingly active autism awareness month.   Stay tuned for the complete presentations to appear on the ASF homepage.

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Through the years

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Rarely can individuals with autism be studied more than once – but a new study tracks how cognitive and adaptive behavior changes over time.  What researchers in the British Autism of Infant Siblings, or BASIS found, was that family history of autism meant as much to cognitive and adaptive behavior than an actual autism diagnosis.  This calls for close monitoring of siblings of those with autism, regardless of whether or not they had a diagnosis.  Also, investigating psychiatric issues in children may underestimate their prevalence because many psychiatric issues do not emerge until the teenage years, so Kaiser Permanente looked at medical and health records of those with autism at 14-25 years to see what other issues they were facing, and the findings are both sobering yet maybe a little comforting.

Please watch the UN WAAD event here:

https://www.youtube.com/watch?v=Tyhm7p8Gr2A&t=7943s 

The two studies mentioned in the podcast are:

https://www.ncbi.nlm.nih.gov/pubmed/29616486

https://www.ncbi.nlm.nih.gov/pubmed/29610415 

 

 

 

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Here’s to understanding why people with autism have anxiety in adolescence

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Using resources from the Autism BrainNet, researchers from UC Davis show specific brain changes in an area called the amygdala in autism.  The amygdala is associated with fear, emotion and anxiety in people with autism.  But because they can look at the brain directly,  the actual number of neurons in the amygdala can be counted not just in one individual, but in over 50 individuals across ages 2 to 50.  This remarkable study showed that too much activity in the amygdala early may lead to impaired function later on.  This could be caused by too many neurons which are present early on in life in people with ASD, and reflected by fewer neurons later on in life.  These difference can only be detected through looking directly at brain tissue.  To learn more, register for the Autism BrainNet at www.takesbrains.org/signup.

Here is a link to the paper:  http://www.pnas.org/content/early/2018/03/19/1801912115.long

Dr. Avino will be answering questions about this paper on a Q&A on April 9, 2018 – please register here:  https://register.gotowebinar.com/register/7051754498195523073

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Why the Environmental Protection Agency is important for autism

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The Environmental Protection Agency has a big job to do – keep our air and water clean.  They do so, in part, with air monitors placed across the United States which allow researchers to keep tabs on what is going on in our air.  This week, a study from Dr. Amy Kalkbrenner at UWM and colleagues replicated that certain types of air pollution increased risk of autism, as well as increased symptoms of severity of autism in those with a diagnosis.   These pollutants come from cars, but also coal burning power plants.  This new research calls for more action, not less, by the crucial staff and infrastructure of the EPA and policy to help support them do it.  #standwithEPA

https://ehp.niehs.nih.gov/ehp1867/

 

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Loss of skills in autism partially explained

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Is regression a sudden loss of previously acquired skills or is it the gradual decline in a particular area of function?  Using the right tools, both parents and clinicians can document the gaining and loss of skills in different areas, and they agree on what they see.  However, rather than being a single event, regression is slow, starting at around 12 months and showing continual declines through diagnosis.  Thanks to an NIMH day long symposium on the biological causes of regression, scientists got together to discuss this loss of skills on a biological level.  They think that the decline or loss of skills is due to biological events that disrupt the formation of specific brain circuits at critical times in development.  This can be because neurons stop developing, or maybe the brain goes overboard in shaping and pruning back connections.  If you want to see the amazing full day of presentations that aired in 2016, click here:  https://videocast.nih.gov/Summary.asp?file=19500&bhcp=1.  A link to the Ozonoff study described in the podcast is here:  https://www.ncbi.nlm.nih.gov/pubmed/29524310

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SLEEP: it’s what’s important for autism

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Sleep disturbances affect up to 80% of people with autism, and as it turns out, these sleep problems translate to daytime problems like probability of hospitalization, severity of symptoms and even employment.  This week’s podcast focuses on three new studies that examine the relationship between sleep problems and function in people with autism across the spectrum, and provides new insights on how to study sleep.  Dr. Ashura Buckley from the NIH will be speaking about sleep in autism at the Day of Learning on April 11th – if you have’t registered yet, there is still time:  https://www.eventbrite.com/e/2018-autism-science-foundation-ted-style-autism-science-conference-registration-39878706284

Articles used in this podcast:

https://www.ncbi.nlm.nih.gov/pubmed/29500758

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660229/

https://www.ncbi.nlm.nih.gov/pubmed/29455555

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Commonly used drugs that may help autism

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Sometimes treatment targets come from the places you wouldn’t expect.  This week, three new studies on the biological and sometimes, behavioral, effects of three commonly used compounds used to treat high cholesterol, edema, and angina were studied in people with autism.  Instead of focusing on just the behavior however, these studies took the approach of examining them from the behavioral side, determining if there was a biological reason why these compounds should be helping people with autism.  This means autism research has turned a corner – it’s not just about behavioral improvements, but about how the drug is working in the brain.  Also, a fun study about social media in people with autism.  They don’t just use it like the rest of us, it actually makes people with autism happy.

Here are the studies included in this week’s podcast:

https://www.ncbi.nlm.nih.gov/pubmed/29485900

https://www.ncbi.nlm.nih.gov/pubmed/29484909

https://www.ncbi.nlm.nih.gov/pubmed/29484149

 

https://www.ncbi.nlm.nih.gov/pubmed/29483603