About Rett Syndrome
Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females.
The prevalence of RS in females is approximately one in every 10,000-23,000 individuals
and is found in all racial and ethnic groups worldwide. It is known that RS can
occur in males but is extremely rare. It is named for Dr. Andreas Rett, an Austrian
physician who identified the syndrome in 1966, although it remained unknown in
the United States until 1983.
RS has its clinical onset in most females between 6-18 months of age. Development
to that time appears normal. They then enter a period of regression, losing speech
and hand skills they had acquired. Most children develop seizures, repetitive
hand movements, irregular
breathing and motor-control problems.* A slowing of the rate of head growth
also becomes apparent.
Most researchers now agree
that RS is a developmental disorder rather than a progressive, degenerative
disorder as once thought. Survival into
adulthood is now expected barring other illnesses or serious physical complications.
Girls and women with RS can be expected to demonstrate a full range of emotions
and enjoy satisfying social, recreational, and educational experiences at
home and in the community.
In 1999, a research team led by Dr. Huda Y. Zoghbi of the Howard Hughes Medical
Institute and Houston’s Baylor College of Medicine identified the cause of Rett
Syndrome as a defect in the MECP2 gene on the X chromosome. RS is most often
misdiagnosed as autism, cerebral palsy or non-specific developmental delay. Correct
diagnosis is essential to receiving quality treatment. It is strongly suggested
to parents that a diagnosis should be obtained through a clinical evaluation
using agreed upon clinical criteria and clinical severity scales. Genetic testing
is now available to confirm the diagnosis.
*Not every child with RS displays all of the symptoms, and individual symptoms
may vary in severity.