Discovery of Down Syndrome and Its Symptoms - Essay Example

Those suffering from the syndrome are easy to recognize as the disorder manifests itself in several physical ways, altering the outward appearance of those suffering from it. They tend to appear short and heavy, and the rear of their heads appear quite flat (Margulies 4). John Langdon Down, the British physician who first described the syndrome in 1866, writes that “when placed side by side”, those with DS appear to be “members of the same family” (qt. in Margulies 4).

The health complications often associated with DS include heart defects, cognitive impairment, dysmorphic features, and craniofacial abnormalities (Rachidi & Lopes). It is estimated that DS is responsible for about 30% of all serious cases of mental retardation (MR), making it the most common genetic cause of MR (Rachidi & Lopes).
Discovery of DS

DS may have existed in humans since the very beginning. In earlier times, those with DS were often grouped with people having mental illnesses and intellectual disabilities (Margulies 6). However, as medical knowledge grew, better distinctions were made between those with mental illnesses such as mania and those with intellectual disabilities like MR. The correct identification of Down syndrome is accredited to British physician John Langdon Down, who is responsible for the identification and discovery of the syndrome in 1886.

Down made crucial observations on his patients, and identified a particular group of patients having similar mental and physical characteristics that are now associated with DS (Bowman-Kruhm 11; Margulies 8). He published his findings in a scientific paper, in which he did not name the condition as Down syndrome, but instead called it “Mongolism” as he theorized that those suffering from the condition had physical similarities with the Mongols (Margulies 8). 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 to 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 a reduction in intelligence quotient (IQ) from early infancy to late childhood (Rachidi & Lopes). They experience a 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 aging. 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 noses, 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 epicanthic fold (Griffith, Moore, and Yoder 270). Apart from these, they also often suffer from gastrointestinal and heart defects.

Conclusion

Some patients with DS are found to possess normal intelligence, while most others suffer from intellectual deficiencies (Margulies 5). They usually tend to be affectionate, gentle, happy, and friendly, and often have emotional and mental similarities apart from physical similarities with one another (Margulies 5). The abnormalities suffered by these patients are because of the extra chromosome that results from an error in the copying of the genetic material during the transfer from parent to offspring. Many risk factors have been identified for the disorder, the most common of which is the age of the mother. The older a pregnant woman is, the more the chances of DS in the offspring. In the case of those with a family history of DS or in cases where the pregnant woman is over 40 years of age, genetic counseling is often provided as a means of prevention (Griffith, Moore, and Yoder 270). The condition is usually diagnosed at birth. Special learning programs and other learning supplements are provided for patients with DS to help them to develop up to their full potential. Read More