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.

Symptoms: 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.

Cause: 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.