According to the NIH, Fragile X Syndrome is the most common form of inherited intellectual disability in males; however, both males and females are affected. Due to changes in the X chromosome, specifically a mutation in the FMR1 gene, Fragile X Syndrome (FXS) develops. Some of the major symptoms seen in FXS patients are anxiety, attention deficits, and trouble interacting with others. In "Neural correlates of face processing in etiologically-distinct 12-month-old infants at high-risk of autism spectrum disorder," Dr. Maggie Guy further explores these symptoms as they are seen in children, specifically how the mechanisms of facial recognition are impacted by the disease in the early stages of life. In her study, among the groups tested – infants with high risk for FXS, low-risk controls, and infants with a high risk for autism spectrum disorder – it was found that each group of infants responded more to the presentation of faces rather than objects. However, the findings were further narrowed down until it was determined that the infants with FXS reacted more to familiar faces, while the low-risk controls reacted more to unfamiliar faces. As Dr. Guy attempts to distinguish between the different groups at a high risk for autism spectrum disorders (ASD), the results found also are meant to support the notion that those with ASD experience social anxiety when interacting with new faces.
In an effort to explore treatments for the symptoms of social discomfort seen in those with FXS, a recent clinical research study from Rush University Medical Center has found that an experimental drug, mavoglurant (an mGluR5 negative modulator), can improve the characteristic gaze avoidance behavior and the reactivity to faces in those with FXS. Dr. David Hessl from the MIND Institute notes that the prevalence of social anxiety in patients with FXS can be documented by monitoring their gaze with an eye tracker. Gaze tracking in these patients will jump around and characteristically avoid the eye area of the face presented, opposite of the patterns seen in those without FXS. Throughout the research experiment, gaze pattern data was collected from 57 patients with FXS. It is also important to note that the participants were between 12 and 45 years old, so they represent many different age groups in comparison to Dr. Guy's solely infant population. Participants either received a specific dose of mavoglurant, or a placebo. After experimentation, it was found that those treated with mavoglurant showed decreased gaze avoidance, and increased pupil dilation when human faces were presented to them. In other words, they did not shy away from unfamiliar faces, and mavoglurant seemed to have lessened a portion of the anxiety-induced actions that increase in those with FXS in social settings. If this is the case, then it could be expected that mavoglurant might increase the reaction to unfamiliar faces in FXS infants, since unfamiliarity is associated with social anxiety here. With these experimental results in mind, then it is also possible that the facial recognition results for unfamiliar faces (FXS group) in Dr. Guy's research would not be as low if the infant was treated with mavoglurant.
Currently, there is no approved and available treatment for FXS; however, both articles reveal that strides are being made at first attempting to understand the cognitive processing that occurs as a result of the disease early on, as seen in Dr. Guy's research, and later, the possible treatments that can address the differences in facial processing and anxiety-induced behavior. Although mavoglurant is still being further tested, the results seen in Dr. Hessl's experiment and the Rush research lab have optimistically revealed this experimental drug to be a possible treatment for FXS patients in the future.
References
First clinical study shows mavoglurant improves eye gaze behavior in fragile X
syndrome patients (2019, January 17) retrieved 29 April 2020 from
Fragile X syndrome. (2016, May 12). Retrieved April 29, 2020, from
https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome
Guy, M. W., Richards, J. E., Tonnsen, B. L., & Roberts, J. E. (2018). Neural
correlates of face processing in etiologically-distinct 12-month-old infants at
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