The ASF Day of Learning Recap

On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC.  If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.

A list of the talks are:

  • Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)
  • Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)
  • Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)
  • Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)
  • Understanding Modifiable Autism Risk Factors – Dr. Craig Newschaffer (Drexel University)
  • Helping People with Autism Develop Practical Skills – Dr. Celine Saulnier (Emory University)
  • New Technologies to Improve Autism Diagnosis – Dr. Robert Schultz (Children’s Hospital of Philadelphia)
  • Understanding the Female Protective Effect – Dr. Donna Werling (University of California, San Francisco)

David Mandell’s presentation on parent/teacher communication was based, in part, on this publication:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676744/

A new clue to autism found in fluid in the brain

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.

Narrowing down gene and environment interactions in autism

With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start?  Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex.  Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection.  In other words, being male and having the mutation produced small changes, increased by the environmental factor.  In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15.  Typically, mutations of this area of the genome are thought to cause autism.  However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations.  These are all examples of scientific breakthroughs that are helping better understand what causes autism.  Even when it looks like one thing, it’s multiple things.

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

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.