What Is Down Syndrome?

What is Down syndrome?

Down syndrome is a genetic disorder in which a person has an extra chromosome. A typically developing fetus is born with 46 chromosomes, whereas a child with Down syndrome is born with an extra copy of one of these chromosomes, which is chromosome 21. This causes mental and physical challenges for the child.

Types of Down syndrome:

There are 3 types of Down syndrome:

- Trisomy 21: The most common type, where chromosome 21 is extra, resulting in 3 copies of chromosome 21 in the cell instead of two chromosomes as in a typical person.

- Translocation Down syndrome: This occurs as a result of only a part of chromosome 21 breaking off and attaching to another chromosome.

- Mosaic Down syndrome: This occurs when chromosome 21 is extra in certain cells but not others.

The impact of Down syndrome:

Down syndrome affects many behavioral and cognitive functions, and this impact varies from person to person. Some can live independently, while others continue to need assistance caring for themselves throughout their lives.

Causes:

The extra chromosome 21 leads to the physical features and developmental challenges that affect people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for certain why Down syndrome occurs or how many different factors play a fundamental role in the incidence rate.

One factor that may increase the risk of having a child with Down syndrome is maternal age. A woman who is 35 years old has roughly a 1 in 350 chance of having a child with Down syndrome. This chance gradually increases to about 1 in 100 by age 40, and approximately 1 in 30 at age 45.

Physical features:

- A flattened face

- A small nose

- Slanted, almond-shaped eyes

- A short neck

- Small ears

- Small hands and feet

- A single line across the palm of the hand

- Small pinky fingers that sometimes curve toward the thumb

- Weak muscles or loose joints

- Short stature

Health problems:

Many people with Down syndrome share similar facial features; however, health problems vary from one person to another.

Below are some of the most common health problems among children with Down syndrome:

- Hearing loss

- Temporary pauses in breathing during sleep

- Ear infections

- Eye diseases

- Heart diseases present from birth

Treatment:

Down syndrome is a condition a person lives with throughout life. Early intervention often helps infants and children with Down syndrome improve their physical and mental abilities. Most of these services focus on helping children develop their full potential, and these services include speech and language therapy, occupational therapy, and physical therapy.

Sources:

.https://www.webmd.com/children/understanding-down-syndrome-basics#2

.https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

.https://www.nads.org/resources/facts-about-down-syndrome/

Originally published in Arabic. This English version was produced with AI-assisted translation; the Arabic original remains the reference.