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Down Syndrome - Symptoms, Causes, Diagnosis and Treatment

Down Syndrome – Symptoms, Causes, Diagnosis and Treatment

Down Syndrome – Symptoms, Causes, Diagnosis and Treatment

“Congratulations, you are pregnant!” For many women – and their partners – these words are a long-cherished wish-dream. The joy is immense, the desires and hopes that are connected with the new life are great. All the worse, the news that some parents are making is that the child will not be born healthy, a serious diagnosis has already been made in the mother’s body: Down syndrome or trisomy 21. The affected women and men face one of the most difficult tasks, which the life can give to one, namely before the decision: the child get or abort it?

Modern prenatal diagnostics, that is, the possibility of determining during the pregnancy whether the unborn child is suffering from diseases or abnormalities, is certainly a curse and a blessing. On the one hand, parents can adapt themselves to the fact that their child is born with a handicap, but at the same time have to deal with the appropriate diagnosis – and decide: would they like to welcome their child with a disability in the world or will they? of the stress not feel grown, abort the pregnancy? Ethicists and scientists are passionate about the consequences of prenatal diagnosis, affected parents are confronted with the most diverse, more or less well-meaning “tips” and “advice” from their environment. One thing is certain:

Down Syndrome: What is it really …

Down syndrome, named after the British neurologist John Haydon Langdon-Down, who classified the syndrome for the first time in the second half of the 19th century, is a genetic abnormality, also known as trisomy 21. Normally, each human body contains 46 chromosomes (these are the carriers of the genetic substance), more precisely 23 chromosomes, each of which is present twice. In some people it is due to an irregularity in the cell division that 47 chromosomes are present because the chromosome 21 occurs three times in the genome. It is estimated that currently about one child of 1000 has trisomy 21.

… and what impact does it have?

People with trisomy 21 usually have a rather flat back and round, soft faces with narrow, slightly oblique eyes. These are the reasons that Down syndrome was also called “Mongolism”, a term which is now considered discriminatory and is no longer used. People with the syndrome have fairly wide hands with short fingers, on the feet falls on that the big and the second toe far apart. The children with trisomy 21 are often smaller than their parents, after puberty, they are often much increased. As a rule, they are mentally more or less impaired.

Unfortunately, people with Down syndrome are often also affected by health problems. The most common symptoms are heart problems, thyroid problems, disturbances in the gastrointestinal tract, and reduced vision and hearing. Also the immune system is often weakened, the susceptibility to infections is therefore higher than in healthy children. However, not all well-known symptoms have appeared in every person with Down syndrome. In addition, of course, comprehensive and good treatment of all diseases is possible. Quite different from 30 years ago, when only a few people with trisomy 21 had their thirtieth birthday, the life expectancy is today 60 years!

How a child behaves and develops with trisomy 21 can hardly be predicted. Some are severely impaired and their loneliness alone is rather helpless, many others in turn manage very well in life; there are even people with Down syndrome who are graduates who are successful as artists and athletes. Much depends on early childhood support, love and other circumstances in which a child is growing up. In general, one can say that children with Down syndrome need more time – they are simply developing slower overall. But many of these children are also particularly amiable, communicative and cheerful.

How is Down syndrome diagnosed?

There are different ways to test a baby in the mother’s body specifically for Down syndrome. The first indication is often a thickened neck fold in the embryo, which becomes visible in a special ultrasound examination. Before this ultrasound, the mother is also taken from blood in order to test for two specific blood values, which can also indicate a trisomy 21. However, this so-called first trimester screening does not provide any proof.

It is more reliable to analyze the samples of the fruit water or the mother’s cake, the placenta. In both cases, a thin needle is passed through the abdomen under local anesthesia and some fruit water or placenta is removed. The child’s cells are examined in the laboratory. The amniocentesis (amniocentesis) provides a very accurate result, but can trigger a miscarriage, which is the case with up to one per cent of all interventions (in specialized centers by many times less). Taking breast cancer (chorion villus biopsy) is somewhat less risky, but less clear.

For some years, there have been blood tests to determine trisomy 21 and other chromosomal abnormalities prenatal. If the result is conspicuous, it is usually recommended to carry out a fresh water examination to be sure.

Even when time is pressing: carefully weigh the pros and cons

Physicians and advisors, to express themselves thoroughly before a prenatal test on the Down syndrome, and to advise them professionally – simply to get rid of all questions and to get well-informed in the test. It is also important, however, to prepare the mothers and fathers sensibly for the test to produce a negative result – and then have to make a subsequent decision.

Some ethics experts complain that many parents in Germany are under enormous pressure when they expect a sick child. They were almost expecting them to abort the child, and they were often tempted to change them if they chose a disabled child. These scientists condemn a climate of handicaps in our country and advocate a broad social debate about the value of life itself. The direction in which research is directed is at least questionable. Even today, the entire hereditary material can be deciphered in the 20th week of pregnancy and diseases that might break out in the later life. Even if this diagnosis has been banned in Germany so far, how it deals with this development. Should only healthy and strong children be born in the future? Are disabled persons no longer entitled to life? A critical question.

Beyond all ethical considerations and moral evaluations, the dilemma of the parents of unborn children with disabilities is incredibly great. So many questions do they have to answer: Am I up to the task of raising a handicapped child? Will I regret it all my life when I break my pregnancy? Do I run a kind of “genetic selection” when I abort the child? Would I like my disabled child to grow up in a service society in which the weaker ones are so often disadvantaged? Do I have relatives and friends who support me in my decision? Do I have the financial and temporal opportunities to promote my handicapped child as much as possible?

A happy life? Also possible with Down syndrome!

No one should blame parents who decide against a child with Down syndrome. Who knows how he himself would behave in such a situation? And surely, such a decision is not easy – not a few suffer years after an abortion under tormenting debt feelings and feel a gap that leaves the aborted child behind.

Perhaps these parents have lacked the decisive amount of courage that parents with a Down syndrome child would like to make to other parents. In many Internet forums, but also in parents’ groups, mothers and fathers report on how beautiful the life with the disabled child is, how much she and his siblings love it, and how much love they get back from him. Without the many difficulties, efforts, worries and hardships and the often rejecting reactions of the environment, these parents emphasize that they have just as much joy and stress with their “special” child. That they do well, as natural and open as possible deal with the handicap of their child. That they have grown to the challenges of humanity. That her child makes astounding progress and gets along well with and in his environment.

(Decision-making) help is available in many places

In any case, parents with a disabled child – whether wanted or unwanted, unborn or already in the world – are well advised not only to seek advice from doctors and other experts, but also to seek the exchange of experience with other affected women and men , Luckily there is a strong network of relief organizations, information and counseling centers, parents’ initiatives and self-help groups all over Germany. This can be addressed to one, if one needs assistance in deciding “disabled baby or abortion”. On the other hand, there is also active support in these areas when the decision has been made for the baby and now it is about the challenges of a life with a disabled child. A very good first orientation help can be found in the Internet, for example

Scientifically Proven: Bad Habit vs addiction: How to Decide & How to Overcome?


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