Genes are the codes that determine all human traits from height to hair and eye color. Genes determine if you are at a higher risk of developing certain diseases or the size of your feet. Genes are inherited and are made up of chromosomes. Typically, there are 46 chromosomes in every cell. 23 are from one parent, 23 from the other.
Down syndrome, also known as Trisomy 21, occurs when there is an error on the 21st chromosome. In Down syndrome, a person has an extra copy (or portion) of this chromosome. Most people with Down syndrome have 3 copies of chromosome 21. Some with Down syndrome have a portion of chromosome 21 attached to a different chromosome. While others have a combination of the two.
That extra genetic material causes the developmental and physical characteristics of Down syndrome. People diagnosed with Down syndrome have varying abilities, just like everyone else.
According to The National Institutes of Health, “Down syndrome occurs in about 1 in 800 newborns.” It is the most common trisomy disorder.
Similar to other trisomy disorders such as Edward Syndrome and Patau Syndrome, the risk of having a child with Down syndrome increases with maternal age.
The actual ‘cause’ of Down syndrome is not known.
Most people are familiar with “the look” of Down syndrome, but symptoms generally include:
• Simian crease across hands and feet
• Upward slanted eyes
• Small ears
• Hearing loss
• Flat bridge of the nose
• Protruding tongue
• Poor feeder
• Developmental delays
• Decreased muscle tone (hypotonia)
• Short stature
• Short neck
Down syndrome, like other chromosome abnormalities, can be diagnosed during pregnancy. Prenatal screening, both non-invasive and invasive testing, checks for the probability of Down syndrome. An amniocentesis or chorionic villus sampling could provide certainty.
Due to the common traits of Down syndrome, it can usually be (preliminarily) diagnosed based on physical characteristics at, or shortly after birth. Following birth, genetic testing can be done to confirm the diagnosis. Other tests may include EKG, echocardiogram, swallow studies, and other testing specific to the individual’s symptoms.
Treatments for Down syndrome are based on symptoms and may include feeding tubes; surgery; physical, speech, and occupational therapy.
The life expectancy for Down syndrome is great. Early intervention with services and therapies to help with physical limitations, speech, and activities of daily living, go a long way toward having a great quality of life. Those with Down syndrome can live full lives with services in the community. Like us, they can live independently, work, marry, and have happy families and happy lives.
March 21 is recognized as World Down Syndrome Day and is set aside to bring awareness to this disorder.
Please check out the resources below to see how you get involved in your community to help spread the word that people with Down syndrome can and do contribute to our society and deserve support in their endeavor to do so.
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