Down syndrome is a genetic condition in which a person is born with more chromosomes. The majority of people have 23 pairs of chromosomes, so the total is 46. However, people with Down syndrome, have an extra copy of chromosome 21, for a total of 47. This condition affects the development of the brain and body.

Characteristics

Down syndrome can happen to anyone and randomly and is not the result of parental actions before or during pregnancy. This genetic disorder is also not inherited. However, the risk may increase if you become pregnant over the age of 35. Down syndrome causes differences in a person's physical, cognitive, and behavioral characteristics, but the symptoms and severity will vary.

1. Physical Signs

The physical signs of a person with Down syndrome are usually visible from birth and become more obvious as they grow. Characteristics include a flat face, protruding tongue, narrow eyes pointing upwards, short neck, small ears, hands, and feet, weak muscle tone at birth, little finger pointing inward, only having one crease on the palm, and lower than average. -average people his age.

Children with Down syndrome have distinctive physical characteristics that make them special

2. Cognitive Signs

A person with Down syndrome may experience challenges related to cognitive development. As a result, intellectual disability occurs. This means that their ability to achieve developmental milestones will be different from other children. For example, from the way they move, walk, talk, learn, and play. This delay means it takes them longer to take their first steps, say their first words, learn to urinate on their own, and eat independently.

3. Behavioral Signs

Due to the difficulties that occur, someone with Down syndrome may exhibit certain behaviors. This is because they are unable to communicate their needs and desires effectively. For example, stubbornness, tantrums, difficulty paying attention, and obsessive-compulsive behavior.

Children with Down syndrome will have a short attention span

Reason

Down syndrome is caused by the presence of an extra chromosome. This occurs due to the way cells on chromosome 21 divide. Supposedly, each chromosome separates properly, but those with Down syndrome do not. As a result, the baby will have additional copies, bringing the total to 3. This is what causes problems in physical, cognitive, and behavioral development.

There are 3 types of Down syndrome, namely trisomy 21 (there is an extra copy of chromosome 21 in each cell), translocation (there is part or all of chromosome 21 attached to another chromosome), and mosaic (there is an extra chromosome 21 in some cells, but in other cells have a normal number of chromosomes).

Diagnosis

The diagnosis of Down syndrome can be determined through a prenatal screening test (maternal blood test or ultrasound). However, the results of screening tests may not show signs of Down syndrome. Apart from screening tests, Down syndrome can also be diagnosed through diagnostic tests (amniocentesis, Chorionic villus sampling (CVS), or Percutaneous umbilical blood sampling (PUBS). This test is usually a follow-up examination if the screening test results are positive.

Apart from the two examinations above, Down syndrome can also be identified when the baby is born, namely by identifying the physical signs. Next, to confirm the diagnosis, a blood draw may be required, called a karyotype test (to look for an additional 21st chromosome).

Down syndrome is a genetic disorder that affects the lives of sufferers, starting from distinctive physical characteristics, and challenges in cognitive development, to behavior. This condition does not occur due to certain actions of the parents, nor is it an inherited disease. Come on, read other Fitie articles!