Child with Down Syndrome

Down syndrome (DS) is a condition in which the person has an extra chromosome. Check out this list of 10 facts to learn more about Down syndrome.

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Facts About Down Syndrome

1. Down syndrome occurs in approximately one in 700 births.

DS is the most common chromosomal condition diagnosed in the United States. Around 6,000 babies — or one in 700 — are born with DS every year.

2. There are three types of Down syndrome.

  • Trisomy 21: In 95% of cases, babies born with DS have one extra copy of chromosome 21, giving them three total.
  • Translocation: In 3% of cases, a partial or whole chromosome is attached (translocated) to a different chromosome rather than being a separate chromosome 21.
  • Mosaic: In about 2% of cases, some of the person’s cells have three copies of chromosome 21, but other cells have two copies. Children with mosaic Down syndrome have fewer characteristics of Down syndrome.

3. Down syndrome has been depicted in historical paintings from the 15th and 16th centuries.

Down syndrome is not new — in fact, the first evidence of its existence dates back 2,500 years. The facial features of DS are found in some ancient pottery and paintings. The syndrome is named after John Langdon Down, an English doctor who published a clinical description in 1866.

4. Prenatal screening for Down syndrome is available.

Doctors use maternal blood samples and ultrasound to detect DS in the early stages of pregnancy. Since the condition is more likely in pregnant women age 35 and older, screening tests are commonly recommended for that age group. If a screening test shows signs of possible Down syndrome, more invasive prenatal diagnostic tools — such as amniocentesis and chorionic villus sampling — can diagnose or confirm DS.

5. Other health problems can occur with Down syndrome.

While Down syndrome affects every person differently, people with DS are at a higher risk for certain health issues. Hearing problems, eye issues, and ear infections are common, as are congenital heart defects. In adulthood, potential health problems include sleep apnea, thyroid disease, and earlier onset of Alzheimer disease.

6. While every person with Down syndrome is different, some characteristics are common.

  • Delays in development
  • Hypotonia (low muscle tone)
  • Almond-shaped eyes
  • A flat nasal bridge
  • A short neck
  • Small ears
  • A small chin
  • Small feet and hands with short fingers.
  • Shorter height

7. There are health care guidelines in place to guide primary care providers to effectively care for people with DS.

The American Academy of Pediatrics has developed health care guidelines to help health care professionals and families provide proper preventive care. By following these guidelines, many medical conditions can be treated early or even prevented. Health care guidelines for adults with Down syndrome will be available soon.

8. The family and personal impact of having a child with Down syndrome is overwhelmingly positive.

Studies on the impact of DS on families show that 96% of parents did not regret having a child with Down syndrome, while 96% of siblings wouldn’t trade their sibling with Down syndrome for a sibling without it. And 99% of people with Down syndrome say that they are happy with their life.

9. The life expectancy for people living with Down syndrome continues to increase.

In the 1960s, the average life expectancy for children with DS was age 10. Today, that number is age 60 and higher, thanks to new therapies and medical care that improve quality of life for people with DS.

10. People with DS are living higher quality lives than ever before, thanks to appropriate medical care, supportive therapies, and educational options.

People with DS benefit from medical care options that were not available years ago. From speech therapy, physical therapy, and occupational therapy to inclusive educational environments, people with DS have more opportunities than ever before.

Sources

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125364/

https://jbiomedsci.biomedcentral.com/articles/10.1186/s12929-015-0138-y

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

1Having a son or daughter with Down Syndrome: Perspectives from mothers and fathers. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2335-47. doi: 10.1002/ajmg.a.34293. Epub 2011 Sep 13.PMID: 21915989

2Having a brother or sister with Down syndrome: Perspectives from siblings. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2348-59. doi: 10.1002/ajmg.a.34228. Epub 2011 Sep 9.PMID: 21910244

3Self-perceptions from people with Down syndrome. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2360-9. doi: 10.1002/ajmg.a.34235. Epub 2011 Sep 9.PMID: 21910246

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