Down Syndrome

Definition
By Mayo Clinic staff
Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental
delays and other problems. Down syndrome varies in severity, so developmental problems
range from moderate to serious.
Down syndrome is the most common genetic cause of severe learning disabilities in children,
occurring in one in every 700 to 800 infants.
ncreased understanding of Down syndrome and early interventions ma!e a big difference in
the lives of both children and adults with Down syndrome.
Symptoms
Children with Down syndrome have a distinct facial appearance. "hough not all children with
Down syndrome have the same features, some of the more common features are#
$lattened facial features
%rotruding tongue
&mall head
'pward slanting eyes, unusual for the child(s ethnic group
'nusually shaped ears
Children with Down syndrome may also have#
%oor muscle tone
Broad, short hands with a single crease in the palm
)elatively short fingers
*+cessive fle+ibility
nfants born with Down syndrome may be of average si,e, but typically they grow slowly and
remain shorter than other children of similar age. Children with Down syndrome also have
some degree of mental retardation, most often in the moderate range.
Causes
-uman cells normally contain ./ pairs of chromosomes. 0ne chromosome in each pair
comes from your father, the other from your mother.
"he cause of Down syndrome is one of three types of abnormal cell division involving
chromosome .1. 2ll three abnormalities result in e+tra genetic material from chromosome .1,
which is responsible for the characteristic features and developmental problems of Down
syndrome. "he three genetic variations that can cause Down syndrome include#
Trisomy 21. More than 30 percent of cases of Down syndrome are caused by trisomy
.1. 2 child with trisomy .1 has three copies of chromosome .1 4 instead of the usual
two copies 4 in all of his or her cells. "his form of Down syndrome is caused by
abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome. n this rare form of Down syndrome, children have some
cells with an e+tra copy of chromosome .1. "his mosaic of normal and abnormal cells
is caused by abnormal cell division after fertili,ation.
Translocation Down syndrome. Down syndrome can also occur when part of
chromosome .1 becomes attached 5translocated6 onto another chromosome, before or
at conception. Children with translocation Down syndrome have the usual two copies
of chromosome .1, but they also have additional material from chromosome .1 stuc!
to the translocated chromosome. "his form of Down syndrome is uncommon.
"here are no !nown behavioral or environmental factors that cause Down syndrome.
Is it inherited?
Most cases of Down syndrome aren(t inherited. "hey(re caused by a mista!e in cell division
during the development of the egg, sperm or embryo.
"ranslocation Down syndrome is the only form of the disorder that can be passed from parent
to child. -owever, only about 7 percent of children with Down syndrome have translocation.
2nd only about half of these cases are inherited from one of the parents.
n these translocation cases, the mother or father is a balanced carrier of the translocation,
which means he or she has some rearranged genetic material, but no e+tra genetic material. 2
balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the
translocation on to children.
"he chance of passing on the translocation depends on the se+ of the parent who carries the
rearranged chromosome .1#
f the father is the carrier, the ris! is about / percent.
f the mother is the carrier, the ris! is about 1. percent.
Risk factors
&ome parents have a greater ris! of having a baby with Down syndrome. )is! factors
include#
d!ancin" maternal a"e. 2 woman(s chances of giving birth to a child with Down
syndrome increase with age because older eggs have a greater ris! of improper
chromosome division. By age /8, a woman(s ris! of conceiving a child with Down
syndrome is 1 in 700. By age 78, the ris! is 1 in /8. -owever, most children with
Down syndrome are actually born to women under age /8 because younger women
have far more babies.
#a!in" had one child with Down syndrome. "ypically, a woman who has one child
with Down syndrome has about a 1 percent chance of having another child with
Down syndrome.
$ein" carriers of the "enetic translocation for Down syndrome. Both men and
women can pass the genetic translocation for Down syndrome on to their children.
Complications
Children with Down syndrome can have a variety of complications, including#
#eart defects. 2ppro+imately half the children with Down syndrome are born with
some type of heart defect. "hese heart problems can be life9threatening and may
re:uire surgery in early infancy.
%eukemia. ;oung children with Down syndrome are more li!ely to develop leu!emia
than are other children.
Infectious diseases. Because of abnormalities in their immune systems, those with
Down syndrome are much more susceptible to infectious diseases, such as
pneumonia.
Dementia. <ater in life, people with Down syndrome have a greatly increased ris! of
dementia. &igns and symptoms of dementia often appear before age 70 in people with
Down syndrome.
Sleep apnea. Because of soft tissue and s!eletal alterations that lead to the obstruction
of their airways, children with Down syndrome are at greater ris! of obstructive sleep
apnea.
&'esity. %eople with Down syndrome have a greater tendency to be obese than does
the general population.
&ther pro'lems. Down syndrome may also be associated with other health
conditions, including gastrointestinal bloc!age, thyroid problems, hearing loss,
s!eletal problems and poor vision.
%ife e(pectancy
<ife spans have increased dramatically for people with Down syndrome. n 13.3, a baby born
with Down syndrome often didn(t live to age 10. "oday, someone with Down syndrome can
e+pect to live to 80 and beyond, depending on the severity of his or her health problems. <ife
span continues to increase because of early interventions and better care.
Tests and dia"nosis
By Mayo Clinic staff
&creening for Down syndrome is offered as a routine part of prenatal care. 2 mother(s age has
traditionally been a factor in the decision to screen for Down syndrome. But now, the
2merican College of 0bstetricians and =ynecologists recommends offering various
screening tests for Down syndrome to all pregnant women, regardless of age. ;our health
care provider can help you weigh the pros and cons of these tests for you.
Screenin" tests durin" pre"nancy
>arious screening tests can help identify whether you have a high ris! of carrying a baby with
Down syndrome. Blood tests typically have been offered around the 1?th wee! of pregnancy
to screen for Down syndrome, spina bifida and various other chromosomal disorders.
f you want an earlier ris! assessment, the first trimester combined test, done in two steps
from the wee! 11 to wee! 1/ of pregnancy, may be your best choice. 2bout 8 percent of
women who undergo the first trimester combined test have a false9positive result, meaning
they(re identified incorrectly as having a high ris! of delivering a baby with Down syndrome.
"he first trimester combined test includes#
)ltrasound. "he doctor uses ultrasound to measure a specific region on the bac! of a
baby(s nec!. "his is !nown as a nuchal translucency screening test. @hen
abnormalities are present, more fluid than usual tends to collect in this tissue.
$lood tests. )esults of the ultrasound are paired with blood tests that measure levels
of pregnancy9associated plasma protein92 5%2%%926 and a hormone !nown as human
chorionic gonadotropin 5-C=6. 2bnormal levels of %2%%92 and -C= may indicate a
problem with the baby.
f early assessment isn(t your first priority, you can have full integrated testing, which is done
in two parts during the first two trimesters of your pregnancy. "he results of the two parts are
combined to estimate your ris! that your baby has Down syndrome. 0nly about 1 percent of
women have a false9positive result with full integrated testing, so fewer women re:uire more
invasive testing.
*irst trimester. %art one includes an ultrasound to measure nuchal translucency and a
blood test to measure %2%%92.
Second trimester. Done at 18 to .0 wee!s of pregnancy, the :uad screen measures
your blood level of four pregnancy9associated substances, alpha9fetoprotein, estriol,
-C=, and inhibin 2.
f a screening test indicates a high ris! of Down syndrome, a more invasive test may be used
to determine whether your baby actually has Down syndrome.
2bout one in .0 women will have a positive result with any of these screening tests 4 far
more than those who eventually deliver a baby with a chromosomal abnormality. n fact,
most women who have a positive result from a screening test deliver healthy babies.
Dia"nostic tests durin" pre"nancy
f your screening tests are positive or worrisome or you(re at high ris! of having a baby with
Down syndrome, you might consider further testing to confirm the diagnosis. Diagnostic tests
that can identify Down syndrome include#
mniocentesis. 2 sample of the amniotic fluid surrounding the fetus is withdrawn
through a needle inserted into the mother(s uterus. "his sample is then used to analy,e
the chromosomes of the fetus. Doctors usually perform this test after 18 wee!s of
gestation. "he test carries a one in .00 ris! of miscarriage.
Chorionic !illus samplin" +C,S-. Cells ta!en from the mother(s placenta can be
used to analy,e the fetal chromosomes. "ypically performed between the ninth and
17th wee! of pregnancy, this test carries a one in 100 ris! of miscarriage.
.ercutaneous um'ilical 'lood samplin" +.)$S-. Blood is ta!en from a vein in the
umbilical cord and e+amined for chromosomal defects. Doctors generally perform
this test after 18 wee!s of gestation. "his test carries a greater ris! of miscarriage than
does amniocentesis or chorionic villus sampling. =enerally, this test is only done
when speed of diagnosis is essential.
*ach of these three tests is 38 to 33 percent accurate in diagnosing Down syndrome before
birth.
Dia"nostic tests for new'orns
2fter birth, the initial diagnosis of Down syndrome is often based on the baby(s appearance.
f your child displays some or all of the characteristics of Down syndrome, your doctor
probably will order a test called a chromosomal !aryotype. "his test is an analysis of your
child(s chromosomes. f there(s an e+tra chromosome .1 present in all or some of the cells,
the diagnosis is Down syndrome.