Rett Syndrome Diagnosis
A Rett syndrome (RTT) diagnosis is made by your clinicians. It requires fulfillment of the current diagnostic criteria. The presence of a MECP2 mutation is found in more than 95% of cases.
Criteria for Rett syndrome (RTT) Diagnosis
- Partial or complete loss of acquired purposeful hand skills
- Partial or complete loss of acquired spoken language
- Gait abnormalities: impaired or absence of ability to walk
- Hand wringing/squeezing/clapping/tapping, mouthing, and/or washing/rubbing that seems habitual or uncontrollable (stereotypical of Rett syndrome)
- Brain injury secondary to trauma, neurometabolic disease, or severe infection that causes neurological problems
- Grossly abnormal psychomotor development in first 6 months of life
- A period of regression followed by recovery or stabilization
- All main criteria and all exclusion criteria
- Supportive criteria are not required, though often present in typical RTT
- A period of regression followed by recovery or stabilization
- At least 2 of 4 main criteria
- 5 out of 11 Supportive Criteria from this list:
- Breathing disturbances when awake
- Bruxism when awake
- Impaired sleep pattern
- Abnormal muscle tone
- Peripheral vasomotor disturbances
- Scoliosis/kyphosis
- Growth retardation
- Small cold hands and feet
- Inappropriate laughing/screaming spells
- Diminished response to pain
- Intense eye communication – use of eye pointing
Supportive criteria are usually seen in Typical RTT; they are not unique to MECP2-related diagnoses.
- Male RTT encephalopathy
- Seen in males with MECP2 mutations who may not meet criteria for typical or atypical Rett Syndrome diagnosis
- MECP2-related disorders
- Seen in individuals with MECP2 mutations who do not meet criteria for typical or atypical Rett Syndrome diagnosis
- Individuals may have isolated intellectual disability, autism spectrum disorder, or behavioral disturbance
- MECP2 duplication disorder
- Seen in individuals with an entire extra copy (or more) of the MECP2 gene; there may also be extra copies of other genes nearby to the MECP2 gene.
- Individuals may have similar challenges as in Rett Syndrome, but the timing and severity of symptoms are different.
Consider Genetic Testing
A simple blood test can confirm if your child has the MECP2 mutation which causes Rett syndrome. While you can observe Rett-like behaviors knowing the specifics of your child’s mutation can help you:
- Confirm clinical diagnosis
- Learn more about the specific mutation
- Be eligible for clinical trials and natural history studies
- Contribute to growing knowledge of MECP2 mutations.
- Inform you of recurrence risks in future pregnancies
Consider talking to a genetic counselor and/or genetic specialist as part of the testing process. They can explain genes, mutations, recurrence risks, and more. Mutations happen normally and spontaneously. They are not caused by something you did or did not do around the time of pregnancy.
Genetic Testing Centers
Baylor College of Medicine
DNA Diagnostic Testing LaboratoryHouston, TX
P: (713) 798-6555 or (800) 411-4363 (GENE)
Boston University School of Medicine
Center for Human GeneticsBoston, MA
P: (617) 638-7083
University of Chicago
Genetic Services LaboratoriesChicago, IL
P: (888) 824-3637 or (888) 824-3637 (UC-GENES)