…..may be overestimating the risk of drowning and suffocation in those with ASD. The study claims a higher rate of drowning and other accidental deaths in people with autism, which is true, but the magnitude of the effect they found was astronomical and misleading given the methodology. They counted people with autism off of information on their death certificate. Not everyone with autism has this code listed on their death certificate – so likely this number is underestimated and the risk of drowning overestimated. The shocking results call for things like swimming lessons in those with autism and other drastic safety measures. People with autism ARE at a higher risk of drowning and we should all pay attention. Ways to prevent accidental death in people with autism are needed and the overall message should be the same. But the numbers themselves are probably a little off.
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.
On March 13th, Dr. Mark Zylka from UNC gave a 60 minute overview of how researchers are using autism-relevant genetic mutations in cells to start to understand the interactions between genetics and thousands of environmental factors on gene expression. He pointed out the convergence of pathways in how genes and these environmental factors worked in the brain, and they included: neuroinflammation, early brain development, turning neurons on and off, and cell signaling. Dr. Valerie Hu from George Washington University commented on the important impact of these results and perspective from her lab studying epigenetically modified genes, like RORA, which also may be sensitive to common chemicals found in our environment. The entire webinar, including the questions that they were able to answer from participants, is found here.
On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published. The press release can be found here. In it, the researchers found even more genes of interest to autism. Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms. But of course, the story gets more complicated than just more mutations – worse behavior. An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different. This shows that adaptive behavior and IQ are important to consider when considering how genetics influence autism symptoms. Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism. Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals. It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.
The brain is developing even after birth. So interventions that are given very early have the best chance of remolding and rewiring a brain with autism to prevent autism related disabilities. This week, a group from the University of London, Duke University and University of Washington measured brain activity during tasks that required social attention following 2 months of very very very early intervention. They found that the way the brain responded to social stimuli was more like those without an autism diagnosis. This study shows a biological marker of brain function is altered after behavioral interventions that are intended to do just that – change the way the brain functions.