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Down Syndrome - Essay Example

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This paper will discuss the Down Syndrome. Down syndrome (DS) is a genetic disorder that hampers the mental and physical development of those afflicted. …
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Download file to see previous pages Down believed that those suffering from the condition could lead a better life if given a chance (Bowman-Kruhm 11). The condition came to be referred as Down syndrome in the early 1960s (Margulies 8). Dr. Jerome Lejeune and Patricia Jacobs, in 1959, identified the link between DS and the presence of an extra chromosome (Bowman-Kruhm 12). Symptoms Those suffering from DS exhibit both physical abnormalities as well as health complications. They have delayed cognitive development during early infancy, leading to mental retardation and reduction in intelligence quotient (IQ) from early infancy to late childhood (Rachidi & Lopes). They experience deficiency in speech and language production. The low IQ persists in adulthood and is coupled with a decline in cognition, which is a result of accelerated ageing. By the fourth decade of life, there is often an early onset of neurohistopathology, resembling Alzheimer’s disease (Rachidi & Lopes). Patients with DS have deficient spatial learning, behavioral defects, and memory deficits due to development and functional impairments in neurogenesis, myelination, synaptogenesis, etc. in the brain (Rachidi & Lopes). Patients with DS often have some or many of the commonly recognizable traits commonly associated with the condition. They lack normal muscle tone, giving them a “floppy” appearance (Griffith, Moore and Yoder 270). The head is often abnormally shaped, with an unusually shaped skull. They also have unusual facial features such as flattened nose, large tongues, small mouths, abnormally shaped ears, broad hands with large palm creases, and slanting almond shaped eyes with an abnormal iris...
Those suffering from DS exhibit both physical abnormalities as well as health complications. They have delayed cognitive development during early infancy, leading to mental retardation and reduction in intelligence quotient (IQ) from early infancy to late childhood (Rachidi & Lopes). They experience deficiency in speech and language production. The low IQ persists in adulthood and is coupled with a decline in cognition, which is a result of accelerated ageing. By the fourth decade of life, there is often an early onset of neurohistopathology, resembling Alzheimer’s disease (Rachidi & Lopes). Patients with DS have deficient spatial learning, behavioral defects, and memory deficits due to development and functional impairments in neurogenesis, myelination, synaptogenesis, etc. in the brain (Rachidi & Lopes).
Patients with DS often have some or many of the commonly recognizable traits commonly associated with the condition. They lack normal muscle tone, giving them a “floppy” appearance (Griffith, Moore and Yoder 270). The head is often abnormally shaped, with an unusually shaped skull. They also have unusual facial features such as flattened nose, large tongues, small mouths, abnormally shaped ears, broad hands with large palm creases, and slanting almond shaped eyes with an abnormal iris (Griffith, Moore and Yoder 270). It is also observed that the inner corner of the eyes in patients with DS has a rounded fold of skin called the epicanthial fold (Griffith, Moore and Yoder 270). Apart from these, they also often suffer from gastrointestinal and heart defects.
Some patients with DS are found to possess normal intelligence, while most others suffer from intellectual deficiencies (Margulies 5). ...Download file to see next pagesRead More
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