What is Rett syndrome?

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls, more rarely in boys, and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained.

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 900 different mutations found on the MECP2 gene, most found in eight different “hot spots.” Rett syndrome is not a degenerative disorder with individuals living to middle age or beyond. Rett syndrome occurs worldwide in 1 of every 10,000 female births and is even rarer in boys. Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation.

Symptoms may include:

  • Loss of speech
  • Loss of purposeful use of hands
  • Involuntary hand movements such as handwashing
  • Loss of mobility or gait disturbances
  • Loss of muscle tone
  • Seizures or Rett “episodes”
  • Scoliosis
  • Breathing issues
  • Sleep disturbances
  • Slowed rate of growth for head, feet and hands

Rett Syndrome CME Opportunities

For pediatricians, neurologists, or anyone involved in the treatment of patients with Rett syndrome.

Register for the below for these FREE continuing medical education (CME) opportunities. Learn about Rett syndrome from diagnosis to care and treatment from a panel of experts and parents of children with Rett.