Unfortunate new risk discovered for people with autism and their siblings

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.

Autism and Epilepsy – a brain tissue perspective

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.

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

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.

Intervention studies are about to get better

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.

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

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.

Regression in autism, down to the neuron

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:

 

Screen Shot 2016-02-19 at 10.59.01 AMScreen Shot 2016-02-19 at 10.40.33 AM

How early do females with autism show differences?

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.

 

 

 

Moving the needle towards earlier diagnosis of autism spectrum disorders

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.

Autism Insurance Mandates: Necessary But Not Sufficient For Services

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.

Is ADHD part of the spectrum diagnosis of ASD?

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.