Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Children with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.
HOW IS RETT SYNDROME DIAGNOSED?
Diagnosis is done by a general physician who would do some genetic tests and also an MRI.
HOW IS RETT SYNDROME TREATED?
There is no cure for Rett Syndrome, only symptomatic relief may be provided. Regular medical care, medications, physical therapy, occupational therapy, speech language therapy, nutritional support and behavioral intervention are followed for improving quality of life of patients affected with Rett Syndrome.
DID YOU KNOW?
The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized.