Atypical Rett syndrome

Common Name(s)

Atypical Rett syndrome, Rett like syndrome

Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome. Like classic Rett syndrome, atypical Rett syndrome predominantly affects girls. Atypical forms may present with either a milder or more severe clinical picture than that seen in typical Rett syndrome. Several subvariants of atypical Rett syndrome have been defined:

The early-onset seizure type is characterized by seizures in the first months of life with subsequent development of Rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). It is frequently caused by mutations in the X-linked CDKL5 gene (Xp22). The congenital variant is the most severe form of atypical Rett syndrome, with onset of classic Rett features during the first three months of life. This variant is generally caused by mutations in the FOXG1 gene (14q11-q13). The forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course. The late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills. The preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the MECP2 (Xq28) gene, which is also responsible for the majority of cases of classic Rett syndrome.
Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett syndrome which was defined by Hagberg in 1994. Molecular analysis may allow confirmation of the diagnosis.  

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CDKL5 UK

A UK Charity, set up to promote relief, care and services and to promote health for persons suffering from and affected by CDKL5. Registered Charity No. 1149099 Money raised for CDKL5 UK will be put to our key aims which are to promote relief, care and services to promote health, for persons suffering from and affected by CDKL5, in particular by: Funding research worldwide for treating the symptoms, including epilepsy and research into the genetic cause of CDKL5 and disseminating or publishing the useful results of such research for the benefit of the public.

Last Updated: 1 May 2013

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CDKL5 UK

A UK Charity, set up to promote relief, care and services and to promote health for persons suffering from and affected by CDKL5. Registered Charity No. 1149099 Money raised for CDKL5 UK will be put to our key aims which are to promote relief, care and services to promote health, for persons suffering from and affected by CDKL5, in particular by: Funding research worldwide for treating the symptoms, including epilepsy and research into the genetic cause of CDKL5 and disseminating or publishing the useful results of such research for the benefit of the public.

http://www.cdkl5uk.org

Last Updated: 1 May 2013

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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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General Support Organizations

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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 "Atypical Rett syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
 

Author(s): D Záhoráková, M Langová, K Brožová, J Laštůvková, Z Kalina, L Rennerová, P Martásek

Journal: Folia Biol. (Praha). 2016 ;62(2):67-74.

 

The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise ...

Last Updated: 18 May 2016

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Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
 

Author(s): Erica Leitão Ermel, Lauriane Caroline Carneiro, Carolina Fischinger Moura de Souza, Ana Chrystina de Souza Crippa, Maria Teresa Vieira Sanseverino, Salmo Raskin

Journal: Arq Neuropsiquiatr. 2013 Jun;71(6):414-5.

 

Last Updated: 5 Jul 2013

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Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
 

Author(s): Eveline E O Hagebeuk, Renilde A S van den Bossche, Al W de Weerd

Journal: Dev Med Child Neurol. 2013 May;55(5):480-4.

 

In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present ...

Last Updated: 11 Apr 2013

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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 "Atypical Rett syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
 

Author(s): Francois Dominique Jacob, Vijay Ramaswamy, John Andersen, Francois V Bolduc

Journal: Eur. J. Hum. Genet.. 2009 Dec;17(12):1577-81.

 

Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic ...

Last Updated: 20 Nov 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.