Early Autism Diagnosis: What Parents Need to Know

Science is getting closer to diagnosing autism in infancy, but in the meantime, here's what to look out for.

Autism Diagnosis in Babies Africa Studio/Shutterstock
Autism Spectrum Disorder (ASD) continues to remain a mystery for doctors and parents. The condition, which is one of the fastest-growing developmental disorders in the U.S.—affecting 1 in 68 children—is marked by a range of atypical social and communication skills and ritualistic, repetitive and stereotyped behaviors. It is often diagnosed in the preschool years. But are there any ways to identify it sooner? For Autism Awareness Month, we asked experts what concerned parents can look for, and what scientific advancements are being made.

New research finds earlier clues

According to the CDC, ASD is usually diagnosed after age four. But, a recent study from the University of North Carolina found MRIs of high-risk infants predicted 80 percent of those who would later meet the criteria for autism at age two. The scans showed the brain's surface area growth between six and 12 months was greater in children with the condition. "Physical biomarkers, such as brain imaging patterns, can be observed in these early months," Daniele Fallin, PhD, director of the Wendy Klag Center for Autism & Developmental Disabilities at Johns Hopkins Bloomberg School of Public Health, tells Fit Pregnancy. "These findings emphasize that ASD does not typically occur instantaneously in toddler ages but is instead detectable from early infancy, if the right signs can be measured reliably."

But MRIs are expensive, and babies need to be sedated to have them done. Plus, because they're not 100 percent reliable, "they're not ready for widespread applications in infancy," Dr. Fallin says. "But, they do show promise for children at high risk, such as those who already have ASD in the family."

Other promising research is being done to identify markers in blood. A recent study from Rensselaer Polytechnic Institute in Troy, New York, found certain proteins identified children with ASD almost 98 percent of the time, and children without ASD 96 percent of the time. A blood test sounds too easy—and some critics say that the test needs lots more research before it can actually be used. "There are not yet reliable blood tests for autism," Dr. Fallin says.

Why early intervention is crucial

Until science finds a proven way to medically diagnose ASD early, the gold standard remains an evaluation by a psychologist, psychiatrist, neurologist or developmental pediatrician with expertise in ASD. "A diagnosis is based on behavioral evidence alone," Paige M. Siper, PhD, chief psychologist at the Seaver Autism Center for Research and Treatment at Mount Sinai, tells Fit Pregnancy.

Although the reasons ASD develops aren't totally understood, Dr. Siper says a genetic cause can be identified in 15 to 20 percent of cases. Researchers keep finding more and more genes linked with the condition—and a combination of genetic and environmental factors may be what triggers ASD. Plus, boys are nearly five times more likely than girls to have autism, so sex plays a part as well. But so far, "no reliable predictors of ASD can be measured in pregnancy," Dr. Fallin says.

There's nothing you can do to prevent it, but what should you do if you suspect your child may have ASD? Bring it up with your pediatrician—and the earlier, the better. "The American Academy of Pediatrics recommends all children receive ASD screening at both the 18-month and 24-month well-child visit," Dr. Siper says. A digital app developed at UNC could make it easier for doctors to follow up with parents of at-risk toddlers.

But your best diagnostic tools might be in your own family. A recent study from the Seaver Center found children who spent time with grandparents were diagnosed three to five months earlier. Parents may not recognize their child has a developmental issue, but grandparents may have the perspective to see a problem sooner.

The signs to look for

Getting an earlier diagnosis of ASD is critical for developing more social and communication skills. "Clinicians agree earlier identification that triggers early intervention generally leads to better outcomes for people with ASD," Dr. Fallin says. Different behavioral therapies can be tailored to each child's individual needs, and can also give parents a better understanding of their child, she says. Dr. Siper says children with ASD may also benefit from early services like speech, physical or occupational therapies.

A Test for Autism Risk: Head Lag

Early signs of ASD within the first year of life to look out for include:

  • Lack of social smiling, making direct eye contact or imitating facial expressions
  • Difficulty following an object with their eyes
  • Delayed language milestones
  • Not responding to their name
  • Not playing back-and-forth social games
  • Motor milestone delays
  • Not following people or objects with their eyes
  • Any loss of speech, babbling or social skills at any age

Although there's no "cure" for ASD, early intervention can help children with the disorder develop skills to better function as they grow. Intensive early behavioral interventions have been linked to optimal outcomes.

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