Pacific Northwest Magazine / Cover Story
Unraveling The Deep, Daily Mysteries Of Autism: While parents sort the pieces, UW researchers hunt for connections
My son Derek, turns 10 tomorrow. I wonder if he'll notice.
Chances are he will meet my "Happy birthday!" with a startled gaze and whisper back, "day." He can say only a few words, but when he senses expectation, he'll try to repeat the last syllable of the last thing he hears, grasping for a way to understand.
We'll walk a strange fine line tomorrow. My wife, Nina, his 7-year-old sister, Nicole, and I will try to show him it's a special day and give him a taste of what other kids get, but it has to be done just right. Too much attention is like cranking a stereo's volume on full and could cause him to either shut down or lose control.
Presents are the trickiest part. He has no interest in them and hasn't since he was diagnosed with autism seven years ago. We stopped wrapping because he so hates opening. He would tear a tiny strip, about the length of an index finger. If I egged him on, he'd do an inch more. If I pressed further, his arms and hands would go limp and his eyes would dim and lock onto a corner of the ceiling.
So we won't push it. It's his day, not ours.
If I let him, though, Derek will probably spend this milestone birthday like every other day, inside his own comfort zone. He'll work through his dog-eared flash cards, grabbing each by a corner and snapping it over in the air with the panache of a magician showing off a buried ace. He'll curl pages of a social-studies picture book he carries everywhere to scan it from some personal angle. If I forget to lock the doors to my deep closet, he'll toss out all my shoes, replace them with blankets and pillows and nest in a dark corner. If I don't keep the upstairs windows latched, he'll climb out and prance on our roof, which is so steep it makes my knees wobble. Derek is spooked by cats but oblivious to heights.
When we go on our daily walk, he'll grab my hand or put his arm around my waist, but it will be a silent trip. The few words he has come out in labored gasps, so he tries to speak only when he really needs or wants. Besides, he will be be fixated on the wheels of passing cars and shuffling feet of other pedestrians. I'll take him to the swimming pool, where he will squeal, laugh and seem like every other kid who surrounds him. Yet he will never acknowledge them — only their splashes.
After all these years, autism is still hard for me to understand, let alone explain. It is a pervasive and life-long developmental disorder that encompasses a spectrum of behaviors and levels of severity. Most people with autism struggle to communicate and to break free of rigid, often isolating interests, rituals and patterns. The hallmark of autism, though, is fundamental disconnection, the inability or struggle to understand social interactions that most of us learn instinctively.
Autism is such a powerful, defining word, but I've met many children with the disorder, and they are all unique. Some are "high-functioning" with normal or high IQs and the ability to blend in fairly well. Some bite themselves and bang their heads in frustration. Some fight seizures. Most have some mental retardation or related problems.
Derek is somewhere in the middle, but it is hard to be sure what he knows. He takes in a lot more than he lets on through his dim eyes and distant gaze. He rarely looks into eyes or gives you a clue he understands.
He's a happy, nice kid without friends or, it seems, an understanding of friendship. He has the angelic poker face that children with autism usually have. The sneer of jealousy or the leer of greed never cross Derek's face, but you'll never detect curiosity there, either.
I'm sure there will be moments tomorrow that I will think back eight years to his second birthday, when he ate birthday cake and tore open presents. He showed toys, shared laughs, spoke, smacked a ball off a batting tee and pointed to share a thought, not just to request as he does today. Perhaps we just missed the warning signs, because things changed soon after.
He became unruly and got kicked out of day care for repeated escapes. He seemed deaf at times. His speech became garbled and nonsensical. Just before all the words vanished, he began parroting snippets of movie lines like a human tape-recorder and announcing the presence of every fire hydrant we would pass.
He was diagnosed with speech apraxia, which hinders the processing of language. The once-a-week speech therapy wasn't helping, so Nina took him to a social-service organization to try to bolster the attention. It took an in-take counselor only a few minutes to see what we couldn't and the series of professionals we had gone to either missed or didn't want to venture. She said she wasn't allowed to give the diagnosis but we should find a neurologist — fast.
"We can't help him," she said. "He's one of those mystery children."
AUTISM IS a profound mystery. Health officials estimate 1 in 500 people are within the autistic spectrum and 1 in 1,000 meet the more classical definition. There is no known cause. The disorder is genetically based, but appears to have an environmental component or trigger. It is four times more common in boys than girls. There is no cure yet, but various interventions can help.
There will be times tomorrow when I will ask myself the daily questions: How did this happen? What does he see, hear, think, feel? How can I help?
There are no clear answers, but research is exploding across the country along with the number of diagnosed cases. Over the span of Derek's life, childhood autism research at the University of Washington has grown from a few pioneering projects to a robust, wide-ranging program. More than 30 medical doctors and Ph.D.-level researchers from the fields of genetics, statistics, radiology, developmental and clinical psychology, pediatrics, psychiatry and speech and language are applying their expertise.
Psychologist Geraldine Dawson, who has spent more than two decades studying and treating the disorder, is trying to interlock the pieces by fusing cutting-edge brain-imaging techniques with detailed diagnostic research. Much of the work has been paid for by the National Institute of Child Health and Human Development, and Dawson is leading the UW's effort to become one of five nationwide centers for autism research and treatment under the Children's Health Act, passed by Congress last fall.
One of Dawson's ongoing projects focuses on charting the course of brain development in young children with autism. Three years ago, 75 of them between ages 3 and 4 came to the center and participated in a series of psychological and developmental tests. Brain structure, mass and circuitry were measured for those who would comply with the imaging exams. Now, most are returning to undergo a new round so researchers can measure changes. They are being compared to same-age children who either are developing normally or are developmentally delayed but do not have autism.
Dawson is also leading a study focused on finding genetic answers by examining families with more than one child diagnosed with autism. So far, investigators have collected blood along with detailed medical and psychological information from 130 families across the nation. The minimum goal is 200 families.
Most scientists and medical researchers appear to believe no one gene causes autism. It may involve an unlucky combination — perhaps five to 10 genes — that predisposes people to the disorder. The complex task of identifying those genes is complicated further by the wide range of degrees and manifestations within the disorder spectrum.
Dawson's ordered office is at the university's Center on Human Development and Disability (CHDD), where work is done on disorders and diseases from Down Syndrome to congenital hypothyroidism. On the end table near where I sat when I first met her was an old Newsweek magazine cover featuring the face of a young autistic boy with the same bewildered look Derek often wears.
As both a clinician and scientist, Dawson exudes a combination of empathy and precision. She began her work in this very building as a graduate student in 1978, when far less was known about autism. While working toward her doctorate, she took cases. One involved a 4-year-old boy. He hadn't been officially diagnosed because back then the diagnosis rarely came until 6, school age. He was bright and could speak, but would not make eye contact or show basic interest in others.
"It captured my mind," Dawson told me. "It seemed a very fundamental and intellectual problem, but from a heart point of view, I was really moved by what this family and their child were facing."
She decided to devote her career to studying autism, a daunting task, a mentor warned. Autism research requires understanding all aspects of the mind, from emotion, to language, to brain mechanisms, to attention span and motor-planning.
Dawson did her dissertation on using EEGs to try to pinpoint affected regions of the brain. After spending time at UCLA and the University of North Carolina, she returned to Seattle to join the UW psychology department in 1985. She quickly established an EEG and neuropsychology lab in the development center.
By the early '90s, she began the first studies that used EEG equipment to test brain function in young children with autism. At the same time, she began collaborating on imitation studies with psychology professor Andrew Meltzoff, an expert on infant development and now co-director of the recently established Center for Mind, Brain and Learning. She soon began working with research associate Julie Osterling, now clinical director of the UW Autism Center, to search for early signs of the disorder by viewing home videotapes of first-birthday parties.
WHEN I MET Noah Kelley, a small 6-year-old with big eyes, he was agitated about the portable fan whirring at the reception desk of the CHDD. His mother, Stacie, politely asked the receptionist to take it down until Noah's appointment began. Noah has a fan fixation. He knows all the brands and styles.He even likes the boxes they come in. I know other children with autism who fixate on baby-wipes containers, sea-monster paraphernalia or, in my son's case, flash cards.
Noah is part of the group of kids, now either 6 or 7 years old, returning to the university three years after going through the original wave of neurological and psychological testing.
As with most other children with autism, Noah does not seem to look at people; he glances at them. But unlike my son, who is not in any of the studies, Noah speaks and listens well, is an excellent reader and pays attention.
Standing behind a one-way mirror, I was excited to see Noah maneuver through a battery of tests designed to measure aspects like imagination and social ability. Maybe Noah could give me insight into how my son thinks.
He sat quietly at a table and pointed to pictures, labeled objects and made patterns out of blocks. He did well, but seemed bored. He lit up when research assistant Susan Ashman administered the "object discrimination reversal task." While an assistant put up a cardboard blind in front of Noah, Ashman put a Cheerio inside a green turtle container, which she then held out to one side of the table. On the other side, she held a white bunny, which was empty. If he picked the right one, he got the Cheerio. Initially, it was always in the turtle. Researchers wanted to see how fast he picked up on the pattern. Eventually, she moved the prize to the bunny to measure the flexibility of his thinking. He giggled throughout.
Later, the table was shoved against a wall. Toys — blocks, cars, a dump truck, jack-in-box, a phone and others — were scattered about. Researchers wanted to see what he gravitated to, if he played appropriately, whether he showed imagination or interest in playing with anyone else.
Noah made a ringing sound and answered a toy phone. He began an animated discussion. It looked like any kid pretending, but not quite. He was adhering to a strict script in his head, reciting lines from a favorite kid movie over and over. His mother calls this video talk. Sometimes, she told me, he seems to do it for amusement, but sometimes he uses it to soothe himself. This rote spiel is fairly common. Derek did it near the end of his talking days.
When Ashman offered Noah human figurines, he grabbed two, went to a far corner, held them up to one another and began an animated exchange. Once again, he recited movie lines. When Ashman held a third figure and tried to enter the exchange, Noah took it from her and kept at his own game.
Later, as Noah played with other toys, Ashman tried to make conversation. She asked if he liked sports and then said, "I like basketball," an open statement designed to see if he would show interest in her. He said nothing.
He has developed well, thanks to his involved parents and to intensive one-on-one instruction that began at age 3½. But when the tester cleared the table and asked him to pretend it was a sink, he was stumped. Show me how you wash your hands, she said. He did nothing; he either couldn't or wouldn't visualize what wasn't there.
Noah returned two more times in the following weeks for more tests designed to measure his development and provide data on tasks associated with specific parts of the brain.
After all of these sessions, Noah was rewarded with a trip to the "silly hat room."
THE SILLY HAT is actually a lightweight Geodesic Sensor Net, which drapes over the child's head and attaches 64 sponge-tipped electrodes to the scalp. Each electrode measures the speed and general location of electrical impulses as the brain reacts to stimuli. To make this test work, a child must sit at a table in a dark room and watch a series of images flash on and off the screen. Some are objects, some are faces. As with the clinical tests, researchers focus on tasks associated with specific parts of the brain.
In a recent project in Dawson's lab, children with autism showed more brain activity reacting to a favorite toy than a mother's face. In another test, 3- and 4-year-old children with autism showed no difference when viewing a face exhibiting fear and one showing no expression. Normally developing children as young as six months old show a significant difference. Reading fear and faces seems so fundamental to human evolution that some scientists believe we come hard-wired with it.
Noah is an easy-going kid who complied with the test three years ago, but researchers know how unpredictable a child like him can be so they had spent about 15 minutes getting him reacquainted with the head net in earlier visits. Despite distracting him with toys and Cheerios, researchers could not persuade him to keep it on this time. "I don't want to!" he repeated emphatically. "I want to go now!" After several minutes, researchers called off the test. When a child makes that many demands, researchers must comply. Stacie apologized, but researchers understood they were asking a lot. So did I. Derek won't even wear a baseball cap.
The university may be the only research center in the country doing these sorts of brain examinations on young children with autism, but Dawson feels it's critical to get a handle on early development, chart progression and learn what treatments may help.
Noah returned yet again a few weeks later. This time, he was sedated so he could undergo a specialized version of magnetic resonance imaging (MRI) developed and executed at the UW by Dr. Stephen Dager. It is designed to essentially provide a map of brain structure and chemistry. Dager, a professor of psychiatry, behavioral sciences, radiology and bioengineering, uses the technology to uncover abnormalities not detected in standard MRIs. Dager tested Noah three years ago and, like other researchers, is looking for developmental changes.
Generally, children with autism appear to have bigger brains than normal, Dager said, and regions of those brains, such as the emotion-regulating amygdala, appear unusually large even in that context. Despite the larger brains, the cell activity seems lower than average. He is trying to correlate the abnormalities in chemistry and structure with psychology tests Dawson's team conducts. The findings are exciting, Dager says, but the team is still trying to figure out what they mean.
University researchers also are trying to create a three-dimensional brain image by merging the geodesic-net tests with similar exercises using MRI technology. Combining the two may give a more complete picture. The geodesic test is best at measuring speed or the electricity of brain processing. The MRI measures where and at what intensity.
Last month, researchers made their first attempt by having a graduate assistant view faces and furniture while wearing the geodesic net and then viewing them while resting in an MRI tunnel. Computer software enabled biophysicist Todd Richards to call up an image of what looked like the subject's head wrapped in a tight-fitting brown paper bag. Then Richards lopped off the top half of the scalp image, rotated the head and looked straight down into the brain to see what parts had been activated.
NOAH CAN TEACH UW researchers and bolster the critical database of information, which is shared with other autism centers across the country. He has a younger brother diagnosed with autism, so the family is contributing to both the multi-year tracking study and the genetics investigation.
"I feel I have a responsibility to other parents and the university to help find answers," Stacie said. "If it traumatized my children, I wouldn't do it.''
If parents have one autistic child, their chance of having another is about 1 in 20, far higher than usual. Studies of identical twins show that if one twin has autism then the other has a 90 percent chance of being within the spectrum, too. The rate is far less with nonidentical twins, who share only half their genes with the sibling.
The high matching rate among identical twins indicates a strong genetics role, but because it's less than 100 percent, scientists believe there may be an environmental factor, too. For instance, there is intense debate — and an Oregon lawsuit brought by four families — over the alleged role of mercury-based preservatives in some vaccinations.
The UW genetics study reflects recognition that autism isn't a one-size-fits-all disorder. Dawson's investigators take blood from family members and look for subtle signs of undiagnosed autistic tendencies. Perhaps a father is socially awkward. Maybe the mother has learning difficulties or a hard time with faces. The information is plugged into a database.
By focusing on specific autistic traits rather than the full-blown diagnosis, Gerard Schellenberg, a geneticist at the Veterans Administration Medical Center and UW research professor of medicine, and Ellen Wijsman, a statistician and research associate professor of medicine, can refine their search. If it takes a combination of five genes to cause or contribute to autism, perhaps the father has three of them, the mother two. Maybe a brother or sister has four. None of them has autism, but their subtle deficiencies could be used to connect researchers to particular autism-related genes.
"If we tackled this as either you have autism or you don't, I don't think we could do it," said Wijsman, one of the few people in the world who does statistical medical programming of this complexity. She has used this method to help Schellenberg find genes responsible for early-onset Alzheimer's disease.
Finding the cause, of course, opens doors for treatment. Many of Dawson's projects are aimed at earlier screening, better diagnosis, more efficient medication, and refined intervention. Part of the challenge is distinguishing subtypes.
Why are some able to talk, others not? Why do some have above-normal abilities in some areas? Why do approximately 25 percent of affected children appear to begin developing normally, like Derek, only to regress? Do these differences indicate important variations of the disorder that require different treatments?
Every parent of a child like my son runs across stories of miracle cures and magic pills. A well-meaning friend suggested a healer. Different methods — medication, sensory integration, audio therapy, a rigid diet, to name just a few — seem to help some, but not others. In Noah's case, it was intensive step-by-step behavioral teaching that helped. It's helped my son also, but less successfully. Many educators believe that starting an intensive program as early as possible is critical.
Last summer, Richard and Susan Fade, a local couple who have a family member diagnosed with autism, donated $5 million to establish the university's Autism Center. Bill and Melinda Gates, through their foundation, matched that amount. The center's mission is early diagnosis and intervention and training professionals, including school-district teachers. Dawson also oversees the Autism Spectrum Disorders Clinic.
Autism can be hard to spot or distinguish the whole from its parts, like speech problems or developmental delays. Dawson says some of the signs to look for by 18 months include failure to pretend play, point to show or follow the pointing of others. Other red flags are loss of speech or delayed language and failing to respond when her or his name is called.
In their video study of first-birthday parties, Osterling and Dawson were able to pick out 10 of 11 infants later diagnosed with autism.
My wife and I have never owned a video camera, but we have many still photographs of Derek's first two birthdays. The pictures show a kid having a great time. He looks like any other kid, but perhaps we would have spotted something if we had been attuned. He was our first child, though, and all we knew about autism at the time came from the Dustin Hoffman movie, "Rain Man." And as great as Hoffman's performance was, the character didn't seem real.
SO MANY UNPROVEN theories are floating that the more I learn, the less I'm sure of. Still, it is easier to think about smart people poking at the black box of autism from all angles than it is to reminisce about how Derek used to be or imagine what life awaits him.
In the meantime, he goes through drills five or six days a week, working on learning sounds, images, how to pay attention and imitate — things most kids pick up instinctively. He does not like this. In fact, his reward for a certain number of right answers is getting to stop — at least for a few minutes. We've had a series of therapists over the years, usually smart young people with backgrounds in language development, psychology or special education who are willing to come to our home and work with a challenging student while getting paid less than they are worth.
Some days, success is getting him to sit down. Some skills he had five years ago he doesn't show today, and things he has mastered at the table he can't apply on the fly. Many days, my wife and I wonder if there is any use. Then, he surprises us with a sweet a smile, a new word or a sign of some new ability. While there are still many days when he is a jittery dervish of moans and gyrations, they are far less frequent.
In fact, he has come a long way, inches at a time. While he doesn't look at faces much, he has become adept at reading eyes and subtle expressions. He is clever enough to understand how his smile and giggle disarm me when I'm forcing him to do a task. He is spitting out a few more words, but most importantly, he's trying harder.
I hear some children with autism don't like touch, but Derek craves it. He'll often seem to ignore me when I walk into the room, but then walk up and plop his 4-foot-9, 80-pound frame onto my lap and rest his head on my shoulder. When I put him in a headlock, he practically purrs. Part of this is to soothe some sensory deficiency that is part of his form of the disorder, but the fact that he comes to me and my wife for help fills a need with us, too.
And he continues to teach us. Just last month, I showed him an old photo album. He rhythmically flipped the pages, more interested in the movement than the images. However, when he came upon a page containing three photos of himself at an Indiana park he studied them carefully. When I turned the page, he turned it right back. He hadn't been there since he was 2.
Two weeks later, on one of our walks, he tugged me down a street we hadn't walked in many years. Suddenly, he tried to drag me up the stairs of a house. He had been there many times when he was small; in fact, it was where he had his second birthday party. Yet he hadn't been there for seven years, since his diagnosis.
As foolish as it sounds, I'd never thought about what memories he might have.
Just a few weeks ago, we took Derek to a five-night Easter Seals camp on Key Peninsula so he could run around and we could rest. Despite biting a counselor on the bicep on the second day when she barred him from using the swimming pool because it wasn't his turn, Derek rallied to win an award for the "most affectionate camper."
It was the longest he had been away from home, and we were the first family there on pick-up day. Derek, looking worn out, silently walked to the car. I handed him an opened bag of his favorite chips while his sister strapped him in. As I started the car, my wife told me to turn around and look in the back seat.
Tears pooled in Derek's eyes as he stared straight ahead. Had he been wondering if we were coming back? Was he showing the emotional weight of almost a week outside the comfort zone? Was he simply relieved to be back with us and heading home?
Temple Grandin, a brilliant autistic woman and animal scientist who has designed many of the commercial livestock-handling structures in use across the country, has written two books about her life and autism. She thinks in pictures, not words. She has learned cues, such as when to laugh at a joke even though she does not "get it," and she intellectually knows a sunset is beautiful without intuitively understanding what beautiful is.
The world she must navigate can seem so foreign that she feels like she's an "anthropologist on Mars." I imagine that is how Derek feels.
When he was an infant, we recorded in a book his first laugh, his first reach for an object, his first steps. When the label defined him we became an autistic family. Today, I see a sweet boy who got a bad break. He's fortunate, too, though. His mother works constantly to help him and his sister, despite being as opposite as possible in every way, embraces him.
It no longer is just about understanding Derek. It is about helping him understand us, too. So, tomorrow, on his birthday, we'll see if we can meet halfway.
Richard Seven is a staff writer for Pacific Northwest magazine.