Rett syndrome

background

Rett syndrome (RTT) is a rare brain disorder that occurs almost exclusively in females. Most experts believe Rett syndrome is a neurodevelopmental disorder, rather than a condition that worsens over time.
Female infants with Rett syndrome appear to develop normally at first, but once they reach 6-18 months of age, they stop developing and lose most of their previously developed skills, such as speaking or making purposeful movements with their hands. Eventually, these patients grow up to become intellectually disabled (formerly called mentally retarded). If Rett syndrome occurs in male fetuses, it leads to miscarriage, stillbirth, or death during infancy.
Rett syndrome is caused by a mutated gene that randomly occurs for unknown reasons. Researchers estimate that Rett syndrome occurs in 1 out of 10,000-23,000 births each year worldwide.
Because Rett syndrome affects the way the brain grows and develops, the condition is classified as a pervasive development disorder (PDD).
There is currently no cure for Rett syndrome. In females, the disease typically stops progressing for many years when the child is 2-10 years of age. Most females live to be 40-50 years of age. Males, on the other hand, often die before birth. Males that are born alive usually die during infancy. Treatment for Rett syndrome focuses on improving the patient's functional and communication skills. Patients require lifelong care and support and help with daily tasks, such as eating, walking, and toileting.

Related Terms

Brain disorder, chromosomal disorder, developmental disorder, genetic disorder, genetic mutation, inherited disorder, MECP2, methl-CpG-binding protein 2, neurodevelopmental disorder, neurological disorder, sex-linked trait, PDD, pervasive development disorder, X-chromosome, X-linked dominant trait.