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
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
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.
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
Breathing pattern irregularities which include hyperventilation, breath holding, apnea, air swallowing
Gastrointestinal issues which may include reflux, constipation, poor nutrient absorption
Growth retardation and decreased body fat and muscle mass