Down Syndrome

The human body is made up of a large number of cells. Inside each cell, there is a thread-like structure called a “chromosome” that contains genetic information. Normally, there are 23 single chromosomes in the sperm and the egg cells of the woman. With fertilization, these combine to form the baby’s 23 pairs (total of 46) chromosomes. The number of chromosomes is normally 46. However, this number is 47 in individuals with Down Syndrome.

Sometimes, there is an error in chromosome production in the sperm or egg cell, and instead of one, two of the 21st chromosomes are produced in the sperm or egg cell. Thus, the abnormal sperm or egg cell carries 24 chromosomes instead of 23 (two of chromosome 21 are formed). As a result of fertilization of an abnormal sperm or egg cell with a normal sperm or egg cell, the total number of chromosomes of the baby will be 47 (chromosome 21 is 3 pieces). This is why Down Syndrome is also called trisomy 21.

What is the Frequency of Down Syndrome?

Down Syndrome occurs in every 600-700 live births. With a rough calculation, 2500-3000 babies with Down Syndrome are born in our country every year. This means that 250-300 babies are born a month, 10 babies with Down Syndrome a day. 5000 Down Syndrome babies are born annually in the United States, 1200 babies are born in Germany, and 800 babies are born annually in Austria.

What causes Down Syndrome?

The cause of Down Syndrome has not been clarified until now. Experts on the subject say that Down Syndrome “occurs as a result of coincidence”.

The reason that can be scientifically revealed in the researches is that the mother’s age is over 35 or the father’s being old increases the probability of having a baby with Down Syndrome.

Some common features seen after birth in babies with Down Syndrome:

  • Face: The face of a child with Down Syndrome is usually round and flat.

  • Head is Round, neck and back are in the same plane.

  • Eyes: Almost all children with Down Syndrome have upward slanting eyes like almonds. There is a skin fold called “epicantus” on the nasal sides of the eyes. Newborns may have white or slightly yellow spots inside the eye. These disappear over time.

  • Hair: Hair is generally soft, sparse and shiny.

  • Neck: A skin fold that disappears as it grows can be observed on the nape of a newborn with Down Syndrome. The hairline is usually higher than the nape. The nape looks straighter.

  • Muscle tone: Neck and other joints of newborns are loose. When children are handled, they are observed as jelly. That is, their muscles are relaxed. This is called Hypotonia.

  • Mouth: Their mouth is usually small. Their palates are high. As with all muscles, the tongue usually hangs out due to the laxity of the tongue and mouth muscles.

  • Hands: The hands are wide and the fingers are short. Many have a thick transverse line on the palm. (Simian line)

  • Feet: The feet are usually narrow and there is a gap between the big toe and the second toe. (Sandal gap)

  • Height: The weight and height of children with Down Syndrome are usually not much different from normal at birth. Others may be slightly below average. In adulthood, they are generally short in stature. The number of people approaching the average height of their families is not small.

What are the types of Down Syndrome?

There are different forms of Down Syndrome. These:

  • Free trisomy 21:

It is the most common type. About 95% of all Down Syndrome cases are of this type. It has all the signs of Down Syndrome. The number of chromosomes is 47. It is more related to the advanced age of the mother. The age of the father over fifty is also prominent in this type.

  • Translocation trisomy 21:

It usually occurs as a new phenomenon. It is found in 4-5%. Although the number of chromosomes was determined to be 46, the extra chromosome did not disappear, but merged with another chromosome. A chromosomal translocation may occur in up to 25% of the family. All signs of Down Syndrome, such as free Trisomy 21, are found in these children. Chromosome analysis is recommended in the family.

  • Mosaic trisomy 21:

It is found in approximately 1-2% of all Down Syndrome cases. Affected individuals have 46 chromosomes in some cells, while others have 47 chromosomes. Findings may differ according to the effect of cells.

Is there a cure for Down Syndrome?

Down Syndrome is not a disease; just like green eyes and blond hair. Therefore, there is no treatment available. However, there are some diseases that accompany Down syndrome. First, they need to be treated.

What are the diseases that accompany Down Syndrome?

Some of the diseases that accompany Down Syndrome are:

  • congenital heart diseases

  • Thyroid diseases

  • immune system failure

  • Increased leukemia rate

  • Various infections, especially upper respiratory tract infections.

  • Stomach and bowel problems

  • Eye and ear diseases

  • Deformity of permanent teeth

What can be done for a child with Down Syndrome?

Early education and early physiotherapy are necessary to support mental and physical development in Down Syndrome. For this reason, the education of the child should be started as soon as possible after birth.

Speaking in Down Syndrome:

Speech will also be delayed in a child with Down Syndrome, as development lags behind their peers. For this reason, if the accompanying diseases are treated and possible hearing problems are eliminated, the child starts to speak the first words at the age of 2-3 years, in proportion to the quality of the education to be given. Speech develops rapidly after the first words.

Physiotherapy in Down Syndrome:

Children with Down Syndrome often have a muscle laxity. For this reason, it is late for the child to hold his head, crawl and walk. In order to accelerate this, starting physiotherapy early helps him to start life as soon as possible and discover his surroundings.

What are the behavioral characteristics?

First of all, individuals with Down Syndrome are cheerful, honest and conform to the rules. They are helpful. Feelings of pity are very well developed. Resentment, selfishness and self-interest are far from them. They love nature. They have a high religious inclination.

With their sympathy, they are almost always the center of attention in the society. They are gregarious. They are easily affected by negativity. They are emotional. Imitation abilities are very well developed; He also has a talent for humor.

They excel in fine arts. They enjoy music and dance. However, behavior disorder and attention deficit are seen in a group of children with Down Syndrome, especially at a young age. These children sometimes force parents and teachers to cope. Typical behavioral problems such as running away, throwing things, biting can be seen.

One of the most typical features that can be seen in all DS individuals, big or small, is their tendency to become stubborn. For this reason, presenting the instructions in the form of a game rather than an order makes it easier to follow the instructions; reduces the risk of experiencing the stubbornness process.

How does Down Syndrome affect a child?

As every child should, babies and children with Down Syndrome need good care and early education. Development in children often lags behind. Sitting and walking are delayed, learning is lagging behind other children. In the first five years, development occurs like other children, but at half the pace.

Children with Down Syndrome need more time to respond to stimuli. If the child is given enough time, their response to stimuli will be like healthy children. Although development is behind healthy children, there are also differences in development among children with Down Syndrome. Movement restriction may be observed due to muscle laxity. Physiotherapy helps to eliminate this problem.

The importance of early education

It is known that as a result of the education started at an early age, there is progress in mental development, and that DS children with better mental potential can go to normal primary schools and adapt to inclusive education. The conclusion that DS children are protected from the mental decline they experience in their first 18 months of life with early education is derived from research in Australia, Israel and the United States.

It has been determined that DS children do not have motivation to learn on their own, they give up the given tasks and problems very quickly, but they continue with games, rewards and a positive approach.

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