Question: What is Rett syndrome?
Answer: Rett syndrome is a neurodevelopmental disorder in which a child develops along a typical path until about 6-18 months of age. After this time, there is a gradual loss of a broad range of skills that were previously acquired. There is a slowing of brain and head growth. There are problems in gross motor development. There may be seizures. Over time, the child develops an intellectual disability and may lose any acquired language. There is also a distinctive hand-wringing movement that develops.
Rett syndrome is present almost exclusively in girls. It varies in severity across the spectrum. It is a very rare disease with only one in 10-15,000 girls exhibiting it.
We do know a genetic basis for Rett syndrome. It's been discovered that a gene called MECP2 on the X chromosome is connected to the development of Rett syndrome.
At this time, there is no cure for Rett syndrome. We can, however, treat some symptoms. We can treat the seizures with medication. We can treat the loss of motor skills and self-care with occupational and physical therapy. Behavioral supports may be helpful along with language and communication therapy.