WHAT IS DOWN SYNDROME
Down Syndrome is a genetic difference, a chromosomal abnormality. In the simplest terms, while the number of chromosomes in an ordinary human body is 46, this number is 47 in individuals with Down Syndrome because there are three 21st chromosomes. Down Syndrome is not a curable disease, it is a genetic difference. It occurs when an extra chromosome is included in the 21st chromosome pair as a result of incorrect division during cell division. The only factor known to cause Down syndrome is the age of pregnancy, the risk increases in pregnancies over the age of 35. However, as young women in general have more babies, 75-80% of children with Down syndrome are babies of young mothers. There is no difference in country, nationality, socio-economic status. It occurs on average one in every 800 births. There are around 6 million individuals with Down syndrome all over the world. There is no exact data in Turkey, but it is estimated that there are about 100,000 Down Syndrome people.
Causes mild or moderate mental and physical developmental delay.
47 How are chromosomes formed?
23 of the chromosomes that make up the human body come from the mother and 23 from the father. In Down Syndrome, the 21st chromosome is not 2 but 3 (for this reason, Down Syndrome is also known as Trisomy 21). As a result, the total number of chromosomes is 47, not 46.
What are the Types of Down Syndrome?
1-Trisomy 21: It is the standard type that makes up 90%-95% of the DS population. In this type, an extra 21st chromosome comes from the egg or sperm cell, or due to incorrect division at a point in the early stages of fertilization (that is, because the chromosomes remain stuck to each other while dividing and this adhesion causes 2 chromosomes to come from one side and 1 chromosome from the other side) new cells 3′ They are formed as a total of 47 chromosomes with each chromosome.
2- Translocation: It is the type that makes up 3%-5% of the DS population. In this type, a part of chromosome 21 breaks off and attaches to another chromosome (eg, chromosome 14). The individual has 46 chromosomes as a number, but there is 47 chromosome information as genetic information. Here, too, since the 21st chromosome is 3 pieces, the individual shows the same features as in the standard type. Other types of Down Syndrome are not inherited. Down Syndrome is inherited only if one of the parents of the translocation type is a carrier. This rate is 33%. If she is a surrogate mother, the probability of giving birth to a child with translocation Down Syndrome is 20%, and if she is a surrogate father, it is between 5% and 2%.
Genetic counseling is more important in terms of knowing the risks in future births in the translocation type.
3- Mosaic: Down Syndrome is the type that makes up 2%-5% of the population: In this type, some cells carry 46 chromosomes, while others carry 47 chromosomes. When the wrong division occurs in the advanced stages of fertilization, one line continues as 46 chromosomes and the other line continues as 47 chromosomes and creates a mosaic structure.
What is the frequency of Down Syndrome?
Down Syndrome is seen in one out of every 800 babies born.
1500 babies with Down Syndrome are born in Turkey every year.
Down syndrome affects people of all ages, races, religions and economic circumstances.
It is estimated that there are around 100,000 people with Down Syndrome living in Turkey.
When was Down syndrome discovered?
It was always believed that people with Down syndrome. However, it was named after him after a description of the condition was published by the English physician John Langdon Down in 1866.
In 1959, professor Jerome Lejeune proved that down syndrome is a chromosomal disorder.
How is Down syndrome diagnosed?
The diagnosis of Down syndrome can be determined by amniocentesis at 16 weeks of pregnancy. Amniocentesis is a procedure performed by taking a sample of the amniotic fluid that the baby is in. The test result will be known within 21 days. Amniocentesis should be performed before the 19th week of pregnancy.
Some physical symptoms of Down syndrome can also be determined by ultrasound with the help of advanced devices. Symptoms such as nuchal translucency, nasal congestion, and the amount of cerebrospinal fluid can also give an idea about Down syndrome.
Some of the features are:
Some physical features seen in children with Down Syndrome are slanted small eyes, flat nose, short fingers, curved little finger, thick nape, single line on the palm, big toe is separated from other fingers All or some of these features can be seen.
Babies with Down Syndrome grow more slowly than their peers, with exceptions. Their mental development is lagging behind. This retardation appears to be more evident as the age gets older, but with appropriate education programs, children with Down Syndrome can also achieve many successes and build meaningful lives in society. A regular and disciplined training program and plenty of repetition are the most important factors here.
Individuals with Down Syndrome are generally shorter than their peers and if they do not adopt the right eating habits due to their slow metabolism, they may experience weight problems in later ages.
They need physiotherapy support due to different degrees of muscle laxity (Hypotonia). As soon as your baby is born, it is very important that we meet with the physiotherapist, get information and prepare a forward-looking support program. Depending on whether the hypotonia is more or less, some babies may have difficulty even holding their head for a long time, but with the support of physiotherapy, they complete the developmental steps at their own pace.
Individuals with Down Syndrome may be more prone to certain disorders. Therefore, it is vital to carry out health checks without interruption and on time, and to receive the right health consultancy. Please refer to the Health Checklist.
Do people with Down syndrome have medical problems?
Some medical problems are common among people with down syndrome.
These are;
40-50% of babies born with Down syndrome are born with a heart problem, half of them need heart surgery.
A serious number of people with Down syndrome have hearing and vision problems.
Thyroid disorders
Weak immune system
Respiratory problems, cough and cold
Stomach and intestinal disorders
However, Most of these diseases can be cured thanks to advanced and increasing medical services. Health problems are detected early and treated before they become serious problems.
These problems occur in other people, not just those with Down Syndrome.
We can talk about the fact that people with Down Syndrome can live longer with improved and increasing medical services. While the expected lifespan is now 60-65, many people with Down Syndrome live even longer.
How does Down syndrome affect development?
All people with Down syndrome have the same learning disability. Children with Down syndrome learn to walk, talk and toilet train, but they learn the milestones of this development later than their peers.
Early intervention programs for children with learning disabilities are now spreading, helping child development in all areas. These programs include speech and physical therapy as well as home learning programs for children and families.
Children and adults with Down Syndrome can continue to learn just like other people.
With good medical care and the right level of support, people with Down Syndrome can make friends, go to school, get a job, and make decisions for their own lives and futures.
What Can Children with Down Syndrome Do?
These individuals, who were said to be unable to read, can now graduate from high school or even university, learn a second language, work, and lead independent or semi-independent lives. That’s why we should not limit our dreams, but we should not forget that even if our dreams are unlimited, we should evaluate our child correctly and make realistic plans for the future, which is the key to his happiness.
