FDA approves new autism diagnostic aid

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition characterized by difficulty with social interaction and communication, as well as restrictive and repetitive patterns of behavior. It is a common disorder, diagnosed in about one in 54 children. ASD is usually diagnosed by a clinician with expertise in the field such as a developmental pediatrician, child neurologist, or psychiatrist. The diagnostic process often involves lengthy clinical assessments or standardized testing batteries that take several hours to administer. Therefore, wait times for an ASD evaluation can be very long.

While symptoms of ASD may appear as early as 18 months, and diagnosis can be made reliably by age 2, many children do not receive the diagnosis of ASD until much later, resulting in treatment delays during a critical developmental period. A timely diagnosis is extremely important because it is needed to receive appropriate early intensive intervention services, which are more successful if started during the early developmental period. The complex referral and evaluation process accentuates healthcare inequities, with delays to diagnosis being largest in children who are nonwhite, female, live in rural areas, or have low socioeconomic status.

New tool is approved for aiding diagnosis

To address these challenges, a team of researchers has been developing technologies aimed at making an ASD evaluation simpler and more accessible. The FDA recently approved a newly developed device for this purpose. This diagnostic aid device is intended for use in primary care settings, along with a clinical assessment, to help establish a diagnosis of ASD in children ages 18 months to 5 years who show symptoms that may be ASD. The idea behind the device is to target the most important portions of an autism evaluation and to condense them into a much shorter form.

How does this diagnostic tool work?

There are three components to the evaluation. First, parents or other caregivers answer a brief app-based questionnaire. Second, families upload short videos of their child during play or mealtimes, which are reviewed by video analysts for signs of ASD. Third, medical providers answer a small set of questions within a database. An algorithm compiles the information gathered from those three sections and provides a result of either "ASD," "no ASD," or "indeterminate."

Preliminary data on 425 research participants who used the device was presented at the Pediatric Academic Societies meeting earlier this year. Children were evaluated using the device, and also by a group of autism specialists. The device indicated a diagnosis of ASD or no ASD in just under one-third of patients, while the majority of patients received an indeterminate result. If the device determined that a child had ASD, it was correct in about eight out of 10 children. If the device determined that a child did not have ASD, it was almost always correct.

Most of the patients with an indeterminate result had various forms of developmental delays that were more difficult to determine, including ASD and other neurodevelopmental disabilities. The data has not yet been published, but was provided to the FDA for review during the approval process.

How will this device help young patients and families?

Overall, the Canvas Dx device may prove to be a very useful tool in the primary care setting, to expedite an ASD diagnosis in some children who exhibit worrisome symptoms, and to accurately identify those who are unlikely to have ASD. This may help accelerate and streamline the process of diagnosing ASD, and could limit long waits for specialized evaluations. While the preliminary data suggests that there are high rates of indeterminate results, particularly in children with complex neurodevelopmental presentations, primary care providers will be prompted to pursue further neurodevelopmental evaluation for those children.

It is important to note that the device does not stand alone, but should be part of a clinical assessment by the primary care team utilizing the criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Specialist referrals will still be important to provide long-term neurodevelopmental care. Advocacy to ensure that ASD diagnoses made using the device are recognized by insurance companies, education systems, and treatment agencies may be needed. Overall, there is hope that a device such as this may help children with ASD to be diagnosed, and to receive appropriate interventions as early as possible to optimize their development.