At the recent American Academy of Neurology (AAN) 2022 Annual Meeting, data from a pivotal trial of Cognoa’s Canvas Dx was presented that demonstrated how using artificial intelligence (AI) can aid in the early diagnosis of patients with autism spectrum disorder (ASD).

GlobalData, a leading data and analytics company, believes that while this novel AI-based technology, approved by the Food and Drug Administration (FDA) in 2021, could aid in earlier diagnosis of ASD, allowing for earlier interventions and improved quality of life, limitations remain. In light of National Autism Awareness Month, further research and development into continuing to improve the early diagnosis of ASD, via a variety of methodologies, remains important.

Philippa Salter, Neurology Analyst at GlobalData, comments: “Despite the high prevalence of ASD, challenges remain concerning its diagnosis, particularly diagnosis in very young children. Early interventions for people with ASD can help with the development of communication, social, and learning abilities, and even with motor skills, vastly improving the patient’s long-term outcome and quality of life. Thus, this places high importance on early diagnosis.”

In Cognoa’s pivotal, double-blind study, Canvas Dx produced a positive or negative output with high accuracy compared to a specialist diagnosis using the DSM-V criteria, with a positive predictive value of 80.8% and a negative predictive value of 98.3%.

Salter continues: “The ability of Canvas Dx to aid in the accurate diagnosis of ASD in a primary care setting is important as it could potentially reduce the need for time-consuming referrals to specialists for diagnosis. Not only would this result in earlier diagnosis, it would also allow for more efficient use of specialist resources. However, despite the impressive predictive values, particularly the negative predictive value indicating very few false negatives, most of the participants (68.2%) received an indeterminate outcome and would therefore require further specialist diagnosis, potentially limiting the usefulness of Canvas Dx.”

Additionally, the study found that patient assessment by a physician either in person or remotely did not affect the results, making this technology applicable for remote use giving it further potential to increase diagnosis of ASD by removing some of the barriers for diagnosis. However, it should be noted that only 13.9% of the physician interviews were carried out remotely.

Salter adds: “Given the importance of early diagnosis there are a variety of other technologies being developed to aid in the diagnosis of ASD. For example, EarliTec Diagnostics is developing a device to capture moment-by-moment looking behavior, an indicator of a neurodevelopmental disability, to aid in diagnosing children aged 16 months to 30 months. Additionally, there is a large amount of research into genetic testing for diagnosing ASD, as well as the development of new and improved early screening tools and questionnaires.

“Ultimately, it is likely that a combination of different techniques and technologies will be necessary for improving early diagnosis of ASD, rather than relying on one specific method.”