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

View Details
Logo
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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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 "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

View Details
Logo
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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

News and Media Center at IRSF

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

Updated 18 Mar 2013

Go To URL
Rett Syndrome Handbook

Rett Syndrome Handbook, 2nd edition.

Updated 18 Mar 2013

Go To URL
 
 
Top

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

Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report.
 

Author(s): Yudan Lv, Chang Liu, Mingchao Shi, Li Cui

Journal:

 

Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn't ...

Last Updated: 14 Jun 2016

Go To URL
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

Go To URL
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

Go To URL

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 58 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

Go To URL
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

Go To URL
[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

Go To URL
 
 
Top

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

Go to URL
Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 13 Jun 2016

Go to URL
The Findings of MR Imaging in Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 12 Sep 2016

Go to URL