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The world agrees on studies of early autism. Find out what they think.

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Studies of very early signs of autism, even before an official diagnosis can be made, has led to better recognition of early signs and driven earlier and earlier interventions.  These interventions have improved the lives of people with autism.  The biological signs like brain activity, structure and genetics could further improve early intervention paradigms that look at biomarkers rather than just behavioral features.   Studies of these early signs are best looked at through symptoms in younger siblings of those with a diagnosis, who have a 20x higher risk of ASD compared to those who do not.  To move to even more high impact discoveries, researchers need more families to participate.  But what do families really think of this type of research?  Adults and parents agree on the value of understanding the early signs of autism, but not always about what to call it.  This week’s podcast explains.

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Regression in autism, down to the neuron

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On Friday, February 19, the NIH organized a workshop on regression in autism.  It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome.  Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation.  Because the genetic mutation is know, researchers have been able to make huge advancements in the study of the cellular causes of regression.  Do they apply to autism?  The theory of overturning is presented and discussed in the workshop and on the podcast.  You can see the full agenda at:  https://iacc.hhs.gov/non-iacc-events/2016/loss-of-skill-agenda-february19.shtml

Here are some screen shots of the workshop:

 

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How early do females with autism show differences?

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Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces.  This is in stark contrast to findings in boys.  Together with other data, the authors conclude that this early social behavior may mitigate, or protect against, the symptoms of ASD later on in life.

In the second half of the podcast, the new supplement to the journal Pediatrics is summarized, which includes important new guidelines and recommendations that affect people with autism.  As promised, here is the link so you can see for yourself.

 

 

 

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Moving the needle towards earlier diagnosis of autism spectrum disorders

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This week, the CDC published data that showed that the average age of first developmental evaluation for concerns was lowered by 5 months.  Five months is a lot to a family whose child is suffering and in need of help.  Separately, research out of Houston shows that many families are able to skip the formal evaluation and receive intervention prior to an established diagnosis based on demonstrated need that the child needs services.  This was the good news in autism, and while there is still a lot to be done especially with regards to racial and ethnic differences, public health is moving in the right direction on this issue.  But not all people with autism view their differences as symptoms or a disability.  What can we learn from people who use sign language to communicate to inform us about the way some people with autism communicate?  A special meeting called Conversations in Autism and Sign Language (CASL) brought experts and individuals on the spectrum to discuss.

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Autism Insurance Mandates: Necessary But Not Sufficient For Services

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Autism insurance mandates are wonderful.  They require insurance companies to pay for screening, diagnosis and treatment and services for people with autism.  But just because insurance will pay for it does not mean that it’s out there.  The idea of “build it and they will come” for insurance mandates is on it’s way, but not quite there.  Dr. David Mandell from University of Pennsylvania explains why in a new study.  Also, single genes that are associated with autism are a great start to look for causes and subtypes of people with autism, but they aren’t the final word to resolve the heterogeneity of ASD.  If you didn’t read the new story about new findings in brains of people with autism, read more on the ASF website.

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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