DOWN SYNDROME

What is the real significance of Mary Boss? She is 13 years old, a sixth grader at Greenwood Middle School in New and to all outward appearances a human being. You would have to look under a microscope to see that she has an extra chromosome in each of her cells, resulting in the cluster of symptoms including mental retardation, known as Down syndrome. Her speech is slurred in spots but understandable, her ambitions to be a mountain climber and a hairdresser-not that remarkable; yet she walks among us as a living example of the inadequacies of our intellectual categories. Ask a biologist to define a human being and he might begin with the statement that a human being is an animal with 46 chromosomes in his cells. And here is Mary Boss, who has 47. People like her are, literally, expanding our definition of who is human

It is hard to convey just how revolutionary is the sight of Mary Boss playing soccer, let alone Scrabble. Just a generation ago it was considered axiomatic that children with Down syndrome were severely retarded. The state of the art medical advice was to place the infant in a state home at birth, for the good of his siblings and his parents' marriage. Raised amid unspeakable neglect in institutions like New York's Willowbrook, they lived to an average age of about 20, and died, often without so much as learning to speak. Today it is just about out of the question to institutionalize a Down syndrome infant at birth, according to David Rothman, professor of social medicine at Columbia University. And researchers increasingly believe most Down syndrome children fall into the mild- to moderate range of retardation, with a few able to approach if not actually enter that realm whose name parents whisper with awe and trepidation and longing, normal.

Unimagined potential:

There was no great medical breakthrough at work; the revolution was led by parents who rebelled at surrendering their children to places that were near neighbors to dungeons. Its scientific pioneers, observes Lynn Nadel of the science advisory board of the National Down Syndrome Society, were frequently researchers who were studying something else entirely, such as language acquisition. Certain theories could be tested easily on Down syndrome patients, and almost as a by product researchers began to appreciate their ability to learn. Only in the last decade, says Nadel, with the maturing of the first generation raised at home by their parents, has it become clear that Down syndrome children have as yet unimagined and unrealized potential.

Because the field is so new, no one can say how far that potential might extend. This much has long been known about Down syndrome: that it is an inherited disorder characterized by a redundant third copy of the 21st chromosom, that it occurs approximately once in 800 to 1,000 births, around 5,000 cases a year in the United States; that it is characterized by a distinctive appearance and varying medical conditions that may include heart and immune defects, and that the brain is always small and some degree of mental impairment is always present. But in at least two areas there have been significant new findings from which parents can take hope.

The first of these is the critical importance of early infant stimulation. There is nothing mysterious about this technique it means talking to, playing with and exercising the infant-activities that are recommended for normal babies as well-but rigorously, for several hours a day. You had to keep winding that mobile, remembers Mary Boss's father, Bill. The mobile is not to teach the baby how to tell a duck from a rabbit; it is a way of literally accessing the physical brain, of forging at an early age the neural connections that are essential for higher thought. There is even a theory that stimulation minimizes selective neuronal debt the natural process in which unused cells in the brain die off in the early years of life. Normal newborns have a surplus of neurons and can afford to lose some. With smaller brains to begin with, Down syndrome infants need to exercise theirs as early as possible. I think most Down syndrome children will be only mildly retarded or learning disabled if we can do early intervention, says Dr. Krystyna Wisniewski of New York's Institute for Basic Research in Developmental Disabilities.

The other discovery is that whether or not you can make Down syndrome kids smarter, you can certainly make it appear that way by improving their language skills. Virtually all Down syndrome children have serious problems with receptive and expressive language. This is partly the result of hearing loss, owing to their propensity for ear infections and partly the result of poor coordination and articulation. But Laura Meyers, a linguist at UCLA, believes there is a deeper problem an inability to perform the rapid auditory processing needed to understand spoken English. They get left out of the dialogue, she says; their brains are not getting the information needed to understand language. In particular, she believes that Down syndrome children simply don't hear short, unstressed words, which include most of the articles and prepositions that hold the language together.

The solution, she believes, lies in the computer, augmented with a voice synthesizer. In one of her studies, toddlers are presented with special keyboards with pictures of toys and actions, they learn to swat the appropriate picture to communicate simple wants and ideas. In another study, school age Down syndrome children have regular keyboards and a more ambitious agenda: to learn syntax and grammar. They say things like Want go Donald Tom, Meyers says. So you have to say, Oh, you want to go to McDonald with Tom. On the screen, the words that slip by so quickly in conversation are captured and made visible; the measured and uninflected voice of the synthesizer renders them a audible. It is a gross heresy in education to proceed from written language to spoken, rather than the other way round. But try telling that to Ralph Bingener, a 17 year old with Down syndrome. Why do you like writing on computers? Meyers asks him; and he replies, My ideas are really fruitful on the computer.

GETTING STARTED

The growing acceptance of programs such as Meyers's has given rise to a new phenomenon, the Down syndrome computer jock. Matthew Costea, six, first started working on a keyboard at three, knew his alphabet at four and scores average on a test of reading recognition. He has been in a trainable class, where he learns simple life skills such as getting dressed and crossing the street, but Wisniewski is urging Matthew's parents to put him in a more demanding educable program. The choice of a program can be a difficult one for parents, torn between wanting their children to learn as much as possible and the need for them to practice buttoning, zipping and tooth brushing. Mary Boss was in regular classes through fourth grade, and then, reluctantly, moved to a learning disabled program; her reading and English have kept up, but she has fallen behind in math.

And for the future? Mary knows she is different, of course, but she doesn't see it as an impediment to happiness. I'll be a mother, of course, she says. When I get older, I'll marry my boyfriend, which is Gary, when we both get older, make that. We stick together, me and Gary, because we both have Down syndrome and stuff. Whether or not she will marry, it is considered unlikely that she-or any Down syndrome patient-will ever be completely independent. I'm not sure that's the goal, says Nadel. The ability to live in their own apartment and balance their checkbook is not the issue. Matthew's mother has what is considered a realistic goal for a Down syndrome child, to live in a supervised group home, help with the cooking and go to a vocational program during the day. Modest, except by comparison to what his fate would have been just a generation ago to sit on a chair in a musty day room and mutely stare at the wall until he died. That they used to institutionalize these guys just amazes me, his mother says. Thank God it didn't happen to him.