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

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
 

Author(s): Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard, Jenny Downs

Journal:

 

Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small ...

Last Updated: 15 Apr 2016

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N-Methyl-D-Aspartate Receptors, Ketamine, and Rett Syndrome: Something Special on the Road to Treatments?
 

Author(s): David M Katz, Frank S Menniti, Robert J Mather

Journal: Biol. Psychiatry. 2016 May;79(9):710-2.

 

Last Updated: 15 Apr 2016

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Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.
 

Author(s): Carlos Bueno, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martinez

Journal:

 

Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around ...

Last Updated: 12 Apr 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 59 free, full-text review articles on human participants. First 3 results:

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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Rett syndrome: disruption of epigenetic control of postnatal neurological functions.
 

Author(s): Amy E Pohodich, Huda Y Zoghbi

Journal: Hum. Mol. Genet.. 2015 Oct;24(R1):R10-6.

 

Loss-of-function mutations in the X-linked gene Methyl-CpG-binding protein 2 (MECP2) cause a devastating pediatric neurological disorder called Rett syndrome. In males, these mutations typically result in severe neonatal encephalopathy and early lethality. On the other hand, owing ...

Last Updated: 17 Sep 2015

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Rett Syndrome: Reaching for Clinical Trials.
 

Author(s): Lucas Pozzo-Miller, Sandipan Pati, Alan K Percy

Journal: Neurotherapeutics. 2015 Jul;12(3):631-40.

 

Rett syndrome (RTT) is a syndromic autism spectrum disorder caused by loss-of-function mutations in MECP2. The methyl CpG binding protein 2 binds methylcytosine and 5-hydroxymethycytosine at CpG sites in promoter regions of target genes, controlling their transcription by recruiting ...

Last Updated: 3 Jul 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 13 Jun 2016

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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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Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 22 Jun 2016

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