What is Down Syndrome?
Down syndrome is a condition that occurs when a baby has an extra chromosome in the 21st pair of chromosomes.
Down syndrome is a condition that occurs when a baby has an extra chromosome in the 21st pair of chromosomes. Down Syndrome, which is seen in one in 750-1000 births in the world and in our country; It can cause physical growth retardation, characteristic facial appearance and moderate mental retardation. It can be detected during routine testing during pregnancy and during delivery.
This genetic difference, the cause of which has not yet been determined, is manifested by the presence of typical symptoms such as a typical facial feature, almond-shaped eyes, low muscle density, drooping tongue, cleft in the palm of the hand, width between the big toe and the second finger, sometimes together or sometimes several. These children also have congenital heart diseases.
Down Syndrome is a condition that usually causes mild to moderate intellectual disability. A child with Down Syndrome; starting from birth, he needs special support that will enable him to reveal his current potential and prepare him for life.
It is important that families and the specialists dealing with these children initiate and maintain this support as early as possible.
The improvement of medical care and follow-up, the education of families and the acceptance of these children in social life have increased. Children with Down Syndrome are growing up better equipped today compared to previous years.
Risk Factors
Women over 35 are at higher risk of Down Syndrome and other chromosomal abnormalities While the probability of a 20-year-old mother giving birth to a child with Down Syndrome is 1/1441, this risk increases to 1/959 at the age of 30, 1/84 at the age of 40, and 1/44 at the age of 50.
A mother who has previously given birth to a child with Down syndrome has a high probability of having a child with this syndrome again.
Varieties
What Are the Types of Down Syndrome?
Trisomy 21: Trisomy 21, the most common type of Down syndrome, is the presence of 3 chromosomes in the baby's cells, not a pair of 21st chromosomes. It occurs in 95% of individuals with Down syndrome.
Translocation: In this type of Down syndrome, there is an extra 21st chromosome attached to another chromosome.
Mosaic Down Syndrome: In this very rare type of Down Syndrome, some cells contain 46 chromosomes, while others contain 47. The extra chromosome in cells containing 47 chromosomes in these cases is chromosome 21.
The effects of Down Syndrome are very similar in all three types. Sometimes a person with Mosaic Down Syndrome may not have many signs and symptoms because fewer cells have extra chromosomes.
The reasons
What Are the Causes of Down Syndrome?
Each human cell typically contains 23 pairs of chromosomes. One chromosome in each pair comes from a man and one from a woman.
Down Syndrome occurs when the 21st chromosome of the basic reproductive cell cannot be separated during egg or sperm formation and remains paired. As a result, the egg or sperm contains 24 chromosomes instead of 23. While people usually have the 46th chromosome, children with Down Syndrome have 47 chromosomes in society, which leads to various differences.
Down Syndrome occurs as a result of a change in genetic structure. The exact cause of this condition is unknown today. In the most common type of Down Syndrome, there is no hereditary transmission.
In types of Down syndrome called Translocation or Mosaicism, there may be hereditary Decadence (down from family members).
Symptoms
What Are the Symptoms of Down Syndrome?
The symptoms of Down syndrome vary from person to person. It usually causes physical, cognitive and behavioral symptoms.
The diagnosis of Down Syndrome is usually made based on the physical characteristics of this syndrome. When a baby with Down Syndrome is born, the eyes are often tilted upwards, while there is a layer of skin on the inside of the eye. The mouth is open, the tongue may be slightly out.
Physical Symptoms of Down Syndrome
* Small hands and feet
* Shorter stature compared to peers
* Weak muscle tone
* A single transverse line on the palms
* The distance between the 1st and 2nd toes on the foot is greater than normal
In children with Down Syndrome, difficulty in sucking after childbirth, laxity (hypotonia) in the muscles is observed. Neonatal jaundice is often found in these babies. Blood should be taken from the suspected baby and chromosome analysis should be performed.
Cognitive and Behavioral Symptoms Seen in Down Syndrome
* Delays in speech and language development
* Delay in crawling and walking skills
* Attention problems
* Sleep difficulties
* Stubbornness and tantrums
* Delay in toilet training
Diagnostic Methods
How is Down Syndrome Diagnosed?
Down Syndrome can be detected with routine screening tests and diagnostic tests performed during pregnancy. The first sign of Down Syndrome can be seen with ultrasound and a blood test that will be performed between the 11th and 14th weeks of pregnancy.
Ultrasonography looks at the height of the fetus, the transparency of the nape and other anomalies that can be recognized at this stage. In mother's blood, two proteins called PAPP-A and bHCG are also being looked at. This test, known as the dual test, has an 85% sensitivity to catch Down Syndrome. All results are evaluated and the risk is calculated.
Triple and Quadruple Testing
a triple or quadruple test can be performed by taking blood from the mother between the 16-20st weeks. The sensitivity of the triple test to catch Down Syndrome is 65%, while this rate reaches 80% in the quadruple test.
Amniocentesis
Under the guidance of ultrasound, amniocentesis can be performed by taking a sample from the fluid around the fetus with a thin needle.
CVS (Chorionic Villus Sampling)
if the transparency of the Decapitation of the fetus >3 mm is monitored between 11-14st weeks, the risk of chromosomal abnormalities increases to 25% and above, and Chorionic Villus Biopsy is performed for a definitive diagnosis. In addition, this test can be recommended for pregnant women over the age of 35.
At CVS, a piece is taken from the baby's partner with a thin needle. 46 chromosomes can be tested with CVS. It is possible to make a 100 percent diagnosis with CVS and Amniocentesis methods.
Treatment Methods
Down Syndrome Is Not a Disease That Requires Treatment, It Is a Difference.
The health problems and development of children with Down syndrome should be closely monitored. Thanks to this follow-up in early childhood, it is possible for a person to live a healthy and effective life.
The most beneficial action that families will do for their children is to have their annual follow-ups regularly, to ensure their participation in educational life and social life.
In this way, children with Down Syndrome, who follow what life brings behind their peers and have to overcome other people's different perceptions of them, can live a productive and full life. If children with Down Syndrome receive a good education, they can have a profession by showing a predisposition to simple jobs that can take care of themselves.
The Follow-up and Treatment Process of Children with Down Syndrome Against Possible Diseases and Risks Includes
* Follow-up by a Child Health and Disease specialist to monitor the child's development, mental and motor skills, health risks and vaccinations
* Branch specialists (For example, cardiologist, endocrinologist, child geneticist, ENT and ophthalmologist) for the follow-up of health problems that may occur during or after childbirth
* Speech therapy to improve speech skills
* Physical therapy to strengthen muscles and improve motor skills
* Occupational therapy to improve motor skills and facilitate tasks in everyday life
* Behavioral therapy to help manage the emotional difficulties that can accompany Down syndrome.
Some Diseases Can Be Observed More Often in Children with "Down Syndrome". For This Reason, the Treatment of These Diseases Is Carried Out by the Relevant Branch Physicians.
* Hearing problems
* Eye disorders
* Heart problems
* Sleep Apnea
* Intestinal and Stomach Problems (Such as Constipation, reflux and Celiac disease)
*Being more prone to infections
* Thyroid problems
* Autism, difficulties with social skills and communication
* The risk of Alzheimer's in later life
Down Syndrome in Adolescence
Emotional problems may occur in children with Down Syndrome during adolescence. The best way to support her emotional health is to keep her as involved as possible in activities at home, at school, and in the community.
Encouraging children with Down Syndrome to participate in physical activities outside the home at an early age also plays a protective role, especially in terms of increasing obesity in adolescence and beyond.