Williams syndrome shows gene-behavior links: Key to autism?

At age three, Ben's developmental delays were already evident. But "his smile could brighten any moment," says his mom. He loved life and enjoyed normal everyday experiences of a typical three-year-old - such as jumping in this pile of autumn leaves.
Terry Monkaba
Terry Monkaba

(CBS) Williams syndrome is a rare genetic disorder marked by learning difficulties, heart problems, and odd facial features, including a short, upturned nose and a small chin. But Williams has been in the news recently because people with it tend to be very, very sociable - and some scientists think research into the disorder may help explain the links between genes and behavior.

PICTURES - Williams syndrome: One boy's inspiring story

"We're on the brink of a whole new world," Dr. Ursula Bellugi, a long-time Williams researcher at the Salk Institute in La Jolla, Calif., told msnbc.com. Speaking of a large-scale research project she's involved with - one supported by a new $5.5.-million grant from the National Institute of Child Health and Human Development - she said, "We want to know: Are there links across the levels from the genes to behavior."

The research could benefit people with autism, said one researcher who has joined the project.

"Even though Williams' behavior is the opposite of autism, it may be influenced by gene activities that push it in a different way through a common process," Dr. Ralph J. Greenspan, associate director for the Kavli Institute for Brain and Mind at the University of California at San Diego, told msnbc.

Williams syndrome occurs in about one of every 8,000 births. There's no cure, but physical therapy, along with speech therapy, can be helpful. Some people with the syndrome are able to function independently, though most live with a caregiver.

The Williams Syndrome Association has more on Williams syndrome. Want to know what it's like to raise a child with the disorder? Click here.