Every pediatrician knows that it’s important to diagnose autism when a child is as young as possible, because when younger children get help and intensive therapy, their developmental outcomes improve, as measured in everything from improved language, cognition and social skills to normalized brain activity.
“The signs and symptoms for most children are there between 12 and 24 months,” said Dr. Paul S. Carbone, an associate professor of pediatrics at the University of Utah and a co-author of “Autism Spectrum Disorder: What Every Parent Needs to Know,” published by the American Academy of Pediatrics. “If we can get them in for evaluation by then, the therapies are available as young as those ages, you can easily start by 2,” he said. “We’d like to give kids the benefit of getting started early.”
That means taking parents seriously when they bring up concerns about what they regard as strange behaviors and interactions on the part of babies and toddlers, and it also means that we try to screen all our patients, often with a checklist for parents to complete, like the Modified Checklist for Autism in Toddlers, or M-CHAT. Children whose scores indicate a concern are then supposed to be referred on for a full developmental assessment. The Centers for Disease Control and Prevention’s website lists developmental milestones to look for; missing them may be an early sign of autism.
So we all know this is important. We also know that we are not, collectively, doing a very good job of screening all children, that the questionnaires often over-identify children who don’t actually need full assessments, and that the referral process can be plagued with long waits (and when a young child has to wait months for the assessment, that works against the benefit of early diagnosis). Children in minority groups are diagnosed at an older average age than white children, and therefore get therapy later, contributing to increased disparities.
“We’re trying to develop methods that might add more precision,” said Geraldine Dawson, a professor of psychiatry and behavioral sciences at Duke University, and the director of the Duke Center for Autism and Brain Development.
Autism is by its nature a social communication disorder, Dr. Carbone said, and two relatively specific early signs are failing to look at a person who calls your name and not manifesting what is called joint attention. As early as 9 months, and reliably by 18 months, a neurodevelopmentally typical child will look back and forth between an object of interest and a caregiver, attempting to create a mutual experience; a child on the autism spectrum is less likely to do this.
Researchers looking to find a biomarker that may help with the early diagnosis of autism have seized on the question of how young children react to hearing their names called. Dr. Dawson was the corresponding author on a study in April in the journal Autism which used computer vision analysis to look at the reactions of toddlers from 16 to 31 months old, in response to hearing their names called. Those with autism spectrum disorder took significantly longer to look away from a video and orient toward the person who had called.
“Toddlers and infants who will go on to develop autism are paying attention to the world in a very different way,” Dr. Dawson said.
The hope is eventually to make a tool that would be easily available in low-resource countries, or in any area in the United States, perhaps by having parents collect data on their phones.
“It’s very important to screen for autism early,” Dr. Dawson said. “We have research that suggests that parents are quite good at noting that a child is not behaving normally, and it’s important to get children diagnoses.”
The gold standard for diagnosis is to have the child evaluated by experts in behavior and development. Dr. Susan Levy, a developmental pediatrician at the Center for Autism Research at the Children’s Hospital of Philadelphia said, “Right now, unfortunately the average age of diagnosis according to the C.D.C. is around 4 or a little bit older. The hope is to get it closer to 2.” Diagnosis is currently made clinically, after a family has waited out what can be a long time on a waiting list.
“Diagnosis is made by a really good history of what the child’s development has been like in the different streams of development, language, motor,” she said. The specialist also observes the child directly: “We look closely at social skills, at how they respond to their name, are they using eye contact to find out about others’ thoughts, are they using language to communicate, do they have any repetitive or unusual behaviors?”
The assessment also needs to look carefully at any repetitive behaviors, she said, and ideally may involve a team of specially trained observers with expertise in speech and language and occupational therapy.
And then, for children whose development and behavior are concerning, there need to be complex conversations with the parents. “We talk about where their skills are now, how their development may differ, what makes it harder for them,” Dr. Levy said. “About what their strengths and weaknesses are and what characteristics they have that are consistent with the criteria for having an autism spectrum disorder.”
The younger they are, she said, the more challenging it is to predict what their trajectories may be, although, of course, the younger they are, the greater the hope of changing those trajectories for the better. And that will mean that the family needs to establish a strong relationship with the people who will work with the child.
“It’s not a sprint, it’s a marathon or a triathlon,” Dr. Levy said. “It’s important to find providers you’re comfortable with, who are not promising quick fixes — there are no quick fixes for a family with a diagnosis of autism.”
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