Down Syndrome

by shae thomas

what is down syndrome?

Down syndrome is a chromosomal disorder that includes a combination of birth defects. Children born with down syndrome have some degree of intellectual disability, characteristic facial features, as well as heart defects and other health problems. The severity of these problems depends on the child, as some range from low functioning down syndrome to high functioning down syndrome.

causes to down syndrome

Down syndrome is caused by extra genetic material from chromosome 21. Chromosomes are the structures in cells that contain the genes. Each person normally has 23 pairs of chromosomes, or 46 in all. An individual inherits one chromosome per pair from the mother’s egg and one from the father’s sperm. When an egg and sperm join together, they normally form a fertilized egg with 46 chromosomes. Sometimes something goes wrong before fertilization. A developing egg or sperm cell may divide incorrectly, sometimes causing an egg or sperm cell to have an extra chromosome number 21. When this cell joins with a normal egg or sperm cell, the resulting embryo has 47 chromosomes instead of 46. Down syndrome is called trisomy 21 because affected individuals have three number 21 chromosomes, instead of two. This type of error in cell division causes about 95 percent of the cases of Down syndrome.
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Symptoms

Children with down syndrome have distinct features about their face and body that sets them apart from anyone else. these are some of the features:

  • Eyes that slant upward
  • Small ears that may fold over a little at the top
  • A small mouth, making the tongue appear large
  • A small nose with a flattened nasal bridge
  • A short neck
  • Small hands and feet
  • Low muscle tone
  • Short stature in childhood and adulthood


More than 60 percent of children with Down syndrome have vision problems, including crossed eyes (esotropia), near- or far-sightedness and cataracts. About 75 percent of children with down syndrome have some hearing loss. Hearing loss may be due to fluid in the middle ear (which may be temporary) and/or defects involving the middle or inner ear. Individuals with down syndrome are more likely than unaffected individuals to develop Alzheimer’s disease, which is characterized by progressive memory loss, personality changes and other problems. Children with down syndrome also tend to have many colds and ear infections, as well as bronchitis and pneumonia.

Treatment

Although there is no cure for Down syndrome, children born with the condition can lead productive lives. Everyone born with Down syndrome exhibits some level of cognitive impairment, but this usually falls within the mild to moderate range. Just like other children, babies with Down syndrome will learn basic skills -- such as sitting, walking, talking, and self-care (such as toilet training and bathing) -- but they will do so at a delayed pace. Regular medical care to treat the chronic health problems associated with Down syndrome is also important. Children with Down syndrome should receive regular vision and hearing testing, be evaluated for thyroid dysfunction, and receive the regular childhood immunizations.

Facts About Down Syndrome

  • Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 60 today.
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.
  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4% and mosaicism accounts for about 1%.
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.
  • Down syndrome is the most commonly occurring genetic condition. One in every 691 babies in the United States is born with Down syndrome, or approximately 6,000 births per year. Today, there are more than 400,000 people with Down syndrome living in the United States.
  • People with Down syndrome have feelings just like everyone else in the population. They experience the full range of emotions. They respond to positive expressions of friendship and they are hurt and upset by inconsiderate behavior.