What is Rett?
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 grwth for head, feet and hands