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Darby- Rhett Syndrome

Page history last edited by Darby C 7 years, 10 months ago


Rett Syndrome

By:  Darby Coughlin  9-2



Rett syndrome




 What is a Genetic Disorder?


 A genetic disorder is a flaw in one's genes or chromosomes.  These flaws may only create a small gene mutation, but it is aslo capable of creating either not having enough or too many chromosomes.  Diseases are caused by a mutation in the individual's genes.  Some expamples of disease are cancer, heart disease and diabetes.  Genetic disease can be inherited.  It is able to be passed down because it is a mutation in the germ cell. The germ cell is the cell used to pass down genetic information from the parent to the child.




 What is Rett Syndrome?


Rett Syndrome is a brain disorder that affects the nervous system, mainly in girls as it is located on the X-cromosome.  It causes a defect in the methl-CpG-binding protein 2 (MeCP2) gene.  This disorder leads to developmental problems such as communication and lanuguage problems, as well as learning, coordination, and other brain function problems.  The most common form of Rett Syndrome is called Classical Rett.  It usually takes 6-18 months after birth before the disease starts doing the 'damage'.   During those 6-18 months the child develops at a regular pace with no issues.  Once the disease kicks in, the girls will lose function in their hands and begin to do repeated hand clapping. During this stage the child grows slower than most other children. 




 How are People Affected by Rett Syndrome?


Rett Syndrome affects around 1 in 10,000 females.  It is very unlikely to inherit this disease, but it is possible. There is a 1% chance to get this disorder from your parents.  It is mainly just a mutation in the MeCP2 gene. There are only a few cases that have had more than one family member in the family to have this disorder.  



 What are the Different Types of Rett Syndrome?


There are 3 different types of Rett Syndrome:

  • Atypical
  • Classical
  • Provisional 

Atypical Rett Syndrome is when the child is diagnosed with Rett Symptom, but does not meet all of the diagnostic criteria.  The symptoms may be more mild or more extreme then Classical Rett Syndrome. Some examples for not reaching the diagnostic are:

  • The disorder becomes affecting the child either early (soon after birth) or late (after the 18 month limit; can be as late as 3 or 4 years old).
  • The speech and hand skills problems are mild.
  • The disorder appears in a boy (very rare).

Classical Rett Syndrome is when the female meets all diagnostic criteria.  Example:

  • The child is diagnosed between the ages of 6-18 months
  • Is female

Provisional Rett Syndrome is when the child is diagnosed within 1 to 3 years.  It is when they show symptoms, but not enough to meet diagnostic criteria.   


problems with movement and coordination   (Inability to walk)


 What are Symtoms of Rett Syndrome


Some of the main symptoms are: 

  • Breathing problems-problems tend to get worse with stress (breathing is normal while sleeping and gets worse during the day.
  • Change in development
  • Excessive saliva and drooling
  • Floppy arms and legs-usually the first sign
  • Intellectual disabilities and learning difficulties          
  • Scoliosis (abnormal curving of the spine)
  • Shaky, unsteady or stiff movement                                              
  • Seizures
  • Slowing head growth
  • Loss of normal sleep patterns
  • Loss of hand movement
  • Loss of social engagement
  • Poor circulation
  • Severe constipation
  • Severe language problems


scoliosis      (Scoliosis)


 What Treatments can be used for Rett Syndrome?


If the child has Rett Syndrome, parents can try:

  • Help feeding and diapering
  • Methods to treat constipation and GERD
  • Physical therapy to help prevent hand problems
  • Weight bearing excercises for those with Scoliosis 

A feeding tube may be needed if the child inhales her food.

  • Feeding it more food will cause weight gain, which may improve alertness and social interaction

Carbamazepine is used to treat the child's seizures. Other medications you can use are:

  • Bromocriptine 
  • Dextromethorphan
  • Floate and Betain
  • L-Canitine (may help improve language skills, muscle mass, alertness, energy, while decreasing constipation and daytime sleepyness
  • L-Dopa (motor rigidity in later stages of the disease)

You may also try stem cell therapy, alone or in gene therapy. 

I could not find any side effects for the treatments.



 What is Gene Therapy?


Gene therapy is a technique used to treat or prevent disease.  Scientists may be able to treat the disorder by inserting gene's into the patient rather that using drugs and surgery in the future.  Researchers are currently testing many different ways to perform gene therapy:

  • Replacing a mutated gene with a healthy gene
  • Inactivating, or "knocking-out" a mutated gene
  • Introducing a new gene to the body that would fight disease

This technique is risky and still under study to make this treatment effective to patients.  It is only currently being used for diseases with no cures.

For Rett Syndrome, gene therapy would be one if the last resorts to go for treatments.



This video was made in recognition of for Ontatio's Rett Syndrome Association


The View had done an interview with one of their cameramen who has a daughter who suffers from Rett Syndrome















<http://www.youtube.com/watch?v=d2Rv8JLH85I> (Video-What is Rett Syndrome?)

<http://www.youtube.com/watch?v=wNzyn_cfmtc> (Video-The View)

<http://mrsdisease.com/rett-syndrome-symptoms-causes-and-treatment/2013/02/18/> (Image 1)

<http://mrsdisease.com/rett-syndrome-symptoms-causes-and-treatment/2013/02/18/> (Image 2)

<http://mrsdisease.com/rett-syndrome-symptoms-causes-and-treatment/2013/02/18/> (Image 3-Scoliosis)




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