What is Rett Syndrome?
Rett is a neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys
It can be misdiagnosed as autism, cerebral palsy, or non-specific developmental delay
It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots”
It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. Although Rett syndrome can affect males, the incidence in males is not known
It is not a degenerative disorder
It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion
Symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotypical hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent
Other problems may include seizures and disorganized breathing patterns while she is awake, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve
It can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different