By David Happel

This article was originally published in Autism Parenting Magazine, Issue 118.

Nearly 80 years after psychiatrist Leo Kanner became the first physician to use the term “autism”, children and families with autism still face critical gaps and unnecessary delays on their way to a diagnosis.

Rather than diagnosing children themselves, pediatricians typically refer children with suspected developmental delays to specialists—setting off what is often a long and arduous path toward diagnosis—a necessary first step to receiving treatment. In most cases, initial parental concerns are expressed at around 14 months old, however, the average age of autism diagnosis has remained unchanged at 4.3 years of age for over 15 years. In the current system, families often experience long specialist waitlists for diagnoses resulting in precious treatment time being lost—potentially impacting the child’s developmental progress and making it more difficult to achieve optimal long-term outcomes. Further complicating a timely diagnosis, significant disparities exist when it comes to autism diagnosis for girls and ethnic and racial minorities. On average girls are diagnosed 1.5 years later than boys while one in four children under age eight living with autism (most of them Black or Hispanic) are not being diagnosed at all.

Cognoa’s Autism Diagnostic aims to change this reality. Soon to be submitted for approval by the U.S. Food and Drug Administration (FDA), the AI-powered device is specifically designed for use by pediatricians—enabling accurate diagnoses in the primary care setting to enable early intervention. Cognoa’s mission? A transformative approach to autism care to improve lifelong outcomes for children and their families by enabling equitable access to early intervention.

A new model for autism diagnosis

As research published by the American Academy of Pediatrics (AAP) notes, pediatricians “can significantly affect the outcome of children with autism by making an early diagnosis and providing referral for evidenced-based behavioral treatment.” Serving as the first line of care for the one in 54 American children affected by autism, pediatricians are perfectly positioned to assess and diagnose potential cases. Making it easier for pediatricians to diagnose autism could slash the months—or even years-long delays that many families experience waiting for a diagnosis.

Autism-specific early intervention—defined as the initial onset of treatment before the age of six—can be a game changer for children and their families, with children who receive early diagnosis and treatment experiencing twice the cognitive gains of children who do not. Children diagnosed and treated earlier in life are also more likely to integrate into mainstream schools. Simply put, when physicians are empowered to act during critical neurodevelopmental windows, children have the opportunity to receive better, more effective care.

Augmenting the role of the specialist

Where does this leave the specialist? Rather than referring the majority of children with suspected behavioral health concerns to specialists for assessment, pediatricians can begin to rule out or diagnose autism, removing the easier-to-diagnose children from specialist caseloads. Relieved of these bottlenecks, specialists can train their focus on more complex, harder-to-diagnose cases. This will accelerate and streamline the autism diagnostic journey—to the benefit of children with autism, their families, pediatricians, and specialists alike.

Cognoa’s Autism Diagnostic

Where does Cognoa’s autism diagnostic solution fit into this picture?

Cognoa recently announced that it would be submitting its solution for FDA approval following the results of a pivotal study that surpassed all targeted benchmarks. The solution is now on course to be the first FDA-cleared digital solution for pediatricians to diagnose autism.

The study, which ran from July 2019 through June2020, examined 425 U.S. children aged between 18 months and 72 months, evaluated the ability of the diagnostic device to aid in the diagnosis of autism by comparing its diagnostic output with the clinical reference standard, a diagnosis made by a specialist clinician, based on DSM-5 criteria and validated by one or more reviewing specialist clinicians.

Harnessing AI technology to evaluate a range of data points questionnaires filled out by pediatricians and caregivers, analysis of video of children in their natural environment – the device was shown to be highly accurate. Built to embrace gender, racial, ethnic and socio-economic diversity, Cognoa’s algorithms are not restricted by the inherent biases in the current system and the device demonstrates accuracy across population groups.

With its imminent submission to the FDA, Cognoa’s diagnostic device is one step closer to transforming the standard of care for children with autism. Earlier diagnosis, more seamless coordination in the healthcare system, and a commitment to improving equitable access to care will all be needed to make progress, and if cleared, Cognoa’s device will mark a key milestone in this journey

David Happel is the President and CEO of Cognoa, the leading pediatric behavioral health company developing diagnostic and therapeutic solutions to improve the lives and outcomes of children and families living with behavioral conditions. Prior to joining Cognoa, Happel served as President, CEO, and Director at Chrono Therapeutics, a biopharmaceutical company focused on treatments for neurologically debilitating conditions. He also previously served in senior roles at Horizon Therapeutics, Raptor Pharma and Allergen Research Corporation. With over 25 years’ industry experience, Happel has an extensive track record of improving clinical and commercial outcomes for cutting-edge health-tech companies.