What types of health problems do children with Down syndrome typically have?
+ About half of babies with Down syndrome have heart defects. Some defects are minor and
may be treated with medications, while others may require surgery. All babies with Down
syndrome should be examined by a pediatric cardiologist. This is a doctor who specializes in
heart diseases of children. Babies with Down syndrome should also have an echocardiogram.
This isa procedure that evaluates the structure and function of the heart by using sound
waves recorded on an electronic sensor that produce a moving picture of the heart and
heart valves. This exam and test should be done in the first two months of life, so that any
heart defects can be treated.
+ Some babies with Down syndrome are born with intestinal malformations that require
surgery.
+ Children with Down syndrome are at increased risk for visual impairment, Common visual
problems include crossed eyes, near- or farsightedness, and cataracts, Most visual problems
can be improved with glasses, surgery, or other treatments. A pediatric ophthalmologist
should be consulted within the first year of life, This is a doctor who specializes in
‘comprehensive eye care and provides examinations, diagnosis, and treatment for a variety of
eye disorders.
+ Children with Down syndrome may have hearing loss because of fluid in the middle ear, a
nerve defect, or both. All children with Down syndrome should have regular vision and
hearing examinations so any problems can be treated before they hinder development of
language and other skills.
+ Children with Down syndrome are at increased risk for thyroid problems and leukemia. They
also tend to have many colds, as well as bronchitis and pneumonia. Children with Down
syndrome should receive regular medical care, including childhood immunizations. The
National Down Syndrome Congress publishes a "Preventive Medicine Checklist” that
outlines which checkups and medical tests are recommended at various ages.
How significant is the degree of intellectual disak
syndrome?
lity that accompanies Down
The degree of intellectual disability that accompanies Down syndrome varies widely. It ranges
from mild to moderate to severe. However, mast intellectual disability falls within the mild to
moderate range. There is no way to predict the mental development of a child with Down
syndrome based on their physical features,
What disabilities does a child with Down syndrome have?
Children with Down syndrome can usually do most things that any young child can do, such as
walking, talking, dressing, and being toilet trained, However, they generally do these things,
later than other children. The exact age that these developmental milestones will be achieved
cannot be predicted. However, early intervention programs, beginning in infancy, can help
these children achieve their individual potential.
Can a child with Down syndrome go to school?
Yes. There are special programs beginning in the preschool years to help children with Down
‘syndrome develop skills as fully as possible. Along with benefiting from early intervention andspecial education, many children can be integrated into the regular classroom, to some extent.
The outlook for children with Down syndrome is far brighter than it once was. Many will learn
to read and write and participate in diverse childhood activities, both at school and in their
neighborhoods. While special work programs are designed for adults with Down syndrome,
many can hold regular jobs. Today, an increasing number of adults with Down syndrome live
semi-independently in community group homes. They take care of themselves, participate in
household chores, develop friendships, partake in leisure activities, and work in their
communities.
Can people with Down syndrome marry?
‘Some people with Down syndrome marry. Although there have been rare exceptions, most
‘men with Down syndrome cannot father a child. In any pregnancy, a woman with Down
syndrome has a 50/50 chance of conceiving a child with Down syndrome, although many of the
pregnancies are miscarried.
How is Down syndrome diagnosed?
Since Down syndrome has such a unique group of characteristics, physicians can sometimes
determine whether a baby has Down syndrome simply by physical examination. To confirm the
physical findings, a small blood sample can be taken and the chromosomes can be analyzed to
determine the presence of extra #21 chromosome material. This information is important in
determining the risk in Future pregnancies. (Translocation Down syndrome and mosaic Down
syndrome have different recurrence risksin future pregnancies).
‘Chromosomal abnormalities such as Down syndrome can often be diagnosed before birth by
analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can
also give information about the possibilty of Down syndrome, but ultrasound is not 100,
percent accurate. Many babies with Down syndrome may look the same on ultrasound as those
without Down syndrome. A chromosome analysis, whether performed on a blood sample, cells
from the amniotic fluid, or placenta, is very accurate.
Can Down syndrome be cured or prevented?
There is no cure for Down syndrome. Doctors are net certain how to prevent
‘the chromosomal error that causes Down syndrome. To date, there is no
reason to believe that a parent could have done anything to cause or prevent
the birth of a baby with Down syndrome. However, a recent study suggests
‘that some women who have had a baby with Down syndrome had an
abnormality in how their body metabolizes, or processes, the B vitamin folic
acid. If confirmed, this finding may provide yet ancther reason why all women
who might become pregnant should take a daily multivitemin containing 400
micrograms of folic acid. This has been shown to reduce the risk for certain
birth defects of the brain and spinal cord.
‘Some people claim that various high-dose vitamins given to children with
Down syndrome will improve the mental performance and lessen the degree
of intellectual disability. To date, however, no medical studies have proved
‘that this actually works. Its important for new families to talk with their
physician, other families, and national Down syndrome support agencies to
learn what to expect with Down syndrome and to leern about things that may
be helpful in raising a child with Down syndrome.€ > Ce Secure | tttes/imonnstanfordchidrers.org/=n tcp /defalit=down-syndrome-trsory-21-90-P02356 at @e eO:
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Related Links.
Down Syndrome (Trisomy 21)
Brain and Behavior Center
What are trisomies? Autism Services
‘The term trisomy is used to describe the presence of three chromosomes, rather than the usual
matched pair of chromosomes. For example, if a baby is born with three #21 chromosomes,
rather than the usual pair, then the baby would be said to have “trisomy 21. Trisomy 21 is also
known as Down syndrome. Other examples of trisomy include syndromes like trisomy 18 and
trisomy 13. Again, trisomy 18 or trisomy 13 simply means the child has three copies of the #18
chromosome (or ofthe #13 chromosome) present in each cell ofthe body, rather than the
sual pair
What is Down syndrome?
Down syndrome is genetic disorder that involves birth defects, intellectual
sablities, characteristic facial features, Additionally, often involves heart defects, visual and
hearing impairments, and other health problems. The severity of all ofthese problems varies
greatly among affected individuals. Down syndrome is one of the most common genetic birth
defects, affecting approximately one in about 800 babies. In this country, around 250,000
individuals have Dovin syndrome. Life expectancy among adults with Down syndrome is
about 60 years, though average lifespan varies.
The term Down syndrome comes from Dr. Langdon Down, the doctor who first described the
callection of physical symptoms in 1866. twas not until 1959 that the cause of Down syndrome
the presence of an extra #21 chromosome) was identified.
What causes Down syndrome?
Normally in reproduction, the egg cell of the mother and the sperm cell of the father start out
with the usual number of 46 chromosomes. The egg and sperm cells both undergo a cell
division in which the 46 chromosomes are divided in half, so that both the egg and the sperm.
cells will have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg
with 23 chromosomes, the baby will have a complete set of 46 chromosomes, half from the
father and half from the mother.
‘Sometimes, an error occurs when the 46 chromosomes are being divided in half, and an egg or
sperm cell keeps both copies of the #21 chromosome instead of just one copy. If this egg or
sperm is fertilized, then the baby will have three copies of the #21 chromosome, which is called
trisomy 21, or Down syndrome. The features of Down syndrome are caused by that extra copy
of chromosome #21 being in every cellin the body.
‘Most cases of Down syndrome are caused by trisomy 21. Occasionally, the extra chromosome
#21 or a portion of its attached to another chromosome in the egg or sperm; this may cause
“translocation Down syndrome?’ This is the only form of Down syndrome that may be inherited
from a parent. Some parents have a rearrangement called a balanced translocation, in which the
#21 chromosome is attached to another chromosome, but it does not affect their own health.
Rarely, another form called "mosaic Down syndrome” may occur when an error in cell division
happens after fertilization. These individuals have some cells with an extra chromosorne #21 (47
chromosomes total), and other cells have the usual number (46 total).