Research Paper on Down Syndrome
"It was a glorious morning, the day after my second son’s birth. I was feeling vital, a little smug, if you want the truth, and peaceful. What could be better than to be the mother of two healthy children? Yet that peace was about to be shattered for many months. When the doctor came in my hospital room, his pleasantries did not prepare me for these words: 'Mrs. Ross, your baby has Down's syndrome." Bette Ross in her book Our Special Child: A Guide to Successful Parenting of Handicapped Children recalls when she was informed that her baby was not going to have a normal life.
Many families first heard about Down's syndrome in a similar way as Mrs. Ross. Down syndrome, also known as Trisomy or Mongolism, is a genetic disorder that results in different degrees of physical and mental retardation. John Langdon Down, and English physician, didn’t discover the syndrome that now bears his name until the late 19th century. His scholarly work that was published in 1866 earned him the recognition as the “Father” of the Down syndrome.
Dr. Down was the superintendent of an asylum for children with mental retardation in Surrey, England. Down Syndrome (DS) affects people of all ages, races, and economic levels. It is the most common chromosomal disorder. About 1 in 800 to 1,000 babies are born with Down syndrome. In her book Your Down’s Syndrome Child: Everything Today’s Parents Need To Know About Raising their Special Child DS Eunice McClurg emphasizes that “ Down’s syndrome occurs at the moment of conception.” Chromosomes are thread-like structures that are composed of DNA and other proteins. Human cells normally have 46 chromosomes that are arranged in 23 pairs. An extra chromosome on the 21st chromosome pair causes Down syndrome. The cells then have 47 chromosomes instead of 46. DS affects the brain, circulatory system, eyes, feet, hands, mouth, muscles, head, heart, intestines, joints, ligaments, lungs, the nervous system, nose, respiratory system, and the stomach. DS also causes heart disease. About 50% of people with DS have a higher chance of a heart attack. It also caused Alzheimer’s disease and roughly 25% of people with DS that are over the age of 35 will develop the clinical signs and symptoms of Alzheimer. It also causes Leukemia as people with the Syndrome have 15 to 20 times the risk of developing Leukemia. Down syndrome divides into three distinct types. First there is the most common type of DS known as Trisomy 21, which occurs 95 % of all Down syndrome cases. In Trisomy 21, the 21st chromosome pair does not split and the embryo receives three chromosomes on the 21st pair instead of two.
The second type of DS is known as Translocation and occurs 4% of all DS cases. Translocation and fused to another chromosome, usually chromosomes 14,19 or 22. Similarly to Trisomy 21, translocation only happens at conception. Maternal age is not linked to the risk of translocation. The third and most rare type of DS is known as Mosaicism. It only occurs when nondisjunction occurs after fertilization. These individuals have the right 23 pairs of chromosomes, but when the cells divide through mitosis, some show Trisomy.
An infant with DS has many physical characteristics. The most common traits are a low muscle tome, flat facial profile, small nose, upward slant to the eyes, abnormal shape of ears, hyper-flexibility, epicanthic folds, small skin folds on the inner corner of the eyes, and a huge tongue compared to the size of the mouth. A woman’s chance of giving birth to a child with Down syndrome becomes greater with age. The older a woman gets the more likely she’s bound to have a kid affected with the syndrome. The reason for that is because there is a greater chance that the chromosomes do not divide properly due to the fact that the woman’s eggs age. There is no medical cure for Down syndrome although research on the syndrome is making progress in identifying the genes on chromosome 21 that causes the characteristics of DS. Scientists hold the view that it is possible to improve, correct or prevent many of the problems that come with Down syndrome in the future. There are also many parent support groups for guardians or parents of a child with Down syndrome. In Minnesota there are several centers in Minneapolis and one in St. Paul not only for people with Down syndrome but for all kinds of people that are disabled.
Many families first heard about Down's syndrome in a similar way as Mrs. Ross. Down syndrome, also known as Trisomy or Mongolism, is a genetic disorder that results in different degrees of physical and mental retardation. John Langdon Down, and English physician, didn’t discover the syndrome that now bears his name until the late 19th century. His scholarly work that was published in 1866 earned him the recognition as the “Father” of the Down syndrome.
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Dr. Down was the superintendent of an asylum for children with mental retardation in Surrey, England. Down Syndrome (DS) affects people of all ages, races, and economic levels. It is the most common chromosomal disorder. About 1 in 800 to 1,000 babies are born with Down syndrome. In her book Your Down’s Syndrome Child: Everything Today’s Parents Need To Know About Raising their Special Child DS Eunice McClurg emphasizes that “ Down’s syndrome occurs at the moment of conception.” Chromosomes are thread-like structures that are composed of DNA and other proteins. Human cells normally have 46 chromosomes that are arranged in 23 pairs. An extra chromosome on the 21st chromosome pair causes Down syndrome. The cells then have 47 chromosomes instead of 46. DS affects the brain, circulatory system, eyes, feet, hands, mouth, muscles, head, heart, intestines, joints, ligaments, lungs, the nervous system, nose, respiratory system, and the stomach. DS also causes heart disease. About 50% of people with DS have a higher chance of a heart attack. It also caused Alzheimer’s disease and roughly 25% of people with DS that are over the age of 35 will develop the clinical signs and symptoms of Alzheimer. It also causes Leukemia as people with the Syndrome have 15 to 20 times the risk of developing Leukemia. Down syndrome divides into three distinct types. First there is the most common type of DS known as Trisomy 21, which occurs 95 % of all Down syndrome cases. In Trisomy 21, the 21st chromosome pair does not split and the embryo receives three chromosomes on the 21st pair instead of two.
The second type of DS is known as Translocation and occurs 4% of all DS cases. Translocation and fused to another chromosome, usually chromosomes 14,19 or 22. Similarly to Trisomy 21, translocation only happens at conception. Maternal age is not linked to the risk of translocation. The third and most rare type of DS is known as Mosaicism. It only occurs when nondisjunction occurs after fertilization. These individuals have the right 23 pairs of chromosomes, but when the cells divide through mitosis, some show Trisomy.
An infant with DS has many physical characteristics. The most common traits are a low muscle tome, flat facial profile, small nose, upward slant to the eyes, abnormal shape of ears, hyper-flexibility, epicanthic folds, small skin folds on the inner corner of the eyes, and a huge tongue compared to the size of the mouth. A woman’s chance of giving birth to a child with Down syndrome becomes greater with age. The older a woman gets the more likely she’s bound to have a kid affected with the syndrome. The reason for that is because there is a greater chance that the chromosomes do not divide properly due to the fact that the woman’s eggs age. There is no medical cure for Down syndrome although research on the syndrome is making progress in identifying the genes on chromosome 21 that causes the characteristics of DS. Scientists hold the view that it is possible to improve, correct or prevent many of the problems that come with Down syndrome in the future. There are also many parent support groups for guardians or parents of a child with Down syndrome. In Minnesota there are several centers in Minneapolis and one in St. Paul not only for people with Down syndrome but for all kinds of people that are disabled.
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