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The cause is unknown and multiple theories exist.
Down syndrome (DS) is a genetic disorder that is
caused by an extra chromosome 21 that is present in
all or some of the individual's cells.
There are three types of
abnormalities in Down
The first is called trisomy 21 and is the
most common form of DS. With trisomy
21, the individual has an extra
chromosome 21, which results in a total
of 47 chromosomes in each cell rather
than the typical 46.
The second is called mosaicism and
is the least common form of DS. In
this case, only some of the cells
contain 47 chromosomes, while the
other cells contain an accurate 46.
The third type is called
translocation where the extra
chromosome attaches (or
translocates) to a different
chromosome, such as 14 or 22.

The additional chromosome is almost always the result of faulty
cell division, in either the egg or sperm, resulting in 3 chromosome
21s (2 from the egg and 1 from the sperm, or vice-versa). Though
the extra chromosome could come from either the father or the
mother, only 5% of the cases have been traced to the father.
Women age 35 years and older have a significantly increased
chance of having a child with DS, however, 80% of children born
with DS are actually born to mothers under the age of 35 years due
to higher fertility rates.

DS is one of the most common chromosome
It is estimated that the incidence is between 1 in 800 to 1,000
live births. There are approximately 350,000 individuals in the
United States with DS. It occurs in all racial, ethnic, and
socioeconomic groups. Recent research shows that slightly
more males than females are born with DS in comparison
with the general population.

Down syndrome was first accurately described in 1866 by an
English physician named John Langdon Down. Then, in 1959, a
French physician named Jerome Lejeune identified Down
syndrome as a chromosome anomaly. It was Lejeune who
observed 47 chromosomes in individuals with DS, rather than 46

The cause of DS is not known, however, some experts believe that
hormonal abnormalities, x-rays, viral infections, immunological
problems, or genetic predisposition may be the cause of improper
cell division, resulting in the syndrome.

What is known, is that the extra chromosome 21 causes an extra
dose of some proteins, which causes the typical features of the
syndrome. In addition, it should be noted that DS is not the result
of something that either parent did or did not do.

Risk factors include:

Advancing maternal age. A woman's chances of giving birth to a
child with Down syndrome increase with age because older eggs
have a greater risk of improper chromosome division. By age 35, a
woman's risk of conceiving a child with Down syndrome is 1 in 400.
By age 45, the risk is 1 in 35. However, most children with Down
syndrome are actually born to women under age 35 because
younger women have far more babies.

Having had one child with Down syndrome. Typically, a woman
who has one child with Down syndrome has about a 1 percent
chance of having another child with Down syndrome.

Being carriers of the genetic translocation for Down
syndrome. Both men and women can pass the genetic
translocation for Down syndrome on to their children.


The Chromosomes
Chromosomes are thread-like structures composed of DNA and other
proteins. They are present in every cell of the body and carry the
genetic information needed for that cell to develop. Genes, which are
units of information, are "encoded" in the DNA.

Human cells normally have 46 chromosomes which can be arranged
in 23 pairs. Of these 23, 22 are alike in males and females; these are
called the "autosomes." The 23rd pair are the sex chromosomes ('X'
and 'Y').

Each member of a pair of chromosomes carries the same information,
in that the same genes are in the same spots on the chromosome.

However, variations of that gene ("alleles") may be present. (Example:
the genetic information for eye color is a "gene;" the variations for
blue, green, etc. are the "alleles.")


So, normal eggs and sperm cells only have 23
chromosomes, when they come together there are 46.

Human cells divide in two ways. The first is ordinary cell
division ("mitosis"), by which the body grows. In this
method, one cell becomes two cells which have the exact
same number and type of chromosomes as the parent
cell. The second method of cell division occurs in the
ovaries and testicles ("meiosis") and consists of one cell
splitting into two, with the resulting cells having half the
number of chromosomes of the parent cell.

This is what a normal set of
chromosomes looks like.
Note the 22 evenly paired
chromosomes plus the sex

The XX means that this person
is a female.

The test in which blood or skin
samples are checked for the
number and type of
chromosomes is called a
karyotype, and the results look
like this picture.
Many errors can occur during cell division. In meiosis, the pairs of
chromosomes are supposed to split up and go to different spots in the
dividing cell; this event is called "disjunction." However, occasionally one pair
doesn't divide, and the whole pair goes to one spot. This means that in the
resulting cells, one will have 24 chromosomes and the other will have 22

This accident is called "nondisjunction." If a sperm or egg with an abnormal
number of chromosomes merges with a normal mate, the resulting fertilized
egg will have an abnormal number of chromosomes. In Down syndrome,
95% of all cases are caused by this event: one cell has two 21st
chromosomes instead of one, the other normal cell has one, so the
resulting fertilized egg has three 21st chromosomes. Hence the scientific
name, trisomy 21.

Recent research has shown that in these cases,
approximately 90% of the abnormal cells are the eggs.
The cause of the nondisjunction error isn't known, but
there is definitely connection with maternal age.

Research is currently aimed at trying to determine the
cause and timing of the nondisjunction event.
Here's the karyotype of a male with trisomy 21:

Three to four percent of all cases of trisomy 21 are due to
Robertsonian Translocation.
In this case, two breaks occur in separate chromosomes, usually the 14th
and 21st chromosomes. There is rearrangement of the genetic material
so that some of the 14th chromosome is replaced by extra 21st

So while the number of chromosomes remain normal, there is a
triplication of the 21st chromosome material. Some of these children may
only have triplication of part of the 21st chromosome instead of the whole
chromosome, which is called a partial trisomy 21.

Translocations resulting in trisomy 21 may be inherited, so it's important
to check the chromosomes of the parents in these cases to see if either
may be a "carrier."

The remainder of cases of trisomy 21 are due
to mosaicism. These people have a mixture of
cell lines, some of which have a normal set of
chromosomes and others which have trisomy
In cellular mosaicism, the mixture is seen in
different cells of the same type. In tissue
mosaicism, one set of cells, such as all blood
cells, may have normal chromosomes, and
another type, such as all skin cells, may have
trisomy 21.


Low muscle tone
Flat facial profile (depressed nasal bridge and small
Flattening of the back of the head
Small hands and feet
An upward slant of the eyes
An abnormal shape of the ear
A single deep crease across the center of the palm
An excessive ability to extend the joints
Fifth finger has one flexion furrow instead of two
Small skin folds on the inner corner of the eyes
Excessive space between large and second toe
Enlargement of tongue in relation to the size of the
Mental retardation (can range from very mild to
severe, however, is typically mild to moderate)
Speech delays
Short stature

There are many physical
characteristics that are associated with
DS. Not every individual has all the
characteristics, however, the following
is a list of the most common traits:

Congenital heart defects
Increased susceptibility to infection
Respiratory problems
Obstructed digestive tracts
Hearing deficits
Eye problems such as cataracts and
Failure to thrive in infancy and obesity in
Thyroid dysfunctions
Skeletal problems (hip dislocations,
atlantoaxial instability)
Increased risk of developing Alzheimer's
disease (over age 35) and leukemia

In addition to the common characteristics, a child with DS may
also have the following medical issues:

Nursing Management:

1. Assess for associated problems.

2. Administer medications which maybe prescribed for associated

3. Implement a plan of care that is the same as for mental retardation.
Include planning and intervention strategies for associated problems
and features.

4. Encourage genetic counseling.

5. Explain hypertonicity and joint hyperextensibility to parents, and that
the childs resultant lack of clinging is physiologic and not a sign of

6. Prevent respiratory infections by clearing the nose with a bulb
syringe, using a cool mist vaporizer, performing chest physiotherapy
when needed, providing good handwashing and avoiding exposure
to infection.

7. When feeding infants and young children, use a small, straight-
handled spoon to push food to the side and back of the mouth.
Feeding difficulties occur due to a protruding tongue and hypotonia.

8. Encourage fluids and foods rich in fiber. Constipation results from
decreased muscle tone, which affects gastric motility.

9. Provide good skin care because the skin is dry and prone to

Nursing Management: continued:

An amniocenteses is the prenatal procedure to diagnose
Down Syndrome. A chromosome test can be done after


Generally, when a child is born with Down syndrome, the appearance
of the child is the first indication that he or she may have the disorder.
Therefore, a chromosome analysis is conducted which looks for three
chromosome 21s or variants as described above. It can also be
diagnosed prenatally by either an amniocentesis or chorionic villus


There is no cure for DS, however, early intervention programs, preschools,
and integrated education can be very beneficial for the child with DS.

With the proper education, many children with DS will learn to read, write,
and participate in school activities. In addition to receiving an early
education, children with DS may benefit from several therapies as well.

Due to the delays in speech that are commonly seen in children with down
syndrome, speech therapy is beneficial. The speech pathologist should
emphasize adequate development of oral muscles used in feeding and
speech articulation, and to focus on developing expressive and receptive
skills to enhance communicative functioning. Due to the low tone found in
children with DS, physical therapy may be useful in improving gross motor
skills such as sitting and walking and improving postural alignment.

Finally, children with DS may also benefit from occupational
therapy to develop fine-motor skills, self help skills, upper extremity
strength, and coordination.