Abstract
Background
Children and adolescents with fragile X syndrome (FXS) manifest significant symptoms
of anxiety, particularly in response to face-to-face social interaction. In this study,
we used functional near-infrared spectroscopy to reveal a specific pattern of brain
activation and habituation in response to face stimuli in young girls with FXS, an
important but understudied clinical population.
Methods
Participants were 32 girls with FXS (age: 11.8 ± 2.9 years) and a control group of
28 girls without FXS (age: 10.5 ± 2.3 years) matched for age, general cognitive function,
and autism symptoms. Functional near-infrared spectroscopy was used to assess brain
activation during a face habituation task including repeated upright/inverted faces
and greeble (nonface) objects.
Results
Compared with the control group, girls with FXS showed significant hyperactivation
in the frontopolar and dorsal lateral prefrontal cortices in response to all face
stimuli (upright + inverted). Lack of neural habituation (and significant sensitization)
was also observed in the FXS group in the frontopolar cortex in response to upright
face stimuli. Finally, aberrant frontopolar sensitization in response to upright faces
in girls with FXS was significantly correlated with notable cognitive-behavioral and
social-emotional outcomes relevant to this condition, including executive function,
autism symptoms, depression, and anxiety.
Conclusions
These findings strongly support a hypothesis of neural hyperactivation and accentuated
sensitization during face processing in FXS, a phenomenon that could be developed
as a biomarker end point for improving treatment trial evaluation in girls with this
condition.
Keywords
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Article info
Publication history
Published online: September 20, 2021
Accepted:
September 7,
2021
Received in revised form:
September 2,
2021
Received:
June 15,
2021
Identification
Copyright
© 2021 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
