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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How do you compare to others with this condition?

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

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
 

Author(s): Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu

Journal:

 

We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).

Last Updated: 30 Aug 2017

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Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys.
 

Author(s): Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun

Journal: Cell. 2017 May;169(5):945-955.e10.

 

Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), ...

Last Updated: 19 May 2017

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Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes.
 

Author(s): Janine M Lamonica, Deborah Y Kwon, Darren Goffin, Polina Fenik, Brian S Johnson, Yue Cui, Hengyi Guo, Sigrid Veasey, Zhaolan Zhou

Journal: J. Clin. Invest.. 2017 May;127(5):1889-1904.

 

Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome (RTT), a neurological disorder affecting cognitive development, respiration, and motor function. Genetic restoration of MeCP2 expression reverses RTT-like phenotypes in mice, highlighting ...

Last Updated: 10 Apr 2017

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

MeCP2 mutations: progress towards understanding and treating Rett syndrome.
 

Author(s): Ruth R Shah, Adrian P Bird

Journal:

 

Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge ...

Last Updated: 18 Feb 2017

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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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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: 23 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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