What Angelman Syndrome Researchers Can Tell by Looking at Your Eyes

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Are eyes really the window to the soul? A recent study shows that they’re are, at least, a window into Angelman syndrome.

Angelman syndrome (AS) is a neuro-genetic condition. It’s often mistaken for autism or cerebral palsy. It’s caused by chromosome 15, which can either be damaged or missing. It leads to developmental delays, seizure, neurological problems, and delayed or absent speech. Many patients laugh frequently and have an happy, excited attitude. To learn more about AS, click here.

Eye-tracking is an interesting area of research. Researchers analyze and measure things like pupil dilation or eye movement. Scientists can gain useful behavioral data, without making a patient uncomfortable the way a more invasive procedure might. Since many individuals with AS have trouble communicating, this can provide us with insight.

Researchers from Cincinnati Children’s Hospital Medical Center, the University of Cincinnati College of Medicine, and the Indiana University School of Medicine collaborated on this recent study.

They were inspired by famous studies covering Autism spectrum disorder (ASD), which AS is often confused with. Scientists had tracked patients’ eyes and found that the participants with ASD preferred to look at geometric patterns over social interactions. On the other hand participants without ASD were the other way around. There’s evidence eye-tracking might actually be able to predict Autism spectrum disorder before a person is diagnosed.

This new study recruited 17 patients with AS. However, only 8 completed the eye-tracking paradigm. Each of these participants also had a control participant, who shared the same age and gender but did not have ASD. The participants watched alternating videos clips of social interaction and geometric patterns. The researchers analyzed the eye-tracking results, and found that participants with ASD were less interested in social images, and more interested in geometric ones. They measured this through viewing time and pupil dilation.

The data showed a striking similarity between the eye behavior of people with AS and ASD. There are unresolved questions in the scientific community about the relationship between the two conditions. Despite these findings, patients with AS typically show a great interest in social interaction. This may mean that the results don’t reflect a lack of social interest, but rather a visual processing impairment. Visual processing imparments common in people with all sorts of neurological disorders and learning disabilities.

Researchers would need to conduct more studies to know whether or not eye-tracking could be predictive for AS, the way it is for ASD. More studies could also help standardize this data. One of the biggest take-aways researchers got out of this was that eye-tracking is both a feasible and non-invasive way to measure AS behavior, which can lead the way to more personalized treatment.


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