The latest in autism research
© 2015 Roy Benaroch, MD
Science: it may not always be the fastest, coolest, or sleekest way to get from one place to another. And it certainly is prone to dead ends and tangents. But if you want to really understand what something is all about, real science and real research are your best tools. Some great examples come from a few studies that came out this year about autism.
A British study from May, 2015 (summarized nicely here) looked at sets of twins, looking not only at diagnosed autism but at autistic behavior traits. Bottom line: autism is very largely genetic, as demonstrated by the higher association of autistic traits in identical twins. Since sets of twins largely share the same environmental and family influences, looking at identical (ie sharing the same genes) versus fraternal (sharing genes only as siblings) is a well-established way to separate out genetic and environmental influences. Using Fancy Math, the authors conclude that autism’s roots are found in one’s biologic make-up at least 74% of the time, and perhaps much higher than that. Studies like this will help future researchers concentrate on the most likely candidates for autism’s cause.
Another cool study, this one from the University of North Carolina, took the role of genes even further. We know that about 1,000 genes have been linked to autism—meaning that certain variations are more likely to occur in individuals with autism. What these researchers did is take that further, finding the exact functioning of one of these candidate genes. They found that the gene encoded for an altered protein that incorrectly flags other proteins in a cell for destruction. This causes the appearance of what are called ‘spines’ on cells in the brain—and, sure enough, we already knew that these spines were more common in kids with autism. It’s like connecting a circle—you start by figuring out which genes are present in autism, then figure out what they do, then confirm that the result of having these genes is present in children with autism. That’s how we go from understanding why autism occurs (a change in a gene) to how it occurs. And once we know how it occurs, we can start working on reversing or stopping the process, to preventing the altered gene from causing problems.
The internet is a noisy disco of flashy memes, slogans, and catchphrases. And, of course, ubiquitous Google searches ironically misunderstood as “research.” But those sorts of things don’t help anyone really understand what’s going on. Want to understand and help families with autism? Support the science, not the noise.