Rett Syndrome

• 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