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
- apparently normal prenatal and perinatal history
- psychomotor development largely normal through the first six months or may be delayed from birth
- normal head circumference at birth
- postnatal deceleration of head growth in the majority
- loss of achieved purposeful hand skill between ages 1⁄2–2 1⁄2 years
- stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and
washing/rubbing automatisms
- emerging social withdrawal, communication dysfunction, loss of learned words, and cognitive impairment
- impaired (dyspraxic) or failing locomotion
Supportive criteria
- awake disturbances of breathing (hyperventilation, breathholding, forced expulsion of air or saliva, air swallowing)
- bruxism
- impaired sleep pattern from early infancy
- abnormal muscle tone successively associated with muscle wasting and dystonia
- peripheral vasomotor disturbances
- scoliosis/kyphosis progressing through childhood
- growth retardation
- hypotrophic small and cold feet; small, thin hands
Exclusion criteria
- organomegaly or other signs of storage disease
- retinopathy, optic atrophy, or cataract
- evidence of perinatal or postnatal brain damage
- existence of identifiable metabolic or other progressive neurological disorder
Delineation of variant phenotypes
Inclusion criteria
- meet at least 3 of 6 main criteria
- meet at least 5 of 11 supportive criteria
Six main criteria
- absence or reduction of hand skills
- reduction or loss of babble speech
- monotonous pattern to hand stereotypies
- reduction or loss of communication skills
- deceleraton of head growth from first years of life
- RS disease profile: a regression stage followed by a recovery of interaction contrasting with slow neuromotor regression
Eleven supportive criteria
- breathing irregularities
- bloating/air swallowing
- teeth grinding, harsh sounding type
- abnormal locomotion
- scoliosis/kyphosis
- lower limb amyotrophy
- cold, purplish feet, usually growth impaired
- sleep disturbances including night screaming outbursts
- laughing/screaming spells
- diminished response to pain
- intense eye contact/eye pointing