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.
Who is O.R.S.A.?
The Ontario Rett Syndrome Association (O.R.S.A.) is a volunteer, not-for-profit charity for parents, caregivers, researchers, medical professionals and other interested agencies and individuals. O.R.S.A. became incorporated in 1991. The association provides support to families, awards grants for Canadian research projects, funds three Rett syndrome clinics and developed the Canadian Rett Syndrome Registry. O.R.S.A. advocates to the needs of individuals with Rett syndrome and their families provincially and nationally.
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.