Dr. Pauline Filipek sizes up her tiny patient in her toy-strewn clinic in Orange, Calif. As the 22-month-old boy enters the room, he doesn't look at Filipek or anyone else. He plows into a pile of toys on the floor, sometimes walking or crawling over them, but doesn't speak.
He could easily pass as a good-natured child who needs little attention. But Filipek, a neurologist, sees something else. Most toddlers will carry a toy in only one hand — this child clutched a toy in each fist when entering the room. And children this age typically will scope out a room full of strangers warily, sticking close to mom or dad for reassurance.
At the end of a 90-minute exam, she gently tells the child's mother and father — first-time parents in their 30s — their son has autism.
Filipek is among a growing number of child-development experts who say that autism often can be identified much younger than is typically done today, and that early treatment can alter, sometimes dramatically, the course of the brain disease that affects about one in 500 U.S. children.
Geraldine Dawson, director of the Autism Center at the University of Washington's Center on Human Development and Disability, says doctors now can reliably diagnose autism by age 2 and researchers are developing screening tools to identify kids as young as 18 months. "The long-range goal," she says, "is to be able to detect autism at birth or in very early infancy."
Troubling symptoms
What to look for The criteria used to diagnose autism are designed for 3-year-olds. Recent research shows certain behaviors in younger children may indicate a higher risk for developing the disorder. No single factor indicates a child may have autism; the presence of several symptoms could be cause for concern.
Possible symptoms at 6 months:
• Not making eye contact with parents during interaction
• Not cooing or babbling
• Not smiling when parents smile
• Not participating in vocal turn-taking (baby makes a sound, adult makes a sound, and so forth)
• Not responding to peekaboo game
At 14 months:
• No attempts to speak
• Not pointing, waving or grasping
• No response when name is called
• Indifferent to others
• Repetitive body motions such as rocking or hand flapping
• Fixation on a single object
• Oversensitivity to textures, smells, sounds
• Strong resistance to change in routine
• Any loss of language
At 24 months:
• Does not initiate two-word phrases (that is, doesn't just echo words)
• Any loss of words or developmental skill
Source: Rebecca Landa, Center for Autism and Related Disorders at the Kennedy Krieger Institute, Baltimore
Early recognition is one of the most hopeful developments in the sobering world of autism, a neurological disorder in which people have difficulty communicating and interacting socially with others.
Autistic children often speak little, ignore others and display repetitive behavior, such as spinning in circles or focusing on one object for hours. They may excel at something in detail, such as spelling or playing a musical instrument, but become overwhelmed when trying to navigate the world at large.
The disorder is also known as "autism spectrum disorder," reflecting the wide range in severity of cases and the various subtypes of autism, such as Asperger's disorder and pervasive developmental disorder.
Many doctors see the effort to diagnose autism earlier as a significant development that could yield clues to what causes autism and how best to treat it.
But the trend in early diagnosis has also created a backlog of parents who are demanding diagnostic evaluations earlier — often for babies. Doctors and insurers frequently deny these services for several reasons: Evaluations are costly, there is a lack of trained therapists and some health-care providers say autism can't reliably be identified before age 3 or 4.
Continuing study "Research on early diagnosis is coming off the press as we speak," says Rebecca Landa, director of the Center for Autism and Related Disorders at the Kennedy Krieger Institute in Baltimore. "People are just starting to list what the red flags are in infants and toddlers."
Those lists are beginning to make their way into the hands of parents and pediatricians. This month, the national Centers for Disease Control and Prevention will launch a campaign to promote earlier diagnosis of autism.
At about 8 months, Dawson says, babies should babble and pay attention when their names are called. By 12 to 14 months, they should point, wave, gesture, imitate others and play peekaboo.
"This is the age when the child points at something and looks at the mother to see if she sees it," she says. "They show things to their parents. Even before kids are using formal words, they are using their bodies for pointing and showing. This is important because with a child with autism both the verbal and nonverbal systems are affected."
In a 1994 study, Dawson and colleagues examined videotapes of the birthday parties of year-old children later diagnosed as autistic and compared them with videos of normal children. Researchers watched for four behaviors: looking at others, gesturing and pointing, showing things, and responding when their names were called. They weren't told which children were later diagnosed as autistic. Nevertheless, they were able to correctly identify 10 out of 11 normal children and 10 out of 11 autistic children.
Other potential signs of the disorder can emerge between the first and second birthdays, experts say. While most toddlers will be speaking at least a few words by 14 to 18 months, autistic children often do not. Delayed language development may not by itself indicate that a child is autistic, but a delay combined with other autism symptoms is reason for concern, doctors say.
Also, an estimated 20 percent of children with autism appear to develop normal speech, but then begin to regress, no longer speaking words they once spoke, growing silent, shunning others, becoming isolated.
A big "maybe" Doctors can only identify symptoms that may indicate autism in very young children, says Filipek, noting that the earlier the diagnosis is made, the greater the chance of misdiagnosing a child. Still many experts say they feel it's better to recognize any developmental delay and address it as early as possible.
While doctors look for specific developmental signposts, many parents are relying on their own awareness.
Cindy Bluth of San Clemente, Calif., had read about autism in women's magazines and knew enough about the disorder to begin worrying when her daughter, Juliette, was 7 months old. Cindy had three older children when she married her husband, Jon, in 2000.
"I know a little bit about babies," says Bluth. "I realized that Juliette never really looked at Jon and that my face should be her favorite 'toy,' but she did not want to look at me." Juliette was also not babbling.
When her daughter was 10 months old, Bluth called the pediatrician — telling herself she was being silly. But the pediatrician agreed that Juliette's silence and avoidance of eye contact was unusual and said he wanted to see the baby again in two months. By then, Juliette was walking on her toes (a characteristic of autism) and spent hours engrossed in the same Disney videotape.
For Bluth, the clincher came one day when she sat in the park and watched as Juliette sifted through gravel for 40 minutes, engrossed.
Juliette was diagnosed with autism shortly after her first birthday.
Vigilant parents Filipek says most early diagnoses result from parents' concerns, not pediatricians' referrals. In one 1997 study of 1,300 families, children were diagnosed with autism, on average, at age 6. However, many of the parents had sensed something was wrong when their children were about 18 months old, and they had sought medical assistance, on average, by age 2.
"Parents say, 'I have known something is wrong since they were 12 months old, and I've been from physician to physician to physician and they always say not to worry,' " Filipek says. "If you think something isn't right, 85 percent of the time you are on the money as a parent."
The CDC's new campaign aims to educate pediatricians about symptoms while urging parents to reject "wait and see" advice from a doctor.
"I think doctors are afraid of misdiagnosing this," says Bluth, who credits her pediatrician for listening to her early concerns.
Although there is little research to support its usefulness, most autism experts say that intensive therapy — which usually includes 20 or more hours a week of behavioral, speech, physical and occupational therapies — can improve a child's functioning. The earlier such therapy begins, the better, they say.
Diagnosed as autistic shortly after his first birthday, Kai Viruleg underwent extensive therapy and was able to converse, look at strangers and enter preschool by his third birthday last September. But because he no longer exhibited autistic behaviors, the school district denied Kai access to several of his previous therapies.
His mother, Jennifer Damian, had to fight to restore his services, hiring a lawyer at one point. Meanwhile, some of Kai's autistic behavior re-emerged.
"It has taken me about three months to line up new services, and he has lost a lot of ground," says Damian, of Northridge, Calif.
"Regression comes very quickly. It only takes a week of missed therapies."
Damian's determination — she quit her job to become his full-time advocate — has given Kai a chance he might not have had. Most days, Damian shuttles her son to therapy appointments, doctors' visits and school from 8 a.m. to 8 p.m. After almost two years of intense intervention he is on track to enter a normal elementary school.
"I remember the day he was diagnosed, after I finished bawling I said, 'I'm going to cure him of his autism,' " Damian recalls. "Well, autism is not a curable disorder. But he would have been severely autistic at this point if we had done nothing."