Down Syndrome

Topic Overview

What is Down syndrome?

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children with 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, most children with Down syndrome can grow up to have healthy, happy, productive lives.

What causes Down syndrome?

Down syndrome is caused by a problem with a baby’s chromosomes that happens long before the baby is born. Chromosomes are the part of your cells that contain your genetic material, or DNA. Normally, a baby 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 of the chromosome problem. But some things are known to increase the chance that a baby will have Down syndrome. These things are called risk factors. They include:

  • Age of the mother. The risk of having a baby with a genetic problem increases as a woman gets older. Many doctors use 35 and older as the age when risk increases. (Most babies with Down syndrome are born to mothers in their 20s or early 30s, because younger women as a group have more babies than older women do.)
  • Having a brother or sister with Down syndrome.
  • Having a previous pregnancy in which the fetus had Down syndrome.

What are the symptoms?

Most children with Down syndrome have:

  • Distinct facial features, such as a flat face, small ears, slanting eyes, and a small mouth.
  • A short neck and short arms and legs.
  • Weak muscles and loose joints. Muscle tone usually improves by late childhood.
  • Below-average intelligence.

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. Luckily, most of these problems can be treated.

How is Down syndrome diagnosed?

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. A screening test can help show if the baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.

Screening tests include:

  • A blood test and a fetal ultrasound late in the first trimester. The ultrasound looks for thickness in the back of the baby’s neck (nuchal fold), which can be a sign of Down syndrome. This kind of ultrasound is not available in many areas.
  • A blood test called a maternal serum triple screen or quadruple screen in the second trimester. By measuring substances in your blood, these tests can estimate the chance that your baby has Down syndrome or other health problems.

Your doctor may suggest a chromosome (karyotype) test if you have an abnormal screening test result or if you are worried about Down syndrome. A karyotype test has more risks than a screening test. But it can say for sure if your baby has Down syndrome.

Karyotype tests include:

  • Chorionic villus sampling in the first trimester. For this test, the doctor takes a sample of cells from the placenta, either by putting a thin tube through your vagina or by putting a thin needle into your belly.
  • Amniocentesis in the second trimester. For this test, the doctor puts a thin needle into your belly and takes a sample of the liquid (amniotic fluid) that surrounds the baby.

Sometimes a baby is only 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 complete test results.

How is it treated?

Starting soon after birth, a baby with Down syndrome will be tested for common health problems. For example, many babies with Down syndrome have 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 benefit from speech therapy and physical therapy. As your child matures, occupational therapy can help your child learn the skills needed to hold a job and live independently. Counseling may help with social skills and emotional issues.

As you can see, many professionals may have a hand in helping your child through life. But from birth on, parents play a vital role in their child’s success. To do your best for your child:

  • Learn all you can about Down syndrome. This can help you know what to expect and how you can help your child.
  • Find out what type of financial help you can get by contacting your state’s Department of Developmental Disabilities.
  • Check into resources in your area. For example, many states provide free early-intervention programs for children with Down syndrome up to age 3 to help them get off to a good start.
  • Look into school options for your child. Federal law requires public schools to provide services to all children with disabilities between the ages of 3 and 21.

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:

Being diagnosed:

Getting treatment:

Living with Down syndrome:

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Health Tools help you make wise health decisions or take action to improve your health.


Decision Points focus on key medical care decisions that are important to many health problems. Decision Points focus on key medical care decisions that are important to many health problems.
  Pregnancy: Should I have amniocentesis?
  Pregnancy: Should I have CVS (chorionic villus sampling)?
  Pregnancy: Should I have the maternal serum triple or quadruple test?

Cause

Down syndrome is caused by abnormal cell division in early fetal development. Medical experts believe it most often starts 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.

Genes grouped together make up chromosomes. Normally, a child inherits 46 chromosomes, 23 from each parent. The abnormal cell division related to Down syndrome results in extra genetic material, usually an extra chromosome. The type of Down syndrome depends on how many of a person's cells get extra gene pieces. Translocation-type Down syndrome is sometimes passed down through families (inherited).

Symptoms

There are more than 50 characteristic features of Down syndrome. Each child's symptoms vary in number and severity. But many of these characteristics and features also occur in children who do not have Down syndrome.

General characteristics

Most children with Down syndrome have some of the following physical traits:

  • Short stature. A child often grows slowly and, as an adult, is shorter than average.
  • Weak muscles (hypotonia) throughout the body. A child may seem to have less strength than other children of the same age. Weak abdominal muscles also make the stomach stick out.
  • A short, wide neck with excess fat and skin. Usually, this trait is less obvious as the child gets older.
  • Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
  • A single crease across the center of the palms of the hands. This is called a transverse palmar crease or simian line.

Facial features

Down syndrome often results in distinct facial features, such as:

  • Small, low-set ears.
  • Irregularly shaped mouth and tongue. The child's tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve.
  • A nasal bridge that looks pushed in. The nasal bridge is the flat area between the nose and eyes.
  • Tissue buildup on the colored part of the eye (iris). These areas are known as Brushfield's spots and do not affect the child's vision.
  • Irregular and crooked teeth that often come in late and not in the normal sequence.

Other medical conditions

A child may have other medical conditions related to Down syndrome, such as:

Children with Down syndrome are also prone to developing other health problems. For example, respiratory infections, hearing problems, and dental problems are common.

What Happens

Although having Down syndrome presents some challenges, most people with the condition can flourish and live healthy, happy, and productive lives.

Many of the challenges are related to intellectual disability and health problems. People with Down syndrome are prone to certain diseases or conditions, such as hypothyroidism, or other health problems, such as hearing loss or respiratory infections.

You can help your child grow and develop by offering continual love and reassurance. Make sure he or she has routine medical care by a team of caring health professionals. You will also help your child by providing access to a good learning environment and to activities that encourage exercise and interactions with other children. For more information, see the topics:

Physical Activity for Children and Teens.
Helping Children With Disabilities Stay Active.

Although the specific effects vary with each child, it may help you to be familiar with some general patterns of Down syndrome.

Babies with Down syndrome

Babies usually reach growth and early development milestones (such as turning over, sitting, standing, walking, and speaking) later than other children. Special training, such as speech therapy, may be needed.

Children with Down syndrome

Health problems and developmental disabilities can contribute to the development of 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.

Patience, educational and socialization opportunities, and appropriate physical activities can help prevent or manage problem behavior. Counseling and medicines may be needed if a child develops mental health problems such as anxiety or depression.

Teens with Down syndrome

Puberty starts at about the same ages for teens with Down syndrome as for other preteens and young teenagers. It is a good idea to learn about the possible social difficulties and vulnerabilities your child with Down syndrome may face. For example, teens with Down syndrome are vulnerable to abuse, injury, and other types of harm. They may also have more than the usual difficulties with handling strong emotions and feelings typical of their age. Sometimes these struggles can lead to mental health problems, especially depression.

Teens usually graduate from high school, unless their disabilities are severe. Vocational training helps many young adults learn how to work in many settings, such as stores, restaurants, and hotels.

Adults with Down syndrome

Most adults with Down syndrome function well in mainstream society. They often have regular jobs, have friends and romantic relationships, and participate in community activities.

Men with Down syndrome most often are sterile and cannot father children. Many women with Down syndrome can have children, but they usually have early menopause.

What Increases Your Risk

Risk factors associated with Down syndrome vary according to its classification. Factors that increase the risk that a baby will have trisomy 21 type Down syndrome, the most common type, include:

  • Having an older mother. The risk of having a baby with a genetic problem increases as a woman gets older. Many doctors use 35 and older as the age at which the chance of having a child with this type of Down syndrome increases. This risk increases continually with advancing age.
  • Having a previous pregnancy in which the fetus had Down syndrome. Women who have had a pregnancy with trisomy 21 type Down syndrome have a 1-in-100 chance of having another child with the condition.2

Translocation-type Down syndrome is the only type that is sometimes directly inherited. But the majority of translocation-type Down syndrome cases are sporadic (random), with no known cause. Translocation accounts for about 4% of all cases of Down syndrome.3

You may be a carrier of the translocation chromosome if you have:

  • A family history of Down syndrome. Translocation-type Down syndrome may have been passed on to you if other members of your family have the condition.
  • Had other children with this type of Down syndrome.

Mosaicism is a type of Down syndrome that produces extra genetic material in some of the baby's cells while the other cells develop normally. Mosaicism affects about 3 out of 100 people who have Down syndrome.4 The risk factors for mosaicism are similar to those for trisomy 21.

Questions still need to be answered about the specific risk factors for Down syndrome. So far, research has not found any environmental influences that contribute to developing the condition. Medical researchers do not know why chromosomes sometimes divide abnormally and make the extra genetic material that results in Down syndrome.

When To Call a Doctor

Call a doctor immediately if:

  • Your baby or very young child with Down syndrome shows signs of:
    • Intestinal blockage, such as severe belly pain, vomiting, and possibly swelling of the stomach.
    • Heart problems, such as bluish discoloration of the lips and fingers, difficulty breathing, or a sudden change in eating or activity level.
  • A person of any age with Down syndrome shows symptoms of dislocated neck bones (atlantoaxial dislocation). This condition often occurs after an injury. Symptoms may include:
    • Neck pain.
    • Limited neck movement.
    • Weakness in the arms and legs.
    • Difficulty walking.
    • A change in bowel or bladder control.

Children and adults with Down syndrome may not be able to tell you or the doctor if they don't feel well or are in pain. Instead, their behavior may change. Or they may stop doing things that they used to do. These may be signs of a medical problem. Talk to the doctor if you notice that the person with Down syndrome behaves in a new way. Also be alert for signs of depression, anxiety, or other mental or behavioral health problems.

Watchful Waiting

Watchful waiting is a wait-and-see approach. During routine screening exams, your doctor watches your child for common health problems or diseases that sometimes develop with Down syndrome. These office visits also are a time to decide if your child's treatment plan needs adjusting.

Who To See

The following health professionals can diagnose and/or treat a person with Down syndrome:

Other specialists will be needed, such as a:

And other specialists may be needed if complications arise.

Speak with a genetic counselor if you have a child with Down syndrome and you are thinking about having another child.

To prepare for your appointment, see the topic Making the Most of Your Appointment.

Exams and Tests

Testing before becoming pregnant

You may want to consider genetic testing for Down syndrome if you are planning to become pregnant and you have a family history of the condition. Genetic testing can confirm whether you or your partner carry the translocation chromosome, which increases your risk for having a child with the translocation type of Down syndrome. But this kind of testing does not detect whether your child is more likely to have the trisomy 21 type, which accounts for most Down syndrome cases.

Genetic counseling can help you understand why genetic testing is done, what the results mean, and how the results may affect you and your family.

Screening during pregnancy

Screening does not diagnose Down syndrome but rather provides information about the likelihood that your fetus will have the condition. Screening tests include:

  • Fetal ultrasound and blood tests in the first trimester (combined screening). One advantage of combined screening is that it can be done earlier in your pregnancy than some other tests. An ultrasound image can show a greater-than-normal amount of fluid at the back of a fetus's neck. The skin fold thickness measurement estimates the distance between the surface of the skin and the neck bones (nuchal fold). The skin fold test may not be widely available, because only a specially trained provider can do it. A blood test checks the mother's levels of human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A).
  • Integrated screening . This screening involves both first and second trimester tests to predict the risk of having a child with Down syndrome. This test may not be available everywhere. It is one of the most accurate tests.5 The results are reported only after both sets of tests are finished. This can be cause for concern for women who would like to know test results early on.
  • Maternal serum triple or quadruple screen test. These are second trimester tests. The triple test (triple screen) checks the amounts of the following 3 substances in your blood:

The test is called a quadruple screen (quad screen) when a test for inhibin A is added. Inhibin A is a protein that is produced by the fetus and the placenta.

Click here to view a Decision Point. Should I have the maternal serum triple or quadruple test?

Screening tests for Down syndrome and other conditions require your consent. Some women find that knowing their chances of having a child with Down syndrome helps them to prepare for the possibility. Others are more comfortable going through their pregnancy without having this information.

The type of screening tests given, alone or in combination, depends on your goals and preferences. For example, when a mother is most concerned with screening accuracy and does not want to have amniocentesis, her doctor may recommend a combination of fetal ultrasound and blood test during the first trimester plus a triple or quad screen during the second trimester.

Diagnosis during pregnancy

A chromosomal analysis, called a karyotype test, can diagnose Down syndrome during pregnancy. A sample is taken directly from the fetus or placenta using one of the following techniques:

  • Amniocentesis. This usually is done at 15 to 18 weeks or later in your pregnancy. The liquid (amniotic fluid) that surrounds the fetus contains cells that have been shed by your developing baby. These cells can be checked for the number and size of chromosomes to see if there are any problems that put the baby at risk for certain conditions, such as Down syndrome. The test is done by inserting a needle through your abdomen into your uterus. A small amount of the amniotic fluid is collected and examined. Results of amniocentesis usually take about 2 weeks.
  • Chorionic villus sampling (CVS). This test is done earlier than amniocentesis, ideally between weeks 10 and 12 of your pregnancy. Chorionic villi are tiny finger-shaped growths found in the placenta. The genetic material in chorionic villus cells is identical to the genetic material in fetal cells. A biopsy of these cells can provide doctors with genetic information about your fetus. Doctors can then let you know whether your fetus is likely to have certain conditions, such as Down syndrome, that can develop from chromosomes that are not normal. The chorionic villus sample is usually collected through the mother's vagina. The doctor inserts a speculum to gently spread apart the vaginal walls. Then a tube (catheter) is guided through the cervix to the placenta using ultrasound. When the tube is correctly placed, a sample of chorionic villus cells is collected. Less often, the sample of chorionic villus cells is collected by inserting a needle through the abdomen into the woman's uterus. Results of CVS are usually available within several days.

Risks, such as miscarriage, are associated with amniocentesis and CVS. It is always your choice whether to have your fetus tested for Down syndrome. A diagnosis of Down syndrome made early in fetal development allows you the option of terminating your pregnancy. If you choose to continue the pregnancy, early awareness can help you prepare emotionally and plan for the special needs of your child. A genetic counselor can help you during this process.

Click here to view a Decision Point. Should I have chorionic villus sampling?
Click here to view a Decision Point. Should I have an amniocentesis?

If a fetus is diagnosed with Down syndrome, a doctor may recommend fetal echocardiography to screen for heart defects and fetal ultrasound to help detect digestive system problems. Any suspected defects will be further investigated after birth.

Diagnosis after your baby is born

If Down syndrome was not diagnosed before birth, a baby's physical features at birth often give doctors a clear sense of whether the child has Down syndrome. But traits can be subtle in a newborn, depending on the type of Down syndrome that he or she has. In general, doctors can often make a diagnosis by doing a physical exam.

A newborn will also have a blood sample taken for chromosomal analysis to confirm the diagnosis. It may take 2 to 3 weeks to get the complete results of this test.

Exams and tests at birth and throughout life

Screening guidelines according to age were developed by the American Academy of Pediatrics and the Down Syndrome Medical Interest Group for people who have Down syndrome. Doctors screen for common problems seen in people with Down syndrome, such as heart, hearing, or vision problems.

What to think about

One of the greatest difficulties parents face is finding a way to tell family members and friends about their child's condition. If you do not 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 are not 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.

Waiting for a formal diagnosis can be stressful. It can take 2 to 3 weeks to get the test results. Try to focus on caring and bonding with your newborn and getting the help you 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 with Down syndrome. Support groups may be especially helpful in learning not only about the challenges of having a child with Down syndrome but also the joys and positive experiences other parents have had. You may also find it helpful to meet and talk with families who have a child with Down syndrome. Talking with religious or spiritual leaders, genetic counselors, or loved ones may help you deal with difficult emotions.

Early detection

Testing for Down syndrome during pregnancy (prenatal testing), which requires your consent, may be recommended if you:

  • Want to know for sure if your fetus has Down syndrome.
  • Have a family history of Down syndrome or your partner has a family history of Down syndrome.
  • Know that you or your partner carry the translocation type of Down syndrome.

Prenatal testing for a formal diagnosis of Down syndrome requires karyotyping. The sample used for this testing is taken during amniocentesis or chorionic villus sampling.

Genetic counseling offers a lot of information and help for couples who are planning to become pregnant. For example, couples who have a child with Down syndrome can use genetic counseling to help determine their risk for having another child with the condition.

Treatment Overview

A team of health professionals will direct the treatment for Down syndrome based on your child's unique symptoms and physical problems. By working closely with these health professionals and other care providers, you can help your child become as independent as possible and lead a healthy, meaningful life.

Initial treatment

It is normal 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.

A confirmed diagnosis of Down syndrome requires a karyotype test. This test usually is done on a sample of your baby's blood if it is done after birth. It may take 2 to 3 weeks to get the complete results of this test. This waiting period can be extremely difficult, especially if earlier test results were uncertain and your baby has only subtle characteristics of Down syndrome.

Your newborn with Down syndrome will have routine checkups and various tests during the first month. These tests are used to monitor his or her condition and to help health professionals look for early signs of common diseases associated with Down syndrome and other health problems. These checkups also are a good time to begin discussing issues of concern about your newborn.

Ongoing treatment

Three important parts of ongoing treatment for Down syndrome are making sure that your child has regular medical checkups, helping to manage his or her adjustments to social and physical changes, and promoting independence.

Physical exams allow your doctor to watch your child for early signs of common diseases associated with Down syndrome and other health problems. Doctors look for specific problems at various ages, such as cataracts and other eye conditions during a baby's first year. See checkups and testing during:

Talk to your doctor during your child's checkups or any time you have concerns. Many parents of children with Down syndrome express similar concerns according to their child's age.

  • Newborn concerns often include getting emotional support and learning where to get more information about Down syndrome. For information about online resources and organizations, see the Other Places to Get Help section of this topic.
  • Infant concerns often focus on preventing colds and infections. Also, you might start exploring the types of therapies that might be tried based on how your child grows and develops.
  • Early childhood concerns are often related to your child's rate of growth and development, which is typically slower than other children of the same age. You will likely want to address behavior, social skills, diet and exercise, and how to prevent common illnesses.
  • Middle and late childhood concerns increasingly focus on gaining independence, social skills, and education.
  • Adolescent and young adult concerns often relate to the transition into adulthood and planning for the future, such as where your child will live. Also, issues related to sexuality and relationships may develop.

Loose ligaments in children with Down syndrome make it easy for them to dislocate bones, especially in the neck (atlantoaxial dislocation). Doctors may want to X-ray your child's neck bones, especially if he or she wants to take part in sports. Usually X-rays are needed only once. Certain sports, such as football, wrestling, or diving, may need to be avoided.

Treatment to teach independence and self-sufficiency is influenced by your child's mental and physical abilities. 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 proper encouragement and guidance, your child can learn the following important skills:

  • Walking and other motor development milestones. You can help your baby and young child strengthen muscles through directed play. As your child gets older, you can work with a physical therapist and your doctor to design an exercise program to help your child maintain and increase muscle strength and physical skills.
  • Self-feeding. You can help your child learn to eat independently by sitting down together at meals. Use gradual steps to teach your child how to eat. Start with allowing your child to eat with his or her fingers and offering thick liquids to drink.
  • Dressing. Teach your child how to dress himself or herself by taking extra time to explain and practice.
  • Communicating. Simple measures, such as looking at your baby while speaking or showing and naming objects, can help your baby learn to talk.
  • Grooming and hygiene. Help your child learn the importance of being clean and looking his or her best. Establish a daily routine for bathing and getting ready. As your child gets older, this will become increasingly important. Gradually add new tasks to the routine, such as putting on deodorant.

Often different types of therapy, such as speech therapy, can help children with Down syndrome learn necessary skills. These therapies are used throughout life, even during adulthood. The specifics change as your child grows and develops.

When helping your child with Down syndrome achieve independence, it is also important to be aware of his or her vulnerabilities and potential social problems. Although your child can overcome many challenges, he or she will always need support and guidance.

Treatment if the condition gets worse

Children with Down syndrome often are born with or have an increased risk for developing:

Treatment is specific to the type of disease or health problem that develops. For example, medicines may be used to treat symptoms related to heart disease. Surgery sometimes may be needed to correct problems such as cataracts or bowel obstruction.

Children with Down syndrome also are at risk for:

  • Weight problems. A registered dietitian can give guidance for meal planning and offer helpful diet strategies for your child. Regular exercise is also important. Go for walks with your child and help him or her learn the importance of being physically active.
  • Behavior problems. Although children with Down syndrome are often perceived as being very mild-tempered, they are at risk for having behavior problems, such as oppositional defiant disorder and autism. Your doctor or a counselor can help you design strategies to improve problem behavior and teach appropriate socialization skills.
  • Depression . Watch for signs that your child may be depressed or may be having mood problems, especially during the teen and adult years. Depression often is triggered by a significant change or loss, such as death of a family member or change in a caregiver. Counseling from a licensed therapist can help your child overcome and manage these mental health issues. Sometimes medicines are also used.

What to think about

  • Your child may be able to tolerate a high degree of pain before telling about it. And he or she may not be able to describe pain very well. The first sign of an illness may be a change in your child's behavior.
  • There are several controversial treatments for Down syndrome that circulate through various media and word of mouth. Talk with your doctor about these treatments before using them.

End-of-life issues

More than 50 out of 100 people who have Down syndrome live into their 50s. And about 15 out of 100 people who have Down syndrome live longer than 68 years.4 Better treatment and well-organized advocacy groups have helped people with Down syndrome live long and fulfilling lives.

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.

You will face some hard decisions as your loved one nears the end of life. Those decisions will include what kind of care to give, where to get the care, and who will make decisions about the care. If you make arrangements in advance, you can have more time to spend quality time with your family.

If you are caring for a dying loved one, it is important to take good care of yourself also. Get support to help you care for your loved one and to help you prepare for your loss. For more information, see the topics Care at the End of Life and Grief and Grieving.

Prevention

Down syndrome cannot be prevented. But if you are pregnant and you know that your child will have Down syndrome, you can prepare for his or her special needs by:

  • Finding a doctor who has experience caring for children with Down syndrome.
  • Learning about the condition. Visit your local library or bookstore to learn more about Down syndrome. Also, see the Other Places to Get Help section of this topic.
  • 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.

Home Treatment

As a parent of a child with Down syndrome, you play an important role in helping your child reach his or her full potential. 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.

Having a child with Down syndrome is full of challenges and accomplishments. Common frustrations and frequent highs and lows can all lead to exhaustion. 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 Caregiver Tips.

Developmental milestones and achieving basic skills

Be patient and encouraging with your young child as he or she learns to walk and master other developmental skills, such as turning over, sitting, standing, and talking. Your child will likely take more time than other children to reach these milestones. But his or her achievements are just as significant and exciting to watch.

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 available in your area.

Basic skills, such as learning to feed oneself and dress independently, often take longer for children with Down syndrome to accomplish. Set aside time each day to practice, and keep a positive attitude when you are helping your child learn these tasks.

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.

School issues

Most children with Down syndrome can be included in a regular classroom. Your child may need an adapted curriculum and may sometimes attend special classes.

Be involved with your child's education. Children with disabilities, such as those related to Down syndrome, have a legal right to education. These laws also protect your rights as a parent to be fully informed about or to challenge educational decisions concerning your child.

Adolescent, teen, and adult concerns

As your child enters puberty, proper grooming and hygiene becomes very important. Peer acceptance and self-esteem are affected by how well your preteen or teen addresses these issues.

Socially, teens and adults with Down syndrome have the same needs as everyone else. Most will want to date, socialize, and develop intimate relationships. You can help your child develop healthy relationships by teaching appropriate social skills and behavior. Encourage your child to take part in school and community activities. Providing opportunities to form healthy friendships is critical for your child's happiness and sense of belonging.

Also be aware of the social difficulties and vulnerabilities your child faces. Start early to prepare your child for healthy adult relationships and the possibility of an intimate relationship.

  • Teach respect for his or her body and the bodies of others.
  • Talk openly about your morals and beliefs.
  • Provide sex education that is honest and presented in a way that your child can understand. Talk about the reproductive and intimate aspects of sex.
  • Discuss birth control methods and safe-sex practices to prevent sexually transmitted diseases.

Start planning for your child's future living arrangements during his or her teen years. Many people with 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.

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 hobbies such as drawing.

Recognize that your teen or adult who has Down syndrome is at increased risk for depression, especially after a loss, such as death of a family member or a major upset in the normal routine. Often a change in behavior is the first sign of a problem. Seek counseling for your teen or adult if you notice signs of depression.

Medications

Medicines are not used to treat Down syndrome. But medicines are used to treat other diseases associated with Down syndrome and other health problems that may develop. For example, antibiotics for ear infections and thyroid hormones for an underactive thyroid gland (hypothyroidism) may be used.

Surgery

There are no surgical treatments for Down syndrome. But surgery may be necessary to correct a problem caused by diseases associated with this condition, such as heart defects, intestinal blockages, or spinal problems. Using plastic surgery to normalize facial features associated with Down syndrome is controversial, includes some risks, and is generally unsuccessful.

Other Treatment

A child who has Down syndrome may need additional therapy, counseling, or training. Parents and other caregivers may also need assistance in planning a secure future for their family member who has Down syndrome.

Different types of therapy, such as speech therapy, are used frequently to help people with Down syndrome learn essential skills and achieve as much independence as possible.

Families of children with Down syndrome may need other types of resources, such as:

  • Financial assistance. Children with Down syndrome have special needs that may create additional expenses for the family. In the United States, some state and federal government services help cover the costs of certain programs. The amount your child receives depends on different factors such as your income and your child's level of disability. To find out about financial assistance in your state, call your state's Department of Developmental Disabilities.
  • Estate planning. Become familiar with tax issues and estate planning to ensure that your child will have proper care and necessary resources available should you die. If you have other children who have developed normally, include them in planning for the future of your child with Down syndrome.
  • Family counseling. This therapy involves regular sessions with a qualified counselor who has experience working with families who have children with Down syndrome.

There are several controversial treatments (including supplements, surgery, and medicine) for Down syndrome that either have not been proved helpful or have questionable benefit. Talk with your doctor before using these treatments.

Other Places To Get Help

Organizations

Centers for Disease Control and Prevention (CDC): National Center on Birth Defects and Developmental Disabilities (NCBDDD)
1600 Clifton Road
Atlanta, GA  30333
Phone: 1-800-232-4636 (1-800-CDC-INFO)
TDD: 1-888-232-6348
E-mail: cdcinfo@cdc.gov
Web Address: www.cdc.gov/ncbddd
 

NCBDDD aims to find the cause of and prevent birth defects and developmental disabilities. This agency works to help people of all ages with disabilities live to the fullest. The Web site has information on many topics, including genetics, autism, ADHD, fetal alcohol spectrum disorders, diabetes and pregnancy, blood disorders, and hearing loss.


March of Dimes
1275 Mamaroneck Avenue
White Plains, NY  10605
Phone: (914) 997-4488
Web Address: www.marchofdimes.com
 

The March of Dimes tries to improve the health of babies by preventing birth defects, premature birth, and early death. March of Dimes supports research, community services, education, and advocacy to save babies' lives. The organization's Web site has information on premature birth, birth defects, birth defects testing, pregnancy, and prenatal care. You can sign up to get a free newsletter and also explore Understanding Your Newborn: An Interactive Program for New Parents.


National Dissemination Center for Children with Disabilities
P.O. Box 1492
Washington, DC  20013
Phone: 1-800-695-0285
Fax: (202) 884-8441
TDD: 1-800-695-0285
E-mail: nichcy@aed.org
Web Address: www.nichcy.org
 

The National Dissemination Center for Children with Disabilities (NICHCY) is the national information and referral center that provides information on disabilities and disability-related issues for families, educators, and other professionals. The focus is on children and youth, birth to age 22.


National Down Syndrome Congress (NDSC)
1370 Center Drive
Suite 102
Atlanta, GA  30338
Phone: 1-800-232-NDSC (1-800-232-6372)
(770) 604-9500
E-mail: info@ndsccenter.org
Web Address: www.ndsccenter.org
 

The National Down Syndrome Congress (NDSC) is a national advocacy organization and a major source of information, support, and empowerment for people with Down syndrome and their families. NDSC's goal is to create a climate in which all people will recognize and embrace the value and dignity of those with Down syndrome. NDSC can provide information on the nearest Down syndrome clinic in your area.


National Down Syndrome Society
666 Broadway, 8th floor
New York, NY  10012
Phone: 1-800-221-4602
E-mail: info@ndss.org
Web Address: www.ndss.org
 

The National Down Syndrome Society (NDSS) wants to help people with Down syndrome enhance their quality of life, realize their life aspirations, and become valued members of the community. NDSS advocates for research, policies, and education to help people with Down Syndrome. The Web site has information about health care, school and community life, the transition to adulthood, behavior management, family issues, friendships, and more.


References

Citations

  1. Elias ER, et al. (2009). Chromosomal disorders: Trisomies section of Genetics and dysmorphology. In WW Hay et al., eds., Current Diagnosis and Treatment: Pediatrics, 19th ed., pp. 999–1002. New York: McGraw-Hill.
  2. Cunningham FG, et al. (2005). Prenatal diagnosis and fetal therapy. In Williams Obstetrics, 22nd ed., pp. 313–339. New York: McGraw-Hill.
  3. Descartes M, Carroll AJ (2007). Cytogenetics. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 18th ed., pp. 502–517. Philadelphia: Saunders Elsevier.
  4. Saitta SC, Zackai EH (2005). Specific chromosome disorders in newborns. In HW Taeusch et al., eds., Avery's Diseases of the Newborn, 8th ed., pp. 204–215. Philadelphia: Elsevier Saunders.
  5. American College of Obstetricians and Gynecologists (2007, reaffirmed 2008). Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin No. 77. Obstetrics and Gynecology, 109(1): 217–227.

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, 110(6): 1304–1306.
  • Committee on Genetics, American Academy of Pediatrics (2001, reaffirmed 2007). Health supervision for children with Down syndrome. Pediatrics, 107(2): 442–449.
  • Driscoll DD, Gross SJ (2008). First trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine, 10(1): 73–75.

Credits

Author Debby Golonka, MPH
Editor Susan Van Houten, RN, BSN, MBA
Associate Editor Pat Truman, MATC
Primary Medical Reviewer Michael J. Sexton, MD - Pediatrics
Specialist Medical Reviewer Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Specialist Medical Reviewer David Smith, MD - Family Medicine
Last Updated August 4, 2009

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