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Analysis of the down syndrome condition

Down syndrome also known as Trisomy 21 is the condition in which extra genetic material causes delays in the way a child develops mentally and physically. This condition affects 1 in every 800 babies. The physical and mental problems associated with Down syndrome can vary among children. While some children with Down syndrome need medical attention, others lead very healthy lives. Down syndrome is not preventable but it can be detected before birth. Health problems in Down syndrome cases can be treated and there are community resources to help children and families with this condition.


Basically Down syndrome is a situation or circumstance that occurs in humans as a result of a particular genetic alteration. This genetic alteration is that the baby's cells have at their core an extra chromosome or extra chromosome, 47 chromosomes instead of 46. A syndrome means the existence of a set of symptoms that define or characterize a particular pathological condition. This condition is named as Down syndrome because it was initially identified in the last century by the English physician John Langdon Down. However, it was discovered in 1957 by Dr. Jerome Lejeune that the main reason for the emergence of this syndrome is due to the nuclei of cells had 47 chromosomes instead of the usual 46. (Geliebter, Allan, 2008)

It is important to know that the man's sperm and woman's egg are embryonic or germ cells which have only half the chromosomes of other cells, i.e. 23. Therefore, when conception occurs and the egg and sperm fuse to cause the first cell of the new human organism, it has 46 chromosomes characteristic of the human species. From the first cell and successive cell divisions, it will be forming the millions of cells that form the various organs of our body. That means that when cells divide, each cell still possesses those 46 chromosomes. It should be recalled here that the importance of chromosome lies in its content, i.e. genes that reside within it.


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Some couples wait to have a child later to enjoy the married life which increases the risk that the new born baby might be suffering from Down syndrome. That is why parents who have children at older ages should get genetic counseling. Down syndrome is a disease which is a genetic disorder in which the child has an extra chromosome. It has three units of chromosome 21 (Trisomy 21) in place of the normal two. It is still unknown why a baby has this extra chromosome, and how this disturbs and distorts the development of its structure and normal functions. However, it will be one of the gametes (egg or sperm) carrying the chromosomal content in this error. It has been said that this anomaly is present in egg rather than sperm, therefore it has been suggested that the pregnancy should be avoided after a certain age (40 to 45 years), as there are greater possibilities of such errors. It has been said that if the woman of this age (40 to 45years) or older become pregnant then the pregnancy will be considered high risk. (MacLean et al, 2005)

The most common type of Down syndrome accounting for 95% of cases is Trisomy 21. In this case, an abnormality in cell division results in the production of an extra chromosome 21 in each cell.  In a person with Down syndrome, the cells produce excessive amounts of chemicals whose synthesis depends on the genes of chromosome 21. This imbalance in part explains physical effects and biological changes observed in people.

The rarer forms of Down syndrome are caused by other abnormalities of cell division, which normally produce some of extra chromosome. Approximately 2-3% of cases of Down syndrome are type Translocation, and about 2% are of the form called Mosaicism

Normally, in the moment of conception a baby inherits genetic information from their parents by 46 chromosomes: 23 from the mother and 23 from the father. At 40 years, the risk is 1 in 100.

While some children with Down syndrome have no other health problems, others have various medical problems that require extra care. For example, half of children born with Down syndrome also have congenital heart disease which can more likely develop pulmonary hypertension. A pediatric cardiologist can control such problems, although many of this type of problems can be treated either with medication or surgery.

About half of children born with Down syndrome also have visual or hearing problems. Hearing impairment may be due to fluid accumulation in the inner ear or the existence of structural problems in the ear. Vision problems include amblyopia (lazy eye), nearsightedness or farsightedness and an increased risk of cataracts. Parents of children with Down syndrome should concern the audiologist and ophthalmologist for their regular exams to detect and correct any problem before it affects language skills and learning.

Other medical problems that occurs most frequently in children with Down syndrome include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, susceptibility to infections and risk of childhood leukemia. Fortunately many of these disorders are treatable. (Khan et al, 2008)

Living with Down Syndrome

The baby with Down syndrome has several features, including a flattened profile, slanted eyes, epicanthal folds (skin folds above the upper eyelid), a flat nasal bridge, enlarged tongue, small ears, a single ply in the palms of the hand (called single transverse palmar crease), a smallness of the limbs and trunk and a head size of less than average. Despite this, the baby and the child may resemble other family members. Besides the usual childhood diseases, children with Down syndrome may suffer from some unique complications.  Adequate health care delivered from a very young age can help children live better with Down syndrome.

Some medical conditions are minor, while others including heart defects which may be more problematic. The diagnosis of a congenital heart does not mean that the baby is gravely ill. Heart problems can be very mild as potentially fatal. In addition, approximately 10% of newborns with Down syndrome have an occlusion (blockage) which requires intestinal surgery. There was also some loss of hearing due to the frequency of otitis (ear infections).

Babies can be breastfed and the doctor or nurse will provide useful guidance to nursing mothers. Infants and children with Down syndrome are also at increased risk for hypothyroidism (low thyroid hormone), leukemia and convulsions. However, if Down syndrome screened and treated early, it can contribute a better management of several types of disorders.

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In most children with Down syndrome, there is a language delay, sometimes exacerbated by the loss of hearing. Intervention by a speech therapist may be beneficial for learning and child development. Disorders of eye and vision (e.g. Cataracts, strabismus, myopia or hyperopia) are more common in these children than in others. In some cases, corrective eyewear and medications may help improve vision, while other children will need surgery. As their muscle tone is low, babies with Down syndrome may have difficulties to turn around, sit and walk. Regular physiotherapy sessions are sometimes necessary for the children suffering from Down syndrome

Men with Down syndrome are often infertile, but pregnancy is possible for women. Genetic counselors and family planning specialists are typically involved in these cases to provide information and assistance. The adults are also more prone to early onset Alzheimer's disease.

Learning abilities of people with Down syndrome ranged from normal to very low. In general, they accuse a mild to moderate mental retardation and it is impossible to predict the importance during pregnancy or childbirth. Children having Down syndrome shows lower development and possess some learning difficulties. However, in most cases, children may learn to walk and talk, biking and reading, and enjoy a diversity of skills and talents. Good physical health and social support promote continuous learning.

The arrival in the family of a baby with Down syndrome may require an adjustment period. Parents may feel obliged to help the child more than others. Parents should take the time to know their child, give him/her a place in the family and do not forget that the child has its own personality and needs and requires more love and support than others.

Previously, people with Trisomy 21 often died as a child or adolescent. In general they did not receive any aid, except in rare cases where this aid is very limited. With an environment full of love, early stimulation, schooling, participation in activities and social integration, people with this disease can develop their potential. Most people with Down syndrome learn to read and write with the passage of time if proper counseling is provided. With proper management, they can also do a job that suits them in order to live independently, alone or in pairs. They are able to participate in social life and continually make new acquisitions. (Bérubé, Michael, 2005)


Treatment depends on the degree of retardation and related problems. For example, Heart defects require surgical correction. Beyond the physical problems, the child needs special education. Many parents find it easy to provide this, since children with Down syndrome and other delays tend to be calm and treatable when young. Usually these children are placid, pleasant and seldom cry or complain

Treatment of Down's syndrome with stem cells is directed generally to the whole body. Stem cells significantly affect the metabolism and strengthen immunity to replace the damaged cells with healthy tissues. It also helps in creating new ways of damaged vascular bypass by improving nutrition authorities. Treatment of stem cells has a positive impact on all systems of the body of child. It helps in reducing the brain development and normalizes the bone growth that improves the physical development of the organism. As a result, the child becomes socially adaptable and learner. It also allows a child to attend the school with their peers.

Parents of children with Down syndrome should be directed to a program of child development and early intervention. These programs offer parents special instruction and help them in learning the best way to teach their child language, learning resources, ways to help themselves, forms of social behavior and specific exercises for gross motor development. (Corfield, Justin, 2008)


In general, Children suffering from Down syndrome can do most of the things as compared to normal children. For example, children having Down syndrome can walk, talk and dress without creating any difficulty for the parents. However, they usually have low learning abilities therefore they learn these activities later than the normal children. It has been said that there is no cure for this type of disease, however it can be prevented if the women avoid pregnancy after the age of 30 years as the probability of having child with Down syndrome is higher in women who are 30 years old or older than it. Studies have shown that most parents have found that education about the syndrome has helped them to overcome their fears and concerns. Down syndrome is diagnosed by examining Alcaerutayb (karyotype) of the chromosomes. There are tests which may be performed during pregnancy to find out the child's risk of Down syndrome. Unfortunately there is no specific treatment for Down syndrome, but most of the diseases associated with it can be treated. Usually, early diagnosis and its attendant follow-up and treatment for the disease can be the best outcome for the child. "This syndrome, SARS, is now a worldwide health threat... The world needs to work together to find its cause, cure the sick and stop its spread"

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