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Translational Biomarkers in Fragile X Syndrome: A New Perspective for Practitioners

Translational Biomarkers in Fragile X Syndrome: A New Perspective for Practitioners

Introduction

Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder characterized by sensory processing deficits, among other symptoms. Recent research highlights the potential of using electroretinography (ERG) and contrast sensitivity (CS) as biomarkers for sensory deficits in individuals with FXS. This blog explores how practitioners can leverage these findings to improve therapeutic outcomes and encourages further research in this promising area.

Understanding the Research

The study titled "Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome" investigates the feasibility of using ERG and CS as biomarkers for sensory deficits in FXS. Conducted on both Fmr1?/y mice and human subjects, the research demonstrates that these methods can successfully identify sensory abnormalities in the visual system, providing a translational bridge from animal models to human applications.

Key Findings

Implications for Practitioners

For practitioners, these findings underscore the importance of incorporating objective sensory assessments into clinical practice. By utilizing ERG and CS, clinicians can gain a deeper understanding of the sensory processing challenges faced by individuals with FXS, allowing for more personalized and effective interventions. Moreover, these biomarkers could serve as valuable tools in monitoring treatment progress and efficacy.

Encouraging Further Research

While the current study provides a strong foundation, further research is essential to fully realize the potential of ERG and CS as clinical tools. Practitioners are encouraged to engage in collaborative research efforts to refine these biomarkers and explore their applications across different neurodevelopmental disorders.

Conclusion

The integration of ERG and CS as biomarkers in the assessment of FXS offers a promising avenue for improving therapeutic outcomes. By embracing these data-driven approaches, practitioners can enhance their understanding of sensory deficits and contribute to the development of targeted treatments. For those interested in delving deeper into the research, the original paper can be accessed here.


Citation: Perche, O., Lesne, F., Patat, A., Raab, S., Twyman, R., & Ring, R. H. (2021). Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome. Journal of Neurodevelopmental Disorders. https://doi.org/10.1186/s11689-021-09375-0
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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