Introduction 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.
Symptoms
Children and adults with Down syndrome have very distinct facial appearances. Babies with Down syndrome may be average sizes at birth, but as they grow you can truly see the delays. They remain smaller than children their age and throughout learning how to crawl and walk it may take them twice as long as children who do not have any disability
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Children who have a lower immune system to fight of infections are especially at risk for respiratory infections. Issues due to the distinctive appearances associated with Down syndrome, like upward slant eyes, contribute to other eye problems such as cross eyes, farsightedness and nearsightedness (Blackman, 1990). According to the National Association for Down Syndrome (n.d.) and WebMD (2015), about 40% of the children with Down syndrome have congenital heart defects. When a newborn is born and diagnosed with Down syndrome, the child needs to have an echocardiogram to check for any serious heart defects and problems. Hearing impairment is also a health issue for those diagnosed with Down syndrome (National Association of Down Syndrome, …show more content…
This test involves a part of the placenta being retrieved during the mother’s third month of pregnancy. This is a shorter test procedure than amniocentesis due to the fact that doctors do not have to wait two to four weeks for the sample to grow in a culture in the lab. Instead, it may only take a few hours to get the results back. This test can be done earlier in the pregnancy: in the first trimester after the ten week period. Although this a quicker and more efficient test, it has a higher risk of the mother having a miscarriage due to being able to test much earlier (Mayo Clinic, 2015, Pueschel et al.,
Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.
There are no standard medical problem or physical defect that is linked with all patients with Down Syndrome. The symptoms can differ from one child to another, which is why some child patients require a lot of medical help, whereas many others live healthily (Girod, 2001).
Trisomy 21 is a result of chromosome non-disjunction in one of the meiotic cell divisions. The non-disjunction event can occur in either parent, but more likely to occur in females. Congenital birth defects are difficult to treat but with the prevalence of Down Syndrome, numerous research projects are being carried out by Down Syndrome Research and Treatment Foundation (DSRTF). Some of the studies are as follows:
Downs syndrome is common name for the condition known as triosomy 21. Here the triosomy indicates babies have 3 copies of a certain gene, instead of the usual two.
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’s Syndrome, also known as Trisomy 21, happens when a problem occurs in the body’s chromosomes. Chromosomes are the structure that holds genes which give the body instruction on how to work and grow. Each person has 23 pairs of chromosomes in every cell in their body and each pair consists of one chromosome from the father and one from the mother. Babies born with Down’s Syndrome have an extra copy of chromosome 21 which changes the way the brain and body develop. It is not certain how Down’s Syndrome happens. It could occur during fertilization or in a rare situation can be passed down from parent to child.
7. Children with Down syndrome usually weigh less than average at birth. They are normally shorter than other children and tend to be overweight.
A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now
Trisomy 21 most commonly known as Down syndrome is a genetic disorder that causes abnormal cell division resulting an extra genetic material forming a twenty-first chromosome. No one knows for sure why Down Syndrome happens and there is no way to prevent the chromosomal error that causes it. Scientists knows that women age thirty-five and older have a significantly higher risk
This means that babies with down syndrome have an extra chromosome, chromosome 47. Some symptoms of the disorder is physical features such as, flat facial profile, upward slant to eyes, small ears, protruding tongue, and your child will have low muscle tone. Other symptoms include, problems with hearing and vision, being cross eyed, having breathing problems, taking longer than normal to reach childhood milestones and take care of themselves, mild to moderate learning impairment, and growing at a slower rate.
Down syndrome is a chromosomal condition that affects 1in every 700 kids. Down syndrome is when a child has and extra copy of chromosome 21. Down syndrome has many ways of telling if the child has down syndrome, like physical features. You can also tell if a child has down syndrome based on how they act. There are different ways of obtaining down syndrome. Kids with down syndrome are no different than kids that were born with the normal set of chromosomes, they just act a little different and need a little bit more help.
Down Syndrome is a genetic disorder that causes learning disabilities. It’s caused when abnormal cell division results in more genetic material from chromosome 21. This genetic disorder is very common or most occurring. Down Syndrome might cause some health problems. Down Syndrome has only one name and it is Trisomy 21.
Do you ever see other people and wonder why they act and look so differently? Their is a genetic disorder by the name of Down-Syndrome. Down-Syndrome is a condition in which a person has 47 chromosomes while others have 46. People with this disorder may have the facial features of flat face, small nose, upward slant eyes, enlarged tongue and may appear shorter than others. Down-Syndrome has nothing to do with race, nationality, religion or anything the father or mother did during pregnacy.. Most parents want to know what is going on with the baby as the mother is pregnant and the best way to find out if your child is diagnosed with Down-Syndrome is a screening test and diagnostic test. A screening test is when you take a blood
of babies born with Down syndrome elevated by about 30 percent. The risk of a child having
syndrome. This disease is named after John Langdon Down, who was the first physician to tell about the disease systematically. This disease sometimes referred to as 47 or trisomy 21, is a very serious life altering disease. Down syndrome is caused by an extra or partial chromosome 21,which is called nondisjunction. Nondisjunction happens when chromosomes are distributed incorrectly during egg and sperm formation. Most body cells contain 23 pairs of chromosomes, 23 chromosomes from each parent, adding to 46 chromosomes. When you have an extra chromosome it adds to 47, causing down syndrome. When the egg meets the sperm to form a normal embryo, the embryo gets three copies of chromosome 21. After that the chromosome is copied to each cell as the baby develops. In some rare cases down syndrome is cased by Robertsonian Translocation. This is when the long arm of the chromosome 21 break off and attaches itself to another chromosome at the centromere. People which have such a translation will not have down syndrome, but can have children with down syndrome. There is only one chromosome affected by this horrendous disease. Down Syndrome controls several aspects of the human body. Chromosomes play an extremely important role in human life. Chromosomes are the blueprint of genes, which is human life. Having a disability