12/11/2021
What Is Rett Syndrome?
Rett Syndrome (RTT) is a neurodevelopmental condition characterized by the loss of spoken language and hand use, coupled with the development of distinctive hand stereotypes. This disorder is seen in infancy and occurs almost exclusively in females. It is usually caused by a mutation of the MECP2 gene on the X chromosome. Rett syndrome is found in all racial and ethnic groups throughout the world. It affects one in every ten thousand live female births. Early developmental milestones appear normal, but between 6-18 months of age, there is a delay or regression in development, particularly affecting speech, hand skills, and gait. A hallmark of Rett syndrome is repetitive hand movements that may become almost constant while awake. Other more common medical issues encountered include epileptic seizures, muscle stiffness, osteoporosis, and scoliosis. Despite its multiple handicaps, Rett syndrome is not a degenerative disease. Many individuals with Rett syndrome live long into adulthood. There is currently no cure.
For more information on Rett Syndrome, please visit the website for the Ontario Rett Syndrome Association (O.R.S.A) at www.rett.ca
The Ontario Rett Syndrome Association (O.R.S.A.) exists to ensure that children and adults with Rett Syndrome are enabled to achieve their full potential and enjoy the highest quality of life within their community. We are a volunteer, not-for-profit charity for parents, caregivers, researchers, med...
