Symptoms and Diagnosis

Rett syndrome is diagnosed by considering the symptoms displayed. While it is known that Rett syndrome is caused by a mutation on the MeCP2 gene, testing for mutation is not currently used as the sole basis for diagnosing Rett syndrome.

The following diagnostic criteria show the list of symptoms associated with Rett syndrome. (The exclusion criteria are symptoms that indicate something other than Rett syndrome.)

This PDF shows some of the symptoms of Rett Syndrome.

Below the diagnostic criteria we have included a list of criteria for identifying variants of Rett syndrome, which gives another list of possible symptoms.

Diagnostic criteria

Necessary criteria

Supportive criteria

Exclusion criteria

Delineation of variant phenotypes

Inclusion criteria

Six main criteria

Eleven supportive criteria