Down Syndrome

	Topic Overview
	Health Tools
	Cause
	Symptoms
	What Happens
	What Increases Your Risk
	When To Call a Doctor
	Exams and Tests
	Treatment Overview
	Prevention
	Home Treatment
	Medications
	Surgery
	Other Treatment
	Other Places To Get Help
	Related Information
	References
	Credits

What is Down syndrome?

Down syndrome is a lifelong condition in which a person is born with distinct physical features, such as a flat face and short neck, and some degree of cognitive disability (mental retardation). Although Down syndrome is permanent, most people who have it are able to live healthy, productive lives. Given the proper care and help they need, children with Down syndrome can flourish and grow into healthy and happy adults.

What causes Down syndrome?

Down syndrome is caused by abnormal cell division very early in fetal development. This abnormal division produces an extra or irregular chromosome in some or all of the body's cells. Chromosomes carry genetic material (DNA), or genes, to every cell in the body. The extra or irregular chromosome causes the body and brain to develop differently than in people who have normal chromosomes.

What are the symptoms?

Many children with Down syndrome have noticeable features, such as a flat face with small ears and mouth. Most young children have weak muscles (hypotonia), which generally improves by late childhood.

Below-average intelligence and physical problems often result in developmental disabilities. A child with Down syndrome may also be born with heart, intestinal, or ear and respiratory defects. These health conditions often lead to other problems, such as respiratory infections or difficulty hearing.

How is Down syndrome diagnosed?

During your pregnancy, you may choose to have tests to screen for Down syndrome and other abnormalities in your fetus. 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, which uses reflected sound waves to provide an image of your fetus and placenta. During the ultrasound the technician may measure the thickness of your fetus's neck (nuchal fold). Swelling in this area may indicate an increased risk of Down syndrome.
• Maternal serum triple or quadruple screen test. This test measures substances in your blood that can give clues to your fetus's health.

To confirm a diagnosis during your pregnancy, you can have a chromosome analysis called a karyotype. This test can be done on tissue obtained through chorionic villus sampling or on amniotic fluid obtained through amniocentesis. Getting the sample for a karyotype slightly increases the chance for miscarriage. For this reason, karyotype testing is usually only recommended if screening tests (ultrasound or triple/quadruple screening) are positive for Down syndrome and/or the fetus is at increased risk for Down syndrome, such as if you are age 35 or older.

Karyotype testing can also be done in the first few days after birth from a sample of the baby's blood. It may take 2 to 3 weeks to get the complete test results. However, a doctor often has a good sense of whether or not the diagnosis will be positive based on the baby's appearance, the results of a physical exam, family history, and results of earlier screening tests (if done during pregnancy).

How is it treated?

You and your child's doctor will make a specific treatment plan based on your child's needs. This plan is adjusted as your child grows and develops. Early treatment focuses on identifying and treating health problems. Speech and language therapy, physical therapy, and nutritional counseling are examples of early and continuing treatment.

As your child matures, working with an occupational therapist can help him or her to develop job and independent living skills. A physical therapist may add exercises, and a counselor may offer ways to work on managing emotions.

Proper medical care, emotional support, and social opportunities will all help your child to reach his or her full potential. Many people with Down syndrome live into their 50s and some into their 60s or older.¹

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.
	Should I have an amniocentesis?
	Should I have the maternal serum triple or quadruple test (triple or quad screen)?

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 produces extra genetic material, usually an extra chromosome. Down syndrome is classified according to the specific way that extra genetic material is produced.

There are more than 50 characteristic features of Down syndrome. Each child's symptoms vary in number and severity. However, 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. Normally, children's stomach muscles gradually strengthen around age 2.
• 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:

• Cognitive disability (mental retardation). Most children with Down syndrome have mild to moderate cognitive disability.
• Heart defects. About 50% of children with Down syndrome are born with a heart defect.² Most defects are diagnosed at birth or shortly thereafter.
• Diseases such as hypothyroidism, celiac disease, and eye conditions.

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

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 cognitive disability (mental retardation) 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 manage these and other difficulties by offering continual love and reassurance. Make sure he or she has regular medical care by a team of caring health professionals. You will also help your child by providing access to a good learning environment as well as to activities that encourage exercise and interactions with other children.

The effects of Down syndrome usually change over time. 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 to prevent or manage problem behavior. Counseling and medications may be needed if a child develops mental health problems such as anxiety or depression.

Teens with Down syndrome

Puberty begins at about the same ages for adolescents 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 a variety of settings, such as stores, restaurants, or 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.

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 (95% of all cases), include:

• Having an older mother. Women who are older than 35 have an increased risk for having a child with trisomy 21 type Down syndrome. This risk increases continually with advancing age.
• Having an older father. Medical researchers are looking at the link between a man's age and the risk of having a child with Down syndrome. Early studies suggest that if a father is older than 40 and a mother is older than 35, they have an increased risk of having a child with Down syndrome.³
• Having a sibling with Down syndrome. Women who have had a child with trisomy 21 type Down syndrome have a 1-in-100 chance of having another child with the condition.

Mosaicism is a type of Down syndrome that produces extra genetic material in some of the body's cells, while the other cells develop normally. Mosaicism affects only 1% to 2% of people who have Down syndrome.² The risk factors for mosaicism are similar to those for trisomy 21.

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

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

• A family history of Down syndrome. Translocation-type Down syndrome genes may have been passed on to you if other members of your family have the condition.
• Had other children with Down syndrome. Although translocation-type Down syndrome is most often a sporadic genetic mutation, if you have had a child with this type, you may be a carrier of the gene.

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 cells sometimes divide abnormally and produce the extra genetic material that results in Down syndrome.

Call a health professional immediately if:

• Your baby or very young child with Down syndrome shows signs of:
  • Intestinal blockage, such as severe abdominal 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.

Talk to your health professional soon if your child or adult with Down syndrome develops behavioral problems. Often these problems, especially when they develop in adults, are a reaction to medical or physical problems. Also be alert for signs of depression, anxiety, or other mental health problems.

Watchful Waiting

Watchful waiting is a wait-and-see approach. During routine screening exams, your doctor monitors your child for common health conditions or diseases that sometimes develop with Down syndrome. These office visits also offer an opportunity to determine whether your child's treatment plan needs adjusting.

Who To See

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

• Pediatrician, including those who specialize in development and behavior
• Family medicine physician
• Internist
• Genetic counselor
• Nurse practitioner
• Physician assistant

Other specialists may be needed if complications develop.

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

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. However, this kind of testing does not detect whether your child is more likely to have the trisomy 21 type, which accounts for about 95% of all 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. This test can detect signs of Down syndrome in early pregnancy. A fetal ultrasound image can show greater-than-normal swelling at the back of a fetus's neck. This swelling is detected by measuring the skin fold thickness to estimate the distance between the surface of the skin and the neck bones.
• Maternal serum triple or quadruple screen test. The triple test (triple screen) measures the amounts of the following 3 substances in your blood:
  • Alpha-fetoprotein (AFP)
  • Human chorionic gonadotropin (hCG)
  • Estriol (uE3)

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. The quadruple test can detect most Down syndrome cases, and it may be less likely than the triple screen to deliver false-positive results.⁵

Should I have the maternal serum triple test or quadruple test (triple or quad screen)?

Another screening option that may be available is a combination of a fetal ultrasound and a blood test to measure levels of human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). This combination screening has shown to be as accurate as the quadruple screen test for detecting Down syndrome.⁶ One advantage of this type of screening is that it can be done earlier in your pregnancy than other tests.

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.

Also, the type of screening tests given, alone or in combination, depends on the mother's 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.⁷

Diagnosis during pregnancy

A chromosomal analysis, called a karyotype test, can diagnose Down syndrome during pregnancy. This 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 your fetus contains cells that have been shed by your developing baby. These cells can be tested for more than 100 types of defects that are associated with inherited (genetic) diseases, such as Down syndrome. The test is done by inserting a needle through your abdomen into your uterus. Approximately 2 Tbsp (30 mL) of the amniotic fluid is collected and examined. Amniocentesis has a 1 in 370 risk of causing miscarriage.⁸ It is 99.8% accurate in detecting Down syndrome. 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-like projections found in the placenta. The genetic material in chorionic villus cells is identical to 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 spreads apart the vaginal walls, and a catheter is guided through the cervix to the placenta using ultrasound. When the catheter is correctly placed, a sample of chorionic villus cells are collected. Less often, the sample of chorionic villus cells are collected by inserting a needle through the abdomen into the woman's uterus. CVS has a 1 in 360 risk of causing a miscarriage.⁸ Results of CVS are usually available within several days.

Should I have an amniocentesis?

Because there are risks associated with amniocentesis and CVS, they are not done routinely. However, the tests usually are offered to pregnant women who are 35 or older because of their increased risk for having a fetus with abnormal chromosomes. Amniocentesis and CVS may also be recommended for women who have had an abnormal triple or quad screen test, those who have a child with Down syndrome, or those with a family history of the condition.

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 termination is not an option for you, 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.

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 with a karyotype test (using amniocentesis or chorionic villus sampling), a baby's physical features at birth often give doctors a clear sense of whether the child has Down syndrome. However, traits can be subtle in a newborn, depending on the type of Down syndrome that he or she has. In general, a preliminary diagnosis can often be made from observation of physical features and:

• Results of earlier triple or quad screening tests (if any are available).
• Details about the parents' medical histories.
• Physical examination of the baby for other medical problems.

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.

Testing at birth and throughout life

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

• Testing for newborns (birth to 1 month of age)
• Testing for infants (age 1 month to 1 year)
• Testing during early childhood (age 1 to 5 years)
• Testing during middle and late childhood (age 5 to 13 years)
• Testing during adolescence and young adulthood (age 13 to 21 years)
• Testing during adulthood

Early Detection

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

• Are 35 or older.
• 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 gene for the translocation type of Down syndrome.

Screening for Down syndrome is done with the maternal triple screen test. 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 variety 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.

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. Even if you learned about your baby's condition while you were pregnant, the first few weeks after birth often are very difficult as you learn to cope with the diagnosis.

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 regular 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 conditions. These checkups also are a good time to begin discussing issues of concern about your newborn.

Ongoing treatment

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

Physical examinations allow your health professional to monitor your child for early signs of common diseases associated with Down syndrome and other health conditions. Health professionals 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:

• Newborn period (birth to 1 month of age).
• Infancy (age 1 month to 1 year).
• Early childhood (age 1 to 5 years).
• Middle and late childhood (age 5 to 13 years).
• Adolescence and young adulthood (age 13 to 21 years).
• Adulthood.

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.
• 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, that 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 participate in sports. Generally, 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 intelligence level 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, starting with allowing the 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:

• Diseases, such as heart disease.
• Health conditions, such as frequent respiratory infections.

Treatment is specific to the type of disease or health condition that develops. For example, medications 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 provide guidance with 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 recognize 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 developing 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 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 medications are also used.

What to think about

• Your child may be able to tolerate a high degree of pain before expressing it and may not be able to describe it 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

The typical life expectancy of people with Down syndrome has nearly doubled in recent decades, from 25 years in 1983 to 49 years in 1997.⁹ More than half of people with Down syndrome live into their 50s. About 13% of people with Down syndrome live longer than 68 years.¹⁰ In addition, better treatment and well-organized advocacy groups have helped people with Down syndrome to live long and fulfilling lives.

People with Down syndrome have a lower life expectancy than average. However, you can help your child to stay healthy by scheduling regular checkups. This will help to identify, manage, and monitor any diseases and health conditions that people with Down syndrome have an increased chance of developing.

Down syndrome cannot be prevented. However, 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.
• 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.

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 right 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.

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 the 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 health professional about programs available in your area.

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

You also can encourage learning and socialization opportunities, such as by enrolling 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. However, recognize 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 challenge educational decisions concerning your child.

Adolescent, teen, and adult concerns

As your child enters puberty, proper grooming and hygiene becoming very important. Peer acceptance and self-esteem are all affected by how well your adolescent 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. Also, encourage your child to participate in school and community activities. Providing opportunities to form healthy friendships is critical for your child's happiness and sense of belonging.

However, you should also be aware of the social difficulties and vulnerabilities your child faces. Prepare your teen for healthy adult relationships and the possibility of an intimate relationship early in life.

• 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. However, 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 that his or her life is meaningful. Adult day care may be an option, or the Special Olympics and other activities that emphasize exercise. Encourage an adult's interest, such as in art or hobbies such as drawing.

Recognize that your teen or adult with Down syndrome is at increased risk for developing 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 are not used to treat Down syndrome. However, medications are used to treat other diseases associated with Down syndrome and other health conditions that may develop, such as antibiotics for ear infections and thyroid hormones for an underactive thyroid gland (hypothyroidism).

There are no surgical treatments for Down syndrome. However, surgery may be necessary to correct a defect caused by diseases associated with this condition, such as surgery for 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.

A child with 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 with 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 medication) for Down syndrome that either have not been proven helpful or have questionable benefit. Talk with your health professional before using these treatments.

Online Resource

Organizations

• Celiac Disease
• Congenital Heart Defects
• Growth and Development, Ages 1 to 12 Months
• Growth and Development, Ages 12 to 24 Months
• Growth and Development, Ages 2 to 5 Years
• Growth and Development, Ages 6 to 10 Years
• Growth and Development, Newborn
• Speech and Language Development

Citations

1. Roizen NJ (2001). Down syndrome: Progress in research. Mental Retardation and Developmental Disabilities Research Reviews, 7: 38–44.

2. Committee on Genetics, American Academy of Pediatrics (2001). Health supervision for children with Down syndrome. Pediatrics, 107(2): 442–449.

3. Fisch H, et al. (2003). The influence of paternal age on Down syndrome. Journal of Urology, 169: 2275–2278.

4. Hall JG (2004). Chromosomal clinical abnormalities. In RE Behrman et al., eds., Nelson Textbook of Pediatrics, 17th ed., chap. 70, pp. 382–390. Philadelphia: Saunders.

5. Benn PA, et al. (2003). Incorporation of inhibin-A in second trimester screening for Down syndrome. Obstetrics and Gynecology, 101(3): 451–454.

6. American College of Obstetricians and Gynecologists (2004). ACOG issues position on first-trimester screening methods. Available online: http://www.acog.org/from_home/publications/press_releases/nr06-30-04.cfm.

7. Malone FD, D'Alton ME (2003). First-trimester sonographic screening for Down syndrome. Obstetrics and Gynecology, 102(5, Part 1): 1066–1079.

8. Caughey AB, et al. (2006). Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstetrics and Gynecology, 108(3): 612–616.

9. Yang Q, et al. (2002). Mortality associated with Down's syndrome in the USA from 1983 to 1997: A population-based study. Lancet, 359: 1019–1025.

10. Roizen NJ (2002). Down syndrome. In ML Batshaw, ed., Children with Disabilities, 5th ed., chap. 16, pp. 307–320. Baltimore: Paul H. Brooks Publishing.

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.

• Chapman RS, Hesketh LJ (2000). Behavioral phenotype of individuals with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6: 84–95.

• Hennequin M, et al. (2000). Pain expression and stimulus localisation in individuals with Down's syndrome. Lancet, 356: 1882–1887.

• Howe DT, et al. (2000). Six-year survey of screening for Down's syndrome by maternal age and mid-trimester ultrasound scans. BMJ, 320: 606–610.

• Levanon A, et al. (1999). Sleep characteristics in children with Down syndrome. Journal of Pediatrics, 134: 755–760.

• Smith DS (2001). Health care management of adults with Down syndrome. American Family Physician, 64(6): 1031–1038.

• Smith-Bindman R, et al. (2001). Second-trimester ultrasound to detect fetuses with Down syndrome: A meta-analysis. JAMA, 285(8): 1044–1055.

• Wald NJ, et al. (1999). Integrated screening for Down's syndrome based on tests performed during the first and second trimesters. New England Journal of Medicine, 341: 461–467.

Author:	Amy Fackler, MA	Last Updated August 16, 2005
Medical Review:	Michael J. Sexton, MD - Pediatrics David Smith, MD - Family Medicine
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information. For more information, click here.