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Spring-Summer 2000
Vol. 62, No. 3

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Notes on Research
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EXPLORING THE GENETIC ROOTS OF AUTISM

A professor of obstetrics and gynecology at the Medical Center who has been investigating the early stages of autism has found evidence suggesting that genetic factors are a major cause of the disorder.

In an article in the February issue of Scientific American, the scientist, Patricia Rodier, reports that environmental factors play a secondary role in how genes might be expressed.

Rodier's interest in autism began in 1994, after learning that researchers studying victims of the thalidomide disaster of the 1960s had discovered a high rate of autism in these people. The subjects with autism had been exposed to thalidomide in the first month of gestation, before the time when thalidomide causes limb defects.

It was previously believed that autism developed during late gestation or early postnatal life, but Rodier says there was no evidence to prove either theory.

The connection with thalidomide, though, "threw a brilliant new light on the subject," Rodier says. "It suggested that autism originates in the early weeks of pregnancy, when the embryo's brain and the rest of its nervous system are just beginning to develop."

The research has led Rodier to conclude that the brain stem of some people with autism is shorter than a normal brain stem, and that the structures at the junction of the pons and the medulla are closer to the structures of the lower medulla.

It is, she says, "almost as if a band of tissue is missing in children who have autism."

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