+39 02 610346.1 - info@newron.com

Rett Syndrome

Rett Syndrome

Rett syndrome is a severe neurodevelopmental disorder primarily affecting females, with an estimated prevalence ranging from 1 in 10,000 to 1 in 20,000 females. There are no approved treatments available. Rett syndrome is characterized by a loss of acquired fine and gross motor skills and the development of neurological, cognitive and autonomic dysfunction, which leads to loss of ability to conduct daily life activities, walk or communicate. Rett syndrome also is associated with a reduced life expectancy. Approximately 25 percent of the deaths in patients with Rett syndrome are possibly related to multiple cardio-respiratory dysrhythmias that result from brain stem immaturity and autonomic failure. More than 95 percent of these patients have a random mutation in the MECP2 gene. Episodes of apnea, hyperventilation and disordered breathing are found in approximately 70 percent of patients with Rett syndrome at some stage of their life. Breathing disturbances may affect the whole person body; they can have a marked effect on biochemistry, influence emotions, circulation and digestive function as well as musculoskeletal structures in the respiratory process. For more information on Rett Syndrome, visit www.rettsyndrome.org.

Useful Links

  • The International Rett Syndrome Foundation
  • Rett Syndrome Europe