Rett syndrome

Rett syndrome (RTT) is a genetic disorder that affects how the brain develops. Children born with this condition are almost always girls. Symptoms usually appear around 6–18 months of age and include problems with language and coordination, as well as repeating the same movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis (curved spine), and sleeping problems. The condition can vary in how severe it is.

Rett syndrome is caused by a genetic mutation in the MECP2 gene, on the X chromosome. It almost always happens as a new mutation, with less than one percent of cases being inherited (passed on by a parent). It mostly only affects girls; boys who have a similar mutation usually die shortly after birth. Diagnosis is based on the symptoms and can be checked with genetic testing.

There is no known cure for Rett syndrome. However, there are treatments that can help with symptoms. Medications called anticonvulsants may be used to help with seizures. Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child.  Gene therapy is being researched as a possible treatment for Rett Syndrome in the future. Many women with Rett Syndrome live into middle age.

The condition affects about 1 in 8,500 females. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition. Before the genetic cause for Rett Syndrome was found, the condition was put into the category of a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders. In 2013, the DSM-5 stopped classifying the syndrome as a mental disorder.

Rett Syndrome was named after Andreas Rett, a pediatrician in Vienna, Austria, who first described the condition in 1966.

References

Category:Autism
Category:Diseases and disorders of the nervous system
Category:Genetic disorders
Category:Syndromes