Rett Syndrome Research Paper

989 Words2 Pages

Rett syndrome was discovered after a pediatrician in Vienna, Austria, Dr. Andreas Rett, in 1966. The recognition of this syndrome began when Dr. Rett saw two girls sitting in the waiting room of his office demonstrating similar hand-wringing movements. After forward investigation, he was able to find other patients in his practice with characteristics similar to those of the two little girls. He then published a study describing the syndrome but it had very little attention. In the early 1980’s,Rett syndrome was officially known and named after Begnt Hagberg noticed very similar cases to those described in Dr.Rett’s article. Rett syndrome is a debilitating neurological disorder that predominantly affects females. Rett syndrome primarily affects areas of expressive language and hand use..Itis a disorder exclusively in girls. This syndrome is caused by a single gene mutation that leads to the underproduction of an important brain protein, MECP2 (methyl CpG binding protein 2).“Rett syndrome causes problems in brain …show more content…

Smaller than normal head size is usually the first sign that a child has Rett syndrome. It generally starts to become apparent after 6 months of age. Loss of normal movement and coordination is another major symptom of Rett syndrome. The most notable loss of movement skills usually starts between 12 and 18 months of age. The first signs include a decrease of hand control and a decreasing ability to crawl or walk normally. As the disease progresses, children with Rett syndrome typically develop their own particular hand pattern including, hand wringing, squeezing, clapping, tapping or rubbing. Breathing problems include breath-holding, abnormally rapid breathing, and powerful exhalation of air. Scoliosis is a common symptom of Rett syndrome that develops usually after the age of 8. Symptoms and signs vary from person to person but they are all

More about Rett Syndrome Research Paper

Open Document