Thread: Do you know anyone with Rett Syndrome??

I don't know anyone who has it but I did find some information on it if you're interested.


http://www.rettsyndrome.org/main/overview.htm


Overview of Rett Syndrome

Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide.

It is now known that RS can occur in males, but is usually lethal, causing miscarriage, stillbirth or early death.

First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983.


Dr. Andreas Rett at his clinic in Vienna, Austria

The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.

Other problems may include seizures and disorganized breathing patterns which occur when awake.

Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do.

Due to apraxia and lack of verbal communication skills, an accurate assessment of intelligence is difficult. Most traditional testing methods require use of the hands and/or speech, which may be impossible for the girl with RS.

RS is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. While many health professionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females. The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births.

Most researchers now agree that RS is a developmental disorder rather than a progressive, degenerative disorder as once thought. In October of 1999, the discovery of a genetic mutation (MECP2) on the X chromosome (Xq28) revealed significant insight into the cause of Rett syndrome. This mutation has now been found in up to 75% of typical and atypical cases of RS. Continued research will focus on other still unidentified genetic factors which contribute to RS. Researchers agree that the severity of RS is probably not linked to the exact location of individual mutations on MECP2, but to the X inactivation patterns in each affected girl. Barring illness or complications, survival into adulthood is expected.

The young girl with RS is well known for her attractive features, and as she grows older, her especially penetrating eyes.

She typically sits independently and finger feeds at the expected time.

Most girls do not crawl typically, but may "bottom scoot" or "combat crawl" without using their hands.

Some children start to use single words and word combinations before they lose this ability.

Predicting the severity of RS in any individual is difficult.

Many girls begin independent walking within the normal age range, while others show significant delay or inability to walk independently. Some begin walking and lose this skill, while others continue to walk throughout life. Still others do not walk until late childhood or adolescence.

Seizures can range from non-existent to severe, but do tend to lessen in their intensity in later adolescence.

Breathing abnormalities may occur and also tend to decrease with age.

While scoliosis is a prominent feature of RS, it can range from mild to severe.

Despite these difficulties, girls and women with RS can continue to learn and enjoy family and friends well into middle age and beyond.

They experience a full range of emotions and show their engaging personalities as they take part in social, educational and recreational activities at home and in the community.