Down syndrome—an in-depth discussion for public awareness & education
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Down syndrome—an in-depth discussion for public awareness & education

Down syndrome—an in-depth discussion for public awareness & education

An in-depth discussion for public awareness & education about Down syndromes

Down syndrome is a conceiving time problem when the baby is conceived with extra copy of chromosome 21, and is carried throughout even after the birth, and so on as he/she grows a person. The problem surfaces after the birth of the baby when the baby may have both physical and intellectual problems, which may include disabilities. However, all the cases of down syndromes are not the same.

The first physician, John Langdon Down had described the syndrome in a systematic way, so the syndrome is named after him as Down syndrome.

Health complications due to Down syndrome

Persons with the Down syndrome problems by birth are often found to be the victims of different types of health problems that include dementia, heart diseases, hearing problem, intestinal problems, thyroid problem, skeleton problem, eye problem etc.

Most probable victims of the syndrome

The women with the progressive ages are found to have the babies with this problem.  But many women under the age of 35 are found to have delivered the babies with this Down syndrome problem.

The clinical explanation of chromosome

A nucleus is present in every cell in our body, where genes store the genetic materials. The genes actually carry those codes which have our inherited traits and are grouped along in a rod-like structure. This structure is called chromosome.

The role of chromosome in our life

Chromosomes carry the genes which are responsible for developing the body in certain ways and performing certain functions. In human body, most of the cells contain 23 pairs of chromosomes. Each pair of chromosome is inherited from each parent. So a human body has 23 X 2 = 46 chromosomes.

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 But those babies who take birth with either partial extra copy of chromosome 21 or it’s full, has 46 + 1 = 47 chromosomes. The extra chromosome hinders the normal development; rather a new type of problem in the physical features of the baby is created. The new problem is seen in the person’s physical and intellectual growth & development related.

Degree of problems with Down syndrome

The persons who suffer from Down syndrome will have mild to moderate intellectual disability. In general cases, children with this syndrome, take comparatively longer time to reach to the key development milestones, where the other children reach much earlier.  In many cases, the children with this problem have also the heart problems and in addition to this, many children have vision and hearing problems. In some cases, these types of children have Alzheimer disease and some other problems. Many children with this problem suffer from thyroid and childhood leukaemia problem. However, with proper care, these children can lead productive and happy life. With the advancement of diagnosis and prognosis, life expectancy of these people has increased in a significant wayKaryotype examination helps the doctors in diagnosing the issue of Down syndrome.

One more test is there for diagnosing Down syndrome i.e. FISH. This FISH test applies same type of principles and confirms about the within a shorter time.

The conclusive notable points for many

a) Need of counseling for those who defer parenting

Now-a-days many couples are postponing their parenting to a later stage in their life, resulting into increased number of Down syndrome cases. So it is important that the parents are counselled about genetics. Further to it, many physicians are not yet well aware of the connection between the postponement of parenting and Down syndrome.

b) Is the problem of Down syndrome hereditary?

The above 3 conditions of Down syndromes are purely genetic conditions, but only 1 % has been found to be running through heredity. Moreover, neither trisomy 21 (nondisjunction) nor mosaicism is found to be running through the generations. But heredity component is found in every 3 cases of translocation. The cases account for 1% of cases of Down syndromes. This category of case does not have any connection with the age of the mother. Most of the cases are found to be chance / events / sporadic. Nonetheless, one in every 3 cases, one of the parents is found to be carrying the translocated chromosome problem.

c) Is there any chance of having a 2nd baby with the Down syndrome problem?

Even though a women might have given birth to a baby with Down syndrome (trisomy 21 nondisjunction or translocation), but only 1 per cent of these women may give birth to the 2nd baby with the same problem, until the age of the mother touches or crosses 40. But the risk of getting translocated chromosome problem remains 3 per cent with the father and 10 to 15 per cent with the mother as the carrier of the problem.  With the help of genetic counselling the detection of carrying of translocated chromosome problem can be possible.

Social impacts of Down syndrome

People who have Down syndrome are increasingly getting integrated with the community organization and society, such as school, work forces health care systems, recreational and social activities.

People with the Down syndrome have different degrees of cognitive delays that may be mild to severe; however most of these people have mild to moderate types of cognitive delays.

Gifts of advanced medical science

With the advancement of medical technology, people with the chromosomal problems can live longer life than it was observed during 1910s. In this time, children used to live up to 9 years of their age. The discovery of antibiotic has enhanced the life expectancy up to 19 or 20 years.  If a corrective heart surgery is done in the adult age, 80 per cent of these people can live up to 60 years of their age. Some of them even live longer.

People in USA with this problem are interacting with each other and spreading the knowledge for public education and public acceptance of these people with Down syndrome.

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