154
Views
10
CrossRef citations to date
0
Altmetric
Reviews

Targeted treatments in fragile X syndrome

, BA (Certified Clinical Research Coordinator) , , MD (Medical Director of the MIND Institute) & , MD
Pages 531-543 | Published online: 04 Apr 2014
 

Abstract

Introduction: Mouse models of fragile X syndrome (FXS), the most common cause of inherited intellectual disability, show decreased GABAergic input and overactive metabotropic glutamate receptor (mGluR) system, which result in an imbalance between excitatory (Glutamate) and inhibitory (GABA) systems in the brain. The cognitive, behavioral and neurological impairments require the development of targeted treatments that focus on regulating the mGluR and GABA pathways. The increasing literature on this topic and controversial results suggest the need for a comprehensive review of the literature and our expert opinion.

Areas covered: This article includes an extended review of the literature and comprehensive analysis of the current studies in humans and animal models with FXS.

Expert opinion: Our expert opinion is that these orphan drugs will help reduce, but not completely ameliorate, the behavioral phenotype of FXS through improved synaptic plasticity. Single-compound treatment may not be enough for the most affected individuals with FXS and although the orphan drugs may improve more generalized symptoms of FXS compared to symptom-based treatments, the most effective treatment response will require a multifaceted approach starting early in life using multiple pharmacological and behavioral interventions. More research is needed to assess how combinations of these medications, along with behavioral intervention and educational opportunities, will best reverse phenotypic features of FXS. The clinical trials of FXS are challenging, but offers hope for effective treatments for this syndrome and other related neurodevelopmental disorders, including autism.

Notes

This box summarizes key points contained in the article.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.