Fragile X syndrome medical therapy: Difference between revisions

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== Treatment and current research ==
== Treatment and current research ==


Recent studies have focused on a number of critical areas.  The role of FMRP's RNA partners, many of which have now been validated through [[in vitro]] assays, is of primary importance.  Also being examined is the function the various domains of FMRP, an [[RNA-binding protein]], which is still relatively unknown. One hypothesis is that many symptoms are caused by unchecked activation of [[Metabotropic glutamate receptor 5|mGluR5]], a [[metabotropic glutamate receptor]], which was found in a 2007 study to contribute significantly to the pathogenesis of the disease;<ref>{{cite journal |journal=Neuron |date=2007 |volume=56 |issue=6 |pages=955–62 |title= Correction of fragile X syndrome in mice |author= Dölen G, Osterweil E, Rao BS ''et al.'' |doi=10.1016/j.neuron.2007.12.001 |pmid=18093519}}</ref> this suggests that mGluR5 blockers could be used to treat fragile X syndrome.<ref>{{cite news |author= Highfield R |title= Fragile X study offers hope for autism treatment |work= Daily Telegraph |date=2007-12-19 |accessdate=2007-12-22 |url=http://www.telegraph.co.uk/earth/main.jhtml?xml=/earth/2007/12/19/sciaut119.xml}}</ref>


While there is no current cure for the syndrome, there is hope that further understanding of its underlying causes would lead to new therapies.  Currently, the syndrome can be treated through [[behavioral therapy]], [[special education]], medication, and when necessary, treatment of physical abnormalities.  Persons with the fragile X syndrome in their family histories are advised to seek [[genetic counseling]] to assess the likelihood of having children who are affected, and how severe any impairments may be in affected descendants.


Researchers at the Picower Institute for Learning and Memory at MIT have reversed symptoms of mental retardation and autism in mice.<ref>[http://www.eurekalert.org/pub_releases/2007-06/miot-mrr062507.php MIT researchers reverse symptoms in mice of leading inherited cause of mental retardation]</ref>
While there is no current cure for the syndrome, there are several studies and researches going on for development of new therapies. Currently, the syndrome are treated with multi disciplinary approach which includes [[behavioral therapy]], [[special education]], medication, and physical rehabilitation. Persons with family histories of fragile x syndrome are advised to seek [[genetic counseling]] to assess the likelihood of having children who are affected.


== References ==
== References ==

Revision as of 20:32, 3 September 2021


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

There is no specific treatment for Fragile X syndrome. There are some medication under trial such as fenobam (mGLUR5 antagonist) and Lithium (mGLUR5 signaling inhibitor). Effort is directed toward training and education so that affected children can function at as high a level as is possible. Because the condition is not rare, specific educational approaches have been developed and tested.

Treatment and current research

While there is no current cure for the syndrome, there are several studies and researches going on for development of new therapies. Currently, the syndrome are treated with multi disciplinary approach which includes behavioral therapy, special education, medication, and physical rehabilitation. Persons with family histories of fragile x syndrome are advised to seek genetic counseling to assess the likelihood of having children who are affected.

References

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