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

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

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. While there is strong evidence of a genetic basis, the origin and cause of RS remain unknown. 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.

How Can I Help?

Tell your friends about Rett syndrome.
Let them know that there is no known cause, treatment, or cure.
Have your friends tell others about this long-overlooked disorder.
Do you know someone who might have a child with Rett syndrome? There are probably 8-10,000 girls in the U.S. with Rett syndrome who are misdiagnosed, usually with autism or cerebral palsy.
Tell your doctor and others in the medical field about Rett syndrome. Chances are good they have never heard of it.
Understand the plight of the family who has waited years, even decades without answers for their child's regression.
  A lifetime of caretaking puts a severe strain on the strongest of families. Do you know someone who can provide help or respite to a family?
Give generously to help find the missing puzzle pieces that will put an end to Rett Syndrome.