Early Screening Test for Autism Shows Promise

With all the talk about Dr. Andrew Wakefield and his bogus research that fraudulently linked autism to MMR vaccine, you might have been left with the false impression that autism isn't a real disease.  Take my word for it:  autism is as real as it is heartbreaking for parents. 

An estimated 190,000 children in Canada have autism, a spectrum of disorders whose symptoms include difficulty with communication and social interaction, as well as unusual behaviors and interests.  Early diagnosis is considered a key to minimizing the impact of the disease.  But that's a goal that has eluded doctors until now.  A recent study finds that a simple questionnaire might be able to diagnose autism in children as young as one year of age.

Researchers with expertise in autism from the University of California at San Diego concluded that a brief checklist that parents can fill out while waiting to see their child's family doctor or pediatrician CAN aid in diagnosing autism in kids as young as one year of age.  They recruited one hundred and thirty-seven pediatricians in the San Diego area to give parents of one year olds a twenty-four question-screening test to fill out before seeing the doctor. The test was designed to detect general communication delays, not specifically autism.  Babies who failed the screening were referred for more thorough assessments, including MRIs and a blood test, and were followed until they were three years of age.  Of nearly 10,500 babies screened, one hundred eighty-four were referred for further evaluation. About seventy-five percent of those children who failed the initial screening questionnaire were found to have autism or some other significant disorder causing language or development delay.  That's a very solid detection rate.  The study was funded by the US National Institute of Mental Health and was published last week in the online edition of the Journal of Pediatrics.

The questionnaire asks whether the infant (remember, we're talking infants here) makes eye contact with mum and dad.  It also asks what if any forms of communication the infant uses.  These include words, sounds, hand gestures, facial expressions and other forms of communication.  Specific questions in the survey include asking if the child smiles or laughs while looking at mum? Does your child pretend to play with toys? The survey also asks if the parents know when child is happy and when the child is upset.  These are the kinds of things that are quite abnormal in kids with some form of autism.

The study is important because it's inexpensive and fast to do.  Currently, pediatricians and family doctors have no way to screen for autism or other development delays until the child is several years older.  And that's a big problem because early treatment has been shown to improve outcomes for children.  The purpose of this study was to see if pediatricians could make the diagnosis of autism sooner and if that resulted in kids getting into treatment sooner, and it did.  The children identified as possibly having autism were referred for treatment at an average age of seventeen months, much earlier than kids would be otherwise.  A 2009 study from the US Centers for Disease Control and Prevention found that, on average, children receive an autism spectrum disorder diagnosis at around 5.7 years old and get into treatment much later than these kids did.

All studies have limitations and this one's no exception.  There were forty-five false positives in the study.  One can only imagine the anxiety the parents of those kids went through until they found out they didn't have autism.  Even if the test is fine tuned to make it more accurate, this particular questionnaire will never catch all cases of autism in one year-olds because some cases develop later in childhood while other kids develop mostly normally until age eighteen months or so and then begin to lose developmental skills.  The screening test also would not pick up Asperger's syndrome, a form of autism in which people have severe difficulty in certain social situations yet do not have problems with language.

This is the first and only study to demonstrate the feasibility of using a really broad screening measure like this in a doctor's office.  We'll have to see more studies before autism experts give it the thumbs up.  But autism researchers are excited by the possibility of having an easy screening test to apply to their practices.  Since the study was completed, ninety-six percent of the pediatricians who participated in it rated the screening test positively, and all of them have continued using the screening tool.  That's quite a testimonial.

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