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Down Syndrome

Down Syndrome

Condition Basics

What is Down syndrome?

Down syndrome is a genetic condition. It affects childhood growth and development. People 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.

What are the symptoms?

People 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 people may also have certain health issues, such as a heart or breathing problem.

How is it diagnosed?

During pregnancy an ultrasound and a blood test can show if a fetus may be at risk for Down syndrome. Other tests can show if a fetus 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?

A baby with Down syndrome will be tested for health problems soon after birth. These include eye, ear, or thyroid problems. The sooner any 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 they need social and emotional support, counseling can help.

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Cause

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 usually do. This change in cell division 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 change in cell divisions that creates it.

What Increases Your Risk

The genetic changes that cause Down syndrome can happen to anyone who is pregnant. But the risk of having a child with Down syndrome is higher if you are older than 35 when you are pregnant. The risk is also higher if either birth parent has a sibling or another child with Down syndrome.

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Symptoms

People with Down syndrome can 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 person is different, and each will have unique strengths and abilities.

Some people 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.

What Happens

Every person's experience of Down syndrome is different. This condition can cause 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. As they get older they may need help to manage feelings and relationships, much like other children and teens.

Teens and adults may need occupational therapy to learn important life skills. It can help them prepare to have a job and live as independently as possible, for example in group homes or apartments with support services.

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:

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:

  • Acts differently or stops doing things that they used to. These may be a sign of pain or an illness.
  • Shows signs of mental health issues, such as anxiety or depression. Depression may be triggered by a big change or loss, such as the death of a family member or a change in a caregiver.

Exams and Tests

Several tests can be done during pregnancy to find out if a fetus has Down syndrome. You may decide to have:

Screening tests.

These include an ultrasound and a blood test during the first or second trimester. These tests can help show if a fetus is at risk for Down syndrome.

Diagnostic tests.

These include chorionic villus sampling and amniocentesis. They can show if a fetus 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.

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Treatment Overview

Getting regular medical care for your child

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

It may take extra time for your child to learn and master skills. But with your help, your child can learn to walk, talk, and eat by themself. As they get older, you can support them as they make friends, find hobbies, and go to school. Later you can help your teen learn skills to prepare to have a job and live as independently as possible.

Getting treatment for health problems

People with Down syndrome may develop health problems such as ear infections, dental problems, or heart problems. Treatments include:

  • 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, physical therapy, occupational therapy, and counseling.

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Self-Care

Caring for your baby or young child

  • Encourage your young child as they learn to turn over, sit, stand, walk, talk, and master other skills.
  • Help your child learn to talk. Use simple communication. This includes looking at your child while speaking or showing and naming objects.
  • To help your child learn to walk:
    • Move your child's arms and legs in swimming motions.
    • Bounce your child on your lap while you hold them in a standing position.
    • Help your child roll over so that they can become stronger and more mobile.
    • Support your child 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 child.
    • Place your child's legs so that they are touching when you carry or hold your child.
    • 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.
  • 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 teen 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 their own body and the bodies of others.
    • Talk openly about your morals and beliefs.
  • Be involved with your teen's education. They may need an adapted curriculum and might attend special classes.
  • Help your teen set a daily routine to take care of hygiene needs. Remind them to shower or bathe and use deodorant.
  • Encourage your teen to be active. Help them find activities that they enjoy. Regular exercise is important for your teen's health and well-being.
  • Help your teen avoid abuse by teaching them how to be assertive and to recognize threats. They may be more at risk for sexual abuse, injury, and other harm. Carefully screen caregivers. Teach your teen to go out with a buddy. Talk about how to respond to strangers.
  • Seek counseling for your teen if you notice signs of depression. Some teens need support to take care of their mental health. Your teen's doctor can help you find a counselor.
  • Start planning for your teen's future. Many adults with Down syndrome have jobs and live in group homes or apartments with support services. Occupational therapy can help teach your teen the skills they need for adult life.

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Getting Support

If you are caring for a child who has special health care needs, it may be helpful to get support for yourself.

Think about joining a support group in your area, or even online. Support groups can be a source of emotional support for you and your child. 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.

You may also find counseling useful. A counselor can help you understand and manage the wide range of emotions you may feel.

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 growth milestones and what therapies your child may need.
  • Early childhood concerns. Examples are how to teach healthy behaviors, social skills, and diet and exercise habits.
  • Middle and late childhood concerns. Examples are how to support independence, education, and activities such as sports.
  • Adolescent and young adult concerns. Examples are what to expect during puberty and adulthood.

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Credits

Current as of: April 2, 2023

Author: Healthwise Staff
Clinical Review Board
All Healthwise education is reviewed by a team that includes physicians, nurses, advanced practitioners, registered dieticians, and other healthcare professionals.

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