October 22, 2009

A Glimpse of New Autism Research

Over the years, I have acquired many autistic patients.  The community of parents is relatively involved in groups of one kind or another, and useful resources are generously shared.  Once they come to me, the parents are generally happy with the service I provide.  Because I take my time and am very careful in establishing some kind of rapport with the child, the kids seem to like me and as a result will allow me to examine them.  The parents, I think, appreciate my very slow approach and willingness to let the child have some sense of control in the exam room—which is often stressful for the non-autistic.

I was lucky to have once taken a course given by Fred Volkmar, and have attended many scientific talks by him.  He and colleague Ami Klin are, in my professional opinion, the people who know more about autism and autistic spectrum disorders than anyone else on the planet.  (Over in my Amazon store, I have put some of the key books that they have written about Autistic-Spectrum Disorders in the section called ‘The Autistic Spectrum.’)  Several years ago, I attended a talk by Volkmar at which he showed video of groundbreaking experiments with autistic people.

They would be shown a clip from a movie.  If I remember correctly, it was a scene from Who’s Afraid of Virginia Woolf?  The movie is heavy on dialog and interpersonal drama, but not too much action.  Subjects in the study were rigged with a camera that tracked the movements of their eyes and mapped that to the screen.  In this way, the experimenter could see and keep track of exactly what the person was looking at on the screen.  Even if the people on the screen were screaming at each other, if you were looking at the sofa, this apparatus would pick it up.

Why did they even try this elaborate experiment?

Though they never discussed it with me, it probably has its roots in the problems people on the autistic spectrum have with social interactions.  Even when their language and intellect is fine, eye contact can be awkward or avoidant.

What they found was that typically-developing subjects would follow the drama by watching the actor’s eyes, and change the eyes they looked at when the speaker changed.  Those on the spectrum kept looking at the actors’ mouths.  As the scene unfolded, this pattern became more and more clear.

Jump forward maybe 5 years or so to today, when I found a recent research study by Klin and others in Archives of General Psychiatry.  Now they used the same kind of apparatus, but had 2-year-old subjects.  They spared the kids all the friction between Elizabeth Taylor and Richard Burton by producing their own carefully-orchestrated movie of a friendly grown-up talking and singing and playing games with them onscreen (like pat-a-cake).

The eyes of the children followed remarkably different paths.  The ASD children looked at mouths.  The typical children looked at eyes.  Even a group of developmentally-delayed children looked at eyes.  The more severely autistic the child, the more they seemed to prefer mouth over eyes.

Wait—is it the mouth that’s so interesting or is it just because it’s moving?  So in another experiment, they showed just an animated outline of the actor, both upright—which you might be able to figure out—and upside-down, which looks nearly uninterpretable.  The experiment was run again with an animation that showed movement coupled with sound, which they called ‘audiovisual synchrony.’  This proved to be the most attractive of all.

Why is this so important?

There are two big reasons that come to mind right away.  First, there is no test for autism.  There’s no lab test, nothing.  With some basic technological standardization, this apparatus and its interpretative software could be an essential tool not just to identify affected children but also to measure how affected they are.  That’s been a dream of those working in the field for a long time.  Often, kids were given the diagnosis because they weren’t speaking, even though their social interactions were generally OK.  Sometimes those with real trouble with their social interactions would not get that extra coaching they need because their language was normal (Dr. Volkmar, by the way, literally wrote the book on Asperger’s Syndrome).  An autism diagnosis was usually dependent on the examiner.  An objective test of any sort would help to figure out if there really is a growing incidence of autism.  And it would enable all of us to figure out if an intervention were actually helping.

But there’s another big reason, though the authors of the study barely hint at it (rightly so, since they didn’t study this).  Research on babies over the past 100 years or so has shown that babies—even newborns—prefer the sight of a human face.  The faces we make when we hold and play with a baby are thought to be essential for both normal brain development and normal development of attachment and social interaction.  What if they show that this aberrant gaze issue is present in infants that eventually have an ASD?  It’s a great thing because kids won’t get diagnosed at 2 or 3 or 4.  Early intervention has a chance, at least, of having a substantial beneficial impact.

And there’s my hidden agenda….  If we hook a 1-month-old up to this camera and show this animation, and the baby is diagnosed with autism, what does that imply—once and for all—about MMR vaccine, which kids don’t get until they’re 12-months old?

Addendum:  I found another interesting research study, though it’s a little heavier in the molecular biology.  This study found that some common genetic variants, all on Chromosome 5, correlated with autistic-spectrum-disorders.  I’m hoping that  this results in prenatal testing.  And then maybe a few more children will get the shots they need.

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