Rett syndrome is a neurological disorder affecting primarily females. Children with Rett Syndrome often exhibit autistic-like behaviors, such as repetitive hand movements, prolonged toe walking, body rocking and sleep problems, but the pathology is very different than autism.
In 1999, Dr. Huda Zoghbi and her colleaguesdetermined that Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
Typical Characteristics of Rett Syndrome
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
Rett syndrome presents many challenges, but with intervention, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.
Visit the International Rett Syndrome Foundation website at: