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