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RETT SYNDROME

I have never heard of Rett syndrome. Why?

Most people have never heard of Rett syndrome because it has only recently been formally recognized. In fact, it wasn't until 1983 that the condition known as Rett syndrome first appeared in medical literature. Those with Rett syndrome were likely once misdiagnosed with autism or cerebral palsy.

What causes Rett syndrome?

Rett syndrome is a condition caused by a gene mutation (MECP2) that occurs before birth. The discovery of the Rett syndrome gene was announced on October 1, 1999 by researchers at Baylor College of Medicine in Houston, Texas.

Why is it called Rett syndrome?

Rett syndrome is named for Dr. Andreas Rett, of Vienna, Austria, who first recognized the disorder at his clinic in 1965. A "syndrome" is the term for a group of symptoms that identify a special condition.

Why is Rett syndrome seen mainly in females?

Females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY). The mutation which causes Rett syndrome (MECP2) is on the X chromosome. So, if the mutation causing Rett syndrome appears on one X, females are able to survive because they still have another X. Males, on the other hand, have only one X (XY). If the mutation appears on a male's X chromosome, he would most likely not survive to birth.

This has led researchers to speculate that a male fetus that survives to birth with the MECP2 mutation would have far more severe symptoms than a female fetus--to the point that the condition would probably not even be recognized as Rett syndrome.

How many people have Rett syndrome?

Before the gene discovery, Rett syndrome was found to occur about once in 15,000 female births. New findings suggest that milder forms of Rett syndrome may exist in much higher numbers. There may be hundreds of thousands of girls and women with Rett syndrome throughout the world who are misdiagnosed or unidentified.

When is Rett syndrome first noticed?

The genetic mutation is there before birth, but it takes some time for enough problems to develop to be able to notice that something is wrong. A girl with Rett syndrome is usually born healthy and exhibits normal or near-normal development until 6-18 months of life.

What are the symptoms of Rett syndrome?

Again, Rett syndrome almost always affects girls as opposed to boys. At some point in the years following the first 6-18 months of life, the child experiences an overall regression. Below are the criteria for the diagnosis of Rett syndrome that must be present in combination with a positive test result for the MECP2 gene:

• Decreased head growth from 4 months to 4 years of age. 

• Loss of the ability to use hands functionally. 

• Loss of the ability to speak. 

• Repetitive hand movements such as clapping, tapping or wringing. Individuals with Rett syndrome often move their hands in a characteristic "washing" motion and/or repeatedly put their hands into their mouth. 

• If the child is able to walk, movement is stiff with the legs wide apart. As the child gets older, moving and walking may become increasingly difficult. 

Other symptoms may include: 

• Unusual breathing patterns: either holding the breath (apnea), or over-breathing (hyperventilation). 

• Seizures, which take place when the brain unexpectedly creates extra powerful electrical signals, affecting behavior and movement. Seizures aren't usually harmful in and of themselves. 

• Scoliosis, a curvature of the spine, may cause the child to lean to either side, or toward the front. 

• Some girls frequently grind their teeth. 

• Foot size is small, and poor circulation may make their feet very cold and/or swollen. 

• Girls are usually small in both height and weight for their age. 
  Girls may also be irritable and have trouble sleeping, have difficulty chewing and swallowing, and/or tremble and shake when upset or scared. 

Does Rett syndrome occur more than once in a family?

99.5% of the time, Rett syndrome occurs only once in a family. The spontaneous mutation that causes Rett syndrome happens after conception (not inherited from the parents). In a very small number of cases, less than .5%, the Rett syndrome gene is inherited, passing from one generation to the next or occurring more than once in a family.

What is the most difficult challenge for someone with Rett syndrome?

The individual with Rett syndrome has a number of problems that affect her in different ways. The biggest problem is apraxia, or the inability to program (usually automatic) the planning done by the brain to execute movements. Apraxia affects all aspects of motor functioning: the ability to walk, move, talk, etc.

What kind of therapies are used as treatment? 

• Physical Therapy is used to help with flexibility and to improve movement/walking. 

• Occupational Therapy helps with use of hands for everyday activities like eating and drinking, brushing teeth, and playing with toys or games. 

• Speech Therapy and Music Therapy are used to teach alternative ways of communicating. (Apraxia makes talking very difficult). 

• Through Hydrotherapy, individuals are able to perform basic exercises/movements more easily. 

• Hippotherapy (horseback riding) helps strengthen muscles and improves balance. 

How can I help?

In everyday interactions, patience is key. Individuals with Rett syndrome need extra time to respond--it may take several minutes before a girl can give an answer or make a movement to show understanding.

Is there a treatment for Rett syndrome?

Right now, the treatments available for Rett syndrome are to improve symptoms, such as medications to control seizures or to help motor coordination or breathing. However, scientific studies of medications based on the gene mutation are now underway, and the future holds promise that more effective treatments can be found.

Another Way You Can Help!

Donate To The Rett Syndrome Assocation, That Will Help Supply Funds For More Research And Hopefully A Cure!
Also Please Say A Prayer! That Cost Nothing, And Prayers Do Work! Thanks & GOD! BLESS You As Always,
WITH THE LOVE OF JESUS & MAY HIS DIVINE LIGHT SHINE UPON YOU,  RAM ^i^