An introduction to the medical genetic condition down syndrome. The down s syndrome handbook down syndrome, also called trisomy 21 is the most common cause of mental retardation and malformation in a newborn. An overview of the chromosomal abnormality, down syndrome. One can take an argumentative stance on this disease, arguing that more should be done now to either prevent down syndrome or to help children or adults who have it. Down syndrome simple english wikipedia, the free encyclopedia. The issues families confront need to be recognised and addressed by policy makers. Two topics covered particularly well are the diagnosis and prognosis aspects of down syndrome. Definition down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. Down syndrome can yield fascinating research papers. A common birth defect that is usually due to an extra chromosome 21. This extra genetic material causes the developmental changes and physical features of down syndrome. Down syndrome ds is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions.
Down syndrome, also known as trisomy 21, occurs when a child is born with three copies chromosome 21, as you can see in figure 1. Instead of the usual 46 chromosomes, a person with down syndrome has 47. The physical features of down syndrome were first described in 1866 by british physician john langdon down. The average iq of a young adult with down syndrome is 50, equivalent to the mental age of an 8 or 9yearold child, but it truly depends on the person. So, you are about to start writing a down syndrome research paper.
Some of the terminology used is a bit more technical than in the other general sources, but the article as a whole is very readable and logically divided. Down syndrome characteristics, diagnosis, prognosis, treatment. The downs syndrome handbook down syndrome, also called trisomy 21 is the most common cause of mental retardation and malformation in a newborn. Down syndrome definition is a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in cognitive functioning, short stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 called also trisomy 21. This view was based on a number of factors such as the tendency of people with an intellectual disability not to report pain in potentially harmful situations and from. Ds individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. At the adult down syndrome center, we strive to address the health of the whole person. Down syndrome causes mental retardation, a characteristic facial appearance, and multiple malformations. This book is a blessing for parents and they are in debt to rekha ramachandran for the immense relief and succor brought about by it. Other conditions seen less frequently in down syndrome include leukemia, and seizures. Three types dsaco down syndrome association of central. Down syndrome definition and meaning collins english.
Down syndrome ds or dns, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Ds is associated with number of phenotypes including congenital heart defects, leukemia, alzeihmers disease, hirschsprung disease etc. It is characterized by intellectual disability, dysmorphic facial features, and other distinctive phenotypic traits. For example, there may be a delay in learning to talk. An overview of the down syndrome in britain during the 1981. March 21, 2006 became the first world down syndrome day. While a selection is presented here, it is envisages that information pertaining to other specific syndromes will be presented in future. The birth prevalence of down syndrome in canada excluding quebec has been stable in the last decade, averaging 15. Down syndrome nearly 5,000 babies are born with down syndrome in the united states each year. Each person inherits 23 chromosomes from their mother and 23 chromosomes from their father.
The first 18 months dvd or video early communication skills in children with down syndrome. In down syndrome, there is an extra chromosome 21, resulting in 3 instead of 2 chromosomes. A one sentence definition of down syndrome prefaces the text of the article. Straight talk about mental retardation, down syndrome, and life down syndrome. In this rare form of down syndrome, a person has only some cells with an extra copy of chromosome 21. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia partially undeveloped intestines, and a. Epidemiology of down syndrome emory genetics emory university. Children with down syndrome are known for their happy attitudes, loving spirits, and playfulness. Our facility gives us the opportunity to teach, share with, and learn from people with down syndrome and their families in all aspects of health physical, mental, and social. The underlying cause of the condition is a trisomy a triple set of chromosomes. Down syndrome research paper hannas english portfolio.
Instead of the usual 46 chromosomes present in each cell, lejeune observed 47 in the cells of individuals with down syndrome. Maybe you have a great memory and do not need to write things down to remember them. Down syndrome is a chromosomal condition in which an individual possesses extra genetic material, specifically an extra complete or partial duplicate of chromosome 21 in some or all of an individuals cells. Down syndrome occurs about once in every 800 births. It occurs because of the presence of an extra 21st chromosome. Learn more about the types, symptoms, and diagnosis of down syndrome. The average iq of a young adult with down syndrome is 50, equivalent to the mental ability of an 8 or 9yearold. May 18, 2020 down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability.
Although the syndrome had been described thous ands of. Browse essays about down syndrome and find inspiration. Nondisjunction occurs during the reduction of chromosomes, from 46 to 23. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization. Approximately one in every 700 babies in the united states is born with down syndrome about 6,000 each year. Ds is associated with number of phenotypes including congenital heart defects, leukemia, alzeihmers disease. The center for disease control estimates that each year about 6,000 babies in the united states are born with down syndrome.
This results in several hallmark characteristics and acute cognitive affects. Down syndrome synonyms, down syndrome pronunciation, down syndrome translation, english dictionary definition of down syndrome. Down syndrome ds is a genetic disorder originated during the meiotic process, produced by the copy of chromosome 21, causing a trisomy that affects the way in. Down syndrome occurs when a baby is born with an extra chromosome 21.
The cau of down syndrome, also known as trisomy 21, was discovered in 1959. Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. Down syndrome, which is also called trisomy 21, is rather a common chromosomal disorder. Down syndrome, named after john langdon down, the british physician who described the syndrome in 1866. Down syndrome definition and meaning collins english dictionary. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. Down syndrome is not linked to race, nationality, or socioeconomic levels.
Down syndrome is the most commonly occurring chromosomal condition. The causes and effects of down syndrome essay example. Down syndrome sometimes called downs syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name, trisomy 21. Down syndrome definition of down syndrome by medical dictionary. Down syndrome ds is a birth defect with huge medi cal and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic dis ease worldwide and the common genetic cause of inte llectual disabilities appearing in about 1 in 4001500 newbo rns. Down syndrome is the commonest autosomal chromosomal anomaly with an incidence of 1 in 800 to. They are people with abilities, strengths and weaknesses like everyone else. The rate of down syndrome among stillbirths remained relatively stable around 31. Jul 30, 2015 the children with down syndrome were able to identify emotions and pain similar to children without down syndrome, especially when using the faces scale. The sess is aware that there is a wide range of assessed syndromes. One such example is that a parent being a carrier of the genetic. The most common cause of having a ds babies is pres ence extra copy. The world health organizations definition of health is a goal for our approach.
Downs syndrome usually occurs because of a chance happening at the time of conception. The incidence of births of children with down syndrome increases with the age of the mother. Until recently, the commonly held view was that individuals with intellectual disability have decreased sensitivity to pain e. Pdf down syndrome ds, or trisomy 21, is one of the most common. This takes place when, during meiosis, an egg with 22 chromosomes and a cell with 24 chromosomes are made. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features.
Down syndrome issues and information overview living with down syndrome sue buckley summary people with down syndrome, whatever their age, are people. Down syndrome or at least improve the quality of life for those who have it. Down syndrome occurs in people of all races and economic levels. Introduction to downs syndrome compiled by claire fisher, with contributions by the parents of wddssg downs syndrome is a genetic condition downs syndrome is caused by an extra copy of chromosome 21. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. Down syndrome definition of down syndrome by the free. It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. The authors found that although participants better understood the faces. Some of the problems commonly faced by people with down syndrome include heart defects, thyroid, muscle, joint, vision and hearing problems. It is this additional genetic material that alters the course of. The syndrome was first described by john langdon down in 1866.
Three types dsaco down syndrome association of central ohio. Just because the child with down syndrome may look different doesnt mean he she has no feelings. Or, one could take the informative approach, if you are assigned an informative essay, and inform your audience about down. Down syndrome inclusion support service contact details down syndrome victoria ph. A congenital disorder caused by the presence of an extra 21st chromosome and marked usually by moderate to severe intellectual. Does a child with down syndrome get along well with other children. The causes and effects of down syndrome essay example bartleby. Down syndrome, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21. It was first described 1866 and is named after john langdon down, the doctor who first identified the syndrome. Down syndrome chromosomes down syndrome, also known as trisonomy 21, is a disorder that occurs when an extra chromosome is present on the 21 st chromosome. This is the presence of extra genetic material on the 21st pair of chromosomes. Jun 11, 2015 down syndrome ds is one of the commonest disorders with huge medical and social cost. A perfectly healthy mother could have a down syndrome baby even though there was never any sign of the disorder in her pedigree.
Rekha ramachandran rekha uses simple, hard hitting words to highlight what she felt as she kept learning about the treatment for down syndrome. Find out the type, causes, and kinds of effects it can have. Trisomy 21, the most common type of down syndrome, occurs when there are three, rather than two, number 21 chromosomes present in every cell of the body. Down syndrome chromosomes down syndrome, also known as trisonomy 21, is a disorder that occurs when an extra chromosome is present on the 21 s.
Learn by example and become a better writer with kibins suite of essay help services. Down syndrome definition of down syndrome by merriamwebster. There are however, three different kinds of down syndrome. People with down syndrome have an extra chromosome that impacts how a person looks and their ability to think, learn, and reason. Down s syndrome ds was first described in detail by an english doctor, john langdon down, in 1866. A guide for parents and professionals fine motor skills in children with down. Down syndrome ds is one of the commonest disorders with huge medical and social cost. Down syndrome definition of down syndrome by medical. People with down syndrome can have physical problems, as well as intellectual disabilities. People with down syndrome have an extra copy of chromosome 21, or part of it. Learn more about the types, symptoms, and diagnosis of. A syndrome means a group of recognisable characteristics occurring together. It occurs because of the presence of an extra chromosome.
Down syndrome center for parent information and resources. Definition down syndrome ds is the most common cause of mental retardation and malformation in a newborn. In the majority of cases, downs syndrome is not an inherited condition. You may learn a little slower, or you may find it hard to learn. Faces and a numerical rating scale, to 106 adults with down syndrome. Most people with down syndrome learn things more slowly. Down syndrome characteristics, diagnosis, prognosis, treatment 1. We suppose that you do not really want to go deep into genetics and. Down syndrome ds is a genetic disorder originated during the meiotic process, produced by the copy of chromosome 21, causing a trisomy that affects the way in which the physical and cognitive.
The older the mother, the higher the risk of trisomy 21. Downs syndrome is caused by the presence of an extra chromosome in a babys cells. It occurs most frequently in children born to mothers over age 35. Causes, symptoms and risks down syndrome is the most common genetic condition in the united states. People with down syndrome often learn in different ways. It is a congenital condition which randomly affects about 1 in every 700 babies born throughout the world, male and female alike. Down syndrome trisomy 21 causes, symptoms and diagnosis. Down syndrome surveillance in canada 200520 canada. The national institutes of health research plan on down syndrome. Ds individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a. People with the syndrome may also have other health problems.
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