Down Syndrome Determination

Discovering you are pregnant with a child is supposed to be one of the best days of your life, but finding out your baby has the one extra 21st chromosome could change everything. Author and national correspondent for the New York Times, Amy Harmon, fights for children and families affected by the disease in her article, “Prenatal Test Puts Down Syndrome in Hard Focus.” Harmon recognizes in her article that raising a child with this disease is not easy. She provides evidence of this by including quotes and personal stories from parents and family members whose loved ones are affected by it. She illustrates a genuine passion for the growing number of parents that are “Convinced that more couples would chose to continue the pregnancies if they better appreciated what it meant to raise a child with Down syndrome”(Harmon). To better put it in perspective, an estimated 90% of women chose to have an abortion if they are given a positive diagnosis for Down syndrome.

Down syndrome occurs in people who were born with three, rather than two, copies of the 21st chromosome. This extra genetic material is what brings about the effects of Down’s syndrome. It is often characterized by an impairment of cognitive (process of thought) ability. Most people with Down syndrome have lower than average, mild to moderate, cognitive ability and this cannot be predicted at birth. A smaller number fall into the severe impairment range. Physically, people with Down’s syndrome are smaller in stature, have less muscle tone, and have noticeably different facial features. The number of these births occurs approximately in one out of every one thousand (ndss.org). As of 2007, the number of people in the United States with Down syndrome stood at about 350,000. These numbers will shrink because now (most) potential parents can know the condition of the fetus early. This information is included to let the reader relate to the struggles that some with Down syndrome goes through.

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

This experiment will explore the nature of salivary glands and if an increased quantity of salivary electrolytes is a direct correlation to Down syndrome. Down syndrome is an autosomal disorder caused by an extra chromosome twenty-one. Children with this syndrome show physical abnormalities such as, small hands and feet, poor muscle tone or loose joints, and shorter height than children and adults without the syndrome. Many dental characteristics are consistent throughout children with Down Syndrome. Dental abnormalities include the most important to this experiment, a low prevalence of dental caries that is tooth decay or cavities caused by abundance in dental plaque and bacteria in children with Down Syndrome. This increase in low caries can be attributed to reduced time of exposer to a cariogenic environment, congenitally missing teeth, and higher salivary pH. Recently, researchers have found that

The aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in reproduction do not separate properly this is when Down’s Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and leukemia (WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health.

The article “Down Syndrome” reviewed by Dr. Mary Gavin, thoroughly explains the causes, affects and diagnosis of the condition. This genetic condition involves the individual gaining an extra chromosome, ending up with 47 instead of 46. A person with Down syndrome facial and bodily features will be distinctly unique, making it easy to characterize them from others. Consistent medical attention is crucial for a child with the condition, even if the child appears to have no significant health concerns. With out proper care, the child could develop pulmonary hypertension, worsened vision and hearing, seizures, asthma, infections etc. Prenatal screening

Since a long time, individuals suffering from Down syndrome have been casually mentioned in passing within books, movies and science, to name a few. However, it was in the late nineteenth century that the English physician, John Langdon Down, wrote a revealing description of a Down syndrome patient in 1866. This led to John often being referred to as the ‘father’ of Down syndrome, who was the first one to write about the illness as a separate and unique entity (Morgan, Moni, & Jobling, 2004).

Genetic testing is a medical test that can find and identify changes in proteins, genes or chromosomes. Using a genetic test can confirm or deny a suspected genetic condition, as well as to help determine a person who is possible of carrying on a genetic condition.(NIH, 2016)

In 1862, John Langdon Down, an English physician, first described those with Down’s Syndrome as “mongoloids” as he believed those with the condition appeared visually similar to people within the Blumenbach’s Mongolian race (Dr Ananya Mandal, 2014). However, in the 1970s, the term Down’s Syndrome replaced mongoloids as it was inaccurate (Dr Ananya Mandal, 2014). During the 20th Century, people with Down’s Syndrome were commonly seperated from society and sent to institutions (Dr Ananya Mandal, 2014). In addition, those with Down’s Syndrome were forcefully sterilized during the 20th Century in an attempt to rid them from the disease (Dr Ananya Mandal, 2014). In 1959, Jérôme Lejeune, a French Pediatrist, discovered that people with Down’s Syndrome have an extra 21st chromosome (Dr Ananya Mandal, 2014). This is where the term Trisomy 21 derrived from which is another name for Down’s Syndrome.

There are three forms of Down Syndrome. These three are Trisomy 21, Mosaicism, and Translocation. Trisomy 21 is where there is an extra copy of Chromosome 21 in every cell. Mosaicism is where only some of the child’s cells have an extra copy of Chromosome 21. Translocation is where only one of the 46 total chromosomes has an extra Chromosome 21 where part of Chromosome 21 gets attacked to another chromosome during the formation eggs and sperm, or early in the development of the fetus. Mosaicism and Translocation usually have less symptoms that Trisomy 21. Only translocation Down Syndrome can be inherited by an unaffected parent. Trisomy 21 is because of an abnormality in the reproductive cells, and mosaic Down Syndrome is just a random event that occurs early in fetal development. A baby receives 23 chromosomes from each parent, but with a Down Syndrome child, they receive extra chromosomes. When the Chromosome 21 is supposed to split into two chromosomes, the chromosome does not separate properly and they get three Chromosome 21. So as the brain and physical features develop, problems occur. Down Syndrome affects 1 in 800 newborns. Each year in the United States, 5,300 babies with Down Syndrome are born, and 250,000 people have this condition in

Down syndrome, also known as Trisomy 21, is a genetic disorder. It is caused by an abnormality in the number of chromosomes. DNA (deoxyribose nucleic acid) chromosomes are originate in the cell and are comprised of genes, which decide hereditary traits (Epstein pg.199). If a person has an extra chromosome on chromosome number 21 out of 23 they will have Down syndrome. The extra chromosome may delay the growth of a child’s physical and mental development which may lead to mental retardation. Normally, a person has 46 chromosomes, and will receive 23 pairs of chromosomes from the mother and 23 from the father totaling 46. But someone with Down syndrome will have 47. Although many theories have been developed, it is not known what actually

Down Syndrome is, as a rule, not an inherited condition. Down Syndrome may be because of Trisomy 21, which alludes to the state of having an additional duplicate of chromosome 21, which means three duplicates, rather than two, in every cell. In these cases, the "chromosomal variation from the norm happens as an irregular occasion amid the arrangement of regenerative cells" ("Down Syndrome",2016). This event is conceivable in either egg cells or sperm cells, yet it is well on the way to happen in egg cells, and it is the event of non-disjunction, a mix-up in the division of a cell, that causes a regenerative cell to contain an odd number of chromosomes ("Down Syndrome",2016). In like manner, Mosaic Down Syndrome is not an inherited condition.

“Noo Why my baby,” this mother has just been given the news that her child has been diagnosed with Down Syndrome. Her child was one of many who will have trouble reading out loud or to even communicate. Who will grow up with not knowing if today will be a good day or not. Down Syndrome is just one case of genetic disorder. There are so many all over in the world and many doctors still don’t even know what to call them. Some don’t even know they have a disease in them till its too late, or other know all there lives and some learn to live with the disease and others live every day in fear of getting even more sick and hurt.

Down Syndrome affects many people, even those who don’t have it. Down syndrome is also called Trisomy 21. The term Down syndrome did not become the accepted term until the early 1970’s (“History of NADS”). Down syndrome is the most common genetic condition, almost 400,000 Americans have Down syndrome (“What Is Down Syndrome?”). When the 21st chromosome has an extra copy, full or partial, down syndrome will occur. With the extra genetic material it messes with the development physically and mentally. It also creates certain features connected with Down Syndrome. Some of the well known features are low muscle tone, small stature, upward slant to the eyes, and a single deep crease across the center of the palm (“What Is Down Syndrome?”). These features and their extent can vary from person to person, some may not even have any at all. One in every 691 babies born in the United States has Down syndrome, about 6,000 babies are born with Down syndrome each year in the United States (“What Is Down Syndrome?”). Just like the physical features the medical problems associated with Down syndrome vary from person to person, some may need a lot while others may need little to none. The health problem can be treated with the many resources available to help the people with Down syndrome and their families.