Most children with autism are well past their fourth birthday by the time they’re diagnosed with the condition, according to new government data.
Their parents and teachers may have raised red flags earlier, but it takes months or years to confirm suspicions with a formal diagnosis. And therapy rarely starts without one.
“The school wouldn’t do anything for us until we had a diagnosis,” said Kimberly Vincent, of Wallingford, whose daughter Rebekah was diagnosed at age 6.
That’s why researchers are trying to come up with new strategies for diagnosing autism spectrum disorders as early as possible. Last month’s release of new government data showing autism spectrum disorders now affect one in 68 kids provided an extra push and sense of urgency, several experts said.
“The real question is how far can you take it down,” said Dr. Fred R. Volkmar, chairman of the Child Study Center at Yale University and chief of child psychiatry at Yale-New Haven Children’s Hospital.
There’s little doubt, he and other researchers said, that early therapy – the earlier and more frequent the better – can make a profound difference for most people with autism.
The U.S. Centers for Disease Control and Prevention announced in March that the autism rate for 8-year-olds more than doubled between 2000 and 2010. Most children identified with autism were not diagnosed until after age 4. The CDC counted autism rates in 11 states, not including Connecticut.
New Jersey, the closest state on the list, has an overall rate of 1 in 46, the highest in the nation. Officials there say they expect the rest of the country will eventually catch up, when diagnosis improves.
Although the average age of diagnosis is nearly four-and-a-half, diagnoses can reliably be made around age 2, according to Amy Daniels, of the advocacy and science group Autism Speaks, which was founded by longtime Fairfield residents Bob and Suzanne Wright.
In a study, Daniels found gaps in the current system, which relies largely on pediatricians to flag kids for later diagnosis and treatment.
“There’s a lot of questions about what happens to these kids after they screen positive,” said Daniels.
Because autism is a collection of symptoms affecting a child’s behavior, social skills and ability to communicate – rather than something determined by a number on a chart – diagnosis can be tricky. Lots of toddlers have odd interests, learn to speak late or are shy enough to want to avoid eye contact.
“I have seen a handful of kids who before age 3 looked like they had autism; after age 5 they looked normal,” Volkmar said.
So, researchers around the country are trying to figure out more objective ways to push down the age of diagnosis. The goal, Volkmar said, is to find a test that can diagnose autism as easy and reliably as early tests can identify hearing loss.
Obviously a genetic screen or simple blood or urine test would be ideal, but that’s unlikely to ever be possible, researchers said. Autism has been linked to at least 500 genes so far, and each child’s genetic pattern is distinct. Researchers at Harvard University used a 55-gene panel to try to predict autism – but they were right less than 70 percent of the time, and were even less accurate among girls, according to their 2012 study.
Others are trying to use hormones and other chemicals in the blood to diagnose autism, but those efforts remain very preliminary, and there’s still a lot of skepticism that such a test could ever be reliable enough to find kids across an autism spectrum that ranges from people who will never learn to speak, to creative geniuses hampered by extreme social awkwardness.
Although some children with autism appear normal at birth, research published last month in the New England Journal of Medicine adds more evidence to the argument that autism begins in pregnancy. Researchers from the University of California, San Diego and the Allen Institute for Brain Science found that the pattern of brain development in 11 young children who had died with autism strongly suggests that the roots of their condition were laid when their brains were still developing during pregnancy.
A number of research labs are now investigating the predictive ability of behaviors, such as eye gaze. In one study published in Nature last November, researchers from Atlanta found that babies who looked less at the eyes of others, as they got older were more likely to be diagnosed later with autism. These babies had normal gazing behavior at 2 months but focused less on eyes by 6 months.
Another group of researchers, led by Rebecca Landa, head of the Center for Autism and Related Disorders at the Kennedy Krieger Institute in Baltimore, found that children diagnosed with autism didn’t have good head control in infancy – lagging their heads behind when they were pulled to a sitting position, according to a 2012 study.
At Brown University, assistant professor and clinical psychologist Stephen Sheinkopf is trying to use the sound of a baby’s cry to predict whether he or she will go on to be diagnosed with autism.
In a 2012 study, Sheinkopf showed that babies later diagnosed with autism had unusually high-pitched cries and also something called dysphonation – essentially a noisy signal in their cries. The differences were too subtle to be noticed without audio equipment, he said, so parents won’t be able to detect this on their own.
He’s now working to standardize the analysis, but isn’t sure crying will ever be a precise enough indicator to be the basis for a diagnosis.
“It’s unclear whether it’s going to be something specific or more generally indicative of risk,” he said.
None of these tests is likely to be as definitive as screens for hearing or vision problems, though. Instead, perhaps families will get their child tested in several different ways, and doctors will diagnose if all signs point the same way.
“When we make a diagnosis, we’re not looking at any one thing. It’s definitionally a syndrome,” Sheinkopf said. “I find it likely that we will need to measure multiple indicators to identify risk.”
Dr. Harvey J. Kliman, a Yale research scientist, stumbled upon another possible early indicator of autism risk.
A placenta expert and director of the school’s Reproductive and Placental Research Unit, Kliman has long known that in children with Down syndrome and other genetic conditions, the placenta that nourished them inside their mother is filled with unusual folds. A few years ago, when asked to review the placentas of two boys with a type of autism, Kliman found subtle, but still unusual folds in their placentas.
He’s found it in others since, and is now doing research to confirm a link between this unusually folded tissue and later risk of autism. The pleats aren’t visible with the naked eye, but from his Yale lab, he is beginning to offer a screen called the PlacentASD Test to help parents learn if their child may have a higher chance of developing autism or other developmental problem.
Kliman has been promoting the test at parenting classes for pregnant couples, and said he’s been disappointed that more families don’t seem interested in learning their future child’s autism risk.
“I know it might be scary to do this test, but parents should understand that learning that their newborn is at risk for autism gives their child the best chance of early intervention, which has been shown to significantly improve outcome.”
Shannon Knall of Simsbury said she’s not sure she would have wanted someone to predict her child’s risk of autism.
“When I was pregnant, I refused amnios and all that stuff,” she said. “I was having a baby one way or the other.”
But after having one son on spectrum – Jack, now 12 – she joined studies at Yale and the University of Connecticut during her second and third pregnancies. Once a mother has had one child on the spectrum, she runs as much as ten times the normal risk of having another.
Jack was diagnosed relatively early – before his third birthday – but Knall still thinks they “lost some time and opportunities for early intervention when we were waiting around to get into a diagnostician.”
For the younger boys, doctors were able to determine around their second birthdays that neither one had autism. Knall admits those were anxious years. “With every behavior, you watch to see if it mimics autism,” she said.
Vincent, too, is ambivalent about early diagnosis. She thinks Rebekah, now 12, learned some coping skills by waiting so long for her diagnosis.
But if she’d better understood her daughter’s problems, “I think I would have been a little more patient with her,” Vincent said, and gotten her help earlier.
Ann Jordan’s experience with her son, Josh, shows why it can be so hard to get a child diagnosed early.
When he was an infant, Josh never cried – even when he was hungry or in pain, said Jordan, of Sherman. When he was a toddler, she’d watch Josh on the playground, wondering why he played alone instead of with other kids. Her pediatrician reassured her that boys were just like that sometimes.
By the time Josh was two-and-a-half, Jordan was convinced there was a problem and called in the state’s Birth to Three system. Evaluators agreed, and they started Josh on intensive speech, behavioral and physical therapy. He didn’t need a diagnosis, the clinicians told Jordan; his problems were clear.
But they were less clear when Josh arrived in kindergarten. His expensive special education classes and occupational therapy sessions were pulled.
Early in first grade, his teachers started raising concerns, but it took that whole year before the school district agreed to pay for testing. In October of second grade, Josh was diagnosed with autism.
“Ever since he had that label, I haven’t had an issue with the school,” said Jordan. “Without that [label], at any time they can pull the rug out from underneath you.”
She does wish she hadn’t missed out on those years of extra therapy, though – a sentiment shared by nearly every autism parent and caregiver.
Getting children diagnosed earlier will help address that problem, Yale’s Volkmar said.
“Kids with autism can make major shifts. We can turn someone who would have mental retardation into someone who is fully functional in society,” he said. “That’s why [early diagnosis] is so important.”