Rett syndrome is a severe neurological disorder that is diagnosed almost exclusively in females although it also occurs in some males. Rett syndrome affects all racial and ethnic groups and occurs worldwide in 1 of every 10,000 female births. The Ofﬁce of Rare Diseases of the National Institutes of Health classiﬁes Rett Syndrome as a “rare disease” since there are less than 200,000 affected individuals in the United States.
The disorder was ﬁrst identiﬁed by Dr. Andreas Rett, an Austrian physician, who described key aspects of the syndrome in a journal article published in 1966. It was not until 1983, when an article about the disorder was published in the United States that Rett syndrome was more widely recognized.
After a period of apparent normal development, Rett syndrome usually makes its appearance when the child is between six and eighteen months of age. There is usually a slowing down in acquiring skills followed by the loss of previously attained skills. Most children with Rett syndrome lose some speech and the purposeful use of their hands while developing repetitive hand movements.
Additional symptoms of Rett syndrome may include problems with crawling, walking, balance and coordination, seizures, anxiety, digestive and orthopedic issues, irritability and even breathing difﬁculties. The symptoms experienced and their severity vary from child to child.
In 1999 the cause of Rett syndrome was identiﬁed. Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. Although Rett syndrome is genetic, it is almost always caused by a random MECP2 mutation that is new to the child rather than one inherited from a parent. Genetic testing is available to detect the presence of a MECP2 mutation through a blood or saliva sample from the child. The child’s history, symptoms and genetic test results are all considered when making a diagnosis of Rett syndrome.
Although living with Rett syndrome presents many challenges, individuals with Rett syndrome can beneﬁt from taking part in social, educational, and recreational activities. Advances in technology are making it possible for individuals with Rett to explore and to develop communication skills. Right now there is no cure for Rett syndrome, but there are medications and therapies to treat symptoms and to improve the quality of life for the children and adults living with Rett syndrome. It is hopeful that ongoing research will soon discover improved treatments and ultimately a cure for the disorder.