What is down syndrome?

Down syndrome is a genetic condition caused by having an extra chromosome. It affects a baby's development. Children who have this condition may share similar features and have certain health issues. As they grow, they often learn to talk later than other children and have some intellectual disability. But with extra care and support, most people with Down syndrome can live full, healthy lives.

When you find out that your child has Down syndrome, you might have a wide range of feelings. You might also have a lot of questions. Your doctor can help answer your questions and connect you with resources to help you learn more.

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. Most people with Down syndrome can live happy, healthy, and productive lives.

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.

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.

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.

You can help your child improve muscle control and learn new skills. Playing games like pat-a-cake can help your baby learn to control their arm and hand muscles. Helping your baby learn to roll over can help with mobility and strength. Remember to be patient and upbeat as your child learns.

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.

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.

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.

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.