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

Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs.
 

Author(s): Silvia Leoncini, Claudio De Felice, Cinzia Signorini, Gloria Zollo, Alessio Cortelazzo, Thierry Durand, Jean-Marie Galano, Roberto Guerranti, Marcello Rossi, Lucia Ciccoli, Joussef Hayek

Journal: Oxid Med Cell Longev. 2015 ;2015():421624.

 

An involvement of the immune system has been suggested in Rett syndrome (RTT), a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-CpG binding protein 2 gene (MECP2) or, more rarely, cyclin-dependent kinase-like 5 (CDKL5). ...

Last Updated: 3 Aug 2015

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MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution.
 

Author(s): Maria Carolina Viana, Albert Nobre Menezes, Miguel Angelo M Moreira, Alcides Pissinatti, Héctor N Seuánez

Journal:

 

The methyl-CpG Binding Protein two gene (MECP2) encodes a multifunctional protein comprising two isoforms involved in nuclear organization and regulation of splicing and mRNA template activity. This gene is normally expressed in all tissues, with a higher expression level in the brain ...

Last Updated: 7 Jul 2015

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Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2.
 

Author(s): Tugba G Kucukkal, Emil Alexov

Journal: Comput Math Methods Med. 2015 ;2015():746157.

 

Rett Syndrome (RTT) is a progressive neurodevelopmental disease affecting females. RTT is caused by mutations in the MECP2 gene and various amino acid substitutions have been identified clinically in different domains of the multifunctional MeCP2 protein encoded by this gene. The ...

Last Updated: 11 Jun 2015

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

Assessment and management of nutrition and growth in Rett syndrome.
 

Author(s): Helen Leonard, Madhur Ravikumara, Gordon Baikie, Nusrat Naseem, Carolyn Ellaway, Alan Percy, Suzanne Abraham, Suzanne Geerts, Jane Lane, Mary Jones, Katherine Bathgate, Jenny Downs,

Journal: J. Pediatr. Gastroenterol. Nutr.. 2013 Oct;57(4):451-60.

 

We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.

Last Updated: 2 Oct 2013

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Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.
 

Author(s): Christopher A Chapleau, Jane Lane, Lucas Pozzo-Miller, Alan K Percy

Journal: Curr Clin Pharmacol. 2013 Nov;8(4):358-69.

 

Neurodevelopmental disorders are a large family of conditions of genetic or environmental origin that are characterized by deficiencies in cognitive and behavioral functions. The therapeutic management of individuals with these disorders is typically complex and is limited to the ...

Last Updated: 2 Oct 2013

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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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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

A Safety Study of NNZ-2566 in Pediatric Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 22 Apr 2016

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Treatment of Rett Syndrome With Recombinant Human IGF-1
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 16 Sep 2015

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Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome

 

Last Updated: 24 Feb 2016

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