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DOWN

SYNDROME
By
Silviana Wulandika
030.12.258

Definition
Down syndrome (DS) is the most
common cause ofmental
retardationand malformation in a
newborn. It occurs because of the
presence of an extra chromosome. It
was first described in 1866 by Dr. John
L. H. Down (18281896), an English
physician.

Etiology
Down syndrome results when one of three types
of abnormal cell division involving chromosome
21 occurs. The three genetic variations that can
cause Down syndrome include:
Trisomy 21.
Mosaic Down syndrome.
Translocation Down syndrome.
More than 90 percent of the time, Down
syndrome is caused by trisomy 21.

Epidemiology
The Centers for Disease Control and Prevention (CDC)
estimates that about 1 of every 691 babies born in the
United States each year is born with Down syndrome.Each
year about 6,000 babies in the United States are born with
this condition. Approximately 95% of these are trisomy 21.
Maternal ageinfluences the chances of conceiving a baby
with Down syndrome. At maternal age 20 to 24, the
probability is one in 1562; at age 35 to 39 the probability is
one in 214, and above age 45 the probability is one in
19.Although the probability increases with maternal age,
80% of children with Down syndrome are born to women
under the age of 35, reflecting the overall fertility of that
age group. Recent data also suggest thatpaternal age,
especially beyond 42, also increases the risk of Down
syndrome manifesting.

Pathology

Symtopmathology
Babies with Down syndrome tend to be overly quiet, less
responsive, with weak, floppy muscles. Furthermore, a
number of physical signs may be present. These include:

flat appearing face


small head
flat bridge of the nose
smaller than normal, low-set nose
small mouth, which causes the tongue to stick out and
to appear overly large
upward slanting eyes
extra folds of skin located at the inside corner of each
eye, near the nose (called epicanthal folds)

Symtopmathology

rounded cheeks
small, misshapen ears
small, wide hands
an unusual, deep crease across the center of the
palm (called a simian crease)
a malformed fifth finger
a wide space between the big and the second toes
unusual creases on the soles of the feet
overly-flexible joints (sometimes referred to as being
double-jointed)
shorter than normal height
Atc.

Diagnosis
Screening tests during pregnancy
Ultrasound
Blood tests

Diagnostic tests during pregnancy


Amniocentesis
Chorionic villus sampling (CVS)
Percutaneous umbilical blood sampling
(PUBS)

Diagnostic tests for newborns

Therapy
Early intervention programs
in which children with Down syndrome are
stimulated at an early age with appropriate
sensory, motor and cognitive activities
Usually involve therapists and special educators
whose goal is to help your baby develop motor
skills, language, social skills and self-help skills.

Team care
Team care will provide your child's medical care
and help him or her develop skills as fully as
possible

Conclusion