About Rett Syndrome

Rett syndrome is a neurological disorder that is typically first recognized in infancy and seen almost always in girls. It is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay, and occurs in 1 of every 10,000 female births.

This disorder can lead to a wide set of mild to severe disabilities and patients typically experience problems with cognitive, sensory, emotional, motor and autonomic function. These problems can affect learning, speech, mood, movement, cardiac function, chewing, swallowing and digestion. Symptoms typically include communication skill regression and the loss of purposeful use of a patient's hands. Other symptoms include:

  1. seizures;
  2. disorganized breathing patterns while awake;
  3. scoliosis; and,
  4. sleep disturbances.

Rett syndrome can be diagnosed with a blood test. There are no current approved therapies for this disorder.

Resources for more information about Rett Syndrome

For more information about Rett syndrome, please visit rettsyndrome.org.