Archives for the month of: September, 2009

Older women are much more likely to have a child with autism than are older men, but the exact risk varies with the sociological factors in any given year, according to a controversial report published in the September issue of the American Journal of Public Health.

The prevailing wisdom, based on several high-profile studies, is the opposite: that men older than 40 have up to six times the risk of their younger counterparts of fathering a child with autism, whereas older women have little — if any — increase in that risk. The authors of the new report say that those conclusions are the result of a statistical fluke that exaggerates the real risk for older men.

In their study, they analyzed nearly 5 million birth records of children in California, and calculated that the risk of having an autistic child for women older than 40 varied between 1.27 in 1995 and 1.84 in 1993, compared with the risk for women younger than 30; the corresponding risk for men older than 40 ranged from 1.29 in 1992 to 1.71 in 1995.

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SFARI, September 2009.

It was late 1972, and Michael Wigler, then a 25-year-old medical student at Columbia University, was feeling downcast. Wigler had begun his medical training two years earlier after graduating from Princeton University with a degree in mathematics, renouncing what he thought would be the socially withdrawn life of a mathematician for a career that was more “socially useful.”

But medicine, too, was giving him little satisfaction.

Wigler lives by a handful of axioms: an apple falls when you drop it; every human is equally “weird;” and nearly every human opinion is flat-out wrong.

But doctors make life-or-death decisions based on other people’s research, which is often ambivalent or inconclusive.

“There’s a small set of things that I have good evidence to believe are true, and I base everything on them. You can’t do that and be a doctor,” he says. “I just couldn’t live like that.”
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When they were young, Matthew Belmonte and his older brother, John, were fascinated by the same obscure sights: the rise and fall of shadows under streetlights when walking down the street, or individual specks of dust revealed in a beam of sunlight. They both enjoyed rocking back and forth to the high-pitched hum emanating from an old television. But in at least one respect, the boys were markedly different: Matthew had a huge vocabulary, and John didn’t speak.

“Even though he wasn’t speaking, I had the sense that I saw what he saw, and he saw what I saw,” Belmonte recalls. “I always knew that he and I thought in the same way.”

John had been diagnosed with autism in 1964, a few years before Matthew was born. In 1998, their sister’s daughter was also diagnosed with autism.

Inspired partly by his family’s struggles, Matthew, an assistant professor at Cornell University, studies perceptual experiences and cognition in people with autism.

Among autism researchers, he is one of many with close family ties to the disorder.

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SFARI, September 2009.

Here’s a hypothetical question for any parent of a young child: Would you give your child a genetic test for a disease with an uncertain onset age, mild symptoms and no treatment? How about a test for a condition that leads to severe disability?

A report published last week in Pediatrics was the first to ask parents about their genetic testing preferences in a statistically rigorous way. Tallying 1,342 responses, the survey found that when asked about untreatable diseases, about one-third of parents are definitely or probably interested in testing, one-third are definitely not or probably not interested, and one-third are unsure. Those numbers stayed consistent regardless of the severity of the disease in question.

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SFARI, September 2009.