Rett Syndrome Research Paper
Rett Syndrome: Important to Diagnose
Imagine this, you are enjoying the Christmas holiday at your grandparents with your aunts, uncles, and cousins. You think nothing of it because it is a completely normal thing to do. This is the first year all of my cousins were together in about three years. I introduced my boyfriend, Devin, to my other cousins he hadn’t met yet. As we were talking, I grabbed a plate of snacks when my five year old cousin walks up to me. She did not say anything just stared at me as she rocked back and forth and clapped her hands. I smiled down at her and asked if she was hungry. Still she just looked at me smiling, while clapping her hands. Instinctively I grab a chip and some dip off of my plate and feed it to her. …show more content…
In simpler terms it causes problems in brain functions responsible for cognitive, sensory, emotional, motor and autonomic function. This includes learning, speech, sensory sensations, mood, movement, breathing, and even chewing, swallowing, and digestion. Rett Syndrome is very commonly misdiagnosed as autism, because of their similar symptoms. According to the Encyclopedia of Women’s Health by Christine Ammer, Rett’s disorder is related to autism and that is why it’s so easily mistaken. This disorder can be present with a wide range of disability ranging from mild to severe. It is hard to diagnose because development seems normal up until four to eighteen months of life, but then it slows down and eventually development regresses backwards. “It occurs worldwide in 1 of every 10,000 female births, and it is found in all racial and ethnic groups throughout the world,” states rettsyndrome.org’s article “What is Rett Syndrome.” Eventually mental retardation develops, usually severe, and the patient will require full-time care …show more content…
This gene makes a protein that is believed to play a pivotal role in turning off or regulating the activity of other genes. The mutation causes the turn off/regulatory mechanism to fail, allowing other genes to function abnormally. Rett Syndrome is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a very dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How these mutations lead to Rett Syndrome is not well understood, but it is the focus of intense research now.” Since Retts is caused by a mutation on the X chromosome it is more commonly found in girls because they have two X chromosomes versus males only having one (XX versus XY). My cousin, Estelle’s doctor told her parents they are not one hundred percent sure what causes Rett Syndrome, but they said it was nothing they did as parents. Something went wrong, some mutation on the X chromosome caused it. Not that it makes them feel any better, but the doctor said there is research being done to figure out what causes
Imagine this, you are enjoying the Christmas holiday at your grandparents with your aunts, uncles, and cousins. You think nothing of it because it is a completely normal thing to do. This is the first year all of my cousins were together in about three years. I introduced my boyfriend, Devin, to my other cousins he hadn’t met yet. As we were talking, I grabbed a plate of snacks when my five year old cousin walks up to me. She did not say anything just stared at me as she rocked back and forth and clapped her hands. I smiled down at her and asked if she was hungry. Still she just looked at me smiling, while clapping her hands. Instinctively I grab a chip and some dip off of my plate and feed it to her. …show more content…
In simpler terms it causes problems in brain functions responsible for cognitive, sensory, emotional, motor and autonomic function. This includes learning, speech, sensory sensations, mood, movement, breathing, and even chewing, swallowing, and digestion. Rett Syndrome is very commonly misdiagnosed as autism, because of their similar symptoms. According to the Encyclopedia of Women’s Health by Christine Ammer, Rett’s disorder is related to autism and that is why it’s so easily mistaken. This disorder can be present with a wide range of disability ranging from mild to severe. It is hard to diagnose because development seems normal up until four to eighteen months of life, but then it slows down and eventually development regresses backwards. “It occurs worldwide in 1 of every 10,000 female births, and it is found in all racial and ethnic groups throughout the world,” states rettsyndrome.org’s article “What is Rett Syndrome.” Eventually mental retardation develops, usually severe, and the patient will require full-time care …show more content…
This gene makes a protein that is believed to play a pivotal role in turning off or regulating the activity of other genes. The mutation causes the turn off/regulatory mechanism to fail, allowing other genes to function abnormally. Rett Syndrome is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a very dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How these mutations lead to Rett Syndrome is not well understood, but it is the focus of intense research now.” Since Retts is caused by a mutation on the X chromosome it is more commonly found in girls because they have two X chromosomes versus males only having one (XX versus XY). My cousin, Estelle’s doctor told her parents they are not one hundred percent sure what causes Rett Syndrome, but they said it was nothing they did as parents. Something went wrong, some mutation on the X chromosome caused it. Not that it makes them feel any better, but the doctor said there is research being done to figure out what causes