Download Down Syndrome

DOWN SYNDROME
Your Guide To Better Understanding The Journey
Of Your Consumers With Down Syndrome
WHAT IS DOWN SYNDROME?
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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.
Increased understanding of Down syndrome and early
interventions make a big difference in the lives of both
children and adults with Down syndrome.
There's no way to prevent Down syndrome. However, if one
is at high risk of having a child with Down syndrome or has
already had one child with Down syndrome, they may wish
to consult a genetic counselor before becoming pregnant.
A genetic counselor estimate their chances of having a child
with Down syndrome. He or she can also explain the
prenatal tests that will be offered and help figure out the
pros and cons of testing.
COMMON SYMPTOMS
Children with Down syndrome have a distinct facial appearance.
Though not all children with Down syndrome have the same features,
some of the more common features are:
 Flattened facial features
 Protruding tongue
 Small head
 Upward slanting eyes, unusual for the child's ethnic group
 Unusually shaped ears
 Children with Down syndrome may also have:
 Poor muscle tone
 Broad, short hands with a single crease in the palm
 Relatively short fingers
 Excessive flexibility
 Infants born with Down syndrome may be of average size, 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
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The cause of Down syndrome is one of three types of abnormal cell division
involving chromosome 21. All three abnormalities result in extra genetic material
from chromosome 21, which is responsible for the characteristic features and
developmental problems of Down syndrome. The three genetic variations that
can cause Down syndrome include:
Trisomy 21. More than 90 percent of cases of Down syndrome are caused by
trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead
of the usual two copies — in all of his or her cells. This form of Down syndrome is
caused by abnormal cell division during the development of the sperm cell or the
egg cell.
Mosaic Down syndrome. In this rare form of Down syndrome, children have
some cells with an extra copy of chromosome 21. This mosaic of normal and
abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome. Down syndrome can also occur when part of
chromosome 21 becomes attached (translocated) onto another chromosome,
before or at conception. Children with translocation Down syndrome have the
usual two copies of chromosome 21, but they also have additional material from
chromosome 21 stuck to the translocated chromosome. This form of Down
syndrome is uncommon.
There are no known behavioral or environmental factors that cause Down
syndrome.
CAUSES CONT’D
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Is it inherited?
Most cases of Down syndrome aren't inherited. They're caused
by a mistake in cell division during the development of the
egg, sperm or embryo.
Translocation Down syndrome is the only form of the disorder
that can be passed from parent to child. However, only about 4
percent of children with Down syndrome have translocation.
And only about half of these cases are inherited from one of
the parents.
In 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 extra genetic
material. A balanced carrier has no signs or symptoms of
Down syndrome, but he or she can pass the translocation on to
children.
The chance of passing on the translocation depends on the sex
of the parent who carries the rearranged chromosome 21:
If the father is the carrier, the risk is about 3 percent.
If the mother is the carrier, the risk is about 12 percent.
RISK FACTORS
Some parents have a greater risk of having a baby with Down
syndrome. 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.
COMPLICATIONS
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Heart defects. Approximately half the children with Down syndrome are born
with some type of heart defect. These heart problems can be life-threatening and
may require surgery in early infancy.
Leukemia. Young children with Down syndrome are more likely to develop
leukemia 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. Later in life, people with Down syndrome have a greatly increased
risk of dementia. Signs and symptoms of dementia often appear before age 40 in
people with Down syndrome.
Sleep apnea. Because of soft tissue and skeletal alterations that lead to the
obstruction of their airways, children with Down syndrome are at greater risk of
obstructive sleep apnea.
Obesity. People with Down syndrome have a greater tendency to be obese than
does the general population.
Other problems. Down syndrome may also be associated with other health
conditions, including gastrointestinal blockage, thyroid problems, hearing loss,
skeletal problems and poor vision.
Life expectancy
Life spans have increased dramatically for people with Down syndrome. In 1929,
a baby born with Down syndrome often didn't live to age 10. Today, someone with
Down syndrome can expect to live to 50 and beyond, depending on the severity of
his or her health problems. Life span continues to increase because of early
interventions and better care.
TESTS AND DIAGNOSIS
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Screening tests during pregnancy
Various screening tests can help identify whether there is high risk of
carrying a baby with Down syndrome. Blood tests typically have been
offered around the 16th week of pregnancy to screen for Down
syndrome, spina bifida and various other chromosomal disorders.
For an earlier risk assessment, the first trimester combined test, done
in two steps from the week 11 to week 13 of pregnancy, may be the
best choice. About 5 percent of women who undergo the first trimester
combined test have a false-positive result, meaning they're identified
incorrectly as having a high risk of delivering a baby with Down
syndrome. The first trimester combined test includes:
Ultrasound. The doctor uses ultrasound to measure a specific region
on the back of a baby's neck. This is known as a nuchal translucency
screening test. When abnormalities are present, more fluid than
usual tends to collect in this tissue.
Blood tests. Results of the ultrasound are paired with blood tests
that measure levels of pregnancy-associated plasma protein-A (PAPPA) and a hormone known as human chorionic gonadotropin (HCG).
Abnormal levels of PAPP-A and HCG may indicate a problem with
the baby.
TESTS AND DIAGNOSIS CONT’D
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If early assessment isn't the first priority, you can have full
integrated testing, which is done in two parts during the first two
trimesters of your pregnancy. The results of the two parts are
combined to estimate your risk that the baby has Down syndrome.
Only about 1 percent of women have a false-positive result with full
integrated testing, so fewer women require more invasive testing.
First trimester. Part one includes an ultrasound to measure nuchal
translucency and a blood test to measure PAPP-A.
Second trimester. Done at 15 to 20 weeks of pregnancy, the quad
screen measures the blood level of four pregnancy-associated
substances, alpha-fetoprotein, estriol, HCG, and inhibin A.
If a screening test indicates a high risk of Down syndrome, a more
invasive test may be used to determine whether the baby actually has
Down syndrome.
About one in 20 women will have a positive result with any of these
screening tests — far more than those who eventually deliver a baby
with a chromosomal abnormality. In fact, most women who have a
positive result from a screening test deliver healthy babies.
TESTS AND DIAGNOSIS CONT’D
Diagnostic tests during pregnancy
If the screening tests are positive or worrisome or if at high risk of having a baby with
Down syndrome, further testing to confirm the diagnosis may be necessary. Diagnostic
tests that can identify Down syndrome include:
 Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn
through a needle inserted into the mother's uterus. This sample is then used to analyze the
chromosomes of the fetus. Doctors usually perform this test after 15 weeks of gestation.
The test carries a one in 200 risk of miscarriage.
 Chorionic villus sampling (CVS). Cells taken from the mother's placenta can be used to
analyze the fetal chromosomes. Typically performed between the ninth and 14th week of
pregnancy, this test carries a one in 100 risk of miscarriage.
 Percutaneous umbilical blood sampling (PUBS). Blood is taken from a vein in the
umbilical cord and examined for chromosomal defects. Doctors generally perform this test
after 18 weeks of gestation. This test carries a greater risk of miscarriage than does
amniocentesis or chorionic villus sampling. Generally, this test is only done when speed of
diagnosis is essential.
 Each of these three tests is 98 to 99 percent accurate in diagnosing Down syndrome before
birth.
 Diagnostic tests for newborns
After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance.
If your child displays some or all of the characteristics of Down syndrome, your doctor
probably will order a test called a chromosomal karyotype. This test is an analysis of your
child's chromosomes. If there's an extra chromosome 21 present in all or some of the cells,
the diagnosis is Down syndrome.
TREATMENTS AND DRUGS
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Early intervention programs
Ask a doctor about early intervention programs in the area. These specialized programs — in which children
with Down syndrome are stimulated at an early age with appropriate sensory, motor and cognitive activities
— are available in most states.
Programs vary from location to location, but they usually involve therapists and special educators whose
goal is to help your baby develop motor skills, language, social skills and self-help skills.
Developing a team
If the child has Down syndrome, you'll likely build a team of specialists that, depending on the child's
particular needs, will provide the child's medical care and help him or her develop skills as fully as possible.
In addition to your primary care pediatrician, your team may include:
A pediatric cardiologist
A pediatric gastroenterologist
A pediatric endocrinologist
A developmental pediatrician
An audiologist
A physical therapist
A speech pathologist
An occupational therapist
What to expect
In general, children with Down syndrome usually meet developmental milestones, but it may take them
longer than it does a child without Down syndrome. For example, children with Down syndrome may take
twice as long to sit, crawl, walk or talk. However, early intervention programs, started as soon as possible,
may give kids with Down syndrome the best chance of success.
SOURCE OF INFORMATION
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http://www.mayoclinic.com/health/downsyndrome/DS00182