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.  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 way. It was 25 years during 1983 but has reached up to 60 years in these days

Types of Down syndrome

Down syndromes are of 3 types: 1) The nondisjunction Trisomy 21, is found to be responsible for 95% of cases; 2) Translocation has been accounted for 4 % of the cases and 3) Mosaicism types are found among 1 % of the cases.

1) Trisomy  21 (NONDISJUNCTION)

The usual cause of Down syndrome is error in the division of cell i.e. nondisjunction. In this situation, an embryo gets three copies of chromosome 21. That is why its name is TRISOMY 21. In normal cases it is two copies one each from each parent. Before conception a pair of 21st chromosome (either from the eggs or from the sperms) fails to separate. With the development of embryo, extra chromosome is replicated in each of the cells in our body. This is the problem that creates impairment in the physical and intellectual developmental and growth of the person with the problem.95 % of the Down syndrome cases are for this problem.

2) Translocation

In this condition, a part of chromosome gets broken off during cell division and gets attached with another chromosome, i.e. chromosome 14, however the total number of chromosomes remain the needed 46. But the extra part (broken part) creates the problem as Down syndrome. 4 % of the Down syndrome cases are for this problem.

3) Mosaicism

The occurrence of Mosaicism have been found to be in those cases when nondisjunction of chromosome 21 takes in to effect in only one and not in all (in the normal condition) as happens at the starting of the cell divisions, in the post fertilization period. Due to this, a mixture of two types of cells takes place, a few contain chromosome 46 and a few contain chromosome 47, these latter ones come with the extra chromosome 21. 1 % of the Down syndrome cases are for this problem.

Some researches confirm that people with the Mosaicism have only a few of the characteristics of Down syndromes, when compared with the other two types. But it will not be wise to have a broad generalization because of the wide range of abilities are possessed by the people with Down syndrome.

Nature of the syndrome

The syndrome is a commonly occurring condition in chromosomes. In USA, the problem is found in 1 among every 691 babies. The total number of persons living with this Down syndromes in the USA is 400,000.

Who are the most victims?

All races and all economic classes come under this syndrome. The problem grows with the progressive age of a mother, but 85% of the Down syndrome cases among the babies are from those mothers who are below 35 years of their ages.

Treatment of the problem:

Down syndrome was so far irreparable, but in these days, many of these conditions (not all) can be treated & cured. If the problem is diagnosed at the earlier stage, the patient’s skills can be improved. Ultimately the patients can lead a normal life.

How the skills of a person get affected due to this syndrome?

The skills get affected are related to occupational, speech, physical and/or educational therapy. If the patients get proper support and treatment at the right time, they can lead a productive and happy life.

In most of the cases, the physical traits are

• small stature,

• low muscle tones,

• a single crease across the centre of palm,

• an upward slant to the eyes

Since every person with this problem is unique, so the cited problem may be found among the affected persons with or without certain degrees as the characteristics of the patients.

Functionality found among these persons with the Down syndrome

The affected person can well attend the school and work places. They can take decisions which are thickly connected with their lifestyles. They can also contribute to the society in a very significant way. However, these people experience cognitive delays, the effects of which have been recorded to be mild to moderate. So their performance-indicators do not appear to be the results of the persons’ strengths and talents.

How to improve the skills of the persons with Down syndrome?

If the home atmosphere is stimulating, quality education is imparted. Good health care is provided, positive support from all around is extended, these Down syndrome affected people can develop their full potential and enjoy their fulfilling lives.

Diagnosis of Down syndrome

Prenatal stage:

2 categories of tests are there for diagnosing Down syndrome before the birth of a baby. 1st is screening test and the 2nd is diagnostic tests. Screening the baby in the prenatal stage can estimate the possibility of the foetus with Down syndrome. However, all these screening tests indicate about the probability. But the diagnostic tests indicate about the definitive conclusion or 100 per cent accuracy.

Screening tests: - Ultrasound and sonograms are involved in the screening tests. In the serum screening tests, blood tests measure the quantities of different substances a mother’s blood is carrying.  These tests together with the age of the mother confirms about the chance of Down syndrome of the baby. The blood tests are performed with the detailed ultrasound test for checking for the markers that are closely connected with the Down syndromes.

Latest systems of parental screening can detect the presence of chromosomal material from within the foetus and is circulating in the blood of the expecting mother.

The tests are not invasive, yet they can provide maximum rate of accuracy. In spite of this fact all tests cannot give definite result of the Down syndrome issue. To diagnose the problem, all most all the expecting mothers are routinely offered this test

Amniocentesis and CVS (Chronic Villus Sampling) are the prenatal diagnostic procedure for detecting Down syndrome. The procedure of course has the 1 per cent chance of causing spontaneous miscarriage, but 100 & accurate in diagnosing the Down syndrome.

The time for Amniocentesis diagnosis is the 2nd trimester after 15 weeks of pregnancy, and the time for CVS is the 1st trimester i.e. in between 9 and 11 weeks of gestation.

The birth time identification

Because of certain physical traits, Down syndrome can be identified at the time of birth of the baby. The traits are

 low muscle tone,

 a slightly flattened facial profile

 a single deep crease across the palm of the hand, and

 an upward slant to the eyes

The observations of these traits are kept aside while karyotype, another chromosomal analysis is done for confirming the issue along with these traits.

Karyotype is obtained when doctors examine a blood sample for examining the baby’s cell. In practise, doctors take the photographs of the chromosomes and then group them as per the size, shape and number. Karyotype 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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