Down syndrome is the most common genetic disorder in America.
People with Down syndrome have mild to moderate disabilities.
There are many supportive programs for people with Down syndrome and their families, helping people with Down syndrome to live healthy and fulfilling lives.
Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome (hence its other name, Trisomy 21). This causes physical and mental developmental delays and disabilities.
Many of the disabilities are lifelong and they can also shorten life expectancy. However, people with Down syndrome can live healthy and fulfilling lives. Recent medical advances as well as cultural and institutional support for people with Down syndrome and their families provide many opportunities to help overcome challenges.
What Causes Down Syndrome?
According to the National Down Syndrome Society (NDSS), about 1 in 700 babies in the United States is born with Down syndrome. It’s the most common genetic disorder in the United States.
A quick explanation of basic genetics can help you understand how it happens. In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes. When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes (46 chromosomes total). Half of the chromosomes are from the mother and half are from the father.
In children with Down syndrome, one of the chromosomes doesn’t separate properly. The baby ends up with three copies, or an extra partial copy, of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical features develop.
Types of Down Syndrome
There are three types of Down syndrome:
Trisomy 21
Trisomy 21 means there is an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome.
Mosaicism
Mosaicism occurs when a child is born with an extra chromosome in some but not all of their cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.
Translocation
In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.
Will My Child Be at Risk for Down Syndrome?
Certain parents have a greater risk of giving birth to a child with Down syndrome. Mothers age 35 and older are more likely to have a baby with Down syndrome than younger mothers. The risk increases the older the mother is. Research shows that paternal age also has an effect — one 2003 study found that fathers over 40 had twice the risk of having a child with Down syndrome.
Other parents who are at greater risk of having a child with Down syndrome include:
people with a family history of Down syndrome
people who carry the genetic translocation
It’s important to remember that no one of these factors mean that you will definitely have a baby with Down syndrome, but statistically and over a large population, they can put you at higher risk.
SYMPTOMS
What Are the Symptoms of Down Syndrome?
Though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, you won’t experience any symptoms of carrying a Down syndrome child.
At birth, babies with Down syndrome usually have certain characteristic signs, including:
flat facial features
small head and ears
short neck
bulging tongue
eyes that slant upward
oddly shaped ears
poor muscle tone
An infant with Down syndrome can be born at normal size but will develop more slowly than a child without the condition.
People with Down syndrome usually have some degree of mental disability, but it’s often mild to moderate. Mental and social development delays may mean that the child could have:
impulsive behavior
poor judgment
short attention span
slow learning capabilities
Medical complications often accompany Down syndrome. These may include:
congenital heart defects
hearing loss
poor vision
cataracts (clouded eyes)
hip problems, such as dislocations
leukemia
chronic constipation
sleep apnea (interrupted breathing during sleep)
dementia (thought and memory problems)
hypothyroidism (low thyroid function)
obesity
late tooth growth, causing problems with chewing
Alzheimer’s, in later life
People with Down syndrome are also more prone to infection. They may struggle with respiratory infections, urinary tract infections, and skin infections.
Down syndrome is the most common genetic disorder in America.
People with Down syndrome have mild to moderate disabilities.
There are many supportive programs for people with Down syndrome and their families, helping people with Down syndrome to live healthy and fulfilling lives.
Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome (hence its other name, Trisomy 21). This causes physical and mental developmental delays and disabilities.
Many of the disabilities are lifelong and they can also shorten life expectancy. However, people with Down syndrome can live healthy and fulfilling lives. Recent medical advances as well as cultural and institutional support for people with Down syndrome and their families provide many opportunities to help overcome challenges.
Check out the National Down Syndrome Society and the National Association for Down Syndrome for help and hope.
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