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RETT Syndrome Research Paper

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RETT Syndrome RETT Syndrome is a progressive neurodevelopmental disorder that occurs almost exclusively in females. RETT Syndrome is “caused by mutations on the X chromosome on a gene called MECP2” (What is). According to the Mayo Clinic, this mutation results in problems with a protein that is critical for brain development. RETT Syndrome is a spectrum disorder, which as Neul explains, means that its severity is “determined by the location, type, and severity of the MECP2 mutation and the process of random X-inactivation.” The incidence in females is “1 of every 10,000 births” (What is). Since RETT is caused by a mutation on the X chromosome and males only have one X chromosome as opposed to the two X chromosomes females possess, many males …show more content…
RETT syndrome is a spectrum disorder, so symptoms present differently in different individuals. Children with RETT Syndrome appear to be developing normally for the first six to eighteen months of life. It is at this point that the first symptoms typically occur. Symptoms in children with classic RETT Syndrome occur in four stages. The first stage, called early onset, starts when the affected child is between six and eighteen months old. At this point, the child will begin to regress, losing developmental milestones such as maintaining eye contact (Neul). Children also become more irritable and may cry for hours inconsolably for no reason. They start to lose interest in toys. Stage two is called rapid destruction and occurs between one and four years of life. “Affected individuals begin to lose previously acquired skills, specifically spoken language and hand skills” (Neul). Stereotypical hand movements are also prominent during this stage. These hand movements include hand wringing or squeezing, clapping, rubbing, hand washing, or hand to mouth movement. A smaller than normal head size is also one of the first main signs of RETT Syndrome and is noticeable in this stage. Children’s ability to crawl and walk also begins to decrease. Breathing irregularities begin in this stage, including breath holding, hyperventilation, and swallowing air. The third stage is called plateau and occurs between two and ten years of age. …show more content…
Individuals living with RETT Syndrome require lifelong care with daily living skills. These individuals typically have sleep problems, including falling asleep during the day or waking up at night. They also have difficulty eating which leads to poor nutrition and delayed growth. Gastrointestinal problems are also associated with the disorder. As mentioned earlier, there are many health related issues associated with RETT Syndrome, including muscle and joint problems. Individuals living with RETT Syndrome have a shortened life span because of heart problems and other health complications that they face (Mayo

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