What is Down syndrome?
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The estimated incidence of Down syndrome is between 1 in 750 to 1 in 800 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 350,000 families in the United States who are affected by Down syndrome. There is a wide variation in the abilities, physical development, behavior and personalities of individuals with Down syndrome. Individuals with Down syndrome benefit from loving homes, appropriate medical care, inclusive education and positive public attitudes.
How do children with Down syndrome develop?
It is important to note that a caring and enriching home environment, early intervention and integrated education efforts will have a positive influence on the child’s development.
What are the physical features of a child with Down syndrome?
How may chromosome subtypes are observed in Down syndrome?
The second type is called translocation since the extra 21 chromosome is attached or translocated on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents’ chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in three to four percent of the individuals with Down syndrome.
Another chromosome problem, called mosaicism, is noted in about one percent of individuals with Down syndrome. In this case, some cells have 47 chromosomes and others have 46 chromosomes. Mosaicism is thought to be the result of an error in cell division soon after conception. For the most up to date information make sure you go to the International Mosaic Down Syndrome Association Website, IMDSA. Moasaicism FAQ.
What kind of information can be provided through genetic counseling?
What health concerns are often observed in people with Down syndrome?
Sixty to 80 percent of children with Down syndrome have hearing deficits. Therefore, audiologic assessments at an early age and follow-up hearing tests are indicated. If there is a significant hearing loss, the child should be seen by an ear, nose and throat specialist.
Forty to 45 percent of children with Down syndrome have congenital heart disease. Many of these children will have to undergo cardiac surgery and often will need long term care by a pediatric cardiologist.
Intestinal abnormalities also occur at a higher frequency in children with Down syndrome. For example, a blockage of the food pipe (esophagus), small bowel (duodenum) and at the anus are not uncommon in infants with Down syndrome. These may need to be surgically corrected at once in order to have a normal functioning intestinal tract.
Children with Down syndrome often have more eye problems than other children who do not have this chromosome disorder. For example, three percent of infants with Down syndrome have cataracts. They need to be removed surgically. Other eye problems such as cross-eye (strabismus), near-sightedness, far-sightedness and other eye conditions are frequently observed in children with Down syndrome.
Another concern relates to nutritional aspects. Some children with Down syndrome, in particular those with severe heart disease, often fail to thrive in infancy. On the other hand, obesity is often noted during adolescence and early adulthood. These conditions can be prevented by providing appropriate nutritional counseling and anticipatory dietary guidance.
What educational services and vocational opportunities are available for people with Down syndrome?
Children with Down syndrome, like other children, can benefit from sensory and cognitive stimulation, specific exercises involving gross and fine motor activities, and speech therapy. Also, preschool nurseries play an important role in the young child’s life since exploring the environment beyond the home enables the child to participate in a broader world. Later, the school can give the child a foundation for life through the development of academic skills and physical as well as social abilities. School should provide an opportunity for the child to engage in sharing relationships with others and help to prepare the child to become a productive citizen. Contrary to some views, all children can learn, and they will benefit from placement in a normalized setting with support as needed.
During adolescence, youngsters with Down syndrome should be exposed to prevocational training in order to learn good work habits and to engage in proper relationships with co-workers. Appropriate vocational counseling and job training will result in meaningful employment, and this, in turn, should lead to a feeling of self-worth and of making a contribution to society. In addition, post-secondary school educational opportunities should be made available for young people with Down syndrome.
What attitude should society have?
About the author: Dr. Pueschel, Professor of Pediatrics, Brown University School of Medicine, Providence, RI was awarded The Arc’s 1990 Distinguished Research Award.