Down syndrome or Down syndrome is a set of physical and psychological traits resulting from a genetic problem that occurs in the early prenatal stage. Children with Down syndrome (Mongolians) have distinct facial features, their profile is flat and the neck is short. They also often suffer from underdevelopment

Mental degree to a certain degree. Signs of the disease vary in severity from patient to patient, but they generally range from very light to medium.

Down syndrome symptoms

The majority of children with Down syndrome are characterized by

Distinctive facial features, such as a flat profile, small ears, oblique eyes and small mouth.

Neck, hands and short legs.

Muscle weakness and loose joints. In late childhood, the level of muscle tension usually improves.

IQ - Intelligence Quotient is below the overall average.

A very large percentage of children with Down syndrome are born and they also suffer from many complications and other medical problems, such as problems in the heart, intestine, ears or breathing problems. These problems, in turn, lead to other additional problems, such as respiratory infections or hearing loss. They are problems that can happily be addressed.

questions and answers

Congenital malformation appears in the palm of the fetus'' hand

The need for an amniocentesis to deny the presence of Down syndrome

What indicates the high value of fetal protein?

Radiant in situ hybridization test

Is there a treatment for hyperactivity and ADHD?

Causes and risk factors for Down syndrome

One of the causes of Down syndrome is a problem in the chromosomes system in the fetus'' body, well before its birth. This chromosome system is an important part of the cells of the body, as it contains the genetic material and information of the individual person. It is known as "DNA": "deoxyribonucleic acid (DNA)".

Normally, the normal healthy fetus has 46 chromosomes in each somatic cell. As for the fetus who suffers from Down syndrome (Mongol), its cells contain 47 chromosomes. Very rarely, another genetic disorder can lead to Down syndrome. The extra chromosome (forty-seventh) causes a change in the development of the fetus''s mind and body.

Experts do not yet know the exact cause of the said change in genes, but there are several causes that can increase the risk of a fetus with Down syndrome. Among these factors are:

Pregnancy over the age of 35: The older a woman gets, the greater the risk of the fetus with Down syndrome. (Despite this, the majority of children with Down syndrome were born to mothers under the age of 35, given that women under the age of 35 tend to have more children compared to women over the age of 35).

If the father is 40 years or older

If another child was born in the family who suffers from Mongolism.

Down syndrome diagnosis

The attending physician definitely recommends that you perform various tests during pregnancy in order to check that the fetus does not have Down syndrome (Mongolian). There are several different imaging tests that can detect Down syndrome (Mughal) with it. However, these tests can sometimes show false positive results, that is, to show in the examination that the fetus suffers from Down syndrome, while it is not actually so.

Imaging checks include

Blood tests and ultrasound (ultrasound / ultrasound) at the end of the first trimester (end of the third month) of pregnancy. An ultrasound scan tries to detect condensation in the neck region of the fetus. This examination claims to be the "nuchal translucency screening", which symbolizes the presence of Down syndrome. This examination is not always available in all cases.

A blood test called a fetal albumin (fetal protein screening - AFP - Alpha Fetoprotein test), or a quadrant test is performed in the second trimester of pregnancy. By measuring some of the compounds in the blood of the mother (pregnant woman), it is possible to estimate the risk of the fetus having Down syndrome, or to reveal other problems in the fetus.

If the results of some tests performed for a pregnant woman give rise to concerns or doubts about the possibility of her fetus having Down syndrome, then the treating doctor can recommend a chromosome examination (Karyotype). This examination has a high risk compared to other tests, but it gives a definite answer to the question of whether the fetus has Down syndrome (Mongol) or not.

The karyotype examination includes

Chorionic villus sampling

Amniocentesis / amniocentesis

Sometimes the syndrome is diagnosed only after birth. The doctor can diagnose Down syndrome almost instantly and with certainty, depending on the appearance of the newborn and on physical examination. In order to confirm the diagnosis reliably, a blood test is performed for the newborn, and its definitive conclusive result appears within two to three weeks.

Down syndrome treatment

If the newborn suffers from Down syndrome, medical examinations are initiated immediately upon birth (immediately after childbirth) to reveal whether he has additional medical problems. For example, many people with Down syndrome also suffer from vision, hearing or thyroid problems (Thyroid gland).

The more early medical problems are diagnosed, the greater the chances of treating them with greater efficacy. Repeated and continuous visits to the family doctor also help to maintain the health of the child with Down syndrome.

The neurologist who supervises the treatment of a child with Down syndrome can advise parents to adopt an appropriate treatment program for their child, appropriate to the pace of the child''s development, growth and needs. Many children with Down syndrome benefit, for example, from Speech - Language Therapy and Physiotherapy programs.

As the boy with Down syndrome gets older, the Occupational therapy becomes more effective and positive, as it helps the person with Down syndrome accept and maintain his workplace and live an independent life, as much as possible. The counseling treatments can help him overcome social and emotional distress.

There are many professionals and specialists who can lend a helping hand and help, whether for a child with Down syndrome or for his parents and family members. However, there is no disagreement that from the moment the child is born infected with it, the role of the parents becomes the most important and central role in determining the extent of the child''s success in facing the disease and living with it.

In order for parents to take the correct steps appropriate for their child, they must

Learn all about Down syndrome. This will help them fit their expectations to reality, as well as how they can help their child.

Investigate their right to any financial support.

Investigate the means of support in the residential area in which they live. For example: In many places, assistance and treatment programs are available for children under the age of three, in order to provide them with assistance at the beginning of their path and contribute to pushing them forward.

Investigate appropriate cultural institutions to find an appropriate educational framework.

Raising a child with Down syndrome is a difficult challenge, but it brings a big reward. Parents must devote themselves to some time, and if they need help, they should not hesitate to ask for it.

Sharing conversations and experiences with other parents who have a child with Down syndrome can be a catalyst for treating Down syndrome. Therefore, you can inquire from a doctor or a health institution about support groups for parents of children with Down syndrome.