Rett syndrome

Common Name(s)

Rett syndrome

Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. It affects females almost exclusively.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rett syndrome" for support, advocacy or research.

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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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International Foundation for CDKL5 Research

To lead the way in finding a cure and treatments for CDKL5 disorder by funding global research efforts and increasing awareness while enhancing the quality of life for those affected by CDKL5 disorder, by providing information, programs, and services.

Last Updated: 19 Feb 2013

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International Rett Syndrome Foundation

The core mission of the IRSF is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs, and services.

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rett syndrome" for support, advocacy or research.

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

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International Foundation for CDKL5 Research

To lead the way in finding a cure and treatments for CDKL5 disorder by funding global research efforts and increasing awareness while enhancing the quality of life for those affected by CDKL5 disorder, by providing information, programs, and services.

http://www.CDKL5.com

Last Updated: 19 Feb 2013

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International Rett Syndrome Foundation

The core mission of the IRSF is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs, and services.

http://www.rettsyndrome.org

Last Updated: 19 Mar 2013

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General Resources

News and Media Center at IRSF

Current IRSF communications: IRSF General and Research Flash Rett Gazette Newsletters

Updated 18 Mar 2013

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Rett Syndrome Handbook

Rett Syndrome Handbook, 2nd edition.

Updated 18 Mar 2013

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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 "Rett syndrome" returned 178 free, full-text research articles on human participants. First 3 results:

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
 

Author(s): J T Plummer, O V Evgrafov, M Y Bergman, M Friez, C A Haiman, P Levitt, K A Aldinger

Journal:

 

Single nucleotide variants (SNV) in the gene encoding the MET receptor tyrosine kinase have been associated with an increased risk for autism spectrum disorders (ASD). The MET promoter SNV rs1858830 C 'low activity' allele is enriched in ASD, associated with reduced protein expression, ...

Last Updated: 23 Oct 2013

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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.
 

Author(s): Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla

Journal:

 

Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models. In these models, animals show deficits in brain-derived ...

Last Updated: 29 Jul 2013

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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
 

Author(s): Taimoor I Sheikh, Kirti Mittal, Mary J Willis, John B Vincent

Journal:

 

Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype.

Last Updated: 31 Jul 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 "Rett syndrome" returned 48 free, full-text review articles on human participants. First 3 results:

Isoprostanes and 4-hydroxy-2-nonenal: markers or mediators of disease? Focus on Rett syndrome as a model of autism spectrum disorder.
 

Author(s): Cinzia Signorini, Claudio De Felice, Thierry Durand, Camille Oger, Jean-Marie Galano, Silvia Leoncini, Alessandra Pecorelli, Giuseppe Valacchi, Lucia Ciccoli, Joussef Hayek

Journal: Oxid Med Cell Longev. 2013 ;2013():343824.

 

Lipid peroxidation, a process known to induce oxidative damage to key cellular components, has been implicated in several diseases. Following three decades of explorations mainly on in vitro models reproducible in the laboratories, lipid peroxidation has become increasingly relevant ...

Last Updated: 11 Jul 2013

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Breathing challenges in Rett syndrome: lessons learned from humans and animal models.
 

Author(s): Jan-Marino Ramirez, Christopher Scott Ward, Jeffrey Lorenz Neul

Journal: Respir Physiol Neurobiol. 2013 Nov;189(2):280-7.

 

Breathing disturbances are a major challenge in Rett Syndrome (RTT). These disturbances are more pronounced during wakefulness; but irregular breathing occurs also during sleep. During the day patients can exhibit alternating bouts of hypoventilation and irregular hyperventilation. ...

Last Updated: 28 Oct 2013

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Investigation of Rett syndrome using pluripotent stem cells.
 

Author(s): Rana Dajani, Sung-Eun Koo, Gareth J Sullivan, In-Hyun Park

Journal: J. Cell. Biochem.. 2013 Nov;114(11):2446-53.

 

Rett syndrome (RTT) is one of most prevalent female neurodevelopmental disorders. De novo mutations in X-linked MECP2 are mostly responsible for RTT. Since the identification of MeCP2 as the underlying cause of RTT, murine models have contributed to understanding the pathophysiology ...

Last Updated: 13 Sep 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 29 May 2014

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Last Updated: 24 Feb 2014

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Last Updated: 3 Feb 2014

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