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Rett Syndrome (RS) is a neurological disorder
seen almost exclusively in females, and found in a variety of racial and ethnic
groups worldwide.
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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.
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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.
Source: http://www.rettsyndrome.org/main/overview.htm |
