Rett Syndrome

Question 1

what is it?

Answer 1

is a genetic disorder caused by mutations in the MECP2 gene, located on the X
chromosome. It primarily affects girls because they inherit two X chromosomes, and the mutation typically occurs on one of them

Question 2

key characteristics

Answer 2

-smaller than normal head size
-seizures
-affects ways that the brain develops
-Gait abnormalities
-hyperventilation

Question 3

Supports needed

Answer 3

-physical, occupational and speech therapy
-medications
-supportive care