Difference between revisions of "Rett Syndrome"

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(New page: {{:variable_header}} == '''Autism''' == === Basic Characteristics === * Description Rett Syndrome is a rare developmental disorder categorized by the NIMH under the [[Autism Spectrum Diso...)
 
(Genetics)
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The development of Rett Syndrome is strongly believed to be caused by mutations in the gene MeCP2, a methylation protein which is responsible for regulation of protein synthesis in the brain.  Not all those who are clinically diagnosed with Rett Syndrome have an MeCP2 mutation, although a majority of cases do.  MeCP2 is located on the X chromosome and it is so critical to brain development that there are very few males who are born and survive with an MeCP2 mutation.  It is hypothesized that this is why most of those with Rett Syndrome are female and that the variability in symptoms is due to X chromosome deactivation.   
 
The development of Rett Syndrome is strongly believed to be caused by mutations in the gene MeCP2, a methylation protein which is responsible for regulation of protein synthesis in the brain.  Not all those who are clinically diagnosed with Rett Syndrome have an MeCP2 mutation, although a majority of cases do.  MeCP2 is located on the X chromosome and it is so critical to brain development that there are very few males who are born and survive with an MeCP2 mutation.  It is hypothesized that this is why most of those with Rett Syndrome are female and that the variability in symptoms is due to X chromosome deactivation.   
  
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===Animal Models===
 
* References
 
* References
  

Revision as of 12:39, 18 March 2009


Papers List | Variables List

Autism

Basic Characteristics

  • Description

Rett Syndrome is a rare developmental disorder categorized by the NIMH under the Autism Spectrum Disorders that is marked by severe social and communication impairments as well as repetitive behaviors. Rett Syndrome can be distinguished from the other disorders in the spectrum by a deceleration of head growth between 5 and 48 months, a loss of previously qcquired purposeful hand skills with the development of hand-wringing movements or handwashing movements. There is often a loss of social engagement early on in the course of development, though social skills usually develop later on. Those with Rett Syndrome often have poorly coordinated gaits while walking and are severely deficient in language development and psychomotor skills.

  • Diagnostic criteria
  • History

Treatments

Neuroimaging

Genetics

The development of Rett Syndrome is strongly believed to be caused by mutations in the gene MeCP2, a methylation protein which is responsible for regulation of protein synthesis in the brain. Not all those who are clinically diagnosed with Rett Syndrome have an MeCP2 mutation, although a majority of cases do. MeCP2 is located on the X chromosome and it is so critical to brain development that there are very few males who are born and survive with an MeCP2 mutation. It is hypothesized that this is why most of those with Rett Syndrome are female and that the variability in symptoms is due to X chromosome deactivation.


Animal Models

  • References


Related Information

  • Task or test associated with this construct (vote for your favorite, or nominate a new one by editing this page):
  • Indicators (dependent variables, conditions, or contrasts; measurement variables used for analysis) associated with this construct (vote or nominate by editing this page):
  • Closely related pages (vote or nominate related pages by editing this page):
  • CNP Level
    • Syndrome

External Resources

  • Database links