Rett syndrome

Common Name(s)

Rett syndrome

Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 26 Feb 2015

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Rett Syndrome Research Trust

The Rett Syndrome Research Trust (RSRT) is a non-profit organization with a highly personal and urgent mission: a cure for Rett Syndrome and related MECP2 disorders.

Last Updated: 26 Feb 2015

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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 26 Feb 2015

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Rett Syndrome Research Trust

The Rett Syndrome Research Trust (RSRT) is a non-profit organization with a highly personal and urgent mission: a cure for Rett Syndrome and related MECP2 disorders.

http://www.rsrt.org/

Last Updated: 26 Feb 2015

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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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General Support Organizations

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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 282 free, full-text research articles on human participants. First 3 results:

Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress.
 

Author(s): Dejian Zhao, Ryan Mokhtari, Erika Pedrosa, Rayna Birnbaum, Deyou Zheng, Herbert M Lachman

Journal:

 

Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical development. It is usually due to de novo loss of function mutations in the X-linked ...

Last Updated: 3 Apr 2017

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Rett Syndrome: A Focus on Gut Microbiota.
 

Author(s): Elisa Borghi, Francesca Borgo, Marco Severgnini, Miriam Nella Savini, Maria Cristina Casiraghi, Aglaia Vignoli

Journal:

 

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. ...

Last Updated: 8 Feb 2017

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Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome.
 

Author(s): Shih-Jen Tsai

Journal:

 

Rett syndrome (RTT) is a severe neurodevelopmental disorder occurring almost exclusively in females and is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) in the majority of cases. MeCP2 is essential for the normal function of nerve cells, ...

Last Updated: 27 Oct 2016

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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 57 free, full-text review articles on human participants. First 3 results:

Developmental Dynamics of Rett Syndrome.
 

Author(s): Danielle Feldman, Abhishek Banerjee, Mriganka Sur

Journal: Neural Plast.. 2016 ;2016():6154080.

 

Rett Syndrome was long considered to be simply a disorder of postnatal development, with phenotypes that manifest only late in development and into adulthood. A variety of recent evidence demonstrates that the phenotypes of Rett Syndrome are present at the earliest stages of brain ...

Last Updated: 4 Mar 2016

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Rett Syndrome: Crossing the Threshold to Clinical Translation.
 

Author(s): David M Katz, Adrian Bird, Monica Coenraads, Steven J Gray, Debashish U Menon, Benjamin D Philpot, Daniel C Tarquinio

Journal: Trends Neurosci.. 2016 Feb;39(2):100-13.

 

Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for ...

Last Updated: 2 Feb 2016

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[Molecular basis of Rett syndrome: A current look].
 

Author(s): Gretta PantaleĆ³n F, Tamara Juvier R

Journal: Rev Chil Pediatr. ;86(3):142-51.

 

Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated ...

Last Updated: 25 Aug 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
 

Status: Not yet recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 16 Feb 2017

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Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe)
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 20 Jun 2017

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The Findings of MR Imaging in Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 12 Sep 2016

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