Rett Syndrome

Rett syndrome is a neurodevelopmental disorder that affects primarily girls and causes intellectual disability, difficulties with motor skills and communication, and often autism spectrum disorder. The syndrome is caused by mutations in the gene encoding the methyl-CpG binding protein 2 (MECP2). Rett syndrome typically begins to manifest around 6-18 months of age after a period of apparently normal development. Early symptoms include slowed head growth, loss of purposeful use of the hands, problems with speech and gait, and diminished social engagement. As the disease progresses, affected individuals may develop seizures, scoliosis, and abnormal autonomic function. There is currently no cure for Rett syndrome, but early diagnosis and intervention can improve outcomes.