Downs's syndrome as a Congenital Birth Defect
explanatory Essay
747 words
Many children every year are with some sort of Congenital Birth Defect. In fact, according to an article written in Children’s Health on NBC News website, eight million documented yearly, suffering from some type of birth defect. A particular Congenital Birth Defect that relates close to home is Downs’s syndrome. My Aunt Carolyn was diagnosed with Downs’s syndrome at birth and has struggled in many ways growing up including but limited to her health, making friends, and learning disabilities The National Downs’s syndrome Society also known as NDSS, is a society that researches information on the birth defect of Downs’s syndrome and aims at informing others of the causes, symptoms, the three different types, how common it is, when it was discovered and by who, and what impact it has on society. The organization states that Downs’s syndrome occurs when an individual has full or partial extra copy of chromosome 21. Some general characteristics that The National Downs’s syndrome Society has recognized but not all diagnosed with Downs’s syndrome exhibit are low muscle tone, upward slant to the eyes small and arched palate, congenital heart disease and larger toes widely spaced. Stated in NDSS, recent studies state that one in 691 babies in the United States is born with Downs syndrome, making Downs syndrome the most common Genetic Condition. Approximately 4,000 Americans have Downs’s syndrome and about 6,000 babies are born in the United States yearly. Yearly studies have led to a broader knowledge of this Congenital Birth Defect, for example in the later years of the 19th century John Langdon Down published in a scholarly work a precise portrayal of an individual with Downs’s syndrome. Another, more recent researcher by the name of... ... middle of paper ... ... by attending school and being offered the chance to integrate with others who do not suffer from the same condition therefore they learn from them. In the article, The development of literacy skills in children with Downs’s syndrome: Implications for intervention, it is stated that the reading development skills have been linked to home and school influences on literacy development in Downs’s syndrome. In this particular article it also states that children facing this type of Congenital Birth Defect tend to perform better in the literacy skills when placed in mainstream schools, outperform their peers in special school in reading and language, and the time frame of enrolling them in school in there preschool years is a plus in their academics. Works Cited http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/ http://www.down-syndrome.org/reviews/2066/?page=1
In this essay, the author
- Explains that there are three types of downs's syndrome: trisomy 21, translocation, and mosaicism.
- Explains that the nation downs syndrome society does not say that down's syndrome is partial to a particular race or economic level. all three types of down syndrome are linked to genetic conditions, but they are not hereditary.
- Explains that the dedicated research on the congenital birth defect has improved the life span of those with the disability.
- Explains that one in 691 babies in the united states is born with downs's syndrome, making it the most common genetic condition.
Related
- explanatory
- argumentative
- The Genetic Disorder : Down Syndromeexplanatory essayDown syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature. (Glanzman, 2015 & Powell-Hamilton, 2012) The genetic disorder was named after the Physician John Langdon Down, who had originally in 1866 labeled those with the genetic abnormality as “Mongoloids”; Down indicated his choice of term for the children because of their appearance was allegedly similar to those from Mongolia and at the time it was believed that those who were of Mongolian decent were to have halted development. The derogatory name for those with the Chromosome 21 anomaly was changed over a hundred years later in the 1960’s when it was criticized by Asian scientists. The “Mongoloids” term was dropped from the scientific community while “Down’s syndrome” took its place; in the 1970’s Down’s was revised and became Down syndrome in the United States. There are still parts of the world where the condition is still known as Down’s. (Leshin, 2003). The purpose of this paper is to outline the pathology, etiology, medical treatments, physical limitations, and physical therapy interventions for those with Down syndrome.
In this essay, the author
- Explains that in down syndrome, non-disjunction of chromosome pair 21 is known as trisomy 21. the remaining 5% of cases are due to a crossing of genetic information.
- Explains that those with trisomy 21 or down syndrome are at higher risk for multiple system defects that impact both the structural and functional level.
- Explains that the deficits presented above may affect some individuals with down syndrome and not others, creating a variance in features and characteristics of those with trisomy 2.
- Explains that down syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature.
- Explains that trisomy 21 is the second most mapped human chromosome, but no cure for down syndrome exists. physical limitations manifest as weak muscle mass and motor development, and atlantoaxial instability.
1901 wordsRead More - Facts on Down Syndromeexplanatory essayThe presence of an extra chromosome is prevalent in plants but rare in animals. Diploid human cells contain 46 chromosomes, 44 autosomes and two sex chromosomes namely XX in females and XY in males. At mitotic metaphase, each of the chromosomes can be recognized by its size, shape and banding pattern. However, there could be non-disjunction of chromosomes during the process of meiosis, and as a result, one of the cells may receive an extra copy of the chromosome resulting in a condition called trisomy. One of the most common chromosome abnormality in humans is Down Syndrome, a condition associated with an extra chromosome 21. This condition was first described by British physician, Langdon Down (Web. Down Syndrome, n.d.).
In this essay, the author
- Explains that the presence of an extra chromosome is prevalent in plants but rare in animals.
- Explains that individuals with down syndrome are shorter in stature, have shorter necks, loose-jointed ankles and have broader skulls. they also have impaired mental abilities and require special training and care.
- Explains that down syndrome is a birth defect influenced by the age of the mother.
- Explains that down syndrome is one of the most prevalent chromosomal conditions. it was 15 per 10,000 births in 2004-2006.
- Explains that there is a 71 percent increase in the cases of down syndrome. women are more career-oriented and start families later in life.
- Explains that trisomy 21 is a result of chromosome non-disjunction in one of the meiotic cell divisions. congenital birth defects are difficult to treat but with the prevalence of down syndrome, numerous research projects are being carried out.
- Explains that certain cerebellar neurons are targeted to regulate the development of brain activity. the compound sag is used in the study.
- Explains that lc neurons are the chief site responsible for the neurotransmitter molecule norepinephrine synthesis.
- Explains that optogenetics is associated with the neural action control, and array tomography is based on anatomy and expression of proteins in brain, are exploited to investigate neurobiological utility, methods, actions and therapeutics.
- Explains that the project involves abnormal characteristics associated with sleep and brain rhythms. the motive is to understand if normal sleep pattern could enhance learning and memory.
- Explains that drug discovery- pentylenetetrazol or ptz minimizes inhibition present in neural connections and aids in re-establishing cognitive roles.
- Opines that there is still a long way to go for establishing the therapeutics of down syndrome and eliminating the associated predicaments.
- Explains that down syndrome is a genetic disorder caused by the autosomal non-disjunction of the 21 chromosome resulting in the condition called trisomy.
- Explains that the project balancing excitation and inhibition explores neural circuits responsible for memory and learning of the individual, using excitatory and inhibitory inputs. roche initiated phase-i clinical trials for a drug to deal with behavioral and cognitive discrepancies related to down syndrome.
1150 wordsRead More - Down Syndrome : A Chromosomal Disorderexplanatory essayDown syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives. Many people with Down syndrome attend school, go to work, and are able to have normal relationships, such as marriage.
In this essay, the author
- Explains that down syndrome is a disorder that delays the development of children. it is associated with weak muscle tone, short neck, flat facial profile, upward slant to eyes, and floppiness.
- Explains that there is no real cure for down syndrome, but there are countless therapies that can benefit each patient’s specific needs.
- Explains that down syndrome occurs when a baby is born with an extra chromosome in each of their cells.
- Explains that due to the slow growth and developmental problems of people with down syndrome, they are more susceptible to certain medical problems.
1211 wordsRead More - Special needs is a generic term used in a clinical diagnostic and functional development to describe individuals who require assistance for disabilities that may be a medical, mental, or psychological defect. Examples of disabilities include autism, Down syndrome, dyslexia, blindness and others. Statistics show that .14% of babies are born with Down syndrome, which is one in every 691 babies (Statistics of Children with SN). Although Down syndrome is a well-known problem and disability, professionals are trained to enforce verbal skills and symbolic play, as well as asking volunteers to participate in community involvement with special needs children.
In this essay, the author
- Explains that special needs is a generic term used in clinical diagnostic and functional development to describe individuals who require assistance for disabilities that may be medical, mental, or psychological.
- Explains that down syndrome has become the most recognizable form of mental disability in the world because of physical characteristics.
- Explains that many children develop verbal skills when they are toddlers, but this is not true when referring to down syndrome children. parents and teachers can assist children with ds by setting a goal to reinforce early communication, speech, and literacy skills.
- Explains john piaget's 1962 theory that children favored assimilation rather than accommodation during their play. down syndrome children require special attention because they cannot care for themselves.
- Describes how the miracle league of the triangle provides children with special needs an opportunity to participate in america's most loved game, baseball.
- Explains the national down syndrome society's mission to be the national advocate for the value, acceptance, and inclusion of people with down syndrome.
- Explains that down syndrome children and their participation in the community have become aware in north carolina and the united states. teachers and professionals are qualified to integrate play involvement in their classrooms.
- Describes de, falco s, gianluca esposito, paola venuti, and marc h. bornstein.
1368 wordsRead More - Trisomy 21: The Most Common Cause Of Down Syndromeexplanatory essayTrisomy 21 or more commonly known as down syndrome is a condition in which an individual has a full or partial extra copy of chromosome 21 (What is Down Syndrome?, 2012). It was first described as a disorder in 1866 by doctor John Langdon Down and it is the most common cause of cognitive impairment (Heyn, 2014). Today there are three known types of down syndrome trisomy 21 or called nondisjunction, translocation, and mosaicism. Regardless of the type of down syndrome a child may have, they all have an extra portion of chromosome 21 present and the cause is still unknown today (What is Down Syndrome?, 2012). With the cause unknown many people have misconceptions or don’t understand what down syndrome is. That is why I chose to research down
In this essay, the author
- Explains that trisomy 21 or more commonly known as down syndrome is a condition in which an individual has an extra copy of chromosome 21.
- Explains that people often can't tell the difference between the three types of down syndrome because the physical features and behaviors are similar.
- Explains that down syndrome results when abnormal cell division involving chromosome 21 occurs. the risk factors include the mother's maternal age and being carriers of genetic translocation.
- Explains that both the mother and father can pass the genetic translocation for down syndrome on to their children.
- Explains that there are two types of tests available to detect down syndrome during pregnancy, screening tests and diagnostic tests.
- Explains that the blood test looks for abnormal levels of plasma protein-a and human chorionic gonadotropin. the integrated screening test is done during the first and second trimesters.
- Explains the diagnostic tests that can identify down syndrome, including amniocentesis, chorionic villus sampling, and cordocentesis. physical traits and karyotype can be identified at birth.
- Explains that children with down syndrome share physical features such as a flattened face, almond-shaped eyes that slant up, short necks, small ears, protruding tongue, hands and feet, and low muscle tone.
- Explains that poor motor development can further affect cognitive development and the development of language skills. delays in mastering sentence structures and grammar and difficulties in developing clear speech can cause frustration for the children.
- Explains how a teacher's job is to make sure down syndrome students aren't pushed too hard and are comfortable learning environments. placing students at the front of the class is ideal for listening and visual skills.
- Explains that down syndrome children are the happiest children to be around many people have misconceptions or don't understand what it is. educators have the biggest impact on these students.
1360 wordsRead More - Factors in Down Syndrome Life Expectancy and the Relationship of Healthcare’s Advancementargumentative essaySince the discovery and categorization of Down syndrome as a separate disorder in the late nineteenth century, the life expectancy of children born with this genetic disorder has dramatically increased. As well, along this timeline, dramatic advances in science and medicine have also been observed. Specific research of Down syndrome as a separate disorder, in later research as a genetic and chromosomal disorder, has brought about increased understanding of this comparatively common birth defect. This increase in understanding, questions what advances in science and healthcare were and are currently leveraged to understand risk factors as well as detection and identification of the specific genetic malfunction. Additionally, what advancement in healthcare treatments and therapies were and are currently used to treat symptoms and affect quality of life and eventually culminate in the observed increase in life expectancy of Down syndrome individuals? This research paper examines these parallels and attempts to understand the links between them along a historical timeline.
In this essay, the author
- Analyzes how the discovery and categorization of down syndrome as a separate disorder in the late nineteenth century has dramatically increased the life expectancy of children born with this genetic disorder.
- Explains that down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.
- Explains that english physician john langdon down links a population with distinct physical characteristics to decreased intellectual ability and calls them "mongoloid."
- Explains that dr. spock suggests that babies born mongoloid should immediately be institutionalized based on the premise that if the infant exists at a level that is hardly human, it is much better for the other children and the parents to have him cared for elsewhere
- Narrates how amniocentesis is developed in the 1950s. dr. jerome lejeune discovers that being a "mongoloid" is the result of chromosomal abnormality.
- Narrates how mongolia requests to stop using the objectionable terms of "mongoloids" to describe people with trisomy 21. the world health organization accepts the name down syndrome (after john langdon down).
- Explains that down syndrome is first detected using amniocentesis, which is later abandoned due to health risks.
- Compares the iqs of children with down syndrome raised in institutions and those raised at home.
- Explains that women over the age of 35 should be offered prenatal testing for down syndrome.
- Explains how scientists map the smallest human chromosome, the 21. the consequences of the new information on the genes are elucidated.
- Explains that researchers begin a five-year sleep pattern study on children with down syndrome between the ages of 2-4 years old.
- Explains that the prevalence of down syndrome is increasing based on a review of data from 1979 – 2003.
- Explains that the national down syndrome society's timeline illustrates many advancements in medicine and healthcare that were involved with increasing the life expectancy of individuals with down syndrome.
- Cites the global down syndrome foundation's facts about down syndrome. the mayo clinic staff (2011).
1285 wordsRead More - Down Syndromeexplanatory essayThere are, however, genetic conditions that can vastly shorten and complicate the life of the afflicted individual. One such genetic disorder, and arguably the most well known, would be Down Syndrome – also known as DS, Down's, or Trisomy 21. Though it is unclear and unrecorded who the first person to acknowledge this condition is, the first doctor to view it as a mental disability and observe and record its effects was a man by the name of John Langdon Down – which is where it received its most common name. This disease spawns once in every one thousand live births, and is caused, like Triple X Syndrome, by an extra chromosome that forms during the mother's pregnancy. It is brought on by an extra copy of chromosome 21 forming, giving the child three – but unlike Triple X Syndrome, these changes do not go unnoticed. Screenings can determine early on if a fetus will or will not have Down Syndrome, and a large portion of such pregnancies are terminated. As of now, it is known that 90% of fetuses who have Down Syndrome are aborted. The remaining 10% have an estimated lifespan of fifty to sixty years if they a...
In this essay, the author
- Explains that human beings are born with 46 chromosomes, creating thirteen matching pairs, which determine gender, physical features, and mental health. however, there are instances where an individual has an extra copy of a certain
- Explains that down syndrome is the most well-known genetic disorder. it is caused by an extra chromosome that forms during the mother's pregnancy, and 90% of fetuses are aborted.
- Explains that children born with down syndrome have several physical traits that make them easily distinguishable, such as a flat nose, small mouth and ears, and slanted eyes.
- Explains that people with down syndrome have a higher risk of developing leukemia or testicular cancer than people who don't. solid cancers are less likely to form in an individual with chromosome 21, which also controls the genes that help in suppressing tumors
- Explains that people with down syndrome are allowed into public schools in their youth to interact with children at a normal stage of development to encourage their mental growth, but are placed in special education classes.
- Explains that although there will not be a cure for any genetic condition in the foreseeable future, it is becoming easier to care for the children who have them. recent advances in group therapy, special education curriculum, and medicines have made it possible for down syndrome children to lead happier, healthier lives with fewer complications.
708 wordsRead More - The Struggles Faced by Students With Down Syndromeexplanatory essayChildren with Down syndrome have a hard time in life. The effects on them, makes their life a struggle. Down Syndrome is a chromosomal abnormality and probably the most common genetic condition, occurs in about one in every eight hundred to one thousand live births or accounts for about 5 to 6 per cent of intellectual retardation. Down mainly affects their learning, social, walking, talking, dressing themselves and being toilet trained and behavior.
In this essay, the author
- Explains that down syndrome affects children's learning, social, walking, talking, dressing themselves, being toilet trained, and behavior.
- Explains that down's syndrome was given the label of mongolism due to the characteristics of it. students with the disorder are recognizable by their smaller overall stature, flat face, thick folds in the corners of their eyes, protruding tongues, and muscle hypertonia.
- Explains that vision and hearing issues present a lot in children with down syndrome. vision issues, like near- and far-sightedness, can be fixed with glasses.
- Explains that most students with down's syndrome are between the mild to moderate range of mental retardation. however, not all areas of development are equally affected.
- Explains that down syndrome students suffer from serious problems such as hearing problems and articulation problems. social development includes interactive skills with other children and adults, friendships, play and valuable skills, personal and social independence and appropriate behavior.
- Explains that black people with down syndrome are more than 7 times more likely to die than white people.
- Opines that children with down's should get their shots to prevent colds and ear infections. researchers found a way to copy the natural way the body turns off one of the two x chromosomes.
- Explains that down syndrome is one of the most common genetic birth defects in the united states.
- Explains that although there are more or less of girls and boys who have down syndrome, it is distributed equally.
661 wordsRead More - Genetic Disorders: Down Syndromeexplanatory essayDown syndrome is different in every patient from mild to severe but the most common physical signs are low muscle tone, extra skin around the neck, a flattened nose, a single crease in the palm, small ears, small mouth, eyes that are slanted upward, hands that are wide but short fingers, and have brushfield spots (PubMed Health). The National Down Syndrome Society has listed many complications that can occur with Down syndrome patients, for example, individuals with the disorder and are diagnosed with attention deficit hyperactivity disorder have not been proven enough to be said it is very common for children to have ADHD while diagnosed with Down syndrome, but they do show symptoms. The most common complications
In this essay, the author
- Explains that down syndrome is different in every patient from mild to severe, but the most common physical signs are low muscle tone, extra skin around the neck, a flattened nose, small ears, and mouth.
- Explains that the national down syndrome society lists heart problems as a common complication for children with the disorder.
- Explains that most cases of down syndrome are caused by trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.
- Explains that down syndrome is the most common cause of birth defects in the united states. future parents who are afraid of transmitting the disorder to their offspring should know there is no real risk.
- Explains that the eunice kennedy shriver national institute of child health and human development has listed some of the information about treatment and ways the disorder down syndrome can be managed throughout the person's life.
- Explains that since down syndrome is a problem with the chromosomes, and there are no cures for it, scientists are working to develop mouse models to enhance their basic understanding of the condition.
- Explains that the hardy-weinberg equation is p2+2pq+q2=1 — the frequency for down syndrome is one out of 691 in the general population.
1168 wordsRead More - Downs Syndrome Research Paperexplanatory essayDown syndrome is usually caused by an error in cell division when there is an extra chromosome 21 in the nucleus. The error occurs during the formation of the egg and sperm. This error is called a nondisjunction error. Usually when a cell divides into two, the chromosomes split and go into different cells. In the case of Downs Syndrome the cell goes into the same cell. So there are extra copies of chromosome 21. It is not know why this happens and it may come from the mother or the father. In 90% of cases the extra chromosome comes from the mother while in 4% of the cases the chromosomes come from the father. In the rest of the cases of Down Syndrome the non-disjunction error occurs after fertilization. Downs can also be inherited from the mother or father and not be a non-disjunction error. However that is very
In this essay, the author
- Explains that people with d.s have a higher risk of obesity due to their short stature and body composition. they may also learn to sit, stand and walk later than normal people because they have decreased muscle tone.
- Explains that some children with down syndrome may attend regular schools, but special schools are ideal and equipped to meet their specific needs. parents work together with teachers and others to come up with a plan for each child's learning.
- Explains that downs syndrome is not an illness or disease, it is a genetic condition, and there are ways to manage its effects.
- Explains that there is no cure for down syndrome at the moment, but providing support and treatment for a patient with down syndrome can improve their quality of life.
- Explains that 95% of down syndrome is not inherited. it is caused by a mistake in cell division during the development of the egg, sperm or embryo.
- Explains that most people with d. s have mild to moderate intellectual disability. they have short attention span, poor judgement, behavior that is impulsive, and slow in learning.
810 wordsRead More