Screening Guidelines Enable Early Autism Diagnoses, Treatment

Children should be screened for autism during routine checkups beginning in infancy, say new guidelines promoting early treatment of the socially isolating disorder that affects one in 500 youngsters.

Autism is characterized by problems with spoken and unspoken communication as well as withdrawal from the outside world. Although it usually appears within the first three years of life, some of the earliest signs are often dismissed as common developmental delays.

“Most primary-care physicians, not just pediatricians, tend to reassure parents that everything is going to be OK, that they’re going to grow out of it, that boys don’t talk until later than girls anyway so don’t worry about it,” said Dr. Pauline A. Filipek, lead author of the guidelines. “It’s not OK for a boy not to talk until he’s 3.”

Under the guidelines, published in the Aug. 22 issue of Neurology, any child with an indication of possible autism should be tested for hearing and developmental problems. If the results continue to suggest autism, the child should have a neurological evaluation by a physician experienced in diagnosing autism.

“The first hallmark is kids who don’t point or babble or gesture by age 12 months, or any child who loses any language--who seems to not be responding as well to his or her name as they once did,” said Filipek, an associate professor of pediatrics and neurology at UC Irvine.

Other key indicators are an inability to speak single words by 16 months, a lack of two-word phrases by 24 months, or loss of social skills at any age.

If a child misses those milestones, parents should demand an evaluation, Filipek said.

A recent survey showed that among 1,300 families, the autistic child was diagnosed at an average age of 6, even though most parents felt something was amiss by 18 months.

Fewer than 10% of autistic children were diagnosed when their symptoms first appeared, the survey found.

Early diagnosis makes it easier to devise an educational plan for the child, locate support and education for the family and arrange appropriate medical attention. Because autism is 50 to 100 times more frequent in close relatives, it’s important to screen siblings.

Liz Anderson, a Fort Wayne, Ind., mother of two autistic sons, says doctors in California, where her family used to live, missed the diagnosis in both boys, now 5 and 4.

Having studied psychology and worked with autistic children, Anderson suspected something was wrong with firstborn Christopher from birth. By 7 months, “there was no eye contact, there was no babbling, no play.” His pediatrician dismissed her worries. So, too, did a pediatric neurologist and another specialist, both at major hospitals.

But Anderson remained convinced her son was autistic even when doctors called her “an overreactive mother.”

Just before Christopher turned 3, she got a long-awaited appointment with UCI’s Filipek, who diagnosed autism. Anderson also had Filipek evaluate her younger son, Nicholas, whose behavior was quirky and who one day stopped “responding to his name, just like my other son.” Filipek said he too was autistic.

But with aggressive intervention, Christopher today talks and attends a regular kindergarten class, while Nicholas has regained his speech.

Anderson recommends parents not delay getting a proper evaluation because “every day you wait, you’re losing critical time.”

Concerns that autism is often diagnosed late led Filipek and colleagues in the pediatrics and neurology communities to begin meeting three years ago in search of a solution. A subcommittee of the Academy of Neurology and the Society of Child Neurology ultimately drafted screening and diagnostic guidelines for primary-care doctors, pediatricians, medical specialists and parents.

The guidelines, endorsed by major groups representing neurologists, hearing specialists, autism activists and psychologists, are intended as a tool to help doctors recognize problems.

Although doctors are seeing more autism diagnoses, Filipek isn’t sure “we’re actually seeing an increase in the rate.” She said the rate of children with the most severe autism is holding steady, but diagnoses are up among so-called high-functioning autistic children who have strong skills in some areas.

In the past, many of them would have been diagnosed with “pervasive developmental disorder.” But today, it’s being labeled autism because there is “less fear of the A word.’ People are coming to understand it’s not as rare as it was once thought to be. Indeed, it’s more common than any of the other childhood disorders.”

Some parents believe that their children’s autism began after they received the measles-mumps-rubella vaccination. Although researchers are looking at vaccines as a possible contributor to autism, Filipek remains a strong believer in vaccines.

“The risks of the diseases are much higher and the [medical complications] of the disease are much higher,” she said. She also tells them she sees signs of autism in autistic kids’ younger siblings, at 6 to 8 months, “well before they get an MMR vaccine.”