Rendering of the Thompson Autism Center at CHOC

CHOC doctors lead study that helps garner FDA authorization for novel autism diagnostic device

Three CHOC doctors led a study that helped garner recent marketing authorization by the Food and Drug Administration (FDA) of a digital diagnosis aid that will help primary care doctors to make more informed diagnostic and care decisions for children with developmental concern, including the ability to rapidly and accurately rule out or diagnose autism.

The device will help primary care doctors to streamline the diagnostic journey, freeing up specialists to focus on children with complex presentations so that all children and families can receive the care they need sooner, one of the study’s leaders says.

Canvas Dx, developed by Cognoa, a pediatric behavioral health company based in Palo Alto, is a first-of-its-kind diagnostic aid that uses artificial intelligence to help primary care physicians make data-informed clinical decisions for children at risk of developmental delay, company officials said.

The FDA gave marketing authorization for the device in early June 2021.

“This device will help many kids get diagnosed earlier and filter out some who don’t have to be on a long waiting list to see a specialist, getting all kids on the right path to care sooner,” said Thompson Autism Center at CHOC clinical director Dr. Tom Megerian, a principal investigator of the study, the successful outcome of which was necessary for the device to gain FDA authorization.

An arduous process

Currently, pediatricians refer most children with suspected developmental delay to specialists to diagnose and prescribe treatment. This often results in children and families facing an arduous process, forcing families to wait months or even years before their child receives an initial diagnosis and can start life-changing therapy.

Canvas Dx is positioned to fundamentally change this reality by enabling primary care doctors to definitely rule out or diagnose ASD in many children and quickly identify those who require further specialist evaluation, thereby reducing wait times to diagnosis and allowing early interventions to begin during a critical neurodevelopmental window, Cognoa officials say. Early intervention has shown to improve lifelong outcomes for children and their families.

Dr. Sharief Taraman, the division chief of neurology at CHOC, led the development of CanvasDx as Cognoa’s chief medical officer. Other CHOC doctors participated in the pivotal study conducted at 14 sites in six states including Dr. Jonathan Romain, neuropsychologist, Dr. Marc Lerner, developmental pediatrician, and Dr. Sailaja Golla, pediatric neurologist.

Promising results

The trial involved 425 participants aged between 18 to 72 months whose caregivers or pediatricians had expressed concern about their development but who were never formally evaluated or diagnosed with autism.

The study results confirm the potential of Canvas Dx to guide rapid, accurate and consistent clinical decision-making for children at risk of developmental delay in general pediatric practices. The study found that 29% of participants had ASD, while 62% had non-ASD neurodevelopmental conditions. Nine percent of participants were found to be neurotypical.

Study results showed that Canvas Dx identified children with autism and without autism with high accuracy, demonstrating that Canvas Dx could make it possible for doctors to accurately diagnose at least 52% of children with autism in general pediatric practices so that they can then be confidently referred to ASD-specific early interventions. Currently, only 1% of children with autism are diagnosed by primary care doctors.

Canvas Dx also enables doctors to identify children with complex presentations so that they can be quickly triaged to specialists for further assessments. Based on study results, primary care doctors equipped to diagnose or rule out autism in their practices with Canvas Dx could overall reduce the need for referrals to ASD diagnostic specialists by at least 30%. 

“Compared to the current ASD diagnostic process,” the study concluded, “the device could allow for timelier initial evaluations, has the potential to address disparities that exist in time to diagnosis for minoritized children, and can be applied to a primary care setting, unlike existing diagnostic instruments which are likely to over diagnose if used in populations with lower ASD prevalence.”

According to the CDC, one in six children in the U.S. have one or more developmental disabilities or other developmental delays. Autism is an increasingly common neurodevelopmental condition that today affects one in every 54 children in the United States, a 178% increase in prevalence since 2000. While autism can be reliably diagnosed in children as early as 18 months, the average age of autism diagnosis has remained at 4 to 5 years old for decades.

Non-white children, females, and those from rural areas or disadvantaged socio-economic backgrounds are often diagnosed even later, or missed altogether. This reality means many children miss a critical neurodevelopmental window when early diagnosis and subsequent early interventions have the greatest opportunity to improve life-long outcomes.

How the device works

Canvas Dx is a digital diagnosis aid that collects and combines information from both caregivers and doctors. With an app, parents of young children with concern of developmental delay answer questions and upload two short videos of their child in their natural home environment.

The doctor also answers questions, and an algorithm then analyzes the data to come up with one of three outcomes: positive for autism, negative for autism, or undetermined. The undetermined output ensures the high accuracy of determinate results, reducing the risk of false classifications for complex instances and helping primary care doctors quickly identify those children with complex presentations who need further assessment by specialists.

The AI algorithm uses diverse datasets in terms of race, gender, educational level, and socioeconomic status, giving it the potential to help primary care physicians avoid biases and disparities existing in the current autism diagnostic process, Cognoa officials say.

“Canvas Dx will provide primary care physicians actionable information to better understand their patients’ neurodevelopmental picture, allowing pediatricians, who are frequently the primary point of contact for families, to respond to early developmental concerns,” said Dr. Colleen Kraft, former American Academy of Pediatrics president and current senior medical director of clinical adoption at Cognoa.

Learn more about the Thompson Autism Center at CHOC.