is a clinical diagnosis based on symptoms. At this time, approximately
75% of all patients diagnosed with RS also test positive for a MECP2
mutation. This does not mean that the remaining 25% do not
have RS. Although testing positive for a mutation confirms
the diagnosis it is not required for one. (Laboratories
testing for MECP2 Mutations) The criteria below are used
for making a diagnosis of RS. Please keep in mind that RS
is a spectrum disorder. Not all the symptoms are seen in every
patient and the severity of a symptom may vary widely from patient
of apparent normal development until 6-18 months (some girls have
an earlier onset of RS symptoms and therefore have no apparently
normal period of development).
head circumference at birth followed by slowing of the rate of
head growth (there is a subset of girls whose head circumference
does not decelerate).
of verbal language.
hand use is replaced by stereotypical hand movements (these can
include a multitude of hand movements, some girls have movements
unique to them).
able to walk the gait is usually wide-based and stiff legged.
of torso and/or limbs, especially when upset.
pattern irregularities which include hyperventilation, breath
holding, apnea, air swallowing
issues which may include reflux, constipation, poor nutrient absorption
- Growth retardation and decreased body fat and muscle
- Poor circulation to legs and feet
mobility with age
by permission from the
Rett Syndrome Research
Cincinnati, Ohio 45246