Rett Syndrome

Topics: Mutation, DNA, Point mutation Pages: 7 (2605 words) Published: April 19, 2013
Inside Rett Syndrome
Christina Wenn
April 10, 2013

Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood, and one of the twins, Morgan, was diagnosed with Rett syndrome as an infant. I started babysitting the twins, Morgan and Ryan, when I was a freshman in high school, but I mainly took care of Morgan. She would giggle and smile, but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper, and was unable to walk. It was hard on the family when they found out that one of their twins had Rett syndrome. Ryan is completely normal, and experienced his childhood just as every other kid did. The parents needed a babysitter because Ryan was unable to take care of Morgan on his own. I babysat the twins up until Morgan’s death at the age of twelve. Morgan’s death was not only hard on the family, but was also hard for me as well. Even though Morgan was mute, she still knew who I was, and would laugh along with the rest of her family. The family knew that Morgan was not going to live very long, but that still didn’t make it any easier when she passed. Her siblings treated her as if nothing was wrong, and would take her everywhere that they went. Morgan touched the lives of everyone that knew her, and I am grateful that she was able to be a part of my life. Besides having a close relationship with a child with Rett syndrome, I have always found it fascinating that this disorder is almost exclusively expressed in females. Attending an all girl school is really getting to me! I wonder if the other twin had been a girl, would she too have had Rett syndrome? It was after encountering a child with Rett syndrome that I wanted to learn more about this genetic disorder. Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively, even though some reports of males with Rett syndrome have been reported. Rett syndrome is actually one of the leading causes of mental retardation and developmental regression in females. It occurs in roughly 1 in 10,000 females (Williamson, 2006). It is characterized by arrested development between 6-18 months of age, regression of acquired skills, loss of speech, stereotypical movements, seizures and mental retardation. The gene associated with this mutation is methyl-CpG-binding protein-2 (MECP2), which is a chromatin-associated protein that can activate and repress transcription. The gene is required for proper maturity of neurons and is developmentally regulated. (OMIM access number 312750, 1986.) Rett syndrome was discovered by a Viennese pediatrician, Rett, after he observed two girls that both appeared to exhibit similar behavior in a waiting room. (OMIM access number 312750, 1986.) A study was done with 35 patients from France, Portugal and Sweden; the study noted normal development up to the age of 7 to 18 months, but that period was followed by developmental inactivity and deterioration of brain functions among the females. After one and a half years, dementia, autism and motor skill inability were also found among the females (Hagberg et al., 1983). Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. (Zahorakova et al., 2007). Deceleration of growth has also been found among patients exhibiting Rett syndrome. Motil et al. (1994) concluded that the deceleration of growth was due to small difference in energy balance. A different study done on 170 affected females with Rett syndrome, varying in age, also confirmed a well-recognized phenotype among 75% of cases of Rett syndrome females (Hagberg, 1995). A study was done assessing whether individuals with Rett syndrome use their gaze intentionally. The experiment resulted in, of the seven children assessed, only one did not present predominance of fixations on the correct alternatives in any one of the tasks. One did well in all tasks. Six responded correctly...
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