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Updated: Oct 2, 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 Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Fragile X Syndrome: From Molecular Aspect to Clinical Treatment

Dragana D Protic1, Ramkumar Aishworiya2,3, Maria Jimena Salcedo-Arellano2,4,5

  • 1Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11129 Belgrade, Serbia.

International Journal of Molecular Sciences
|February 26, 2022
PubMed

Insights

Early diagnosis and intervention are key for Fragile X syndrome (FXS), a genetic neurodevelopmental disorder. Combining non-pharmacological approaches with targeted therapies improves behavioral symptoms and outcomes.

Area of Science:

  • Genetics and Neurodevelopmental Disorders
  • Clinical Interventions in Pediatrics
  • Fragile X Syndrome Research

Background:

  • Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder linked to the FMR1 gene.
  • FXS often presents with co-occurring conditions like Autism Spectrum Disorder and behavioral issues.
  • Early interventions have shown promise in managing FXS-related behavioral symptoms.

Purpose of the Study:

  • To review the clinical interventions for Fragile X syndrome.
  • To emphasize the importance of early diagnosis and treatment strategies.
  • To provide an overview of current and emerging therapeutic approaches for FXS.

Main Methods:

  • Literature search of MEDLINE (1990-2021) and ClinicalTrials.gov.
  • Inclusion of original articles, review articles, clinical trial data, and book chapters.
  • Focus on clinical interventions, alongside biological importance, phenotype, and diagnosis.

Main Results:

  • Current mainstream treatment involves early non-pharmacological interventions combined with pharmacotherapy.
  • Targeted treatments aim to correct dysregulated brain pathways in FXS.
  • Early diagnosis and intervention are crucial for optimal clinical outcomes.

Conclusions:

  • Early diagnosis and comprehensive interventions are fundamental for managing FXS.
  • A combination of non-pharmacological, pharmacological, and targeted therapies offers the most effective treatment approach.
  • Continued research into interventions is vital for improving the lives of individuals with FXS.

Keywords:
FMR1 geneFMRPautism spectrum disorderbehavior problemsfragile X syndrome

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