” are diagnosed with DownSyndrome in the United States. It is found in approximately one out of one thousand alllive births.
” (Nadel,37). Down Syndrome occurs when there is an abnormality inchromosome 21. Most people with Down Syndrome (approximately ninety-five percent)has an extra 21 chromosome. Instead of the normal number of forty-six chromosomes ineach cell, the individual with Down Syndrome has forty-seven chromosomes. “Thiscondition is called trisomy 21.
“(Pueschel,6) .Down Syndrome is a combination of birthdefects including some degree of physical abnormalities, musculoskeletal disorders, andhypothyroidism.Granted, individuals with Down Syndrome have distinct physical characteristics.Generally they are more similar to the average person in the community than they aredifferent.
The physical features are important to the physician in making the clinicaldiagnosis. Not every child with Down Syndrome has all the characteristics; some mayonly have a few, and others may show most of the signs of Down Syndrome.Some of the physical features in children with Down Syndrome include flatteningof the back of the head, slanting of the eyelids, small skin folds at the inner corner of theeyes, depressed nasal bridge, slightly smaller ears, small mouth, decreased muscle tone,loose ligaments, and small hands and feet. “About fifty percent of all children have oneline across the palm, and there is often a gap between the first and second toes”(Pueschel,240). The physical features observed in children with Down Syndrome usuallydo not cause any disability in the child.
Moreover, there are many health problems associated with Down Syndrome.”Sixty to eighty percent of children with Down Syndrome have hearing deficits.”(Pueschel,235).
If there is a significant hearing loss, the child should be seen by an ear,nose and throat specialist. “Forty to forty-five percent of children with Down Syndromehave congenital heart disease” (Marino,63). Many of these children will have to undergocardiac surgery.Intestinal abnormalities also occur at a higher frequency in children with DownSyndrome. For example, blockages of the esophagus, small bowel, and at the anus arenot uncommon in infants with Down Syndrome. These may need to be surgicallycorrected at once in order to have a normal functioning intestinal tract.
Children withDown Syndrome often have more eye problems than other children who do not have thischromosome disorder. For example, “three percent of infants with Down Syndrome havecataracts.”(Pueschel,49) They need to be removed surgically. Other eye problems such ascross-eye, near-sightedness, far-sightedness and other eye conditions are frequentlyobserved in children with Down Syndrome.Another concern relates to nutritional aspects. Some children with DownSyndrome, in particular those with severe heart disease often fail to thrive in infancy.
Onthe other hand, obesity is often noted during adolescence and early adulthood.Maintaining an appropriate diet can prevent these conditions. It is important forindividuals with Down Syndrome who skeletal problems have also been noted to bemore common in children with Down Syndrome to get special help, including patientswith kneecap subluxation, hip dislocation, and atlantoaxial instability.The latter condition occurs when the first two neck bones are not well alignedbecause of the presence of loose ligaments. Most of these people, however, do not haveany symptoms, and “only one to two percent of patients with Down Syndrome have aserious neck problem that requires surgery”(Pueschel,217).Furthermore, The thyroid gland sits at the base of the front of the neck and makesthyroid hormone from iodide, thyroglobulin and tyrosine. This results in the productionof thyroxine (T4), which is a prohormone and the actual thyroid hormone, T3.
Both T3and T4 are secreted by the thyroid into the blood stream.Hypothyroidism is the most common problem for individuals with DownSyndrome. Hypothyroidism is when the thyroid cannot produce enough thyroid hormone.This can be present at birth (congenital) or may be acquired at any age.
Every state in theUS does a routine screen on all newborns for hypothyroidism. “In newborns and infantswith Down Syndrome, the most common reason for hypothyroidism is that the thyroiddid not form correctly in the fetus” (Pueschel, 220).In acquired hypothyroidism, the most common reasons in toddlers and olderchildren with Down Syndrome is autoimmunity (where the body makes antibodiesagainst its own thyroid) and thyroidits (where the thyroid tissue becomes replaced withwhite blood cells and fibrous tissue).
The symptoms of low thyroid hormone are difficultto pick up, especially in infants. They include decreased growth, and development, anenlarged tongue, decreased muscle tone, dry skin and constipation, all of which might beusual for an infant with Down Syndrome.So, it is recommended by specialists that all infants with Down Syndrome bechecked at birth, six months of age, one year of age, and once a year for thyroid function.Treatment is the replacement of thyroid hormone with synthetic thyroxine. Treatment isusually needed for life. “If the individual who is hypothyroid was calm before thereplacement, the replacement will look as if the child has suddenly become hyperactive,when the individual is returning to his or her natural state.
” (Pueschel,242).Indeed, each year many people are diagnosed with Down Syndrome. This geneticdisorder is a combination of birth defects including some degree of physicalabnormalities, musculoskeletal disorders, and hypothyroidism. Most people with DownSyndrome are not aware of the physical and mental abnormalities that are associatedwith having this genetic disorder.