威廉斯氏综合症的表现

STEVE INSKEEP, host:

Next, we'll report on people so in touch with the world they can barely stand it. Last week in Your Health, NPR's Alix Spiegel introduced us to a little girl named Isabelle who has Williams Syndrome. It's a rare genetic disorder. Kids with that syndrome are so sociable and loving that they trust everyone. Today, Alix reports on what happens to adults with that syndrome.

ALIX SPIEGEL: Several years ago, psychologist Karen Levine was attending a conference on Williams Syndrome that was open to both researchers and people with Williams. And one of the activities on offer was a boat tour of the San Diego Harbor. And so Levine says she, her colleague Sara, and about 20 adults with Williams crowded onto this small, sturdy boat and set off.

Ms. KAREN LEVINE (Psychologist): We are out in the harbor and everybody was having a good time. And all of a sudden, everybody except Sara and I, looked to each other and gasped, and they kind of held their arms out to each other, like, oh, my goodness, what happened?

SPIEGEL: Karen frantically scanned the boat: nothing. The water: nothing. The issue, explained the people with Williams, was a sound, a sound that only they would be aware of.

Ms. LEVINE: Turns out, way off in the distance on the shore there was a siren -there must've been a fire engine or an ambulance or something - and all the people with Williams syndrome had heard that.

SPIEGEL: You see, people with Williams have something called hyperacusis. They hear background noise as if it were directly in front of them, and their higher anxiety levels makes sudden noises unsettling.

Those are two symptoms of this genetic disorder, but there are many others, good and bad. On the good side, people with Williams have an extraordinary memory for faces, are extremely verbal, and often incredibly empathic.

Consider this story from a Williams specialist named Barbara Pober, based out of Mass General in Boston.

Dr. BARBARA POBER (Williams Specialist, Massachusetts General Hospital): It was a typical clinic day, and the next patient walked in and he immediately asked me: What's wrong, Dr. Pober? You look sad.

SPIEGEL: In fact, just that morning Pober had gotten some terrible news that she'd resolved to hide from her office. And all day long, none of her colleagues had any clue - none, until her patient with Williams.

Dr. POBER: It's part of the complexity that is Williams syndrome. Patients are very in tune, very empathic, very sensitive to the emotions of others.

SPIEGEL: Williams is uncommon. Only about 1 in 10,000 people have it, and it doesn't run in families.

It's caused by a deletion of around 26 genes on a single chromosome. This deletion produces real strengths, but also serious medical, emotional and cognitive problems. For example, Prober tells me about very verbal teenager who recently came to her office.

Dr. PROBER: And said, and I remember it with great clarity: I've just seen a really nice reproduction of the Mona Lisa at the Museum of Fine Art. Yet, you know, this very same person couldn't navigate from the museum to the hospital, which is a straight shot with one turn.

SPIEGEL: People with Williams, you see, are bad at spatial relationships, and most have to carry a calculator because they can't make simple change. It's hard for them to organize and plan activities, and more importantly, they have intense trouble concentrating. This makes it difficult not only for them to hold a job, but also, Pober says, to fulfill one of their most intensely felt needs: People with Williams are compulsively social and yearn to be surrounded by dear friends.

Dr. PROBER: To me, it's one of the heartbreaks, the sadnesses of Williams syndrome is most are rather socially isolated. I mean, to get to know someone, one has to do turn-taking in a dialogue. You're listening to what I say. I listen to what you say, and then we build on that. And some of this, to sustain the attention and build on the dialogue to really get to know someone, is hard for many folks with Williams syndrome.

The absence of those 26 genes somehow makes the thing that they desire most incredibly hard to attain.

Alix Spiegel, NPR News, Washington.