No More ‘Wait and See’

Depending on who you are, where you live, and your insurance company or health care provider, the journey for children to receive a diagnosis of autism spectrum disorder (ASD) can take a while. 

In the US, children with signs of autism experience, on average, two years of delay before diagnosis and even longer if the children are from racially, ethnically, or economically disadvantaged backgrounds. 

Valuable years, lost. 

This despite decades of research showing that earlier interventions produce better outcomes and the advent of advanced technologies that can assist with diagnoses. 

“Most parents of children with autism report having had concerns before the second birthday, yet the median age of a US autism diagnosis is 4 to 5 years,” says Emory neuroscientist Warren Jones, the Norman Nien Distinguished Chair in Autism and director of research at Marcus Autism Center,  a subsidiary of Children’s Healthcare of Atlanta. 

Objective biomarker tests could help reduce diagnostic delays and connect children with services earlier, says Jones.

Jones and Ami Klin, director, Marcus Autism Center and division chief of Autism and Developmental Disabilities at Emory School of Medicine, are co-creators of EarliPoint™ Evaluation, the first biomarker-based, eye-tracking diagnostic technology tool. 

This FDA-approved tool is authorized for use in children between 16 months and 30 months of age to aid in the diagnosis and assessment of autism.

“We measure the way children look and learn about the world at a rate of 120 times per second using eye-tracking technology,” Klin says. “This behavior, social visual engagement, is a foundational skill for the acquisition of speech, language and communication, and reciprocal social interactions.” Typically developing children take advantage of these “hot spots” of socialization—salient aspects of the social scenes they are watching. “But the way children with autism experience the videos is remarkably different: they look elsewhere, often to objects rather than people, and miss thousands of opportunities for social learning,” he says.

Indeed, studies have shown eye tracking of social-visual engagement to be a highly sensitive diagnostic tool, successfully identifying children who were diagnosed with autism by clinical assessment in 80 percent of cases. 

While this technology is a major move forward in detecting autism, obstacles remain. The issue: getting health care professionals to use the device and make a clinical diagnosis, says Klin, who has been researching autism for more than 30 years.

“In the past couple of years, we have seen a tremendous uptick of screening for autism. It’s quite high nowadays, but then there are families whose children have screened positive for autism and still they cannot get access to a diagnosis,” says Klin. 

Despite a federal mandate in the US that children who show developmental delays before age 3 should be provided with services, he adds, the emphasis on early intervention “rings hollow when parents can’t get a diagnosis. And without a diagnosis, families can’t get access to appropriate treatment.” 

The barriers to access, he says, include a paucity of expert clinicians, limited knowledge of the importance of a diagnosis to families, and an unwillingness by many clinicians to make a diagnosis and/or to adopt newer technologies, among others. “Autism can be diagnosed by any physician or any clinical psychologist with experience in the field. So, primary care pediatricians could potentially make a diagnosis of autism, but they are typically not trained, prepared, or willing to do so,” says Klin. “Many also do not believe that a diagnosis will result in services.”

Emory autism researchers are building on Klin and Jones’s groundwork and other discoveries in the field to create innovative therapies that improve outcomes for those on the spectrum. 

Understanding obstacles

Celine Saulnier, a clinical psychologist, adjunct professor at Emory School of Medicine, and owner of Neurodevelopmental Assessment and Consulting Services in Decatur, and Cheryl Klaiman, a professor of pediatrics at Emory School of Medicine and program director for diagnostic services at Marcus Autism Center, met at Yale and worked at the Marcus Autism Center together for a time. 

They have collaborated on numerous clinical trials, regularly evaluating individuals for ASD, and have written a bevy of research studies and a book on adaptive behavior assessments, a measure of how individuals apply their skills in their everyday routines. 

In typical development, a person’s cognitive capacity and skill set are usually one and the same. 

“If I have the capacity to perform a skill, whether toothbrushing, dressing, social interaction, conversation­—then I do those things within my capacity,” says Saulnier. “In autism that doesn’t happen. For whatever reason, individuals don’t intuitively know how to apply their skills functionally. So, they could have a huge repertoire of language and a high IQ, but they don’t functionally interact with anybody, they don’t know how to navigate the social world. These are adaptive deficits.”

The two researchers focus on diagnostic profiles in general: “What does the autism symptom presentation look like in a 6-month-old vs. a 16-year-old vs. a 60-year-old, and what is the individual’s symptom expression?” asks Saulnier, who works directly with families by providing autism diagnoses to help reduce the backlog.

“We also examine profiles across races and ethnicities,” says Klaiman. Another joint project explored ways to help families gain traction despite delays in diagnosis. 

“As soon as parents are concerned, can we find a way to help? Is there anything we can do to address concerns? And even if there are wait lists for diagnosis, are there things they can do as they wait so they don’t feel helpless and worried?” asks Klaiman.

In a collaborative study funded by an Autism Centers of Excellence (ACE) genetics grant through the NIH, the two researchers spoke to families using an interview called the Diagnostic Odyssey. “We did lengthy interviews to try and understand barriers and formulate potential solutions,” says Klaiman. “Is it educating physicians, so you don’t get a wait-and-see answer? Is it providing more service support at younger ages? Or is it giving parents more information, so you don’t just get a pamphlet? What can be helpful to families?” 

Recently, Klaiman was funded by the SPARK Research Match, part of Simons Powering Autism, to transform the Diagnostic Odyssey interview into a questionnaire that will be available to more than 1,000 families who participated in the SPARK genetics study. “We can get a bit broader representation of the barriers across different races and ethnicities as well as ages and geographic spread,” says Klaiman, who oversees the research activities of the clinical research fellows at Marcus Autism Center.

Klaiman’s research also focuses on diagnosing autism in children at earlier ages, and she is excited about extending the eye-tracking biomarker technique in ongoing studies.

“My specific portion is thinking about the characterization and the phenotype (outward presentation) of the babies, from really young ages up until the possible time of diagnosis,” Klaiman says. “Are there underlying differences in their behavior as they develop through time that can help distinguish those who are ultimately diagnosed with autism and those who are not?”