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.