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”
- 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.
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.
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 September 14, 2023. Requests for credit must be made no later than September 14, 2023.
Even after the onset of symptoms, a diagnosis of Rett syndrome is often delayed by 12 months or more. Improving outcomes for patients with Rett syndrome depends upon improving accurate and timely diagnoses and individualizing treatments based on each patient’s needs and comorbidities. As agents to treat the core symptoms of Rett syndrome are advancing in clinical trial development, with a promising agents expected to be approved by the US FDA in early 2022, early diagnosis is becoming of the utmost importance to ensure access to these breakthrough agents.
Join a panel of neurology and pediatric specialists, as well as a patient advocate, to explore ways to reduce the time to diagnosis by recognizing early signs of Rett syndrome, understanding the place of genetic testing, and asking questions to gauge patient/caregiver experiences. Panelists will discuss strategies to ensure patients and caregivers understand the available and emerging treatment options for Rett syndrome, the latest clinical findings, and the importance of multidisciplinary care. Clinicians will be prepared to facilitate access to breakthrough therapies and improve quality of life for their patients with Rett syndrome.
This 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 February 17, 2023 and is valid until February 17, 2024. Requests for credit must be made no later than February 17, 2024.