What is Rett syndrome?

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls 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 of these mutations are 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

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

Join a panel of expert neurologists for an exploration of the urgent need for earlier diagnosis of Rett syndrome to ensure proper management. Panelists will review the stages of Rett syndrome, the criteria for diagnosis, the genetic mutations that cause the disease, and the place for genetic testing. Participating clinicians will recognize the available options to manage symptoms (gastrointestinal dysfunction, epilepsy, and physical and language deficits) and the promising therapies being investigated in clinical trials.

Rett Syndrome: Hope for Patients and Caregivers

This free CME activity is jointly provided by Global Education Group and PlatformQ Health Education, LLC, in collaboration with the National Organization for Rare Disorders, Inc. (NORD) and International Rett Syndrome Foundation.

This activity was released on August 18, 2022 and is valid until August 18, 2023. Requests for credit must be made no later than August 18, 2023.