Latest Neurology News
By Brenda Goodman, MA
WebMD Health News
Reviewed by Smitha Bhandari, MD
March 30, 2015 -- The video shows a toddler in an exam room. She's been dressed in fuchsia shoes, a leopard print top, and a matching bow. Her brown hair is neatly combed. She walks well for a 15-month-old, wobbling only a little as she navigates the room's pint-sized chairs and tables.
Her mother sits in a corner of the room with her knees pressed together, her body hunched forward. Her hands clutch the edge of her chair.
A psychologist comes in. She walks over to a shelf and pulls out a small purple bathtub. The spout is a flower. There's a baby doll and other toys in the tub.
"Let's get her ready for her bath!" the therapist says, sitting on the floor to be closer to the girl. "Take off her robe," she says, undressing the doll.
The little girl doesn't look up.
"Hot!" the therapist says, as she runs her hand under the imaginary water. "Let's wash the baby. Can you wash the baby?"
The little girl doesn't look up.
She walks over to the bathtub. She takes each toy, one by one, and flings them behind her with the same straight-armed motion. The rubber duck, the baby doll, the pretend soap and shampoo bottles. They clatter on the floor.
The psychologist sings the rubber ducky song, "Rubber ducky, you're the one! Who makes bath time lots of fun!"
The little girl doesn't look up.
She flings the tiny towel, a hairbrush. They land behind her with thuds.
At that moment anyone can see it. Something's not right with the little girl.
Spotting Autism in Babies
Even though it's unusual for psychologists to determine that a child has autism before they're 18 months of age, the little girl in the video was diagnosed "that day," says Erin Brooker Lozott, a speech-language pathologist at the Marcus Autism Center in Atlanta. Lozott later worked with the family.
The medical team felt comfortable making the call, she says, based on the number of red flags the child was already showing. She also had a sibling with autism, which dramatically raised her risk of having the condition.
And without knowing it, she became part of a growing movement in medicine, a push to find and treat children at risk for autism at younger and younger ages -- even in the womb -- in the hope that their social and emotional development can be boosted to normal or near-normal levels.
The Marcus Center, along with the University of California and Boston University, is one of three federally designated "Autism Centers of Excellence." Researchers at Marcus are working on several ways to detect the disorder at earlier ages.
The little girl is part of a nationwide study that focuses early behavior-therapy efforts on the baby brothers and sisters of children who've already been diagnosed.
A baby boy has a 1 in 4 chance of getting the disorder if an older sibling also has it. For girls, the risk is about 1 in 9.
That's far higher than the risks seen in the general population, where 1 in 42 boys and 1 in 189 girls has autism at age 8, according to the latest figures from the CDC.
Researchers who are leading the study hope to recruit a total of 330 infants into the study. Each child will be screened using the current "gold standard" for spotting autism, a structured interview called the Autism Diagnostic Observation Schedule, or ADOS.
The exercise with the purple bathtub is part of the ADOS. Researchers have been capturing their evaluations on video as part of the clinical trial.
The researchers believe the motion the little girl made with her arm as she threw the toys was the beginning of a repetitive behavior -- a telltale sign of the condition.
The Marcus Center is also working on a new test for autism that works by tracking a baby's eyes as they watch videos of people talking. They used the new technology to show that babies who go on to get autism begin to make less eye contact with human faces as early as 2 months of age.
If those results can be repeated in a larger clinical trial set to begin in July, Ami Klin, PhD, who directs the center, says they'll seek FDA approval for the technology, which could become the first objective test for autism.
"That's our goal. I'm excited, but it's premature," Klin says. The trial will take place at seven to nine sites around the country.
Klin's vision is to put the scanner in pediatrician's offices, where doctors would test children at well-baby checkups that fall between the ages of 18 and 24 months.
In their race to be first, the Marcus Center team has plenty of friendly competition.
At the University of California at San Diego (UCSD), researchers have already deployed a new questionnaire that pediatricians can use to screen babies as young as 12 months of age. They're also working on a different kind of eye-tracking test.
At UCSD and Harvard, doctors are working on blood tests to catch babies at risk. The UCSD test correctly identified boys as young as 12 months of age who were later diagnosed with autism about 83% of the time. That's a higher rate of accuracy than the questionnaire that many parents fill out at 18-month well baby visits, the MCHAT-R (Modified Checklist for Autism in Toddlers, Revised), according to the study authors. Other groups of researchers at Duke, Harvard, and the University of Washington think it may be possible to identify infants with autism by measuring the electrical activity of their brains as they watch videos.
Timing of Help Is Key
Getting to children earlier is crucial. Study after study shows that babies at risk who get intensive, early behavioral therapy, well before they start preschool, fare much better than children who are found and treated later. Eventually, some may not even be considered autistic anymore.
Researchers are careful to qualify these studies. Some children with autism seem to improve over time even without extra help. It's not possible to know for sure if early behavior therapy changed their fates.
But studies that have followed similar groups of babies who didn't get early therapy are compelling. In one small study, only 1 child out of 7 who participated in an early intervention program went on to be diagnosed with autism by age 3, compared to 3 out of 4 kids in a group that didn't get this kind of treatment.
"Unfortunately, autism is really no different than any other medical issue. If you have cancer, the earlier you catch it, the better your prognosis is," says Liz Brown, an Atlanta mother whose son, George, was diagnosed with the disorder when he was 2-and-a-half.
Her son's diagnosis was a double blow. Just a week earlier, Brown had learned she was pregnant. "I was completely terrified. There's such a strong genetic component," she says.
When Brown, who is an occupational therapist, found out about a study for the "baby sibs" of children with autism, she was eager to sign up.
Her youngest daughter, Anna Claire, was 6 months old when she joined the eye-tracking study at Marcus. "She was baby number one in the Atlanta study," she says.
Thankfully, there were no red flags for Anna Claire. But Brown says the study provided great peace of mind.
"It was exciting to me to know that if something were wrong, if we were heading down the autism path again, we could jump on it as soon as possible," she says.
Eighty-five percent of the nerve cells in a baby's brain are set by age 2, says Jennifer Stapel-Wax, PsyD, director of infant and toddler clinical research operations at the Marcus Center.
Yet kids with autism typically don't get a diagnosis until age 4 or 5. Minority children lag even a year or 2 behind that.
"Those children are already behind in language, they've already got pretty pronounced stereotypic behaviors that interrupt their productive learning of other things," Stapel-Wax says. And because they have trouble expressing themselves, many have developed what she calls "challenging" behaviors -- temper tantrums, biting, and self-harm -- that become crude ways to communicate. Those habits then become the focus of treatment.
Still, children with autism can almost always be helped, no matter how old they were when they were diagnosed.
But according to Stapel-Wax, "if we intervene that late, we're dealing with the behaviors associated with autism. We're not actually dealing with autism," she says. "If we move inside the window of 0 to 2 years old, then we're actually dealing with autism -- that social and communication difficulty and potential disability that will drive everything else."
The stakes are high. Surveys of young adults with autism suggest that only about half have ever held a job in the decade after they graduated high school. And even when they can get work, it's often for menial pay. They're also less likely than kids with other kinds of disabilities to leave home and live on their own.
The Power of Language
Along with the eye-tracking study, a companion project at the Marcus Center is studying the way babies learn to talk and respond to human speech.
Once a month, Gordon Ramsay, PhD, director of the center's Spoken Communication Laboratory, sends babies and their mothers a small recording device in the mail and a pair of overalls with a pocket on the front. The babies wear the recorder for a full day, from the time they wake up until they turn in at night. He's using it to capture how mothers talk to their babies, and how that, in turn, influences the way the infants learn to talk.
Another arm of the study is using 4-D ultrasound and fetal monitoring to watch how babies in the womb respond to their mother's voices.
The goal is to develop a reference library for speech patterns that would help researchers tell when a child has veered off the normal path for language development.
About 1 in 5 kids with autism never learns to speak. Another 1 in 5 will begin to speak but lose that ability in the second year of life, "because it doesn't have any meaning to them. It's not useful," Ramsay says.
"Moms tell us it's one of the worst things," he says. "Watching your child lose the ability to vocalize and speak to you is very stressful."
"It cripples their social development and their ability to have an independent life if they can't speak," he says.
Together with the eye tracking, the researchers hope to develop what they call a "template of attention" -- a way to separate what is normal from what is not. It could be a way to screen babies, even before they can fully express themselves, for developmental problems.
As soon as she was diagnosed, the little girl in the video was enrolled in the Marcus Center's early behavior therapy study, which is testing a kind of therapy called Early Social Interaction.
When autism is spotted this early, treatment revolves around the natural bond a baby has with his or her primary caregiver, usually Mom. And psychologists are testing ways to teach mothers how to deliver this kind of treatment at home, rather than relying on professionals and office-based setting.
"It's altering what children find rewarding and what they're paying attention to," says Geraldine Dawson, PhD, a professor of psychiatry and behavioral sciences at Duke University.
Normal babies learn by paying attention to people's faces and voices, but babies with autism pay more attention to objects than people.
"With intervention, what we do is we naturally use what the child is interested in," says Dawson, who helped develop one of the first play-based treatments for children with autism, called the Early Start Denver Model.
Parents, for example, might position themselves so that when the child is playing with a train, their face is right behind that train. Or they might hold parts of the train in their lap so if a child wants them, they have to interact with a person.
"Once they start paying attention to people, we open a wide range of learning opportunities," she says.
In the next video with the little girl, her mother presents two different books, and waits for her to choose one. When she makes a clear choice, Mom opens the book. The little girl also gets a job to keep her engaged in the activity -- she has to turn the pages. Mom has learned to "read" at the pace the girl turns the pages. And she doesn't worry about getting the text exactly right.
As the little girl flips, Mom taps on the pictures in the same rhythm. "Brown bear, brown bear," she says. "Green frog, green frog."
After a few pages, the little girls jumps up and walks away from the book. She runs over to an easy chair and buries her face in the seat cushion. Mom knows she needs a break. It's hard for her to stay focused. She waits. Eventually, the girl comes back.
The 9-month treatment includes twice-weekly visits from the therapist, training for the parents, and group sessions at the center. After it's over, researchers will continue to follow the children through age 3, with parents getting monthly "booster" sessions.
The moms and their kids are videotaped once a month to document their progress.
In a later video, the little girl is given a choice between two toys. She chooses the Jack-in-the-box. She squeals with delight. And she's given a job: to turn the crank. She knows the song, and as the cadence builds, she turns more slowly, anticipating the Pop! of the doll leaping out of the lid. It does.
And then a beautiful thing happens. It lasts just a split second, but she looks up at her mother, locks eyes, and grins.
The researchers gasp.
"It's so huge for her," says Brooker Lozott, the speech-language pathologist.
"That look," she says, "is a look that's going to last a lifetime for her."
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