Down syndrome is a condition in which an individual has an extra chromosome. This condition, which can also be called trisomy, can change the normal course of development of the body. Down syndrome, which causes both mental and physical difficulties, is seen in one out of every 700 babies, according to studies. There are different types and symptoms of Down syndrome. At the same time, there are various causes and risk factors that trigger these causes. Down syndrome in babies can be diagnosed with the help of various screening tests. Diagnosis of Down syndrome can be made through samples taken from the mother before the baby is born. Although it lasts a lifetime, some applications can help reduce the effects of the syndrome.
What is Down Syndrome?
Down syndrome is a disease related to the number of chromosomes. The definition given to having an extra copy of the 21st chromosome is “What is Down syndrome? What causes Down syndrome? It is an answer to your questions. It is also known as Trisomy 21 in medicine because it has a copy of the 21st chromosome. Down syndrome causes some retardation in the body. For example, the normal developmental periods that the child should go through may be delayed. Some mental and physical retardation may be experienced. People associated with this disorder ask, “How many years do patients with Down syndrome live?” also wonders the question. Down syndrome life expectancy is 50-60 years on average. Applications that will maximize this long life span allow them to improve their relationships with other people. For this reason, all kinds of support from the environment help them to establish strong bonds with people.
What are Down Syndrome Symptoms?
Down syndrome symptoms manifest themselves both physically and mentally. The discomfort experienced by individuals with Down syndrome, who look different both in terms of intelligence level and appearance, can be easily understood from the outside. Slower growth and slow development are the most important signs. In general, Down syndrome features are as follows:
- Face, especially in the nose area. straight lines ● Almond-like eyes, sloping upwards
- Short and low neck part
- Ears appearing in a smaller structure
- The tongue is constantly coming out of the mouth
- The formation of white spots in the pupil, especially in the colored part
- Small structure of the hands and feet
- The little fingers are relatively small and curl towards the thumb
- Weakness of the musculature
- Lack of the joints
- Short stature in both children and adults
- Longer appearance of the tongue structure
- Congenital cardiological disorders
- Weaker vision
- Hearing loss
- Hip problems
- Chronic constipation
- Dementia and Alzheimer's in later life
- Problems with mouth structure
- Sleep apnea
- Leukemia
- Obesity
- Respiratory tract, urinary tract and skin infections
What are the Causes of Down Syndrome?
Also called Mongolism Although this disorder is caused by the extra copying of the 21st chromosome, the causes of Down syndrome have not been clearly identified. According to the researches, it has been determined that the extra chromosome causes this. There is no concrete information on the causes and risk factors that trigger the extra copying of the chromosome. At the same time, the information on how many different factors are effective in the duplication of the chromosome is also insufficient. “Is Down syndrome genetic?” The question is often asked when determining the causes. The disease arises from a genetic difference. If the parents are carriers The baby also has a higher risk of having Down syndrome. This makes Down syndrome a genetic disorder, but the syndrome can also occur without being passed on from parents. For example, the baby of a mother who gave birth at a late age has a higher risk of Down syndrome than the baby of a mother who gave birth at an early age. However, the vast majority of mothers who give birth are at a young age. For this reason, although Down syndrome is more likely to be seen in babies of older mothers, it can also be seen in younger mothers.
What are the Types of Down Syndrome?
Although Down syndrome is a disease on its own, There are also different types. The exact differences between the types of Down syndrome cannot be clearly stated because, in general, the symptoms in all types are similar. Although the type of Down syndrome is not clear from the outside, specialists can determine the type of syndrome with various diagnostic methods. The 3 different types of Down syndrome are:
- Trisomy 21: Trisomy 21 is the most common type among individuals with Down syndrome, with a rate of 95%. It is the condition of having an extra copy of chromosome in each cell instead of the normal two copies.
- Translocation Down Syndrome: Only 3% of individuals with Down syndrome have translocation Down syndrome. Translocation Down syndrome involves the displacement of the existing chromosome instead of the extra chromosome.
- Mosaic Down Syndrome: This type is found in 2% of individuals with Down syndrome. A mixed structure is seen in mosaic Down syndrome. In other words, some cells have extra chromosomes. Some cells have a normal structure. Since cells with extra chromosomes are also found in mosaic Down syndrome, the effects of the syndrome can be seen less than other types.
How to Diagnose Down Syndrome?
Down syndrome used to be understandable when the baby was born. Thanks to the developing medical methods, Down syndrome symptoms can be evaluated quickly during pregnancy. Expectant mothers also asked, “What are the normal values of Down syndrome test? Can Down syndrome symptoms be understood during pregnancy? They want to learn how the process is progressing with questions such as: Down with the help of screening and diagnostic tests applied before the baby is born. syndrome can be diagnosed and the values can be examined.
In addition to prenatal screening applications and tests, there are also methods applied after birth. Before birth, separate tests are done in the first trimester and in the second trimester. Ultrasound evaluations and blood tests in the first trimester can give an approximate idea to the experts. If the data obtained according to the scans made by the specialist are not normal, different applications are started after the 15th week.
The second trimester gives more accurate and clear results than the first period. The QMS test performed during this period helps to show defects in the brain and spinal cord between the 15th and 20th weeks. According to the evaluations, if the results are not normal, an approach is adopted by the experts for those with a high risk of Down syndrome. Antenatal specialist may also request additional Down syndrome testing for detailed screenings. Amniocentesis, CVS and PUBS tests are some of these applications.
Your doctor can also examine the baby after birth. Testing for Down syndrome after birth is easier than before birth. Physical examinations and blood tests can give doctors a tangible result. Thanks to prenatal and postnatal practices, parents can learn about their baby's condition well in advance and prepare themselves for it.
What are Down Syndrome Treatment Methods?
Down syndrome is a lifelong disease. In other words, there is no cure for Down syndrome yet. Although there is no cure, specialists can help this process to pass more efficiently with the training they will give to parents. In particular, support programs and various services to be provided to individuals with Down syndrome while they are still in the early stages of life enable the individual to develop himself more easily in the following years. Almost every country has medical practices that facilitate the lives of individuals with Down syndrome. At the same time, the cultural development of individuals with Down syndrome can be supported with the help of various non-governmental organizations and institutions. Programs that will develop motor skills and cognitive abilities along with affective and social skills help the individual to be prepared for life. allows it to happen. It can also allow them to become self-sufficient at a later age. As a result, the abilities of a child with Down syndrome can be enhanced by public schools, private schools and health institutions. Psychological support to parents and training on the developmental process also have a facilitating effect on the child's life.
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