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Related Experiment Video

Updated: Nov 16, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Unique Visual Attention Profile Associated With the FMR1 Premutation.

Molly Winston1, Kritika Nayar1, Emily Landau1

  • 1Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, United States.

Frontiers in Genetics
|February 26, 2021
PubMed
Summary

Fragile X premutation (PM) carriers show unique visual attention patterns, including increased mouth focus and decreased attention to salient social cues. These patterns may serve as biomarkers, distinguishing PM carriers from autism spectrum disorder (ASD) parents and controls.

Keywords:
autism spectrum disordereye trackingfragile X mental retardation genefragile X syndromepragmatic languagesocial cognition

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychology

Background:

  • Atypical visual attention is observed in fragile X mental retardation gene (FMR1) premutation (PM) carriers, with some overlap with autism spectrum disorder (ASD).
  • Visual attention patterns may serve as biomarkers for the neurocognitive profile of PM carriers, potentially crossing diagnostic boundaries.

Purpose of the Study:

  • To investigate potentially overlapping visual attention profiles between FMR1 PM carriers, ASD parents, and parent controls using eye-tracking.
  • To determine if a distinct visual attention profile can predict group membership in PM carriers.

Main Methods:

  • Eye-tracking data from three tasks were analyzed for fixation patterns in 65 female FMR1 PM carriers, 188 ASD parents, and 84 parent controls.
  • Logistic regression was used to assess the predictive power of specific visual attention variables for group differentiation.

Main Results:

  • FMR1 PM carriers exhibited a distinct visual attention pattern: increased mouth fixation, heightened focus on bodies in complex scenes, and decreased attention to salient social cues during a narrative task.
  • This pattern effectively differentiated PM carriers from controls (Accuracy=0.77) and ASD parents (Accuracy=0.72), but showed less distinction between ASD parents and controls (Accuracy=0.62).
  • Mouth fixation uniquely identified PM carriers across both comparison groups, while other social attention patterns showed overlap between PM carriers and ASD parents, suggesting shared neurobiological mechanisms.

Conclusions:

  • A unique visual attention profile is strongly associated with FMR1 PM in women, potentially serving as a meaningful biomarker.
  • The findings highlight specific visual attention differences and overlaps between FMR1 PM and ASD, informing neurocognitive profiles and potential shared mechanisms.