What Parents Should Know About the Push to Detect Autism Earlier

The earliest signs that a child may have autism are commonly noticed by parents.

In particular, parents frequently have concerns that their child is missing significant developmental milestones, particularly as they pertain to social or behavioral interactions, says Mathew Pletcher, head of genomic discovery at Autism Speaks, an organization dedicated to promoting solutions for people with autism and their families. “So things like no big smiles or joyful expressions by 6 months, no back and forth sharing of sound or facial expressions by 9 months, and no babbling by 12 months.”

As noted by Autism Speaks, there are other signs a child may be at risk for autism, or autism spectrum disorder, a range of conditions marked by challenges with social skills, repetitive behaviors and speech as well as other difficulties and differences. Those include no back-and-forth gestures such as pointing or waving by 12 months or no words by 16 months. (Parents can also check out the Modified Checklist for Autism in Toddlers, an online questionnaire on the Autism Speaks site, which can be filled out and taken to the child's doctor if a parent has any concerns about their child's development.)

“Early detection is important in autism, because many studies have now shown that about the only way we can affect the trajectory of autistic symptoms is by intervening early – and the earlier the better,” says Dr. Brad Peterson, director of the Institute for the Developing Mind at Children’s Hospital Los Angeles. “There are a number of different interventions, from occupational therapy to physical therapy to psychological therapies, that can reduce degrees of developmental delays or lags in certain domains, like motor functioning, language functioning, communication and especially social communication – which is the defining hallmark of autism.”

However, the younger the child the harder it is to diagnose autism, as developmental challenges unfold and signs become more readily apparent with age. So diagnosing autism by age 3 can be challenging and, Peterson says, diagnosing it by age 2 is very challenging; that’s typically the earliest experts say it can be diagnosed in most cases.

The American Academy of Pediatricians recommends screening all children for ASD at the 18 and 24 month visits along with regular developmental surveillance, notes Dr. Susan Hyman, a spokeswoman for the American Academy of Pediatrics and a professor of pediatrics at the University of Rochester Medical Center. “This type of screening can identify children with significant developmental and behavioral challenges early, when they may benefit most from intervention,” she says.

In addition, experts say kids at higher risk for developing autism should be closely monitored to ensure the earliest possible diagnosis. That includes those who have a sibling with autism, as well as children with certain conditions, such as the genetic conditions fragile X syndrome or tuberous sclerosis, which are known to co-occur with ASD, and children who were born prematurely, Hyman says.

While experts typically recommend starting with the child’s doctor and getting a referral to a specialist as needed to make that determination, Peterson says parents may need to do some legwork to find professionals who are sufficiently trained in diagnosing young children with autism. “You would probably need to go to either a child psychiatrist who has experience in early diagnosis or a developmental pediatrician or a specifically trained neurologist,” he says. “It’s a challenge to find people who have that expertise and can diagnose appropriately say by age 2 years or 2 and a half years. But that expertise is absolutely essential.”

Additionally, research finds brain differences that begin to emerge in the first year of a child’s life may predict whether a child will go on to develop autism – at least perhaps in children who have a sibling with autism. In a study published in the journal Nature in February, researchers using magnetic resonance imaging, or MRI, found a hyper-expansion, or increased growth rate, of the brain surface area between 6 and 12 months in 15 high-risk infants who were diagnosed with autism at 24 months. This hyper-expansion preceded so-called brain volume overgrowth observed in the same high-risk infants between 12 and 24 months; and it was linked to the emergence and severity of autistic social deficits.

“What we’re showing is that we can detect brain changes in this high-risk group as early as the first year, and that’s before the appearance of autism,” says study senior author Dr. Joseph Piven, a professor of psychiatry at the University of North Carolina School of Medicine.

Peterson called the significant effort undertaken to do the research “heroic,” and it may hold promise for the future amid a push for ways to predict the development of autism and intervene earlier with treatment. However, Peterson noted that given the sheer technical difficulty involved, including in simply getting usable MRI data for toddlers who are seemingly always moving, as well as the criteria that limited who was considered at high risk for developing ASD for the purposes of the research, the study sample is understandably small; and Piven as well as clinicians not involved in the research point out that the results need to be replicated before it might be applied in a clinical setting. “As far as practical implications today, we’re not there yet,” Piven says.

At present, there is no biological measure or brain marker that’s used by clinicians to predict the development of autism. But Pletcher says in addition to imaging research, genetic research may provide a window into earlier detection and more tailored treatment of autism. “We continue to find more and more genes that we know are associated with autism, which should hopefully open up the possibility of doing very early genetic screening to identify – not just the fact that a child is at significant risk [or has a] significant likelihood of developing autism, but what kind of autism,” he says.

For now, experts say, the best thing parents can do – particularly those with children who might be at higher risk for developing autism – is remain vigilant to potential signs of ASD, and seek medical opinion regarding any concerns. Anecdotally at least, it appears that motor skills and language skills are probably the most readily affected and malleable and best aided by early intervention, Peterson says. But what’s clear from research is that early detection makes a difference overall for kids with autism. “Numerous studies have shown that the same interventions applied later in childhood are less effective at altering those developmental trajectories,” he says.