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Down Syndrome

What is Down syndrome?

Down syndrome is a genetic disorder that causes problems with the way the brain and body develop. Children with Down syndrome grow more slowly, learn more slowly, and think and solve problems more slowly than other children.

Children with Down syndrome may reach goals and milestones more slowly, but most can go to school, get jobs, and enjoy many of the same kinds of things that other kids do.

What is the cause?

Our bodies are made up of cells. Inside the cells are tiny tubes called chromosomes. People normally have a total of 46 chromosomes. Most children with Down syndrome have a total of 47 chromosomes. What causes this extra chromosome and how it causes the problems of Down syndrome is not known.

The risk of having a child with Down syndrome increases as a woman gets older, and the risk is greatest when the mother is over 35 years of age.

What are the symptoms?

There are many symptoms, but not all children with Down syndrome will have all of these symptoms, and may have some that are not on this list.

Physical signs

Children with Down syndrome may have:

  • A single deep crease across the center of the palm
  • An upward slant to the eyes
  • A small nose and mouth
  • Loose or floppy muscles
  • Small hands and feet

Your child may be shorter than other children at the same age. He may also tend to keep his mouth open with his tongue sticking out.

Health problems

Children with Down syndrome may have:

  • A small mouth and a tendency to stick out the tongue, which may cause drooling or spilling food and liquid out of the mouth. This problem goes away during infancy as tongue control improves.
  • Neck pain, head tilt, weakness, or changes in walking caused by looseness of the bones in the upper spine
  • Narrow airways in the nose, mouth, and chest can cause mouth breathing. This in turn can lead to teeth problems, snoring, and sleep apnea. Sleep apnea means that your child stops breathing for several seconds while asleep.
  • Hearing problems
  • Heart problems
  • Thyroid problems
  • Frequent infections, such as colds, ear infections and pneumonia
  • Vision problems that are corrected by wearing glasses or by other treatments
  • Dental problems and gum disease

Learning problems

Children with mild learning problems may:

  • Be slower than most children in learning to walk, feed themselves, and talk
  • Learn to read, write, solve problems, and do math only up to the 3rd or 6th grade level

Children with severe learning problems may:

  • Learn only basic skills such as bathing and feeding themselves by teen years.
  • Have very limited ability to understand and communicate with others.

Behavior problems

Some children with Down syndrome have problems with:

  • Being easily frustrated and having temper tantrums
  • Touching their private parts in public or making sexual comments
  • Staring at people
  • Being very sensitive to new sights, sounds, smells, touches, or changes in their routine
  • Unusual behaviors such as hand flapping, hand biting, poor eye contact, chewing on clothes, and pulling away from touch

Most children with Down syndrome are gentle, cheerful, and patient. They usually do not have other behavior problems. However, they can have health and behavior problems just like any other child, such as:

  • Attention deficit hyperactivity disorder
  • Autism spectrum disorders
  • Depression

How is it diagnosed?

Down syndrome may be diagnosed before birth, or shortly after birth during a baby's first physical exam.

The diagnosis before birth may be based on:

  • Blood tests of the mother
  • Chorionic villus sampling, or CVS, which tests a sample of cells from the placenta
  • Amniocentesis, which uses a needle put into the mother's belly to draw a sample of fluid from around the baby
  • An ultrasound, which uses sound waves to show pictures of the unborn baby

The diagnosis after birth is usually based on how the child looks. The diagnosis is confirmed by a blood test on the baby that checks the baby’s chromosomes.

What is the treatment?

There is no one best treatment for all children with Down syndrome. Before you decide on your child's treatment, find out what your options are. Learn as much as you can and make your choice for your child's treatment based on your child's needs.

Babies with Down Syndrome may be able to get special services within the first year of life if they need it.

Usually children are placed in public schools and the school district provides all needed services. These will include working with a speech therapist, occupational therapist, school psychologist, social worker, school nurse, or aide. You may want to visit public schools in your area to see the type of program they offer to special needs children.

A team of professionals will help evaluate your child and put a plan together. You may also ask your healthcare provider to review the plan. Ask and find out all the services that may be available for your child.

Speech, language, occupational, and physical therapy are very important to help your child. A cognitive behavioral therapist can help your child learn to manage stress. Other therapies may include art therapy, music therapy, or sensory integration, which helps reduce your child's sensitivity to touch or sound. Treatment will also include doing activities at home.

Your provider will treat ear infections, heart conditions, seizures, or other problems as needed. Medicine may be used to treat anxiety or behavioral problems. These medicines must be prescribed by a doctor experienced with their use in children with this disorder.

Parents often learn of new or alternative treatments through friends or the media. No diet or dietary supplement has been proven to treat Down syndrome. Your provider can help you decide if alternative treatments could help or harm your child.

How can I help my child?

  • Look for your child’s strengths. No one knows what your child may be able to do in time, so don’t set your expectations too low. Encourage your child to try new things.
  • Work with your child’s treatment team to learn how best to help your child, including ways to respond to behavior problems.
  • Join a support group. Support groups can help by sharing common concerns and solutions to problems with other families in the same situation. You can find these services through your healthcare provider, schools, therapy programs, and local and national support organizations.
  • See a mental health professional to help you cope with your stress.
  • Learn as much as you can about Down syndrome. For more information, contact:
Written by Robert Brayden, MD, Clinical Professor of Pediatrics, University of Colorado School of Medicine.
Pediatric Advisor 2015.2 published by RelayHealth.
Last modified: 2013-04-18
Last reviewed: 2013-04-18
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
Copyright ©1986-2015 McKesson Corporation and/or one of its subsidiaries. All rights reserved.
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