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DIAGNOSING
RETT SYNDROME
RS
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
to patient.
Diagnostic
Criteria
- Period
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).
- Normal
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).
- Loss
of verbal language.
- Purposeful
hand use is replaced by stereotypical hand movements (these can
include a multitude of hand movements, some girls have movements
unique to them).
- If
able to walk the gait is usually wide-based and stiff legged.
- Shakiness
of torso and/or limbs, especially when upset.
- Supportive
Criteria
- Breathing
pattern irregularities which include hyperventilation, breath
holding, apnea, air swallowing
- EEG
abnormalities
- Seizures
- Scoliosis
- Teeth
grinding
- Gastrointestinal
issues which may include reflux, constipation, poor nutrient absorption
- Growth retardation and decreased body fat and muscle
mass
- Biting/Chewing/Swallowing
difficulties
- Poor circulation to legs and feet
- Decreased
mobility with age
- Muscle
rigidity/spasticity/joint contractures
- Small
feet
- Abnormal
sleep patterns
- Irritability
and agitation
Reprinted
by permission from the
Rett Syndrome Research
Foundation
4600
Devitt Drive
Cincinnati, Ohio 45246
Phone: 513-874-3020
Fax: 513-874-2520
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