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7 Facts About Down Syndrome: Causes, Symptoms, and Treatment

    7 Facts About Down Syndrome: Causes, Symptoms, and Treatment

    Chromosomes are little ‘packets’ of genes containing instructions on how our bodies will grow, function, and develop. Most people have 23 pairs or a total of 46 chromosomes in their cells. However, people with Down syndrome have 47 chromosomes because they have an extra copy of chromosome 21. Here are the must-know facts about Down syndrome.

    1. The extra chromosome 21 causes distinct characteristics

    The most common physical signs of a child with Down syndrome are:

    • Small ears
    • Almond-shaped eyes
    • White spots at the colored part of the eyes (irises)
    • Short neck
    • Flattened face, commonly at the bridge of the nose
    • Palmar crease or the one deep crease at the palm of the hands
    • Small hands and feet
    • Loose joints
    • Poor muscle tone
    • Shorter height

    2. Children with Down syndrome also experience learning and behavioral challenges

    A child with Down syndrome may show “stubbornness” and often have tantrums. Additionally, they might experience challenges in:

    3. The exact cause of Down syndrome is still unknown

    One of the most baffling facts about Down syndrome is that scientists still don’t know what causes the extra copy of chromosome 21 to appear.

    What they do know is that the risk of having a child with Down syndrome increases in mothers who give birth at or after the age of 35. The odds are at 1 in 400 by the age of 35 and 1 in 100 at 40.

    But here’s an interesting thing: most babies with Down syndrome were born to mothers younger than 35. Experts explain that this is because, statistically speaking, more births happen in younger women.

    4. There are 3 types of Down syndrome

    One of the significant facts about Down syndrome is that there are 3 kinds. To get a more in-depth idea of these types, we need to know about two other concepts:

    • Our chromosomes are in every cell of our body.
    • When experts analyze chromosomes (karyotyping), they identify them by number; hence we have chromosome pair #1, chromosome pair #2, up to chromosome pair #23.

    Now, here are the 3 types of Down syndrome:

    • Trisomy 21 – The most common type occurring in about 95% of Down syndrome cases. Instead of just two, there are three chromosome 21; it occurs in all the body cells.
    • Translocation – This accounts for about 4% of Down syndrome cases. It happens when an extra part of or a full chromosome 21 can be found in another pair. For instance, there is an extra chromosome 21 in what was supposed to be pair #14.
    • Mosaicism – The rarest type. It happens when some cells in the body have 46 chromosomes, while other cells have 47 because of an extra chromosome 21.

    5. There’s no way to “predict” the full impact of Down syndrome on the child

    A mother can undergo screening tests to assess the risk of having a baby with Down syndrome; however, these tests (ultrasound, blood tests, etc.) cannot offer a definitive diagnosis.

    The diagnosis options are to check their amniotic fluid (amniocentesis) or cell samples from the placenta (chorionic villus sampling) for abnormal chromosomes. The concern is that these tests often have risks for both mother and child.

    At birth, the doctors can look for the physical signs; likewise, they can also take blood samples to do karyotyping.

    But even with these strategies, there’s still no way to predict how the condition will influence a child’s life.

    Down syndrome facts

    6. There are many ways to reduce the impact of Down syndrome

    Down syndrome is a life-long condition that can be managed through several strategies, including:

    • Close monitoring of the child’s growth and development, especially since kids with Down syndrome are at a higher risk of experiencing complications, like hearing and vision problems, thyroid abnormalities, and heart problems.
    • Physical therapy to improve their muscle strength.
    • Speech therapy to help them better communicate.
    • Behavioral therapy to guide them in managing their emotions
    • Occupational therapy to help them gain skills for activities of daily living

    7. There’s still no way to prevent Down syndrome

    Last in our facts about Down syndrome is that we cannot prevent it as of the moment. Experts strongly advise setting an appointment with a genetic counselor to help parents better understand their chances of having a child with Down syndrome.

    Learn more about Behavioral and Developmental Disorders here.


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    What are common symptoms of Down syndrome? https://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms Accessed February 5, 2021 Down Syndrome https://kidshealth.org/en/parents/down-syndrome.html Accessed February 5, 2021 TWELVE FACTS FOR DOWN SYNDROME AWARENESS MONTH https://www.pediatricsoffranklin.com/practice-news/twelve-facts-for-down-syndrome-awareness-month/ Accessed February 5, 2021 Facts about Down Syndrome https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html Accessed February 5, 2021 Down Syndrome Facts https://www.ndss.org/about-down-syndrome/down-syndrome-facts/ Accessed February 5, 2021 How is Down syndrome treated? https://my.clevelandclinic.org/health/diseases/17818-down-syndrome/management-and-treatment Accessed February 5, 2021
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    Written by Lorraine Bunag, R.N. Updated Feb 15, 2021
    Fact Checked by Hello Doctor Medical Panel
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