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Entries in Williams Syndrome (2)

Friday
Mar162012

Williams Syndrome Grows in Awareness, Research

ABC News(NEW YORK) -- “Williams Syndrome is a rare genetic condition — so rare, in fact, that few people have ever heard of it.”

So began an ABC News report from June 9, 2011, a day before ABC’s 20/20 ran a comprehensive story on Williams Syndrome. Now, partly because of these stories, awareness of the condition has increased dramatically, creating various benefits for those with Williams Syndrome as well as their families and doctors.

“Awareness has skyrocketed, for a relatively rare syndrome,” said Terry Monkaba, executive director of the Williams Syndrome Association (WSA). Affecting one in 7,500 newborns, Williams Syndrome (WS) causes a combination of ebullience, empathy, fearlessness, linguistic and musical talent, elfin features, heart conditions and bad teeth.

After the 20/20 story last June, Williams Syndrome was in the top 10 Google trends for three straight days, Monkaba said. The website averaged more than 1,000 hits per day for a month after the broadcast, she added. On an average day before that, it would get 200.

In addition, WSA fundraising is up 35 percent over last year, Monkaba said. The scholarship budget for WSA summer camps has jumped to $135,000 from $35,000 two years ago. The number of camp weeks has grown from four to eight over that period.

With the network attention and awareness has come credibility. “To me, that’s the biggest piece,” said Monkaba.

“If we can say, ‘As recently seen on 20/20, people tend to pay more attention,” Monkaba said. “Science editors have gotten more interested, so general media attention on WS went from slim to 25 touches.” Monkaba reckoned WSA had received nearly as much media attention in the past year as in the previous 29.

The most immediate impact has occurred in the medical community itself.

“It’s pieces like 20/20's that make all the difference,” Monkaba said. “Doctors see it, they go to the website, get interested.” Doctors’ and the public’s heightened awareness has caused more people to be diagnosed with Williams Syndrome, here and abroad, and at younger ages, she said.

In 1986, when Monkaba’s son with the syndrome was a child, people with Williams Syndrome weren’t diagnosed until the age of 8. Now most kids are diagnosed at around 4, she said.

Last fall the National Institute of Child Health and Human Development awarded a $5.5 million grant to scientists from several institutions and disciplines to study Williams Syndrome to learn how genes govern behavior. The study could produce drugs and therapies for those with Williams Syndrome. It could also help those with more-common disorders like autism (which affects between one in 150 and one in 500 newborns) by illuminating how genetic differences affect behavior, Monkaba said.

“Our 15,000 kids may hold the key to helping millions with autism,” Monkaba said. “What a great legacy!”

Watch a preview below, and watch the full story Saturday on “My Extreme Affliction,” a 20/20 special, at 9 p.m. ET.

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Copyright 2012 ABC News Radio

Thursday
Jun092011

Friendly to the Extreme: Living with Williams Syndrome

Jupiterimages/Thinkstock(NEW YORK) -- Williams Syndrome is a rare genetic condition -- so rare, in fact, that few people have ever heard of it. Of about 7,500 newborns, only one will have it. But that one, should you ever meet him or her, will likely have a personality of unforgettable ebullience and warmth. It is the type of personality seen only occasionally beyond the world of Williams Syndrome.

When ABC’s Chris Cuomo of 20/20 attended a camp for children with Williams he was besieged by hugs and slaps on the back. Then came the barrage of questions. "What's your favorite color?" "Where do you live?" "Have you met Barney the Dinosaur?"

Children with Williams are also often identifiable by a variety of facial characteristics, from small, pointed teeth, to upturned noses, to a telltale puffiness under their eyes. But the camp is a place where everybody wants to be your friend regardless of who you are or what you look like.

"Little babies will come up to you, they will stare into your face, and it will be hard to actually disengage from that stare," explained Helen Tager-Flusberg whose lab at Boston University studies the social behavior of children with Williams. "When they're four or five...whether they know you or not, within about five minutes you're their new best friend."

One study by researchers in Europe found that children with Williams show no racial bias whatsoever. While children, even babies, prefer people of their own race, the neural pathway that imprints for race bias is somehow lacking in children with Williams.

Williams Syndrome is caused by the deletion of roughly 25 genes on chromosome 7. The deletion is a purely random event that occurs shortly after a sperm fertilizes an egg. Though there are 20,000 to 25,000 genes in the human genome, even the loss of just 25 genes can have profound effects on a person's physical, behavioral, and cognitive make-up.

Why the deletion of genes causes such friendliness and social disinhibition is not well understood. The development of our personalities is a complex relationship between our social environment and our genes -- both present and not.

If you think most children -- with or without Williams -- are warm and open, you'd be wrong. Tager-Flusberg's research team has recorded hours of video comparing children with Williams to typically-developing children.

In one experiment to test empathy, the adult experimenter fakes banging her knee on a table and expresses a great deal of pain. In many runs the lab recorded, the typically-developing child just watched and expressed no empathy or concern. But children with Williams often went right over to the experimenter to rub her knee and ask, "What's wrong?"

With such empathy comes a lack of fear. Watching a recording of a typically-developing child reacting to a hairy, moving, toy spider, Tager-Flusberg noted, not surprisingly, "She doesn't want to approach it...and doesn't have any inclination to go near to it and touch."

What do most children with Williams Syndrome do when presented with the creepy spider? They pet it. But this lack of fear has a scary side, too. In another experiment, Tager-Flusberg has a stranger enter a room. And not just any stranger, but one wearing a baseball cap and dark sunglasses. As you would guess, children without Williams avoid the stranger like the plague. Children with Williams, however, often engage the stranger in conversation, and in one case we saw a child even offered a toy for the stranger to play with.

Such social disinhibition and innocence can have real-life consequences, and that extends to adults with Williams Syndrome.

Kelley Martin, 34, of Westwood, N.J., has Williams Syndrome; she was bullied by a so-called friend into paying for that friend's expenses. Kelley's mother, Anne, realized what was happening $1,500 later.

"It's very scary," Anne Martin told 20/20. "Because I know what can happen to her if there's nobody watching for her."

Friendliness and fearlessness aside, people with Williams often have a number of physical ailments, including serious heart conditions. Such conditions cause many adults with Williams to survive only into their 40s or 50s.

Copyright 2011 ABC News Radio







ABC News Radio