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What is Down syndrome?
Down syndrome is a genetic condition. It affects a baby's development. Children who have it may share similar features and health issues. They may learn to talk later than other children and have some intellectual disability. But every person's experience is different. And everyone with Down syndrome has unique strengths and abilities.
What causes it?
Down syndrome is caused by having an extra chromosome. This affects the way a baby's body and brain develop during pregnancy and after birth. Doctors don't know for sure what causes the extra chromosome to happen.
What are the symptoms?
Children with Down syndrome may share similar features, such as almond-shaped eyes that tilt upward. They usually learn to talk later than other children and have some intellectual disability. Some children may also have certain health issues, such as a heart or breathing problem.
How is it diagnosed?
While you are pregnant, an ultrasound and a blood test can show if your baby may be at risk for Down syndrome. Other tests can show if your baby has Down syndrome. These include chorionic villus sampling and amniocentesis. A baby can be diagnosed after birth based on a physical exam.
How is Down syndrome treated?
Your doctor will make a treatment plan that meets your child's needs.
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. 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. If there are social and emotional issues, counseling may help.
Many professionals will help you and your child through life. With treatment and support, you can help your child live a happy, healthy life.
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Down syndrome is caused by having an extra chromosome. Usually a person has 46 chromosomes, 23 from each parent. A person with Down syndrome has 47.
Each chromosome carries a group of genes that tell the body and brain how to develop. Having an extra chromosome changes the way a baby's body and brain develop during pregnancy and after birth.
The extra chromosome that causes Down syndrome forms when cells don't divide like they should. This cell division error might happen in the sperm or egg cell before a baby is conceived. Or it might happen after an egg is fertilized.
Although doctors know that Down syndrome is caused by an extra chromosome, they don't yet know what causes the cell division errors that create it.
What Increases Your Risk
Being older than 35 when pregnant or having a brother, sister, or another baby with Down syndrome increases the chance of having a baby with the condition. People who are planning to get pregnant and have concerns about their risk factors may want to talk to their doctors about genetic counseling.
Children with Down syndrome have a range of symptoms. They may share similar features, such as almond-shaped eyes that tilt upward. And they usually learn to talk later than other children and have some intellectual disability. But every child is different, and each will have unique strengths and abilities.
Some children may also have certain health issues, such as heart, intestine, ear, or breathing problems. These issues often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.
Every person's experience of Down syndrome is different. Many of the challenges people with the condition face are related to intellectual disability and health problems. But different people will have different abilities and symptoms.
Children with Down syndrome may reach milestones later than other children. These include things like sitting, standing, walking, and talking. And as they get older, they may have some behavior problems.
As people with Down syndrome become teens and grow into adults, they may have problems handling strong emotions. Sometimes these struggles can lead to mental health problems, especially depression. But counseling can help to manage mental health.
Occupational therapy can help teens and adults learn important life skills. It can help them prepare to have a job and live more independently. Most people with Down syndrome can live happy, healthy, and productive lives.
When to Call a Doctor
Call 911 or other emergency services immediately if your baby or very young child with Down syndrome shows signs of:
- Bluish color of the lips and fingers.
- Difficulty breathing.
Call a doctor now 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.
- A sudden change in eating habits.
- A sudden change in activity level.
- A person of any age with Down syndrome shows symptoms of dislocated neck bones. This condition often occurs after an injury. Symptoms may include:
- Neck pain.
- Limited neck movement.
- Weakness in the arms and legs.
- Trouble walking.
- A change in bowel or bladder control.
Call a doctor if a person with Down syndrome:
Exams and Tests
Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. You may decide to have:
- Screening tests.
These include an ultrasound and a blood test during your first or second trimester. These tests can help show if the developing baby (fetus) is at risk for Down syndrome.
- Diagnostic tests.
These include chorionic villus sampling and amniocentesis. They can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about Down syndrome.
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.
Your doctor will make a treatment plan that meets your child's needs. With care and support, most children who have Down syndrome can live full, healthy lives.
Getting regular medical care
You can help your child stay healthy by scheduling routine checkups. This will help to find, manage, and monitor any diseases and health problems that people with Down syndrome have a higher chance of getting.
Doctors look for specific problems at certain 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.
Helping your child to develop
Although it may take extra time for your child to learn and master skills, you may be surprised at how much your child will be able to do. With encouragement, your child can learn important skills. You can help your child learn to walk, talk, or eat by himself or herself. You can help your child make friends and do well in school. Later you can help your child learn job skills and maybe live independently.
Getting treatment for health problems
Your child may develop health problems related to Down syndrome. These may include ear infections, dental problems, or behavior issues. Your child may need:
- Medicines. This may include antibiotics for ear infections and thyroid hormones for an underactive thyroid gland (hypothyroidism).
- Regular screening for common issues. Examples are thyroid problems and hearing problems.
- A sleep study. This is to look for sleep apnea.
- Surgery. This may be done to correct problems such as heart defects, bowel obstruction, or spinal problems.
- Different types of therapy. This may include speech therapy, nutrition advice from a registered dietitian, or counseling for behavior problems. Physical and occupational therapy can also be helpful.
Caring for your baby or young child
- Be patient and upbeat with your young child as they learn to turn over, sit, stand, walk, talk, and master other skills.
- Help your baby learn to talk. Use simple communication. This includes looking at your baby while speaking or showing and naming objects.
- To help your child learn to walk:
- Move your baby's arms and legs in swimming motions.
- Bounce your baby on your lap while you hold your baby in a standing position.
- Help your baby roll over so that they can become stronger and more mobile.
- Support your baby in a sitting position, but let them lean forward for balance.
- Encourage your child's use and control of the large muscles of the legs, trunk, and arms and the smaller muscles of the hands:
- Place toys just out of your child's reach. Encourage your child to get them.
- Play pat-a-cake with your baby.
- Place your baby's legs so that they are touching when you carry or hold your baby.
- Let your child slap their hands and bang pots on the table at times.
- Enroll your young child (infant through age 3) in an early-intervention program. Trained staff will help your child get stronger and learn new skills.
- Know that it is okay for your child to be challenged and to sometimes fail.
Caring for your teen
- Encourage your teen to take part in school and community activities. Give your teen the chance to form healthy friendships. Friends can help your teen feel happy and like they are part of the group.
- Support your teen's interests, such as in art or music.
- Start early to prepare your child for healthy adult relationships. Puberty starts at about the same age for teens with Down syndrome as for other young people. Your child will have many of the same sexual feelings as other teens.
- Discuss love, mutual respect, kindness, and how to form friendships.
- Discuss birth control in a clear, simple way.
- Teach safer-sex practices to prevent sexually transmitted infections.
- Teach respect for his or her body and the bodies of others.
- Talk openly about your morals and beliefs.
- Be involved with your child's education. Your child may need an adapted curriculum and might attend special classes.
- Help your child set a daily routine to take care of hygiene needs. Teach him or her to shower or bathe and use deodorant.
- Encourage your child to be active. Find activities your teen enjoys. Regular exercise is important for your child's health and well-being.
- Help your child avoid abuse by teaching them how to be assertive and to recognize threats. These teens are more at risk for sexual abuse, injury, and other harm. Carefully screen caregivers. Teach your child to go out with a buddy. Talk about how to respond to strangers.
- Seek counseling for your teen if you notice signs of depression. Your teen is at increased risk for depression, especially after a loss or a major upset in the normal routine. A change in behavior is often the first sign of a problem.
- Start planning for your teen's future. Many adults with Down syndrome have jobs and live independently in group homes or apartments with support services. Occupational therapy can help teach your teen the skills they need for adult life.
It may be hard to care for a family member who has special healthcare needs. So it's important to find support so that you can give your child the best care you can.
Think about joining a support group in your area, or even online. These groups can help you connect with other parents who have a child with the same condition. They can also help you learn what resources you can find in your area.
Support groups can be a source of emotional support. But you may also find counseling useful. It can help you understand and deal with the wide range of emotions you may feel.
Your child will need help too. Providing emotional support for your child can help them cope with any problems they may face. And meeting other kids with the same condition can help your child feel like part of a community.
Working with your child's doctor
You can help your child stay healthy by scheduling routine checkups. This will help to find, manage, and monitor any diseases and health problems that people with Down syndrome have a higher chance of getting. These checkups are also a good time for you and the doctor to talk about any concerns you have.
Many parents have some of the same concerns as their children grow. These may include:
- Newborn concerns. Examples are where to get emotional support and learn about Down syndrome.
- Infant concerns. Examples are what therapies your child may need and how to prevent colds.
- Early childhood concerns. Examples are how to teach healthy behaviors, social skills, and diet and exercise habits.
- Middle and late childhood concerns. Examples include how to support independence and education, and what team sports your child can play.
- Adolescent and young adult concerns. Examples are what to expect during puberty and adulthood.
Current as of: November 22, 2021
Author: Healthwise Staff
John Pope MD - Pediatrics
Kathleen Romito MD - Family Medicine
Louis Pellegrino MD - Developmental Pediatrics
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