Illuminating Rett syndrome: Latest pharmacological advancements

By Dr Nicola Davies

Rett syndrome is a rare neurological and developmental disorder that leads to a gradual decline in motor skills and language. An X-linked genetic disease, Rett syndrome occurs in approximately 1 in every 10,000 female births each year.1

Males born with the genetic mutation on their one X chromosome typically do not survive beyond infancy.2 The underlying cause of the condition is a mutation in the MECP2 gene on the X chromosome, which is crucial for neural development.3 Infants with Rett syndrome usually exhibit normal development until around 7 to 18 months, after which they begin to lose skills such as communication and purposeful hand movements.