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How is Rett syndrome diagnosed?

Doctors can clinically diagnose Rett syndrome by observing signs and symptoms during the child’s early growth and development, and conducting ongoing evaluations of the child’s physical and neurological status.  There is also now a genetic test to complement the clinical diagnosis, which involves searching for the MECP2 mutation on the child’s X chromosome.  Read more about the diagnosis and the diagnostic criteria used here.

 

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