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The triple crown of autism research gatherings

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Three important meetings of researchers took place this week.  First, the Interagency Autism Coordinating Committee, or IACC, met for the first time in over a year to discuss the coordination of private and federal efforts in autism research and advocacy.  Also, the Autism Sisters Project science committee met to figure out how they are going to find the female protective factor in autism, and what else the study can do when, and if, it is found.  Finally, a group of researchers who study autism in high risk families, before a formal diagnosis can be made, met to understand how the brains of people with autism are connected.  They also are working on new instruments to better diagnose both males and females with ASD.  Finally, in a press release from Tuesday, the NIH announced a partnership that will substantially improve autism research.  november17

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Someone please determine the real prevalence of autism.

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Media coverage of the new CDC study focused on the new study which used a telephone survey for another prevalence estimate of autism.  This one closer to 2% or 1 in 45.  The study is far from perfect, but it does beg the question:  what is the REAL number?  How many people with autism are there?  The answer is too many, and all those people need help of some kind. You can read the full article here: NHSR87.   Second, a summary of a presentation by David Mandell of University of Pennsylvania who explains what needs to happen to get those great interventions developed in the clinic to the community school systems, where they are needed.

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Is ADHD part of the spectrum diagnosis of ASD?

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A recent study examining some people who lost an autism diagnosis (and were possibly reclassified) reinvigorates the idea that attention deficit hyperactivity disorder may be on the autism spectrum.  It shouldn’t be part of a valid ASD diagnosis, but there may be some symptoms of ASD that overlap with ADHD.  Also, a new editorial emphasizes that while new discoveries are important and exciting, what happens to make them useful for people outside a research study takes a lot of work, time and money.

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Treatments for social reward in autism: inject it, snort it, or possibly smoke it.

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This week saw two new studies on the “love hormone” called oxytocin.  In the first, the IV drip for oxytocin is replaced by a nasal spray.  The results are mild and focused on one type of symptom, but exciting and promising nonetheless.  The second study investigated how oxytocin works in the brain and shows how it interacts with a chemical called anandamide in a region activated by sex, drugs and food.  This may explain why people find social reward pleasurable.  It lays the groundwork for other compounds which may enhance social reward, but more studies are needed.   Finally, a short recap last week’s podcast where High Risk Baby Siblings researchers are finding that the range of possible issues that kids at risk have isn’t focused just on autism symptoms.

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What if it isn’t autism?

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Many times signs and symptoms of autism may be seen prior to 3 years of age, but a diagnosis is not made.  It may not be autism, but what is it?  Studying children at risk for developing ASD but then don’t go on to receive a diagnosis gives researchers a clue.  Dr. Meghan Miller from the University of California at Davis discusses a study that follows up these kids to 9 years of age and finds out what is going on with them.  Do they have autism after all?  Or do they have absolutely no symptoms at all?  Or is there something in between?

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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.