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MDLinxAI is Diagnosing Autism Spectrum Disorder. Here’s How—and What—the Experts Say

Retinal Analysis in Autism Spectrum Disorder: Unveiling a Potential Biomarker and Broadening Understanding of Neurodevelopmental Conditions


A recent study in the Journal of the American Medical Association reveals a groundbreaking use of artificial intelligence (AI) in the diagnosis of autism spectrum disorder (ASD) through retinal photography analysis. This innovative approach may not only streamline the diagnostic process but also provides fresh insights into the neurobiological underpinnings of ASD. Such developments hold the potential to enhance both the speed and accuracy of diagnoses in clinical settings, while respecting the complexity and individuality of ASD presentations.

Key Points:

  • AI, through deep learning algorithms, has been shown to distinguish between individuals with ASD and typical development (TD) by analyzing retinal photographs.
  • The study involved 1,890 eyes from 958 participants, with an equal division between those with ASD and TD.
  • Structural retinal changes in individuals with ASD, believed to reflect brain alterations and visual pathway abnormalities, are central to this diagnostic approach.
  • The AI model achieved a mean area under the receiver operating characteristic curve (AUROC) of 1.00, indicating high accuracy in identifying ASD.
  • The study highlights the optic disc as a critical region for distinguishing between ASD and TD.
  • Experts emphasize the potential of AI in enhancing autism diagnosis, but advocate for its use as a supplementary tool, not a replacement for clinical expertise and judgment.
  • AI applications in autism diagnosis, such as the Cognoa’s Canvas Dx and EarliPoint, are already in use, indicating a growing trend in integrating technology with healthcare.
  • The study’s findings also offer new perspectives on the biological aspects of autism, contributing to a better understanding of the condition.

Early results indicate improved patient outcomes with AI assistance. [But]…even if AI reaches high levels of sensitivity and specificity in diagnosis, it should not overshadow the value of clinical experience.

Ryan Sultan, MD
Board-certified Psychiatrist


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