Illuminating Rett Syndrome

5 October 2020

By Dr Nicola Davies

Rett syndrome (RTT) is a rare neurodevelopmental disorder, affecting about 1 in 10,000 girls born each year.1 Present at conception, RTT leads to major developmental regression around 6-30 months after birth, with patients typically becoming withdrawn and losing acquired social and motor skills.

Repetitive behaviors, respiratory phenotypes and autonomic dysfunction are also hallmarks of the disease. As an X-linked dominant disorder, males are rarely affected by RTT and if they are, they seldom survive into adulthood.

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