Patient education: Down syndrome (The Basics)

What is Down syndrome? — Down syndrome is a condition that happens when a person is born with an extra chromosome. Chromosomes are tiny parts of cells that carry the plans that make our bodies the way they are.

Typically, people are born with 23 pairs of chromosomes, giving them 46 in total. People with Down syndrome have an extra copy of chromosome 21. This can be a full or partial extra copy. When someone has a full extra copy, meaning they have 47 chromosomes in total, it is called "trisomy 21."

Down syndrome causes intellectual disability. This can make it more difficult for a person to learn, communicate, and do certain tasks. It can also cause medical problems affecting the heart, blood, digestive system, and other organs. The level of disability in people with Down syndrome can range from mild to severe.

The chances of giving birth to a baby with Down syndrome increase as a person gets older.

What are the signs of Down syndrome? — When a baby with Down syndrome is born, they often have:

●A flat face

●Extra skin at the back of the neck

●Eyes that slant up

●Loose and floppy muscles

●Ears that look unusual

●Only 1 crease across the palm of the hand (figure 1)

●A wide gap between the big toe and the second toe

As children with Down syndrome get older, they can also have:

●A small head or short neck

●A flat top part of the nose

●Small or unusual ears

●Problems with their teeth

●An open mouth with a tongue that sticks out

●Short, wide hands

●A belly button that bulges out

Is there a test for Down syndrome? — Yes. Pregnant people can choose to test their baby for Down syndrome before the baby is born. Doctors can do different tests at different times during pregnancy to check if a baby has Down syndrome.

A doctor can also do a blood test to check a baby for Down syndrome after they are born if the baby has signs of Down syndrome.

What intellectual problems can be caused by Down syndrome? — Babies with Down syndrome can take longer to learn how to sit, walk, and talk. This is called "developmental delay." Almost all people with Down syndrome also have intellectual disability with a low IQ. They might have challenges with language or memory. These can be mild or severe.

Children with Down syndrome might also have trouble with their behavior. For example, it might be hard for them to still, or they might act aggressive. But not all children have these problems.

What medical problems can be caused by Down syndrome? — A person with Down syndrome can have different types of medical problems and some features that are different from those of people without Down syndrome. The medical problems can affect a person's:

●Heart

●Blood

●Infection-fighting system (called the "immune system")

●Digestive system

●Hormones, which are substances that control the way the body works

●Breathing

●Bone joints

●Vision and hearing

●Skin

Not all people with Down syndrome have all of these problems.

Should children with Down syndrome see a doctor or nurse? — Yes. Children with Down syndrome should see a doctor or nurse for regular check-ups. The doctor or nurse will do exams and tests to check for health issues or other challenges that can be caused by Down syndrome (table 1). Then, they can recommend treatments if needed.

How is Down syndrome treated? — Doctors can treat most of the medical problems that are caused by Down syndrome. For example, a doctor can do surgery to treat a heart problem. Or a child can wear glasses to fix a vision problem.

Depending on the person's needs, different types of therapy and support can also help. For example, children can get extra help in school.

Can females with Down syndrome get pregnant? — Yes. Females with Down syndrome can get pregnant. If you have a daughter with Down syndrome, it's important to talk to her about sex and sexuality as she gets older. A doctor or nurse can suggest options for birth control if needed.

What will life be like for a person with Down syndrome? — Many people with Down syndrome live happy and full lives. But they usually need help with some day-to-day tasks.

Taking care of someone with Down syndrome can be challenging. If you are having a hard time taking care of your child or family member, talk with your doctor or nurse. They can work with you to get help.

More on this topic

Patient education: Testing for Down syndrome during pregnancy (The Basics)
Patient education: Amniocentesis (The Basics)
Patient education: Chorionic villus sampling (The Basics)
Patient education: Newborn appearance (The Basics)

Patient education: Down syndrome (Beyond the Basics)
Patient education: Should I have a screening test for Down syndrome during pregnancy? (Beyond the Basics)