Rett syndrome (RTT) is a disorder of the nervous system. This condition leads to developmental problems in children. It mostly affects language skills and hand use.
CAUSES:
RTT occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.
Most RTT cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females have 2 X chromosomes. Even when one chromosome has this defect, the other X chromosome is normal enough for the child to survive.
Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.
SYMPTOMS:
An infant with RTT usually has normal development for the first 6 to 18 months. Symptoms range from mild to severe.
Symptoms may include:
- Breathing problems, which may get worse with stress. Breathing is usually normal during sleep and abnormal while awake.
- Change in development.
- Excessive saliva and drooling.
- Floppy arms and legs, which is frequently the first sign.
- Intellectual disabilities and learning difficulties.
- Scoliosis.
- Shaky, unsteady, stiff gait or toe walking.
- Seizures.
- Slowing head growth beginning at 5 to 6 months of age.
- Loss of normal sleep patterns.
- Loss of purposeful hand movements: For example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth.
- Loss of social engagement.
- Ongoing, severe constipation and gastroesophageal reflux (GERD).
- Poor circulation that can lead to cold and bluish arms and legs.
- Severe language development problems.
