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Down syndrome is a set of
physical and mental traits caused by a
gene problem that happens before birth. Children who have
Down syndrome tend to have certain features, such as a flat face and a short
neck. They also have some degree of
intellectual disability. This
varies from person to person. But in most cases it is mild to moderate.
Down syndrome is a lifelong condition. But with care
and support, children who have Down syndrome can grow up to have healthy,
happy, productive lives.
Down syndrome is caused
by a problem with a baby's
chromosomes. Normally, a person has 46 chromosomes. But most
people with Down syndrome have 47 chromosomes. In rare cases, other chromosome
problems cause Down syndrome. Having extra or abnormal chromosomes changes the
way the brain and body develop.
Experts don't know the exact
cause, but some things increase the chance
that you'll have a baby with Down syndrome. These things are called risk factors.
Your risk of having a baby with Down syndrome is higher if:
If you've had a baby with Down syndrome and are planning another pregnancy, you may want to talk to your doctor about genetic counseling.
Most children with Down
Many children with Down syndrome are also born with
heart, intestine, ear, or breathing problems. These health conditions often
lead to other problems, such as airway (respiratory) infections or hearing
loss. But most of these problems can be treated.
Your doctor may
suggest that you have tests during pregnancy to find out if your baby has Down
syndrome. You may decide to have:
Sometimes a baby is diagnosed after birth. A doctor
may have a good idea that a baby has Down syndrome based on the way the baby
looks and the results of a physical exam. To make sure, the baby's blood will
be tested. It may take 2 to 3 weeks to get the test results.
Starting soon after birth, a
baby with Down syndrome will be tested for health problems, such as eye, ear, or
thyroid problems. The sooner these problems are found,
the better they can be managed. Regular doctor visits can help your child stay
in good health.
Your doctor will make a treatment plan that meets
your growing child's needs. For example, most children with Down syndrome
need speech therapy and
physical therapy. Teens and adults with Down syndrome may need occupational
therapy to learn job skills and learn how to live on their own.
Counseling may help with social skills and emotional
Many professionals will help you and your child through life. But you are vital to your
child's success. To help your child:
Raising a child with Down syndrome has both challenges
and rewards. Remember to take time for yourself. And ask for help when you need
it. Talking to other parents who are raising children with Down syndrome can be
a big help. Ask your doctor or hospital about parent support groups, or contact
a group like the National Down Syndrome Congress.
Learning about Down syndrome:
Living with Down syndrome:
is caused by abnormal cell division in early
embryo development. Normally, a child inherits 46
chromosomes, 23 from each parent. Each chromosome carries DNA, called genes, which tell how the brain and body should develop.
But a fetus with Down
syndrome has extra or abnormal chromosomes. Having extra genetic material changes the way the brain and body develop. The type of Down
syndrome depends on how many cells have the extra or abnormal chromosomes.
Medical experts believe the cell changes most
often start in a woman's egg before or at conception. Less often, the error
occurs in sperm at conception. It is not known what causes the cells to divide
abnormally. One type of Down syndrome, called translocation-type, may be
passed down through families (inherited).
There are more than 50 features of
Down syndrome. But not every person with Down syndrome has all the same features or health problems. Some features and problems are common.
Some health problems related to Down syndrome are:
Although every child is different, you may find it helpful to understand some patterns of Down syndrome as your child grows. It also helps to know that most people who have Down syndrome can flourish and live healthy, happy, and productive lives.
Many of the challenges for people with Down syndrome are related to
intellectual disability and health problems. Problems may come up at different ages.
Your baby may reach
growth and development milestones later than other children do. These may include rolling over, sitting,
standing, walking, and talking.
In this age group, health problems and
developmental disabilities can lead to
behavior problems. For example, a child may develop
oppositional defiant disorder in part because he or
she does not communicate well or understand others' expectations.
at about the same ages for teens with Down syndrome as for other teens.
They may face social difficulties and vulnerabilities, such as abuse, injury, and other types of harm. They may also have a hard time handling strong emotions and feelings. Sometimes these struggles can lead to mental health problems,
Men with Down syndrome most often are sterile and
cannot father children. Many women with Down syndrome can have children, and
they usually have early
Certain things increase the chance
that you will have a baby with Down syndrome. These are called risk factors. Risk factors may be different based on the type of Down syndrome.
Trisomy 21 is the most common type of Down syndrome. People with this type have an extra chromosome (47 instead of 46) in every cell. Risk factors for this type include:
This type of Down syndrome is caused by only some cells producing 47 chromosomes. Mosaicism affects up to 3 out of 100 people who have Down
syndrome.2 Risk factors for mosaicism are similar
to those for trisomy 21.
Translocation type is the only type of Down syndrome that may be passed through families, but most of the time it happens randomly. A person with this type has 46 chromosomes, but part of one chromosome breaks and then attaches to a different chromosome. Up to 5 out of 100 people with Down syndrome have the translocation type.2
You may be a
carrier of the translocation chromosome if you have:
If you are thinking about becoming pregnant and you're at risk for having a child with Down syndrome, you may want to see a geneticist or genetic counselor. They can help you understand your risk and work with you on genetic testing.
Call a doctor immediately if:
Call a doctor if a person with Down syndrome:
The following health professionals can diagnose and/or
treat a person who has Down syndrome:
Other specialists will be needed, such as:
Your child may need to see other specialists if he or she has any complications.
To prepare for your appointment, see the topic Making the Most of Your Appointment.
There are two types of tests for birth defects: screening and diagnostic.
You may decide to have:
The decision to have a test for birth defects is personal. You have to think about your age, your chance of passing on a family disease, your need to know about any problems, and what you might do after you have the test results. Your spiritual beliefs and other values also may affect your decision.
To learn more about testing during pregnancy, see the topic Birth Defects Testing.
If Down syndrome
was not diagnosed before your baby was born, doctors can often get a clear sense of whether your child has Down syndrome by how your baby looks and by doing a physical exam. But traits can be
subtle in a newborn, depending on the
type of Down syndrome that he or she has.
To confirm a diagnosis, a newborn will have a blood sample taken for
chromosomal analysis, called a karyotype test.
Waiting for a formal diagnosis can be stressful.
Try to focus on caring and bonding with your newborn and getting the help you
need. Your doctor or hospital may also be able to refer you to local resources and support groups. For more information, see Treatment Overview.
Another challenge parents may face is finding a way to
tell family members and friends about their child's condition. If you don't
learn that your baby has Down syndrome until after he or she is born, you will
have little time to absorb the information before you need to answer questions
from excited family and friends who are eager for news.
The best approach may be to simply state the facts, such as, "Our baby was diagnosed
with Down syndrome." If you aren't ready to talk about your child's condition
beyond that, say so. You may feel able to tell only one or two people. If this
is the case, consider asking them to share the news with others. Of course,
there is no right or wrong way to tell people. Know that there are resources to help you.
Like all children, your child needs well-baby and well-child visits. He or she also needs regular checkups so your doctor can look for early signs of health issues that are common in people who have Down syndrome. The sooner health issues are found, the more easily they can be managed.
The American Academy of Pediatrics has guidelines about when and how often to check for certain health issues in children who have Down syndrome. The Down Syndrome Medical Interest Group also has health care guidelines for people who have Down
It is common to experience a
wide range of emotions when your baby is born with Down syndrome. While you have joy from your child's birth, you will also need to learn about and care for his or her special health care needs. Most families choose to raise their
child, while some consider foster care or adoption. Support groups and
organizations can assist you in making the best decision for your family.
Treatment for Down syndrome focuses on making sure that your child has
regular medical checkups, helping your child develop, watching for early signs of health problems, and finding support. With treatment and support, you can help your child live a happy, healthy life.
You can help your child stay
healthy by scheduling routine checkups. This will help to identify, manage, and
monitor any diseases and health problems that people with Down syndrome have
a higher chance of developing.
Doctors look for
specific problems at various ages, such as
cataracts and other eye conditions during a baby's
first year. These checkups are also a good time for you and the doctor to talk about any concerns you have. Many parents have
similar concerns as their children grow, including:
Although it may take
extra time for your child to learn and master skills, you may be surprised at
how much he or she will be able to do. With encouragement, your child can learn important skills. You can help your baby learn to walk, talk, or eat by himself. You can help your child make friends and do well in school. Later you can help him or her learn job skills and maybe live independently.
To learn how to help your child throughout life, see Home Treatment.
Your child may develop health problems related to Down syndrome, such as ear infections, dental problems, or behavior issues. He or she may need:
Your doctor or local hospital can refer you to community resources to help you learn what to expect and how
to care for your baby who has Down syndrome.
You may also want to think about joining a
support group. Talking and sharing with other parents
of children with Down syndrome can help you manage difficult feelings. It can
also help you know what kinds of challenges to expect, as well as help you to
discover the joys other parents have experienced with their children. To learn more about support groups, see the Other Places To Get Help section of this topic.
Families of children who have Down syndrome
may need other types of resources, such as:
It's also important to take time for yourself. Common frustrations and frequent highs and lows can all lead
Take good care of yourself so you have the energy to enjoy your child and
attend to his or her needs. For more information, see the topic
There are several
controversial treatments (including supplements,
surgery, and medicine) for Down syndrome that either have not been proved helpful or have questionable benefit. Some treatments may even cause physical harm or have ethical
implications. Talk with your child's doctor before
you try treatments that you and the doctor haven't yet discussed.
cannot be prevented. There are many things you can do to help your child live a happy and healthy life. For more information, see Treatment Overview.
As a parent of a child with
Down syndrome, you play an important role in helping
your child reach his or her full potential. You and your child will have challenges and
Your child will likely take more time than
other children to reach certain milestones. But his or her achievements are just as
significant and exciting to watch. Be patient, and encourage your young child as he or she learns.
Encourage your child to learn, socialize, and be physically active. For example, enroll your child in
classes with other children of the same age. Think of ways you can stimulate
your child's thinking skills without making tasks too difficult. But know
that it is okay for your child to be challenged and sometimes fail.
Enroll your young child (infant
through age 3) in an early-intervention program. These programs have staff who
are trained to monitor and encourage your child's development. Talk with a
doctor about programs in your area.
Keep encouraging your child to learn, socialize, and be physically active. Here are some tips:
Socially, teens who have Down
syndrome have the same needs as everyone else. Most will want to date,
socialize, and form intimate relationships. You can help your child develop healthy relationships by teaching appropriate social skills and behavior. Peer
self-esteem are affected by how well your preteen or
teen addresses these issues.
Here are some tips:
During your child's teen years, you may also want to start planning for your child's future jobs and living
arrangements. Many people who have Down syndrome live
independently as adults in group homes or apartments with support services. But
most group homes and community centers require a basic level of
self-sufficiency, such as being able to eat, dress, and bathe independently.
Vocational training helps many young adults learn how
to work in many settings, such as stores, restaurants, and
Most adults who have Down
syndrome function well in society. They often have regular jobs,
have friends and romantic relationships, and take part in community
An adult with Down syndrome benefits from working outside the
home and having social activities. Having an active lifestyle with continued
learning makes anyone, including a person with Down syndrome, feel more vibrant
and feel that his or her life is meaningful.
Adult day care may be an option. Or the Special Olympics and other activities that emphasize exercise might be options. Encourage
an adult's interests, such as in art or in hobbies such as drawing.
Cunningham FG, et al. (2010). Prenatal diagnosis and
fetal therapy. In Williams Obstetrics, 23rd ed., pp.
287–311. New York: McGraw-Hill Medical.
Haldeman-Englert CR, et al. (2012). Specific chromosome disorders in newborns. In CA Gleason, SU Devaskar, eds., Avery's Diseases of the Newborn, 9th ed., pp. 196–208. Philadelphia: Saunders.
Other Works Consulted
American Academy of Pediatrics, American Academy of
Family Physicians, and American College of Physicians-American Society of
Internal Medicine (2002). A consensus statement on health care transitions for
young adults with special health care needs. Pediatrics,
Bull MJ, et al. (2011). Health supervision for children with down syndrome. Pediatrics, 128(2): 398–406.
Cohen WI (2009). Down syndrome: Care of the child and family. In WB Carey et al., eds., Developmental-Behavioral Pediatrics, 4th ed., pp. 234–245. Philadelphia: Saunders Elsevier.
Driscoll DD, Gross SJ (2008). First trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine, 10(1): 73–75.
Steingass KJ, et al. (2011). Developmental disabilities grown up: Down syndrome. Journal of Developmental and Behavioral Pediatrics, 32(7): 548–558.
Summar K, Lee B (2011). Down syndrome and other abnormalities of chromosome number. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 19th ed., pp. 399–404. Philadelphia: Saunders.
July 1, 2013
John Pope, MD - Pediatrics & Louis Pellegrino, MD - Developmental Pediatrics
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