Definition of Rett syndrome
Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.
Causes, incidence, and risk factors
Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.
An infant with Rett syndrome usually has normal development for the first 6 – 18 months. Symptoms range from mild to severe.
Signs and tests
Genetic testing may be done to look for the gene defect associated with the syndrome. However, since the defect is not identified in everyone with the disease, the diagnosis of Rett syndrome is based on symptoms.
Treatment may include:
The disease slowly progresses until the patient is a teenager. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in late adolescence.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/12/2010