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Webinar: Investigating gene x environment interactions in “single gene” autisms

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On May 4th, Dr. Janine LaSalle from UC Davis and (the soon to be Dr.) Keith Dunaway presented on recent research investigating the role of environmental factors in individuals with Dup15 Syndrome.  Individuals with a mutation on chromosome 15 are often diagnosed with autism and previously it had been assumed that these individuals were destined to have a diagnosis due to their genetics.  Dr. LaSalle shows that many of the genes in a critical region of chromosome 15 are tied to turning genes on and off via a process called methylation.  Environmental chemicals or other exposures may also work on these genes to turn on or off gene expression epigenetically.  The first half of the webinar reviews crucial ideas in gene x environment interactions and epigenetics, the second half describes experiments using brain tissue of those with Dup15 Syndrome and autism, as well as cell lines, to understand the role of PCBs in gene expression.

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Oops the media did it again…

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Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood.  While the study was interesting, the authors were the first to acknowledge the limitations, however, this did not stop the media from misrepresenting the results.  Details are explained in this podcast.  In addition, a big win this week for precision or personalized medicine:  different symptoms and different genetic mutations are linked to different outcomes from different anti-seizure medications.

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A new clue to autism found in fluid in the brain

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Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication.  Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms.  Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head.  Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast.  He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.

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When can you see autism in the brain?

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This week the Infant Brain Imaging Study, or IBIS, published it’s 2nd study on the emergence of changes in the brains of individuals with autism.  While red flags for autism can be seen early, a diagnosis of autism is not typically made until after 24 months of age. Using a baby sibling research design, scientists showed increases in the size of certain areas of the brain between 6-12 months.  This opens up opportunities for even earlier diagnosis of ASD in the future.   Also, a group at Stanford shows the emergence and disappearance of co-morbid symptoms in autism, such as epilepsy, schizophrenia and ADHD, which are dependent on sex and age.  Together, these studies show that autism begins very very early and symptoms and behavioral and biological features change over time.

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New science for those with little or no language

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Even though more than 20% of people with autism have little or no language, research into ways to help this group have really been lacking.  Several efforts to not just understand the abilities and disabilities of this group started a few years ago and we are just starting to hear about what works and what doesn’t work to improve communication in those with little or no language.  This podcast summarizes the evidence, which points to combinations of things, rather than things in isolation, and peeks in on ways in which interventions can be better directed and made more effective.

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What we know about autism by looking in the brain

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On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism.  It covers genetics, neuropathology and immunology.  It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director.  Please click above to watch the 45 minute presentation and questions from the audience.   Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org. 

 

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Why is it so hard to look them in the eye?

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There is an ongoing debate about why people with autism avoid eye contact.  There is data to support both, but as this behavior emerges very early, it’s important to look at data from preverbal children to understand the origins of changes in eye contact.  Many scientists also feel that avoiding eye contact snowballs over the lifespan and deprives people with autism from developing social skills.  Infants don’t even know why they avoid eye contact so at the Marcus Autism Center in Atlanta, researchers are using eye tracking technology to answer this question.  The findings have clear implications for early intervention strategies.

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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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Environment or genetics in autism symptomatology? How about both?

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This week I am in Minneapolis at an incredibly important meeting of Medical Examiners to pitch them the importance of collecting brain tissue for Autism BrainNet.  While I was here I noticed a new study on the blogs that is important for families to hear about.  It focused on a known environmental exposure in established genetic groups.  The authors of the study, led by Dr. Sara Webb at University of Washington, showed that an environmental exposure can modify symptoms in genetically susceptible narrow subgroups.  This is the sort of research that will better describe how environmental exposures are affecting autism risk.   Thank you to Dr. Sara Webb for your perspectives and interpretation of the data!