Down syndrome; It is a group of diseases caused by abnormalities in physical and brain functions that occur before birth and due to a gene disorder.
Down syndrome, also known as trisomy 21, is a chromosome disease. The baby's chromosome number is 1 more than normal. This extra chromosome is chromosome number 21.
Down syndrome can be seen in 1 in 700 - 800 births in live newborn babies. It is seen in 2% of babies if the mother is over 35 years old.
The physical characteristics and medical problems of children with Down syndrome vary greatly from child to child. While some children with Down syndrome require a lot of medical treatment and care, others can live healthy lives.
Down syndrome cannot be prevented, but it can be detected before the baby is born. Health problems seen in children with Down syndrome can be treated. But there is no definitive cure for this disease. In other words, the disease continues until the person dies. However, with adequate care and support, children with Down syndrome can be raised to be healthy, happy and able to participate in production in various fields.
What are the causes of Down syndrome?
There are 46 chromosomes in a person's genetic structure. 23 of these come from the mother and 23 from the father. In children with Down syndrome, the total number of chromosomes is 47, not 46, due to an extra chromosome number 21. The source of the extra chromosome is the mother in 80% of pregnancies and the father in 20% of pregnancies. Abnormal physical characteristics and developmental delays in children with Down syndrome occur due to this additional chromosome.
Although no one knows the exact cause of Down syndrome and the chromosome defect that causes the disease cannot be prevented. However, it is known that the risk of this disease is higher in pregnancies aged 35 and over. For example, 30-year-old pregnant women have a 1 in 1000 chance of having a pregnancy with Down syndrome. This rate increases to 1 in 400 in 35-year-old pregnant women and to 1 - 2 in 100 in 40-year-old pregnant women.
How is a child with Down syndrome affected?
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Children with Down syndrome have a flat facial profile, upward slanting eyes and a protruding tongue. Because of these typical facial appearances, babies with Down syndrome They can be easily recognized from the beginning. Sick babies' heads are smaller than normal, the back of their heads are flat, their ears are small, the root of their nose is flat, flat and wide, their palates are narrow and short, and their tongues are mostly protruding. They have short and wide fingers and clinodactyly. There are not two half lines on the palms of the hands, but a single line (simian line) running across the palm of the hand.
The most important feature after the typical facial appearance in the newborn period is the loose muscle structure. It is a basic feature for babies with Down syndrome that the muscles are looser than normal due to low muscle tension; Because of this, babies look particularly loose and flexible. Although this feature can improve over time; Sick children reach developmental milestones such as sitting, crawling and walking later than other children.
Babies with Down syndrome have average height, weight and head size at birth, but their growth rate is slower than their peers and they are smaller than them. They remain as. In addition to constipation, swollen and loose abdominal structure in infants, low muscle tone (strength) also causes sucking and feeding problems.
Delays in speech, feeding, dressing and toilet training of toddlers and older children. visible. The disease affects children's learning abilities to varying degrees. Most children have mild to moderate intellectual disabilities.
The speed at which patients reach their growth and development goals varies. Therefore, it would be wrong to compare patients with Down syndrome with their normally developing siblings or other children with Down syndrome. The growth of children with Down syndrome is slower than normal and their bone ages are delayed. They may be delayed in entering puberty. Male patients are usually infertile, but girls may not be infertile.
The abilities of sick children vary greatly. Therefore, there is no way to predict at birth what their abilities may be in the future.
Other medical problems associated with Down syndrome:
While some patients do not have any significant health problems. ; Some may also have medical defects that require additional medical care. For example; with sick child Almost half of all children have congenital heart defects.
Sick children have high pulmonary blood pressure, which can cause irreversible damage to their lungs. All of these Down syndrome patients must be examined by a pediatric heart disease specialist.
Approximately half of the sick children also have vision and hearing problems. Hearing loss may be due to fluid accumulation in the inner ear or abnormalities in the ear structure. Among vision problems, strabismus and cataracts are common. In order to detect the problems of sick children before they affect their speaking and learning abilities; Patients should be examined regularly by ophthalmologists and ENT specialists.
Other common health problems in children include goiter gland diseases, digestive system problems such as the small intestine or anus being closed at birth, obesity, frequent microbial infections. There is a risk of contracting diseases and an increased risk of blood cancer. Patients with Down syndrome should be examined by a doctor before participating in physical activities. As a lucky feature; Many of these problems can be treated.
The most common cause of death in infancy is heart abnormalities and later microbial-caused febrile diseases, that is, infections.
Who is in the risk group of Down syndrome?
1) Those who have become pregnant at the age of 35 and over,
2) Pregnant women who have a sister or brother with Down syndrome,
3) Before Pregnant women who have given birth to a child with Down syndrome.
How is Down syndrome diagnosed?
Your doctor will recommend that you have tests during your pregnancy to find out whether your baby has Down syndrome. In this case, the following can be done:
*Screening tests can be done in the 1st or 2nd trimester of pregnancy. These may be in the form of ultrasound or blood tests. In the blood test, a triple test can be performed to look for 3 substances called alpha fetoprotein, conjugated estriol and chorionic gonadotropin in the mother's serum. Screening tests can show whether the developing baby (fetus) is at risk of Down syndrome. But these tests can be misleading The slide may make the fetus look like it has Down syndrome or the fetus with Down syndrome look healthy.
*Tests that provide a definitive diagnosis are amniocentesis or chorionic villus biopsy. If the screening tests are suspicious or if the pregnant woman is concerned about Down syndrome, these definitive diagnostic tests should be performed.
After the baby is born, Down syndrome can be diagnosed according to the examination findings. However, even if the examination findings indicate Down syndrome, a blood test must be taken from the baby for a definitive diagnosis. Genetic evaluation is performed by examining the patient's chromosome structure and number in the blood taken. It may take 2-3 weeks for the test to be completed.
Intelligence and mental development characteristics of Down syndrome patients: These patients usually have mental retardation, but it is not severe. Since mental retardation is not severe, these patients benefit from special education. Even if it is late, they can learn to read, write and take care of themselves. They can learn to do simple handicrafts, play musical instruments, and acquire simple vocational skills. Children with Down syndrome are generally affectionate, friendly, can easily adapt to the environment, and have imitation, music and drawing abilities. They may rarely have emotional problems.
Can Down syndrome be prevented?
There is no way to prevent a pregnant woman's baby from having Down syndrome. But it can be prevented for a family to give birth to a baby with Down syndrome. What needs to be done for this is to apply definitive diagnostic tests to pregnant women in the risk group in the first months of pregnancy and to the fetus that is confirmed to have Down syndrome; If the family insists, it is to perform a medical abortion, that is, to terminate the pregnancy.
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