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Rett Syndrome Was First Described By Dr. Andreas Rett In

2158 words - 9 pages

Rett Syndrome was first described by Dr. Andreas Rett in 1966 but was unknown in the United States until 1983. Rett Syndrome is a neurological disorder that affects mainly women. Boys who develop Rett Syndrome usually die early, are stillborn, or miscarried. Rett Syndrome is frequently misdiagnosed as autism, cerebral palsy, or a non-specific developmental delay. The signature symptom of Rett Syndrome is that the child is born normal and healthy. They usually develop normally until 6 to 18 months of age. At this time, they seem to enter a period of regression. While Rett Syndrome seems to be more prevalent in girls, it appears to have no prevalence in regard to race or ethnic groups. Rett Syndrome seems to affect all races and ethnic groups equally.Once the child begins to regress, several other symptoms begin to appear. Rett Syndrome girls begin to lose their communication skills. Those who were beginning to talk usually lose the ability to speak. The use of her hands becomes more stereotyped, posture becomes more rigid, walking becomes more difficult, and there is an apparent slowing in the growth rate of the head. The Rett Syndrome child usually develops apraxia, which is the inability to perform motor movements. Breathing problems are common with Rett Syndrome. Abnormal breathing such as hyperventilation, holding breath, apnea, and rapid shallow breathing is frequently associated with Rett Syndrome. A large number of Rett girls also swallow air, causing their stomachs to become hard and distended.As the Rett Syndrome child grows, her hand movements become more stereotyped and may include hand wringing, clapping, and hand tapping. A symptom of Rett Syndrome that is always there is scoliosis, or a curvature of the spine. This problem may eventually lead to surgery and/or braces. Seizures are common and usually can be controlled with medicine. Most girls outgrow the seizures eventually as they get older. Excessive drooling seems to be associated with difficulty in swallowing, chewing, and digestion. Acid reflux or GERD is another common symptom. More than 85% of Rett Syndrome girls have severe problems with constipation. This may be associated with the lack of physical activity, poor muscle tone, poor diet, seizure medications, low fluid intake and scoliosis. Motor development is severely retarded. The Rett Syndrome child usually has a wide-based, unsteady, rigid gait. As she grows older, she may lose her ability to walk at all. Bone fractures are common due to low bone minerals and decreased bone density. The Rett Syndrome child is usually small for their age and have a voracious appetite but still suffer from malnutrition. Circulation problems are common and often leave the Rett Syndrome child with cold feet, blue or red feet, and abnormal growth of the feet. Sleep is always something that does not come easy to the Rett Syndrome person. They tend to sleep more in the day and stay awake all night. The Rett Syndrome girl also has a very high...

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