Down Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Down syndrome or Down syndrome is a genetic disorder due to the appearance of an extra chromosome on chromosome 21. Normally, a person only has 46 chromosomes. But in people with Down syndrome, there are 47 chromosomes because of the extra chromosome.
This extra chromosome affects the physical characteristics and learning abilities of people with Down Syndrome. In some cases, children with Down syndrome are also born with heart, respiratory or intestinal problems. However, most of these problems can be overcome.
This condition cannot be cured. However, with the support and attention of the family, children with Down Syndrome can grow without feeling left out and live happily.
Reason
Down syndrome is caused by a genetic disorder, in which there are extra chromosomes in cells. Normally, cells only have one or two pairs of chromosomes. But in Down syndrome, there are 3 number 21 chromosomes, so this disease is also called trisomy 21. In most cases, this syndrome is not inherited but occurs due to genetic mutations in sperm or egg cells.
The possibility of Down’s Syndrome increases with the older the mother age during pregnancy. The risk also increases if a mother has previously given birth to a child with Down Syndrome or one of the parents has Down Syndrome.
Symptom
Symptoms of Down Syndrome that can be seen from birth include:
- Hypotonia or tight muscles
- Small nose and flat nasal bones
- Eyes that slant up and out
- Small mouth with protruding tongue
- Flat back of head
- The palm has only one crease or line
- Broad hands with short fingers
- Lower body weight and length below average
Although people with Down syndrome have the same physical characteristics, they don’t look exactly the same as twins. People with Down syndrome also have different behaviors and abilities.
Sufferers usually experience delayed learning and developmental disorders such as sitting, standing, walking, and talking. In addition, sufferers of Down Syndrome can also experience several health problems, such as:
- Heart diseases such as congenital heart disease (CHD)
- Hearing and vision impairment
- Thyroid disorders
- Recurrent infections such as pneumonia
Diagnosis
Usually, people with Down Syndrome will be diagnosed from birth. In fact, parents can already know it when the baby is still in the womb. There are two tests that can check for Down Syndrome in the fetus, namely:
- Chorionic villus sampling (CVS), which examines samples from the umbilical cord at 11–14 weeks of gestation
- Amniocentesis, which examines samples of amniotic fluid at 15–20 weeks of gestation
Treatment
There is no medication that can cure Down Syndrome. Treatment is aimed at supporting the life of sufferers of this syndrome, such as:
- Collaboration with several specialists
- Support for child development such as speech therapy, language, physiotherapy, and others
- Participate in a support group such as a Down syndrome association
Prevention
There is no action that can be taken to prevent Down Syndrome.