Rett Syndrome

  • Rett syndrome is a neurological disorder which occurs almost exclusively in females.
  • It is caused by mutations on the X chromosome on a gene called MECP2.
  • It strikes all racial and ethnic groups and occurs worldwide in approximately 1 or every 10,000 female births.
  • Symptoms appear following an early period of normal development until 6 to 18 months of age, which is followed by a period of rapid regression and loss of skills including communication skills and purposeful use of their hands.
  • The most fundamental and debilitating aspect of Rett syndrome is “apraxia”, meaning the inability to execute any purposeful motor movement or coordinate thought and action.  It impacts all body movement and consequently, the child typically lose their speech and often the ability to walk.
  • RS also can cause seizures, breathing and circulatory problems, sensory disruption, involuntary hand-wringing, scoliosis, cardiac dysfunction, sleep disturbances, and gastrointestinal issues.
  • All of these conditions conspire to mask the expression of the person on the inside, and severely limit their ability to demonstrate that they are “in there”.

Every 2 hours a child is born with Rett syndrome