Rett Syndrome is a genetic developmental disorder that occurs mostly in females. It appears in an estimated 1 out of every 15,000 female births around the world, regardless of race and believed to be unrelated to any inheritable factor. It was originally identified by Dr. Andreas Rett in 1966, and named after the doctor. Rett Syndrome is believed to be caused by mutations in a gene transmitted as an X-linked dominance trait. It is the first human disease that has been found that is caused by defects in a protein. Most cases of Rett Syndrome follow a relatively predictable pattern. Usually, it is the severity of the symptoms that vary from person to person. Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development, and conducting ongoing evaluations of the child's physical and neurological status.
Instructions
1. The signs of Rett Syndrome do not develop in a child until 5 months to 3 years after the child is born. People who have Rhett Syndrome generally develop normally for about the first 6 to 18 months of their lives. As the child gets older, watch to see if the child's head is growing slowly. The child might have acquired microcephaly, which is a rare, neurological disorder in which the circumference of the head is smaller than average for the age and gender of the infant or child. The child may also be slower to gain new skills, or cease to acquire new skills completely. Other abnormal behaviors may include a decreased amount of eye contact, increasingly diminished muscle tone (hypotonia) and inattentive behavior.
2. Watch to see if the child continues to regress in their development. Often, by 3 years old, spontaneous use and control over the hands has been lost, as well as initial speaking skills. Other characteristics of Rett Syndrome will begin to show, such as constant uncontrolled hand movements. The child may also have involuntary grinding, gnashing or clenching of teeth. He or she may be unable to perform most voluntary movements, such as walking. Hyperventilation may be another symptom.
3. Notice if the developmental regression stops. This should happen around mid-childhood, and occasionally earlier, from 2 to 10 years old. The symptoms will begin to stabilize. However, usually before the child turns 8 years old, scoliosis develops.
4. Continue to watch the development of the child. While some children who have Rett Syndrome remain in the stable stage, others deteriorate throughout their teenage years. Some may accomplish few developmental gains, such as an increased attention span and slight improvements in communication skills. Other Rett Syndrome patients develop increasing difficulties with their motor skills, and may lose the ability to walk altogether.
5. Look for other symptoms of Rett Syndrome such as growth retardation, abnormal sleep patterns, breathing difficulties, small feet, chewing and swallowing difficulties, toe-walking, constipation, and poor blood circulation to the lower legs and feet.
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