Fragile X Syndrome

Common Name(s)

Fragile X Syndrome, X-linked mental retardation and macro-orchidism

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.  This condition causes a range of developmental problems including learning disabilities and cognitive impairment.  It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.   Fragile X syndrome is caused by a change in the FMR1 gene. Fragile X syndrome is inherited in an X-linked dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fragile X Syndrome" for support, advocacy or research.

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Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

Last Updated: 1 Nov 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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FRAXA Research Foundation

Our mission is to support research aimed at finding specific treatments and a cure for Fragile X syndrome, the leading inherited cause of mental impairment.

Last Updated: 12 Dec 2012

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Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

Last Updated: 15 Apr 2014

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National Fragile X Foundation

The National Fragile X Foundation unites the Fragile X community to enrich lives through educational & emotional support, promote public & professional awareness, & advance research toward treatments & a cure for Fragile X.

Last Updated: 12 Dec 2012

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

Last Updated: 5 May 2014

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The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

Last Updated: 11 Apr 2013

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The Fragile X Society

To improve the quality of life of all those affected by fragile X syndrome by providing mutual support to fragile X families from those who share and understand their concerns and needs. To provide information to fragile X families about fragile X syndrome and the medical, social, educational and other services available to their children and relatives who are affected by fragile X. To educate and inform the public and professional people about the prevalence and nature of fragile X syndrome in order to raise awareness and understanding of the syndrome and improve the care of all individuals affected by fragile X. To encourage research into all aspects of fragile X through the participation of our family members in fragile X studies and to publicise the results.

Last Updated: 15 Feb 2013

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VOR-Speaking up for people with intellectual & developmental disabilities

VOR is a national organization advocating for high quality care and human rights for all people with intellectual and developmental disabilities.

Last Updated: 29 Apr 2014

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General Support Organizations

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How do you compare to others with this condition?

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fragile X Syndrome" for support, advocacy or research.

Logo
Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

http://www.thearc.org

Last Updated: 1 Nov 2012

View Details
Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
FRAXA Research Foundation

Our mission is to support research aimed at finding specific treatments and a cure for Fragile X syndrome, the leading inherited cause of mental impairment.

http://fraxa.org

Last Updated: 12 Dec 2012

View Details
Logo
Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

http://www.mofamilytofamily.org

Last Updated: 15 Apr 2014

View Details
National Fragile X Foundation

The National Fragile X Foundation unites the Fragile X community to enrich lives through educational & emotional support, promote public & professional awareness, & advance research toward treatments & a cure for Fragile X.

http://www.FragileX.org

Last Updated: 12 Dec 2012

View Details
Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

http://www.rachelswell.org/

Last Updated: 5 May 2014

View Details
The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

http://www.arceci.org

Last Updated: 11 Apr 2013

View Details
The Fragile X Society

To improve the quality of life of all those affected by fragile X syndrome by providing mutual support to fragile X families from those who share and understand their concerns and needs. To provide information to fragile X families about fragile X syndrome and the medical, social, educational and other services available to their children and relatives who are affected by fragile X. To educate and inform the public and professional people about the prevalence and nature of fragile X syndrome in order to raise awareness and understanding of the syndrome and improve the care of all individuals affected by fragile X. To encourage research into all aspects of fragile X through the participation of our family members in fragile X studies and to publicise the results.

http://www.fragilex.org.uk

Last Updated: 15 Feb 2013

View Details
VOR-Speaking up for people with intellectual & developmental disabilities

VOR is a national organization advocating for high quality care and human rights for all people with intellectual and developmental disabilities.

http://www.vor.net

Last Updated: 29 Apr 2014

View Details

 

General Support Organizations

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General Resources

Toolkit for Legislators, Policymakers, and Officials

Advocacy resources for legislators and policymakers re: to developmental disabilities, including autism, Resources relate to residential choice, federal laws, cost comparisons, quality of care and more.

Updated 29 Apr 2014

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VOR Press Kit

VOR's 2014 Press Kit, a collection of written materials designed to introduce VOR to the media and others, is now available. For more information, please contact Julie Huso, Executive Director at jhuso@vor.net.

Updated 29 Apr 2014

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Olmstead Resources

The Supreme Court, in its landmark Olmstead v. L.C.n decision, recognized the need for a range of services, based on individual choice and need, which respond to the varied and unique needs of the entire disability community.

Updated 29 Apr 2014

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Learn About VOR

VOR's Mission, Policy and Positions, and more. Learn more about the only national non-profit organization advocating for high quality care and human rights based on individual choice and need.

Updated 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fragile X Syndrome" returned 341 free, full-text research articles on human participants. First 3 results:

Homicide, fragile X syndrome, and mental retardation.
 

Author(s): Lisieux Elaine de Borba Telles, Pedro Henrique Iserhard Zoratto, Vivian Peres Day, Rafael Fabiano Machado Rosa

Journal: Rev Bras Psiquiatr. ;35(4):443-4.

 

Last Updated: 9 Jan 2014

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EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome.
 

Author(s): Frank Haessler, Franziska Gaese, Michael Colla, Michael Huss, Christoph Kretschmar, Marc Brinkman, Heike Schieb, Helmut Peters, Samuel Elstner, David Pittrow

Journal:

 

Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.

Last Updated: 23 Dec 2013

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Identifying large-scale brain networks in fragile X syndrome.
 

Author(s): Scott S Hall, Heidi Jiang, Allan L Reiss, Michael D Greicius

Journal: JAMA Psychiatry. 2013 Nov;70(11):1215-23.

 

Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. Until now, research has focused largely on identifying regional differences in brain structure and function between ...

Last Updated: 7 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fragile X Syndrome" returned 64 free, full-text review articles on human participants. First 3 results:

Newborn screening for fragile X syndrome.
 

Author(s): Flora Tassone

Journal: JAMA Neurol. 2014 Mar;71(3):355-9.

 

Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. Although in the ...

Last Updated: 11 Mar 2014

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Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome.
 

Author(s): Karen T Chang, Hyunah Ro, Wei Wang, Kyung-Tai Min

Journal: Trends Neurosci.. 2013 Dec;36(12):685-94.

 

Intellectual disability is characterized by significantly impaired cognitive abilities and is due to various etiological factors, including both genetic and non-genetic causes. Two of the most common genetic forms of intellectual disability are Fragile X syndrome (FXS) and Down syndrome ...

Last Updated: 6 Dec 2013

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Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
 

Author(s): Randi Hagerman, Paul Hagerman

Journal: Lancet Neurol. 2013 Aug;12(8):786-98.

 

Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, so-called premutation expansions (55-200 repeats) can cause ...

Last Updated: 22 Jul 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 May 2014

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Last Updated: 10 Jul 2014

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Trial of Sertraline to Treat Children With Fragile X Syndrome
 

Status: Recruiting

Condition Summary: Fragile X Syndrome

 

Last Updated: 5 Apr 2013

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