A simple checklist for the subtle signs of autism in 1-year olds, that takes parents only five minutes to complete while sitting in the pediatrician’s waiting room, performed so well in a feasibility study that the researchers hope it will one day form part of routine screening at well-baby checkups and spur life-changing earlier diagnosis and treatment of autism spectrum disorder (ASD).

A report of the study, which could also be a model of how to set up a network of pediatricians who incorporate such a checklist in their regular practice, is due to appear online ahead of print this week in the Journal of Pediatrics.

Many studies show that autism is rarely diagnosed before children start school, denying them the opportunity to receive treatment that could greatly improve their later development and learning. Also, there is often a significant delay between parents reporting their concerns and the eventual diagnosis.

According to the Centers for Disease Control and Prevention, the average age of ASD diagnosis is between 5 and 6, yet most children are already showing subtle signs by the age of 3.

Bearing in mind these aspects of late and delayed diagnosis, Dr Karen Pierce, assistant professor in the University of California San Diego (UCSD) Department of Neurosciences, and colleagues from the UCSD Autism Center of Excellence (ACE), set up a trial network of 137 pediatricians across San Diego County and invited them to attend a one-hour seminar to learn how to administer a checklist as part of their existing well-baby check-up for 1-year olds.

The checklist is the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist: a brief 24-item questionnaire designed to spot signs of ASD, language delay, and developmental delay. The parent or caregiver answers questions about how the child uses eye contact, words, sounds, objects, gestures, and other means to communicate.

The pediatricians referred any children identified by the screening checklist to the ACE for further tests, after which they were also re-evaluated every six months until they reached their third birthday.

The results showed that:

  • 10,479 babies were screened with the checklist.
  • Of these, 184 were referred for further evaluation.
  • Of the 184 children, 32 have received a provisional or final diagnosis of ASD (this rate is consistent with current rates of diagnosis expected at 12 months, after excluding late onset and regression cases, noted the researchers), 56 have been diagnosed with language delay, 9 with developmental delay, and 36 with some other form of delay.
  • Thus the total predictive value of the checklist screen is 75%.
  • Following the screen with the checklist, all those diagnosed with ASD or developmental delay, and 89% of those with language delay were referred for behavioral therapy.
  • On average, these children were referred for treatment at 17 months of age.

The researchers also surveyed the pediatricians in the trial network to find out how they had changed their practice.

They found that before being inducted into the trial, few had been systematically screening babies for ASD. But after joining the trial, 96% rated the program positively, and 100% have continued to use the checklist.

Pierce told the press that given there is currently no universal ASD screening for 1-year-olds, this program “could be adopted by any pediatric office, at virtually no cost, and can aid in the identification of children with true developmental delays”.

“There is extensive evidence that early therapy can have a positive impact on the developing brain,” said Pierce.

“The opportunity to diagnose and thus begin treatment for autism around a child’s first birthday has enormous potential to change outcomes for children affected with the disorder,” she added.

Dr Thomas R. Insel, director of the National Institute of Mental Health (NIMH), part of the National Institutes of Health who helped the study, said:

“Beyond this exciting proof of concept, such a screening program would answer parents’ concerns about their child’s possible ASD symptoms earlier and with more confidence than has ever been done before.”

The researchers said the checklist screen should now be validated and refined, and more studies should be done to track children until they are older, and also assess barriers to treatment follow up.

An NIMH Autism Center of Excellence grant as well as Autism Speaks and the Organization for Autism Research also helped pay for the study.

“Catching, Studying, and Treating Autism Early: The 1-Yr Well-Baby Check-Up Approach.”
Pierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, Gallagher N.
J Pediatr. 2011 Apr. [Epub ahead of print]

Sources: NIH/National Institute of Mental Health, University of California, San Diego Health Sciences.

Written by: Catharine Paddock, PhD