Frequently Asked Questions
-
Rett syndrome, also known as Rett's disorder, is a rare genetic neurological disorder that primarily affects girls. It was first described by Austrian pediatrician Andreas Rett in 1966. Rett syndrome is typically characterized by a period of normal development in early infancy, followed by a loss of acquired skills, such as speech and motor abilities. It is considered a severe and progressive disorder that affects various aspects of a person's life, including motor skills, communication, and cognitive functioning.
-
Loss of purposeful hand skills: Children with Rett syndrome often lose their ability to use their hands for activities like feeding themselves or playing with toys Hand-wringing or repetitive hand movements: Individuals with Rett syndrome frequently display stereotypical hand movements, such as wringing, clapping, tapping, or rubbing their hands together. Hand-wringing or repetitive hand movements: Individuals with Rett syndrome frequently display stereotypical hand movements, such as wringing, clapping, tapping, or rubbing their hands together. Motor problems: Affected individuals may have difficulty with mobility, including problems with walking, balance, and coordination. Loss of speech and social engagement: Rett syndrome typically results in a loss of spoken language and reduced interest in social interactions.
-
MECP2 Research: Since most cases of Rett syndrome are caused by mutations in the MECP2 gene, research efforts are focused on understanding the role of this gene and exploring potential gene therapies to correct or compensate for these mutations.
