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What is the can do vs. the will do of autism?

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Often overlooked in intervention studies, it is becoming increasingly clearer that adaptive behavior, the “will do” vs. the “can do” of functioning, should receive more focus.  In people with autism and high IQ, cognitive ability, the “can do” is higher than adaptive behavior, the “will do”.  Why?  The key in new research from the National Institutes of Health may be social abilities.  Another study this week from Children’s Hospital of Philadelphia in adult  with high IQ demonstrates that social motivation may be the key to improving social skills and socialization in people with ASD.

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The good, the bad and the ugly about medication use in ASD

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This week’s podcast summarizes recent evidence on why there is good and bad in treating autism with medication, but there is also lots of ugly.  While new medications are being developed and researchers are looking into new ways of measuring change across time time, medications are not effective in treating the core symptoms of autism and they have pretty harsh side effects which, you guessed it, are dealt with by prescribing more medications.  There are a lot of reasons to be hopeful about the future of medication use in autism, but lots of reasons to feel frustrated too.

 

Here are some of the articles that were cited:

https://www.ncbi.nlm.nih.gov/pubmed/23101743

https://www.ncbi.nlm.nih.gov/pubmed/25885012

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520775/

 

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Chromosome 15-apallooza

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One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.

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Why is there a link between c-sections and autism?

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Happy New Year!  Over the holiday break, a the largest study so far including the most number of countries analyzed the risk of having a c-section and autism.  They found a consistent increase risk that wasn’t due to cause of the c-section or the age of the infant (preemie or term).  So what is going on?  This week’s podcast warns against the unintended consequences of linking c-sections to autism and offers an explanation of the findings in addition to what the study authors provide.

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Unfortunate new risk discovered for people with autism and their siblings

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In addition to risks of anxiety, ADHD, mood disorders and other psychiatric issues, people with autism (and their siblings) show increased risk of substance abuse issues.  This information comes from a large scandanavian registry study that included over 26,000 individuals with ASD.  On this week’s podcast I discuss what this means for people with autism and their family members.

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Autism and Epilepsy – a brain tissue perspective

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On October 14th, the Autism BrainNet hosted it’s first webinar around how brain tissue findings affect people with autism.  First, Shafali Jeste, MD, from UCLA explained what seizures were, how prevalent they were in people with autism, and what the risk factors for them were in ASD.  Next, David Menassa from Oxford University described recent findings in brain tissue which showed how glia cells, or the cells of the brain that support neurons, are affected in ASD and how epilepsy affects these changes.  The introduction of the webinar is missing but only for a few seconds.   Thank you to Drs. Jeste and Menassa for participating in such a great informational event and for everyone that registered.

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IGF-1 might be the next big thing in autism treatment

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This week’s podcast summarizes a new neural stem cell study and a recent review article on IGF-1 treatment in developmental disorders. IGF stands for Insulin Growth Factor and is essential for generation of new neurons, and shaping and health of existing neurons.  Patients with autism spectrum disorder are already starting to be treated with IGF-1, and now there is even more evidence validating it as a target.  If you are interested in participating in a research trial at Mt. Sinai School of Medicine using IGF-1, call the Seaver Center at  212-241-0961.

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Intervention studies are about to get better

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Studies looking at interventions in autism have been plagued with issues of what treatments will work best in what people, and use of instruments to detect change that were never designed for use in people with autism. Recently, a new instrument was developed to look at improvements in social – communication in autism. This the first of it’s kind and will lead to better interventions to help people with ASD. Also, new research is using biological markers of autism to look at the effectiveness of interventions. The findings are still early, but promising and will help find out what types of treatment are best in which people.

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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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