It’s generally better to detect a disease sooner rather than later, but with some slowly progressing conditions, it’s not always possible to pick out the first signs of trouble.
That’s certainly true of autism, which in most cases isn’t diagnosed in children until they are at least two years old — when parents first begin noticing that their child isn’t hitting the traditional language and social developmental milestones.
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But scientists say that it may be possible to identify the signs even earlier, at age 1: using a simple five-minute questionnaire that parents complete about their baby’s behavior, pediatricians may be able identify infants at high risk of developing autism as early as their 12-month well-baby visit.
Karen Pierce, professor of neuroscience at the Autism Center for Excellence at the University of California, San Diego, led a team of researchers who tested the screening questionnaire in 10,479 babies seen by their pediatricians for their one-year checkup. Based on the parents’ responses to the questionnaire — which asked about babies’ eye contact, use of sounds, words and gestures, and ability to recognize objects and engage with others — 1,318 infants were flagged as “failing,” which meant they were eligible to be referred to Pierce’s lab for additional testing.
Among these children, only a subset — 184 — were further evaluated using additional autism-specific tests, and, ultimately, the study found 32 cases of autism spectrum disorders (ASD).
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The rate of autism within the study population of 10,000 babies was only about half that of the population at large, but that may be due to the fact that not all of the babies who were identified as potentially having ASD symptoms were tested further. Pediatricians may not have been familiar with the referral process required in the trial, or parents might have been reluctant to get further testing.
Still, among the babies who were evaluated, the test was shown to be effective and accurate in picking up the first signs of autism spectrum disorders. And when children who had language, developmental or other delays were included, researchers said the screen correctly identified them 75% of the time.
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The test, which was developed in 2002, was initially not specific for autism. Instead, it was designed to identify babies who were at risk for communication and language delays. But because autism involves similar problems, Pierce decided to use it as a way to triage babies at high risk for autism far earlier than doctors had ever looked for the disorder before.
“Our results show we may detect about half of autism cases at the first birthday, and get these babies into treatment,” says Pierce. “We don’t know the impact of that treatment, but based on what we do know about early brain plasticity, and how the brain is wired in the first year, we really believe it helps kids to be in treatment when they are young.”
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The five-minute checklist includes 24 questions such as:
- Do you know when your child is happy and when your child is upset?
- When you are not paying attention to your child, does he/she try to get your attention?
- Does your child point to objects?
- Does your child use sounds or words to get attention or help?
- Does your child show interested in playing with a variety of objects?
The questions are designed to assess whether the infant is beginning to form connections with both people and objects in his world, and the responses are assigned a numerical value. Depending on the total, the babies in the study were judged to have either failed or passed the screen, and if they failed, their pediatricians referred their parents to an autism center for more intensive evaluation specific for autism. These tests involved two visits lasting about two hours each, and the babies were re-evaluated every six months until they were three.
“The unique thing about this screening approach is that all parents were asked to fill out a simple autism screening questionnaire in the waiting room when they came in for their baby’s one-year well-baby checkup,” Dr. Geraldine Dawson, chief science officer for Autism Speaks, said in a statement about the study. “Previous studies have shown that many infants who later develop autism show symptoms by 12 months of age. This screener could allow many more children to get intervention at a much earlier age. The fact that the screener can be done quickly in the waiting room will make it more likely that pediatricians will use it.”
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The idea, says Pierce, is for the test results to become part of the first-year checkup; by the time the doctor sees the baby, he already knows whether the child has passed or failed the screen, and can advise the parents about whether they should seek additional testing to rule out any developmental problems. When Pierce asked the 137 pediatricians participating in the study whether they currently included any consideration of autism in their first-year visit, nearly 80% said they did not. But after using the screen, 87% said it increased their awareness of autism and its earliest signs, and 96% said they found the test an effective tool they would like to use.
Identifying the babies who may be showing the first signs of autism could have tremendous benefit, not just for the infants themselves but also for researchers, who are eager to better understand and treat the neurological disorder. By catching the condition early, for example, doctors may be able to enroll babies in programs that could help them learn new behaviors that counter autism’s abnormal responses to stimuli.
At the Autism Center for Excellence at UCSD, researchers use a play-based strategy called pivotal response training. Taking their cues from what interests the baby, the trained experts work on gradually drawing out infants’ attention and encouraging them to make more socially and developmentally appropriate responses. Say a child is focused on a piece of string, and tends to ignore other attempts to gain his attention. By covering the string with her hand, a skilled clinician can start to make the baby acknowledge and interact with another person in order to get access to that string. By slowly adding other requirements such as asking the infant to make a sound to get the string, or tying the string to a doll’s arm and requiring him to play with the doll in order to untie the string, babies may be able to learn more age-appropriate ways to interact with their environment.
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Eventually, by studying more children at these earlier stages of ASD, scientists may even come up with therapies that more effectively target the developmental processes that go awry in these infants.
And even before that happens, implementing the screen could help foster a more informed and proactive medical and parent community. Already, both the pediatricians and the parents in the San Diego community participating in the study have reported that simply filling out the questionnaire improved their knowledge about what to look for in their children’s development. This heightened awareness could mean that more infants at risk for autism may receive early treatments that could help them avoid some of the severest symptoms of the disorder.
The study was published Thursday in the Journal of Pediatrics.