Rett syndrome is diagnosed through a clinical examination that looks for specific signs and behaviours; it is confirmed through genetic testing. It can occur, however, without any of the currently known genetic mutations. As with any medical condition there is a large amount of variation in people with Rett syndrome. For example some girls learn to walk, although in an abnormal way, while others are never able to walk independently. There are two types of diagnoses to be made: typical or classic RTT and atypical or variant RTT.
Typical or classic RTT is characterized by a period of regression followed by recovery or stabilization. It requires the presence of 4 main criteria – partial or complete loss of acquired purposeful hand skills, partial or complete loss of acquired spoken language, gait abnormalities and stereotypical hand movements, and must meet 2 exclusion criteria – no brain injury secondary to trauma and no grossly abnormal psychomotor development in the first six months of life. Some other supportive criteria are often present in this type of RTT but they are not required for the diagnosis.
For Rett syndrome to be considered atypical or variant, a period of regression must be present followed by recovery or stabilization and 2 of the 4 main criteria above must be met as well as 5 of 11 supportive criteria. These supportive criteria are:
Breathing disturbances when awake
Teeth grinding when awake
Impaired sleep pattern
Abnormal muscle tone
Peripheral vasomotor disturbances
Curvature of the spine – scoliosis/kyphosis
Small, cold hands and feet
Inappropriate laughing/screaming spells
Diminished response to pain
Intense eye communication – eye pointing
In Ontario, diagnosis is done by a clinical geneticist. A referral should be made by primary care physician or a pediatrician.