Most girls develop seizures, repetitive hand movements, irregular breathing and motor-control problems. A slowing of the rate of head growth also becomes apparent. Most researchers agree that RS is a developmental disorder rather than a progressive, degenerative disorder. The girls can live to adulthood, but most never regain the ability to use their hands or to speak . RS is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay.
Genetic testing is now available to confirm the diagnosis.
Laboratories testing for MECP2 mutations. Not every female with RS displays all of the symptoms, and individual symptoms may vary in severity.