Rett Syndrome

The Rett Syndrome topic includes research on the genetics, diagnosis, and treatment of the neurodevelopmental disorder Rett syndrome.

Rett Syndrom is a genetic disorder that occurs mostly in females. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions.

While there is no cure for Rett syndrome, the drug Trofinetide reduces swelling in the brain, increases the amount of a protective protein in the brain, and stops some cells from becoming too active. Other treatment approaches focus on treating specific symptoms or behaviors seen in Rett syndrome. Medication can help with breathing and movement problems and seizures.