The Global Down Syndrome Foundation Is a public, non- profit organization that is a resource for Down syndrome and is involved in research medical care an education and advocacy of people with the condition. The organization provides information on the history of the condition including revolutionary genetic testing and advances in testing. The foundation also provides resources for pregnant mothers, families, medical personnel and educators.
The foundation provides detailed history about the syndrome, history, statistics and advances in genetic testing . Down Syndrome was named after John Langdon down, an English doctor, who classified Down syndrome features. Down Syndrome is a congenital genetic disorder, characterized by three copies
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Pregnant women of advanced maternal age, during routine prenatal care, are offered genetic screening and testing for chromosomal anomalies. Misconceptions exist with genetic testing. Many women are misinformed about the risks of testing. The fear of testing, implications, results and miscarriage exists in many women. The Global Down Syndrome Foundation and the National Down Syndrome Congress in an effort to provide comprehensive information to women, created the Down Syndrome Prenatal Testing Pamphlet., a commonly used resource. Risks are generally associated with advanced maternal age, already having a child with the condition and being carriers of the genetic translocation for down syndrome. The global Down syndrome foundation addresses common misconceptions surrounding people with down syndrome relating to their physical and mental capabilities, and early demise. Common misconceptions affecting the family unit listed and addressed by the foundation include the potential of a ruined marriage and potential for down syndrome children to negatively impact siblings. Patient education and informed consent are required before genetic testing can
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the
The National Association for Down Syndrome is governed much like a traditional corporation, with a board of directors and staff members, although it is a nonprofit. "NADS is the oldest organization in the country serving individuals with Down syndrome and their families. It was founded in Chicago in 1961 by parents who chose to go against medical advice and raised their children with Down syndrome at home" (About NADS, 2012, NADS). From its inception, NADS was designed to provide support for parents of children with Down syndrome and their offspring. Its key stakeholders are parents and children, and it strives to educate the larger community about the disorder and to cultivate community resources to better enable parents to raise their children in a supportive and loving environment that caters to the children's special needs. Information-gathering and dissemination, support, and advocacy on a national and local level are all part of the organizations' mission.
Down syndrome occurs in approximately 1 out of every 700 babies born in the United States (“Facts About Down Syndrome,” 2014). As a result, the level of awareness is not as high as that of disabilities that are more common. This campaign caters not only to the active publics, which would include parents and close members of someone with Down syndrome, but also aroused publics, who recognize and care about the issue at hand, but are not as knowledgeable about Down syndrome.
Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss)
“According to the Centers for Disease Control and Prevention, one in 700 babies within the United States is born with Down syndrome. This makes Down syndrome the most common chromosomal condition, and about 6,000 babies with Down syndrome are born in the United States each year. In 1866 down syndrome was described as a disorder but there was no evidence on what caused it. Later in 1959 it was discovered that down syndrome was a genetic disorder that it was mostly known for delays in cognitive development. Down syndrome can lead to mild or moderate learning disabilities, unique facial characteristics, and low muscle tone in infancy.” Although here is no cure for Down syndrome the way we can help is by giving them the education and proper care so that they will have endless opportunities.
of babies born with Down syndrome elevated by about 30 percent. The risk of a child having
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
Down syndrome is a congential disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy ( trisomy - 21 ). In every cell in the human body there is a nucleus, where is genetic stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped rod-like structures called chromosomes. This additional genetic material alters the course of development and causes the characteristics associated with down syndrome. Many people misunderstand down syndrome as much as they misunderstand the people affected by the disorder even though not knowing the real causes,types, symptoms and anything that has to do with down syndrome.The most common form of down syndrome is known as trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. Trisomy 21 accounts for 95% of down syndrome cases, with 88% originating from nondisjunction of the mother’s egg cell and the remaining 5% of down syndrome cases are due to conditions called mosaicism and translocation which those are the three types of down
Following several technical and medical advances and breakthroughs in the twentieth century, in 1959 French physician Jerome Lejeune identified Down Syndrome as a chromosomal abnormality. It was noted that there was 47 chromosomes in the cell of an afflicted person versus the normal 46. It was later determined that there was a third chromosome 21, called trisomy-21 (figure 1). Down Syndrome occurs in about 1 in every 800 to 1000 births and has affected more than 350,000 lives in the US alone It is caused by the extra chromosome 21 when an embryo has three copies of chromosome 21. Ninety-five percent of the time this is caused by disjunction during cell division. Due to younger women’s higher fertility rate, 80% of Down Syndrome babies are born to women under age 35. However, the chances of having a Down Syndrome baby increases with age of the parents.2 The phenotypes, or symptoms, of a Down Syndrome face are as follows: low muscle tone (weak muscle structure), small nose, flat face, slanted eyes (upward) and abnormally shaped ears (figure 2)
Down syndrome, also known as Trisomy 21, was first discovered in 1959 by a French physician named Jérôme Lejeune. He identified down syndrome as a chromosomal condition after noticing that there was a extra copy of chromosome 21 in the individual. Chromosomes are small “packages” of genes that carry hereditary information. They determine how a person will look, how their body functions, and traits they will carry. Normally, the human body contains exactly 46 chromosomes but when down syndrome occurs, the child has 47 chromosomes in the cell.
Down syndrome is a genetic disorder that showcases mental and physical symptoms, where both develop at a slower rate compared to others who do not have Down syndrome. “One of every 700-900 babies born worldwide will have Down syndrome”
Down syndrome is sometimes called trisomy 21. This results from a chromosome disorder that results in an extra chromosome or a part of a third chromosome within the cells of a person (Blackman, 1990). “It was first identified by John Langdon Down in 1866” (Carr, 1995, p.1). Down syndrome causes learning disabilities, developmental delays, and health problems that can be very severe.
To begin ,Down syndrome is a chromosomal disorder that results when a person inherits all or part of an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are unknown. The most common chromosomal abnormality that produces Down syndrome (accounting for 95% of all cases) is Trisomy 21, a defect in which an extra, third copy chromosome is present in every cell in the body. According to Parenting Magazine the number of Down syndrome births is relatively low for 18-yr-old mothers—1 in about 2100 births. In the later childbearing years the risk in creases—1 in 1000 births for 30-yr-old women to 1 in about 100 births for 40-yr-old women. Two other chromosomal abnormalities cause Down syndrome and occur in about
According to “https://www.ncbi.nlm.nih.gov/m/pubmed/18534234/” in 2004 were calculated the used of the medical care related to inpatient admissions, outpatient services, and prescription drug claims for children with down syndrome and childrems without Down syndrome. In 2004 costs for infants and children with Down syndrome were $36,384 however, the regular medical costs were $11,164. Median medical cost for children with down syndrome between 0-4 years old were 12-13 times even more expensive that children without down syndrome. Down syndrome affect the U.S health system cost because the persons with down syndrome need to be seen constantly by a doctor to see how much progress the persons have been make it and all that process are more expensive and it required more money than a persons without down syndrome. That means that U.S health system need more money and the government should provide more money to those who have down syndrome not only to those with down syndrome's to all the Health system as well. As we can see the treatment for many disease and some chronic disease are getting more expensive. It should be good that those person with down syndrome get more facility like medication and treatment. The reason why they should get more facility is because to have a child with down syndrome is not easy after all for the simple fact you have to be
Down’s syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down’s syndrome can vary widely from child to child. While some children with Down’s syndrome need a lot of medical attention, others lead healthy lives. Though Down’s syndrome can 't be prevented, it can be detected before a child is born. The health problems that may go along with Down’s syndrome can be treated, and many resources are available to help children and their families who are living with the condition. (http://kidshealth.org)