An article from Discover magazine by Robert Finn
People with Williams syndrome are smart and mentally retarded, gifted and inept at the same time. Their disorder remains a mystery.
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This article appeared in the June 1991 issue of Discover magazine. It is © 1991 by Robert Finn. All rights reserved.
Anne Louise McGarrah can't add 15 and 25. Yet she is an avid reader and quite articulate about it. "I love to read," she says. "Biographies, fiction, novels, different articles in newspapers, articles in magazines, just about anything. I just read a book about a young girl -- she was born in Scotland -- and her family who lived on a farm. I love to read books because I can put myself in that book and be in there with her and watch her go through these experiences."
At 42, McGarrah has difficulty telling left from right. Yet she plays the piano and the recorder and appreciates classical music: "I love listening to music. I like a little bit of Beethoven, but I specifically like Mozart and Chopin and Bach. I like the way they develop their music -- it's very light, it's very airy, and it's very cheerful music. I find Beethoven depressing."
If McGarrah is asked to get several items from a cupboard, she'll get confused and come back with only one. Yet she's one of the most sensitive people you're likely to meet -- and she's very aware of her own condition. "I get a lot of people staring at me," she says. "One time I had a very weird experience. I was in the store, and I was shopping, minding my own business, doing my usual, regular shopping. A woman came up to me, and she was staring and staring and staring at me, and the next thing you know she ran away. It was very odd. I felt really, really bewildered by it. I wanted to talk to her and I wanted to ask her, 'Well why are you staring at me? Is there something wrong? Can I help you to understand that I have a disability? I'll be glad to answer any questions you have about it.'"
McGarrah, like an estimated 5,000 to 25,000 people in the United States, has a rare genetic disorder that is sometimes called elfin-face syndrome. Its proper name is Williams syndrome, after British cardiologist J.C.P. Williams, who first described it in 1961. Williams noted that people with the disorder have a characteristic narrowing of the aorta, the main artery leading from the heart, which can give them extraordinarily high blood pressure. He also noted their distinctive appearance: They tend to be short and fine-boned, and they have narrow faces with broad foreheads, depressed nasal bridges, and sharp chins. Their eyes are widely spaced and often have a beautiful star-shaped pattern in the iris. In sum, they bear a faint resemblance to fairly-tale elves or pixies, which is why some people call them "pixie people" and stare at them in public.
What is really interesting about McGarrah, however, is not her looks but her mind. Williams syndrome turns topsy-turvy our notions of intelligence. We tend to think of intelligence can't be a single quantity, one that can be measured, say, by an IQ test. But people with Williams syndrome can show lots of intelligence in certain areas -- language, music, and interpersonal relations, for example -- and yet their IQ is typically between 50 and 70, low enough to qualify them as moderately to mildly retarded. They also tend to have limited spatial skills and motor control; many, for example, can't tie their shoes or cut with a knife. And most people with Williams syndrome, like McGarrah, are terrible at arithmetic.
It is this strange mix of metal peaks and valleys that has begun to fascinate psychologists and neurobiologists. When they understand Williams syndrome, they figure, they'll take a giant step toward understanding normal mental processes.
The awareness of Williams syndrome as a distinctive mental disorder has been growing slowly. Even though she has been living with her condition for more than four decades, McGarrah was properly diagnosed only recently. This past August she attended her first convention of the Williams Syndrome Association -- a support organization formed in 1982. People who have Williams syndrome all look odd in the same way, and that can make a convention of them seem a bit like a family reunion. "I never had seen anyone who looked like me until just coming to this convention," says McGarrah. "I was shocked! It was like -- there's a person who looks like me! I look like them. This is quite amazing."
As it happens, Williams people make perfect conventioneers. Their faces are usually spread out in a broad smile, and from an early age they are wonderfully outgoing. "If I had to choose a kid with a special need, I'd choose Williams syndrome," says Jane Smith [not her real name], whose three-year-old daughter, Sally [not her real name], has Williams. "There are so many things in the syndrome you want to embrace. They're loving, they're gregarious, and people adore Sally."
Another parent, Lyn Messner, echoes the sentiment. "I learned a lot from Katey," she says of her 22-year-old. "When Katey was a little girl I was 23 and self-conscious. And here I had this little girl with all these problems, and she'd walk into a room with a group of people, never shy, never self-conscious, and say, 'Hi, my name's Katey. What's your name?' I would think, How did she do that? She makes it look so easy. She taught me how to forget about myself and just meet people."
Such extreme openness and friendliness has its worrisome side, though. A child with Williams syndrome thinks nothing of going up to a complete stranger and saying, "I'd like to give you a hug." Parents of such children fight an uphill battle to teach them to suppress their natural friendliness so they won't be exploited. A child with Williams syndrome can be taught that it's not right to approach strangers, and can easily repeat these instructions on command. Yet the next time he's in the mall he'll put a big smile on his face and start begging hugs from passersby.
This difficulty in applying a well-learned rule to real-life situations is an example of a central feature in the disorder: the disconnection between linguistic ability and understanding. People with Williams speak fluently, and yet they often seem to miss the underlying point of what other people are saying. And this peculiar disablity is what got Salk Institute neurolinguist Ursula Bellugi, well known for her groundbreaking studies of language representation in the brain, interested in the syndrome.
For the last several years Bellugi has been studying the linguistic, spatial, and other cognitive abilities of people with Williams syndrome. She compares them with normal subjects, but she also matches them with people of the same IQ who have Down syndrome. The comparisons have yielded some interesting insights.
One thing Bellugi has documented is the peculiar richness of the Williams child's vocabulary. For example, when she asked a child with Down syndrome to name all the animals he could think of, the reply was "Dogs, cats, fish, bird, fish." A Williams child of the same age and IQ answered, "Brontosaurus, tyranadon, brontasaurus rex, dinosaurs, elephant, dog, cat, lion, baby hippopotamus, ibex, whale, bull, yak, zebra, puppy, kitten, tiger, koala, dragon."
This tendency to come up with unusual or unexpected words occurs in spontaneous conversation as well. Bellugi remembers one time that an 11-year-old girl emptied a glass of milk in the sink saying, "I'll have to evacuate it." Another child handed her a drawing and said, "Here, Doc, this is in remembrance of you." And at the recent meeting of the Williams Syndrome Association, 34-year-old Jan Storvick was telling her life story to an auditorium full of people. Discussing her placement in regular high-school classes, she recalled, "They said that I had the genius of a regular student." As Bellugi puts it, these usages are "syntactically correct, but semantically just a little off the mark."
Another unusual aspect of Williams syndrome is that the onset of language is often delayed. But in some cases, once the child starts talking, language abilities seem to develop at a faster rate than in a normal child.
Alex Biescar is a good example. Even at the age of three he hadn't uttered a single word, not even mama or dada. Then one day he happened to be at his speech pathologist's office, waiting in the reception area. A whirring floor fan caught his attention, and since Alex shares a common Williams fascination with spinning things, he approached the fan and began staring at it. Concerned that he might stick his fingers into the fan, the receptionist switched it off. Alex switched it back on. She unplugged it. Alex plugged it back in. Next she switched it off and unplugged it. Alex solved this problem as well. Just then, however, there was a power failure. Alex flipped the fan's switch a couple of times and nothing happened. He wiggled the plug and nothing happened. Frustrated, he uttered the first words of his life: "Jesus Christ, this doesn't work!"
The typical Williams facility with language, however, does not extend to most spatial abilities. Asked to draw a bicycle, a person with Down syndrome will come up with something that's crude but recognizable. Someone with Williams syndrome, on the other hand, will produce a drawing with the person underneath the bike, the chain stretched out below the wheels, and the pedals off to the lower left, connected to nothing. All the parts are there, but they're not in the correct relationship to each other.
Bellugi has shown as much with a test in which she briefly presents a card with a large letter D made up of many small Ys and asks children to reproduce what they saw. Normal children reproduce the figure accurately. Children with Down syndrome generally draw a large D, ignoring the little Ys. Children with Williams syndrome, however, will draw a collection of Ys, but it won't be arranged in the shape of a D. One group seems to see just the forest, while the other sees only the trees.
Because language is generally handled by the brain's left hemisphere and spatial abilities by the right hemisphere, one might be tempted to conclude that Williams syndrome is purely a right hemisphere disorder. But other peaks and valleys of ability make it clear that this is not the case. For example, Williams adults are at least as good as normal adults at recognizing faces, which is typically a function of the right hemisphere. The very existence of these peaks and valleys is ultimately what distinguishes Williams most clearly from Down syndrome and most other forms of mental retardation, in which all cognitive abilities are about equally depressed
The exact neural deficit in Williams syndrome remains a mystery. According to Bellugi and her colleagues, magnetic resonance imaging reveals that both Williams and Down syndrome brains are only 80 percent normal size. But so far the researchers have found no obvious differences in the cerebral cortex (the folded surface layer, which is resonsible for all higher functions) that explain the Williams islands of ability.
One brain structure that does seem to be affected differently in Williams and Down syndrome is the cerebellum, which is located at the back of the skull and is responsible for the coordinated control of movement, among other things. Somewhat surprisingly, certain regions of the Williams cerebellums are significantly larger than corresponding areas in Down brains. In fact, those areas are even somewhat larger that those in normal brains. No one really knows yet what this means.
Aside from their cognitive problems, people affected by Williams can have a host of physical problems. As infants they often suffer from feeding disorders and a generalized failure to thrive. It's common to hear a mother of a Williams child say, "He cried constantly for the first three years of his life."
A more serious medical problem is the narrowing of the aorta. This condition, known as supravalvular aortic stenosis, often requires surgery to replace portions of the aorta with Dacron patches. Williams patients often have amazingly high blood pressure -- 270/120 isn't unheard of, and 160/110 is the norm, even in children. They also have chronic genitourinary and gastrointestinal problems.
These days, the search for a common underlying cause for all these symptoms is concentrating on genetics. Most researchers believe that Williams Syndrome is an "autosomal dominant" genetic trait, meaning that the defect is not on the sex-related X or Y chromosomes, and that a child need inherit only one copy of the faulty gene or genes for the trait to show up. In most cases the condition seems to arise from a spontaneous mutation in an individual sperm or egg -- except in the case of identical twins, it's extremely rare for parents to have more than one affected child.
Unfortunately, no blatant chromosomal abnormalities of the type known to cause Down syndrome have been found. And while some detailed genetic studies have revealed a handful of individuals with subtle defects in one chromosome or another, no consistent pattern has emerged.
[Author's note added in 1996: The previous paragraph is thankfully no longer true. Recent studies have identified a specific genetic defect in Williams sydrome. For more information, contact the Williams Syndrome Association at the address and phone number noted below.]
One early indication of Williams syndrome is an elevated level of calcium in an infant's blood, and many researchers believe the underlying cause of the disorder may involve a genetic defect in calcium metabolism. Many chemical reactions inside cells depend on calcium; cells in the brain regulate these reactions with exquisite sensitivity by actively binding 99.9 percent of their internal calcium ions and releasing them only at the appropriate time and place. Elevated levels of calcium in the blood, leading to elevated levels inside the brain cells, could swamp this delicate system. Blood calcium levels are regulated by a hormone called calcitonin, and some studies have demonstrated diminished calcitonin levels in children with Williams syndrome. That suggests that they may have a defect in the calcitonin gene.
Just as vexing as the question of the underlying biological defect is the question of how to educate these children. They tend to have trouble in the classroom, not only because of their specific cognitive deficits but because a hypersensitivity to sounds often renders them restless and distractable. As educational psychologist Eleanor Semel says, "Educators are confused because the Williams syndrome child tests like the retarded child, talks like a gifted child, behaves like a disturbed child, and functions like a learning-disabled child." Each of these terms has a specific meaning in the world of special education, yet none seems to fit the characteristic peaks and valleys in Williams syndrome. The result is that children with Williams syndrome are generally not well served by schools.
Yet a proper education is indispensable if a child with Williams is ever to make his or her own way in the world. The statistics are not encouraging. In a 1988 survey of 100 teenagers and adults with Williams syndrome (average age 23), not one was living alone and unsupervised. Eighty were living with their families, and the rest were living in group homes or under some other form of supervision.
Finding jobs is one of the chief problems. Most of the positions available to those with serious cognitive disabilities tend to involve menial physical labor -- working on an assembly line or in a fast-food restaurant, for example. But the lack of gross motor skills renders people with Williams syndrome particularly unsuited for those jobs.
Anne Louise McGarrah recently moved from her parents' house into a group home, and she works at a job that takes advantage of her linguistic abilities. "I work with children in a YMCA day-care center," she says, "playing with them, reading to them, and doing different jobs around the day-care center. I have always loved kids." Unfortunately, McGarrah's job is a volunteer position, like most such occupations. Volunteer jobs don't bring the jobholder any closer to self-sufficiency.
And that must be the ultimate goal. "I think that we as people with Williams syndrome have an absolute right to be independent," is how Jan Storvick put it at the convention this past August. It is the challenge of the researchers who study them, the physicians and psychologists who treat them, the educators who train them, and most of all the parents and friends who love them to enable people with Williams syndrome to make that right a reality.
For more information on Williams syndrome, contact the Willliams Syndrome Association:
Williams Syndrome Association
P.O. Box 297
Clawson, MI 48017-0297
© 1991 by Robert Finn. All rights reserved.