Autism now diagnosed early

Dad Gary agrees: "Instead of looking at us, it was like he was looking through us."

The unsettling signs kept coming. "You'd call his name and get no reaction," says Gary, a Lincoln, R.I., cardiologist. "We'd play little baby games — going 'goo, goo, goo' and get no reaction."

When Nathan had no words, or even any babbling that resembled words, several months after his first birthday, his parents really started to worry. They thought their son might be deaf. He wasn't.

Instead, he was diagnosed with autism, making him one of an apparently growing number of autistic children diagnosed as toddlers.

His parents hope early diagnosis and therapy will make all the difference. And experts say it just might: "You can make a huge difference if you get there early," says Amy Wetherby, an expert in communication disorders at Florida State University-Tallahassee.

People with autism and related disorders, sometimes called autism spectrum disorders or ASD, have trouble communicating, lack appropriate social skills and display unusual, repetitive behaviors. Many are mentally retarded. But the severity and exact mix of problems vary enormously. While some autistic children never speak or learn basic self-care, others grow up to lead independent lives.

And because the exact nature of ASD can be hard to pinpoint in young children, many doctors have been reluctant to label toddlers. Studies suggest the average age of diagnosis in the USA has been about 3½, Wetherby says.

But that seems to be changing. One reason is that parents and pediatricians are becoming more aware of autism. At the same time, researchers are learning more about the earliest signs and gaining confidence in the value of early, intense therapies that systematically teach children everything from eye contact to play skills to conversational techniques.

Not all children respond, but for many, the therapies can raise IQs, improve communication and social skills and lessen the need for special education.

And that's in children identified between ages 3 and 5. Researchers hope they will do even better with children found earlier.

"Early detection means earlier access to intervention during sensitive periods of brain development," says Rebecca Landa, a speech pathologist who leads an autism study center at the Kennedy Krieger Institute in Baltimore. The institute is one of eight centers just awarded grants by the National Institutes of Health as part of a $65 million, five-year effort to address a rising tide of autism.

While autism was once thought rare, recent government studies found ASD in 3 in 1,000 children around Atlanta and almost 7 in 1,000 children in Brick Township, N.J. A recent California study found a doubling of childhood autism cases in just four years.

Whether the increases are real or the product of better diagnosis is unclear.

Whatever the case, there is no blood test or brain scan that can diagnose autism at any age. Instead, doctors must rely on behavior. And, in the past, they often didn't know what to look for in very young children.

That's where the work of Landa, Wetherby and other researchers comes in. For the past couple of years, Landa has been tracking a group of infants and toddlers who have siblings with autism. Previous, anecdotal reports suggest up to 10% of these children will be autistic, too.

So Landa is finding repeat cases among her subjects and collecting data on how affected children differ from unaffected children at the earliest ages.

Meanwhile, Wetherby has been screening thousands of Florida toddlers, looking for telltale signs in those later diagnosed with ASD and other developmental problems.

Both researchers say they now can spot virtually any child with ASD by 2 years old — and some much earlier.

How early? While no one would diagnosis a 6-month-old with autism, warning signs can appear by then, Landa says. A typical 6-month-old, she says, has a rich social repertoire.

"If I make a face, they'll laugh," she says. "If I babble and then am quiet and let the baby know I'm just waiting, the baby will vocalize. That's turn-taking. That's a mini-conversation. ... They might not do it every time, but they should do it often."

A baby headed for autism, she says, often lacks that basic ability to connect. And there may be other signs. For example, instead of burbling and babbling with a variety of sounds, a baby in trouble may produce nothing but high-pitched squeals. By 14 months, she says, the signs can be quite clear.

"What you really want to look for is an integrated social approach ... eye contact, a smile, combined with some kind of social bid." A typical child, she says, can use gestures, sounds and facial expressions to ask an adult to look at something, get something or play a game — and can read those cues in others. An autistic child might point, use words or make eye contact but lacks the total communication package, she says.

Wetherby agrees. She says she worries when any child over age 1 can't coordinate gaze, facial expression, gestures and sounds into a smooth communicative approach.

Joy and Daniel Johnson of Elkridge, Md., know the signs too well. Their 3-year-old son, James, who had speech delays and other signs, was diagnosed with autism at about 28 months. Now, their 18-month-old son, John, "is not talking at all," Joy Johnson says. "And he really doesn't have any eye contact. When you call his name, he very rarely turns around."

John also likes to throw toys and repeatedly open and close doors. Most distressingly, says Joy, "he doesn't express his wants and needs in any shape or form" except crying.

But, through Landa's study, John was diagnosed early and already is getting speech and occupational therapy. Soon, he will begin a therapy called floor time, in which parents and therapists get down on the floor with a child and follow his lead to draw him out and get him communicating.

"John has not totally shut himself off from the world yet," his mother says. "We need to take this opportunity to get him to open his door."

Of course, most parents don't have a top researcher monitoring their children's development. They depend on neighborhood pediatricians, nurses and preschool teachers. And many professionals still don't recognize early signs or appreciate the value of early treatment, say autism treatment advocates.

"Often parents will express a concern and they'll hear, 'Oh, don't worry. ... Einstein was a late talker,' " says Nancy Wiseman, president of First Signs Inc., an organization she founded to promote early identification of autism and other developmental disorders.

Wiseman, of Merrimac, Mass., has a 7-year-old daughter who was diagnosed with ASD at 26 months and underwent intensive treatment. Although Sarah has some problems with attention, mood and speech, she attends a regular first grade and is "very social, very gregarious, very bright," Wiseman says. Without early treatment, she says, "my child would have been lost to me."

To give other families the same opportunity, Wiseman, a former corporate communications executive, has put together a kit that gives doctors tips for fitting developmental screening into busy practices. The kit also contains a video with footage of typical toddlers and those showing signs of trouble.

After a trial mailing to doctors in New Jersey, Wiseman is working with health officials in Minnesota to train doctors, nurse practitioners, educators and others to recognize children at risk. She hopes to launch a nationwide campaign.

That means that, eventually, even more parents will start their battle with autism early. They will have no guarantees of success. But they will have hope.

Nathan, now 2½, is "starting to come around a little bit," says Gary Katzman. "Sometimes he sounds like he's saying something."

But Nathan also still screams when he is frustrated, spins in circles to entertain himself and bangs toy cars against the wall instead of playing with them.

Katzman says he fantasizes that maybe Nathan will grow up to be "just a little strange" but able to function in the world. But he can also imagine a future in which his son "never really talks and is always the way he is now, infantile."

"That's what kills me," he says. "I just have no idea."