New (questionable) claims for a cause of autism

Every so often a science news story comes along proclaiming that we are on the cusp of a revolutionary new understanding of autism spectrum disorders. In the past few years, research showing that genes, environmental factors, or some combination of the two cause or contribute to the development of autism have cycled through the media. Yet today we still know so frustratingly little about what causes autism and what the best treatments for it are. Never mind that we have a long way to go in providing consistent and first-rate services for all autistics (both children and adults at all points on the spectrum) and their families.

I don’t want to sound too cynical, because there are many researchers hard at work making progress in these areas. But I will say that the media still largely fails autistic people, their families, and the general public in reporting on autism. And although scientists do have a responsibility for how their research is communicated to the public, the presentation of that research also requires a deft pen, computer, tablet, or whatever your writing instrument of choice is.

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"Robot X-treme" by Andrew Joseph Smith, who is diagnosed with Asperger's Syndrome. Andrew started drawing just before 18 months of age. (Gallery at Children's Hospital of Philadelphia's Center for Autism Research)

Exhibit A: a story from Sunday’s New York Times by veteran science writer Gina Kolata—“Autism’s Unexpected Link to Cancer Gene”—which highlights research connecting the gene PTEN to a role in both the development of cancer and autism.

There is so much wrong with this story, as Emily Willingham, an outstanding blogger and a scientist herself, wrote on her blog at Forbes.com. The Times story suggests that PTEN is a cause of autism. “Some people with autism have mutated cancer or tumor genes that apparently caused their brain disorder,” writes Kolata. One researcher even calls the connection “eerie.” But this just isn’t true. At least, not yet. All that we know at this point is that there is an association between about 1% of cases of autism and the gene PTEN. Whether this amounts to a direct “cause and effect” link remains to be shown. (As scientists study more and more possible relationships between autism and other factors, they are finding more and more associations. A study published Monday in the journal JAMA Pediatrics found an association between autism and induced labor. That need not mean that inducing labor causes autism; it may be that some  underlying problem with the pregnancy is responsible for both.)

The bottom line, as Willingham points out, is that the Times article “will conflate autism and cancer yet again in people’s minds and lead parents of autistic children to worry that now, they must also angst about a predisposition to cancer.” She also scolds the paper for its “careless comparison of autism and a fatal disease.” “Autistic people and their families deserve more care than this,” Willingham concludes, “and readers of the New York Times deserve careful, accurate science writing placed in an appropriate context.”

Note: Autism risk communication is an area I’ve given some thought to in my academic work. Here and here are two recent papers I’ve co-authored on the subject.


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