What is Rett Syndrome(RTT)?
- Neurological disorder affecting 1 in 10,000 to 1 in 23,000 females, caused by the MECP2 gene on the X chromosome
- Normal development until 6 to 18 months, followed by a period of regression that leads to a loss of speech, motor and hand skills and physical disabilities
- Development of repetitive hand movements
- Possible EEG abnormalities, irregular breathing, seizures, scoliosis, teeth grinding, chewing and /or swallowing difficulties, poor weight gain, abnormal sleeping patterns and small feet
- Apraxia (dyspraxia), the inability to program the body to perform motor movements, the most severely handicapping aspect of Rett Sydrome
- Attractive features and penetrating eyes
Diagnosis
- Approximately 85% of all patients clinically diagnosed with RTT also test positive for a MECP2 mutation.
- Diagnosis must first be confirmed using the diagnostic criteria
- 99.5% of cases of RTT occur only once in a family
Care
Intensive physical, occupational, speech and augmentative communication therapies are highly recommended in supporting a female with RTT.
Despite their difficulties, girls and women with RTT can continue to learn and enjoy family and friends well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational and recreational activities at home and in the community.
Diagnostic Criteria
- Period of apparent normal development until 6 - 18 months
- Normal head circumference at birth followed by slowing of the rate of head growth
- Loss of verbal language and emerging social withdrawal
- Purposeful hand use is replaced by stereotypical hand movements such as hand wringing/squeezing, clapping/tapping, mouthing
- 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