Can doctors diagnose autism before a child is born?

Researchers in Scotland are trying to find a way to diagnose autism before a child is born.

There’s a potential breakthrough regarding autism.

Doctors might now be able to tell if a child has autism before they’re born.

Making a diagnosis of autism depends on signs and symptoms as a child grows and develops.

“Right now, we consider an early diagnosis made anywhere between 18 months and 3 years of age. Making a diagnosis before 18 months of age is really, really difficult. I don’t think anyone is making the diagnosis of autism before 18 months of age. However, you can find red flags before 18 months,” CHP Developmental Pediatrician Dr. Diego Chaves-Gnecco said.

Even as a baby, not making eye contact, not turning when their name is called, not pointing to needs — these are red flags.

But, what if you could tell even before birth?

Researchers in Scotland are working on this.

In their studies, they found as early as 20 weeks gestation, head and abdomen sizes are larger in the fetuses that grew into children later diagnosed with autism.

“The earlier we make the diagnosis, the more intensive the services are being received. That makes a difference,” Dr. Chaves-Gnecco said.

Services like physical, occupational, speech and behavioral therapy.

The study included 40 children diagnosed with autism, compared to 120 who were not.

This type of study can only show associations, but not cause and effect.

Of course, just having a large head as a fetus does not mean you will definitely have autism as a child.

“I don’t think you can make the diagnosis of autism with just measures,” Dr. Chaves-Gnecco said. “You can have a large head for many reasons. Families might have large heads.”

Prenatal care and pediatric care are important, so that any hints of something wrong can be followed.

These preliminary findings were presented at a professional conference, but have not yet been published in a peer-reviewed journal.

The gist of these findings is that perhaps, someday, there will be a prenatal measure to guide testing for the earliest possible diagnosis and intervention.

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Autism Screening for 9-Month Olds

A screening method for autism works for nine-months olds.

Researchers, including a team from Children's National Health System, have identified head circumference and head tilting reflex as two reliable biomarkers in the identification of autism spectrum disorders (ASD) in children that are between 9 and 12 months of age.

According to the U.S. Centers for Disease Control and Prevention, ASD is identifiable as early as two years old, although most children are not identified until after the age of four. While a number of studies have reported that parents of children with ASD notice developmental problems in children before their first birthday, there has yet to be a screening tool to identify those children.

"While the 'gold standard' screening tool is the M-CHAT questionnaire, it must be read and completed by parents and then interpreted by a health care provider," said lead author Carole A. Samango-Sprouse, EdD, and Associate Clinical Professor of Pediatrics at the George Washington University School of Medicine and Health Sciences. "What physicians are missing is a quick and effective screening measure that can easily be given to all infants regardless of background and identify ASD before 12 months. This screening is also helpful in identifying those babies who may not initially appear to be at risk and would otherwise be missed until much later in life."

This study looked at the use of head circumference and head tilting reflex as two biomarkers that can be used during their well-baby visits by their primary care providers. Both screenings were given to nearly 1,000 patients at the four, six, and nine-month well-baby visits.

At the end of nine months, those infants with a head circumference above or equal to the 75th percentile, a head circumference that was in 10 percent discrepancy with the height of the baby, or those who failed the head tilting reflex test were considered at risk for ASD or a developmental language delay. These infants were then evaluated by a neurodevelomental specialist and pediatric neurologist to differentiate between these disorders.

Of the 49 infants that displayed abnormal results, without previous diagnosis, 15 were identified at risk for ASD and 34 at risk for developmental language delay. Of the 15 children who were identified at risk for ASD between 9 and 12 months of age, 14 (93 percent) sustained the diagnosis when it was made clinically at the age of three.

"We will continue looking at the efficacy of the head circumference and head tilting reflex as a screening tool for these disorders," said Andrea Gropman, MD, a contributor to the study and Division Chief of Neurogenetics at Children's National. "As with all developmental delays, especially ASD, the sooner we can identify those children who are at risk, the sooner we can intervene and provide appropriate treatment. In other words, the sooner we identify these delays, the better the outcome for those affected."

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