FREE ESSAY ON DOWN SYNDROME

DOWN SYNDROME

"Each year, three thousand to five thousand people are diagnosed with Down 
Syndrome in the United States. It is found in approximately one out of one thousand all 
live births." (Nadel,37). Down Syndrome occurs when there is an abnormality in 
chromosome 21. Most people with Down Syndrome (approximately ninety-five percent) 
has an extra 21 chromosome. Instead of the normal number of forty-six chromosomes in 
each cell, the individual with Down Syndrome has forty-seven chromosomes. "This 
condition is called trisomy 21."(Pueschel,6) .Down Syndrome is a combination of birth 
defects including some degree of physical abnormalities, musculoskeletal disorders, and 
hypothyroidism.
Granted, individuals with Down Syndrome have distinct physical characteristics. 
Generally they are more similar to the average person in the community than they are 
different. The physical features are important to the physician in making the clinical 
diagnosis. Not every child with Down Syndrome has all the characteristics; some may 
only 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 flattening 
of the back of the head, slanting of the eyelids, small skin folds at the inner corner of
the 
eyes, 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 one

line 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 usually
do 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 Syndrome 
have congenital heart disease" (Marino,63). Many of these children will have to undergo 
cardiac surgery. 
Intestinal abnormalities also occur at a higher frequency in children with Down 
Syndrome. For example, blockages of the esophagus, small bowel, 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."(Pueschel,49) They need to be removed surgically. Other eye problems such as 
cross-eye, 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. 
Maintaining an appropriate diet can prevent these conditions. It is important for 
individuals with Down Syndrome who skeletal problems have also been noted to be 
more common in children with Down Syndrome to get special help, including patients 
with kneecap subluxation, hip dislocation, and atlantoaxial instability. 
The latter condition occurs when the first two neck bones are not well aligned 
because of the presence of loose ligaments. Most of these people, however, do not have 
any symptoms, and "only one to two percent of patients with Down Syndrome have a 
serious neck problem that requires surgery"(Pueschel,217). 
Furthermore, The thyroid gland sits at the base of the front of the neck and makes 
thyroid hormone from iodide, thyroglobulin and tyrosine. This results in the production 
of thyroxine (T4), which is a prohormone and the actual thyroid hormone, T3. Both T3 
and T4 are secreted by the thyroid into the blood stream. 
Hypothyroidism is the most common problem for individuals with Down 
Syndrome. 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
the 
US does a routine screen on all newborns for hypothyroidism. "In newborns and infants 
with Down Syndrome, the most common reason for hypothyroidism is that the thyroid 
did not form correctly in the fetus" (Pueschel, 220).
In acquired hypothyroidism, the most common reasons in toddlers and older 
children with Down Syndrome is autoimmunity (where the body makes antibodies 
against its own thyroid) and thyroidits (where the thyroid tissue becomes replaced with 
white blood cells and fibrous tissue). The symptoms of low thyroid hormone are difficult

to pick up, especially in infants. They include decreased growth, and development, an 
enlarged tongue, decreased muscle tone, dry skin and constipation, all of which might be

usual for an infant with Down Syndrome.
So, it is recommended by specialists that all infants with Down Syndrome be 
checked 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 is 
usually needed for life. "If the individual who is hypothyroid was calm before the 
replacement, 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 genetic 
disorder is a combination of birth defects including some degree of physical 
abnormalities, musculoskeletal disorders, and hypothyroidism. Most people with Down 
Syndrome are not aware of the physical and mental abnormalities that are associated 
with having this genetic disorder.