Scientists are now looking for the earliest signs of autism as desperate parents hunt for treatments that may improve their children's lives. Claudia Kalb reports.
It's a winter night in Northbrook, Illinois, and brothers David and Jason Craven are on the move. They're watching a Baby Beethoven video. They're bouncing on a mattress in their basement playroom. They're climbing up their dad's legs. David, 7, and Jason, 5, with their mops of brown hair, look physically healthy. But both boys are suffering from a devastating developmental disorder: autism. David speaks only about 10 words, still wears nappies at night and sucks on a pacifier. Jason drinks from a baby bottle. Neither one can vocalise his glee as he plays. Neither one can communicate pain or joy in words. Neither one can say "I love you".
Since their sons were diagnosed, both at the age of two, Barry and Dana Craven have tried a dizzying array of therapies: neurofeedback, music therapy, swimming with dolphins, social-skills therapy, gluten-free diets, vitamins, anti-anxiety pills and steroids. To reduce the boys' exposure to environmental chemicals, which the Cravens believe might aggravate their conditions, the couple replaced their carpeting with toxin-free wood floors and bought a special water-purifying system. They even installed a $US3500 in-home sauna, which they think will help remove metals like mercury and arsenic from the boys' bodies.
Warm and loving parents, the Cravens spent $US75,000 on treatments last year alone. "I'm willing to try just about anything if it makes sense," says Dana.
In the six decades since autism was identified, modern medicine has exploded: antibiotics cure infections, statins ward off heart disease, artificial joints combat osteoarthritis. And yet autism, a vexing brain disorder, remains largely a mystery. Researchers still don't know what causes it, nor do they know how best to treat a condition that prompts one child to stop speaking and another to memorise movie scripts. With a tenfold spike in numbers over the past 20 years – one in every 166 children is now diagnosed with an Autism Spectrum Disorder – researchers, advocacy groups and the government are racing to improve the lives of children and their families, many of them emotionally and financially drained. This year the National Institutes of Health will spend $US99m on autism research, up from $US22m in 1997.
Some of the most exciting new work involves efforts to spot clues of the disorder in infants as young as six months. In the complicated world of autism, where controversies reign and frustration festers, a two-word rallying cry is growing louder by the day: early diagnosis. This week the Centers for Disease Control and Prevention launches a $US2.5m autism-awareness campaign, Learn the Signs. Act Early. The goal: to educate health-care providers and parents about red flags, to intervene as quickly as possible – and to give kids with autism a shot at productive, satisfying and emotionally connected lives. "This is an urgent public-health concern," says the CDC's Catherine Rice.
Today, most children aren't even seen by specialists until they've passed their second birthdays, and many aren't diagnosed until at least the age of three. Kids with Asperger's, on the higher-functioning end of ASD, may be overlooked until well into elementary school. "If we had a way of screening for autism at birth and then could begin very early to retrain the brain, that would really be the ticket," says Dr. Thomas Insel, head of the National Institute of Mental Health. Scientists are now attempting to do just that. In a joint effort by the National Alliance for Autism Research and the National Institute of Child Health and Human Development, researchers at 14 sites, from Harvard to the University of Washington, are studying the baby siblings of children with autism, who have a genetic liability for the disorder. By measuring the infants' visual and verbal skills and their social interactions, scientists hope to identify early markers of autism before children turn one. "I haven't been this excited about research in a very long time," says consortium member Wendy Stone of Vanderbilt University. "Not only are we getting clues about the earliest features of autism, but we're helping these families along the way."
Canadian researchers Dr. Lonnie Zwaigenbaum and Susan Bryson have enrolled 200 siblings, half of whom have been observed to the age of two. Roughly 10% have been diagnosed with autism. Zwaigenbaum, of McMaster University in Ontario, says that signs of the disorder, though at first subtle, are often there from the very beginning. Preliminary data show that six-month-olds who are later diagnosed with autism generally have good eye contact, but they're often quieter and more passive than their peers. And they may lag behind in motor developments, like sitting up or reaching for objects.
The signs often become more obvious as children reach their first birthdays. By then, some show patterns of extreme reactivity, either getting very upset when a new toy or activity is presented or barely noticing at all. Others already exhibit repetitive behaviours characteristic of autism – rocking back and forth or becoming fixated on an object, like a piece of string dangling in front of their eyes. And they're less responsive to playful interactions with others. When a typically developing child plays peekaboo, her face lights up, she looks at the person she's playing with, she makes sounds, she reaches for the peekaboo blanket. Children with autism, by contrast, show little facial expression. They may not look at their playmate, and it can take enormous energy to elicit a reaction. "What's been striking," says Zwaigenbaum, "is the lack of response or the distress that these activities can elicit."
The Baby Sibs consortium is also looking for early physical markers of the disorder, starting with the size of children's heads. A landmark study published in 2003 found that kids with autism experienced unusually rapid head growth between the ages of six and 14 months. Consortium members want to see if their young siblings do, too. Scientists aren't sure what accounts for the increase, but one theory is that it has to do with an overgrowth of neuronal connections. Normally, the brain clears out biological debris as it forms new circuits. "Little twigs fall off to leave the really strong branches," says University of Michigan researcher Catherine Lord. In kids with autism, however, that pruning process may go awry.
In their hunt for neurological clues, scientists are unveiling the inner workings of the autistic mind. Using eye-tracking technology, Ami Klin, of the Yale Child Study Center, is uncovering fascinating differences in the early socialisation skills of children with autism. Klin has found that when affected toddlers view videos of caregivers or babies in a nursery, they focus more on people's mouths – or on objects behind them – than on their eyes. Klin's toddler study echoes findings in adults and adolescents with autism when they watched clips of Who's Afraid of Virginia Woolf? "Richard Burton and Elizabeth Taylor were engaged in a passionate kiss, and they're focusing on the light switch," says Klin. "Our goal is to identify these vulnerabilities as early as possible."
Might it be that the autistic brain's operating platform is different, as if it's a Mac in a world of PCs? Functional MRI scans show that the brain's "fusiform face area", the control tower for face recognition, is underactive in people with autism. The more severe the disorder, the more disabled the fusiform. But is it actually dysfunctional? Or is it just not interested in people? In an intriguing early study, Yale's Robert Schultz took brain scans of a child with autism who had trouble distinguishing human faces but loved the cartoon character Digimon. "Lo and behold," says Schultz, "his fusiform showed strong activity." Schultz and James Tanaka at the University of Victoria in Canada are hoping computer games can help kids with autism learn how to engage with human faces and identify emotions. The children follow directions to shoot at smiley faces or click on the guy who looks sad. In Emotion Maker, they choose features – angry eyes, a scowling mouth – to create their own faces. And in Who's Looking at Me? they scan an array of faces to sensitise them to eye contact. So far, says Schultz, the kids appear to be improving. But will it help change the course of their lives? "That's the million-dollar question," he says.
An intellectual thief, autism infiltrates children's brains, stalling or stealing cognitive and social development. In classic autism, babies fail to coo or babble by their first birthdays. Or words that do develop ("dada", "up", "toy") inexplicably disappear. One-year-olds don't respond to their names. A child once bursting with potential finds spinning tops more captivating than her mother's smile. Kids with Asperger's may not be as closed off, but they suffer severe social deficits. Many are verbal fanatics, immersing themselves in long-winded monologues about obscure topics, like fat fryers or snakes. Klin recalls a child who bowed and spoke in Shakespearean English, "almost as if I had plucked him from 14th-century Verona". Such oddities can make these children social pariahs. Baffled by human interactions and frustrated by their inability to make friends, some kids spiral into debilitating fits of anxiety and depression. Many children on the autism spectrum will never live independent lives. "We're talking about children who need lifelong care," says NIMH's Insel. "This is an astonishingly devastating disease."
And its current treatment is all over the map. Every day, it seems, there's a new "cure". With no known cause and no clear guidance, parents must navigate a maze of costly therapies, most of which have little hard-core science to prove their effectiveness. Many children now take medications, ranging from anticonvulsants (about one third suffer from seizures) to stimulants like Ritalin to calm hyperactivity. Low doses of antidepressants such as Prozac may help reduce the severity of repetitive behaviours. And risperidone, an anti-psychotic drug, can quell aggression and tantrums, says Dr. Christopher McDougle, of the Indiana University School of Medicine. The drug, whose side effects include weight gain and sedation, is now before the FDA and could become the first medication approved specifically for autism.
Drugs, however, won't help a child learn to speak. One of the few treatments that just about everyone agrees is critical is behavioural intervention, which uses word repetition, game-playing and specialised exercises to develop a child's language and social skills. At the Lovaas Institute in Los Angeles, senior instructor Sona Gulyan engages Adam Ellis, who turns four next month, in language drills known as discrete trials. "Say 'hi'," says Gulyan. Adam, a chubby-cheeked little boy in jeans and a white T shirt, responds with a "k" sound. "No, 'hi'," says Gulyan. After several failed attempts, Gulyan switches the focus. "Do this," she says, pointing to her nose. Adam imitates the gesture and is congratulated. And then it's back to the original task: "Say 'hi'." Finally, success – and an orange balloon as a reward. In 1987, founder Ivar Lovaas reported that children who received an average of 40 hours a week of his intensive one-on-one therapy called Applied Behaviour Analysis increased their IQs by 30 points, compared with a control group. Other studies, however, have been mixed, and critics believe the program is too militaristic. But for Adam's mother, Megan, it's progress that matters. "He has mastered so many skills," she says. "It's just amazing."
Things are more relaxed at Cleveland's Achievement Centers for Children, where Lisa and Tim Brogan play with Alex, their son. Alex is learning to communicate through an intervention called Floortime, which focuses on a child's individual strengths and his relationships with others. Kids learn to engage with their parents through "circles of communication". If Alex wants to line up toy cars in a row, his dad will join him, then nudge one out of place. The move prompts Alex to interact with his father – a circle of communication – rather than isolate himself with the toys. "We have come such a very long way," says Lisa.
Children with autism have as many styles and personalities as any group of toddlers. A behavioural intervention that suits one child (or his parent) won't necessarily work for another. Many treatment centers now mix techniques from different approaches, including one of the newest on the block: Relationship Development Intervention, or RDI. Here, parents learn how to use everyday events as teachable moments. A trip to the grocery store, for example, becomes an opportunity for kids to learn to adapt to sensory overload – the chatter of shoppers, 100 different kinds of cereal. In the past, Pam Carroll's son, Morgan, 9, was fixated on instant oatmeal with blueberries, and he melted down if it wasn't available. Now he roams the aisles in Gainesville, Florida, and helps his mum shop. Linda Andron-Ostrow, a clinical social worker in Los Angeles, likes the way RDI empowers parents and allows for creative thinking. "Life isn't structured," she says.
With autism's medley of symptoms – which can include a heightened sensitivity to sound and picky eating habits – many families search for alternative treatments. Kacy Dolce and her husband, Christopher, recently took their son, Hank, 4, to see Mary Ann Block, an osteopath in Hurst, Texas, for a $US2500 assessment. Block prescribes vitamins and minerals, diets free of wheat and dairy, and a controversial treatment, chelation, which strips the body of metals like mercury. Block believes these toxins could come from vaccines and are at the core of autism. Mainstream doctors, pointing to scientific studies showing no connection, worry that chelation puts children at serious risk. Despite the possibility of dangerous side effects, like liver and kidney problems, the Dolces say they'd consider it. "We don't know enough yet to say no," says Kacy. "I'll do anything to help our child."
What parents really need is a road map. Six U.S. medical centers have joined forces to launch the Autism Treatment Network, which will evaluate therapies, pool data and, ultimately, create guidelines. "We can't have parents chasing down the latest treatment," says Peter Bell of Cure Autism Now, a research and advocacy group allied with the effort. "We need to understand what works." At the forefront of ATN is Massachusetts General's Ladders program, where Dr. Margaret Bauman is using a multidisciplinary approach. In addition to offering standard regimens like physical therapy and behavioural intervention, Bauman assesses overall health. When she saw a teenager crying and twisting her body, symptoms other doctors attributed to autism, Bauman sent her to a gastroenterologist, who found ulcers in her oesophagus. The writhing was caused by pain. A boy's head-banging went away after he was treated for colitis. "We really have to start thinking out of the box," says Bauman.
And thinking early. Today many kids aren't getting treatment until well after their third birthdays. Diagnosing an infant with autism at six months or a year – maybe even one day in the delivery room – could mean the difference between baby steps and giant leaps. At the Kennedy Krieger Institute in Baltimore, a handful of two-year-olds toddle at the next frontier in autism treatment. The children are part of an NIH-funded study run by Rebecca Landa to see if early intervention, before the age of three, can improve the trajectory of cognitive and social development. As Landa looks on, David Townsend fusses and stamps his feet. Then, he notices his twin sister, Isabel, turning the pages of Ten Little Ladybugs. David looks at Isabel, watches her hands, then flips a page himself, accomplishing what autism experts call joint engagement "That was beautiful," says Landa. A fleeting moment, a developmental milestone – and, if all goes well, a new world of possibilities for a sweet little boy with dimples.
A personal story
With Karen Springen, Ellise Pierce, Joan Raymond and Jenny Hontz
© 2005 Newsweek, Inc.
March 10, 2005