Down Syndrome

WHAT YOU SHOULD KNOW:

• Down syndrome is a condition that often leads to learning problems, slow growth, and health problems in children. It is also called Down's syndrome and is caused by a problem in the number of chromosomes. Chromosomes hold the genes, which are pieces of information in the body that tell it what to do or make. Normally, a person has 46 chromosomes arranged in 23 pairs, with 23 chromosomes coming from each parent. With Down syndrome, three copies of chromosome 21 were made instead of two. This is why Down syndrome is also called trisomy 21.
  
  
• Children with Down syndrome may have some of the same physical features. Down syndrome children are often short for their age and have floppy (limp) muscles or small heads. They may have upward slanted eyes, a flattened nose, or a small mouth with large tongue. Their hands may be broad with a single deep crease on the palm, and short fingers. Down syndrome may be diagnosed by certain tests that look at the child's chromosomes before or after he is born. Treatment includes helping your child use his abilities to the highest level. This may include physical, occupational, and speech therapies. Some medicines and surgery can control and treat other health problems. With care, treatment, and support, your child may grow up and live just like other people do.

CARE AGREEMENT:

You have the right to help plan your child's care. Learn about your child's health condition and how it may be treated. Discuss treatment options with your child's caregivers to decide what care you want for your child.

RISKS:

There is no cure for Down syndrome. Treatment is aimed at the other health problems that may come with Down syndrome. These treatments may cause unpleasant effects. With surgery, your child may bleed too much or have an infection. Medicines may cause an allergic reaction or other side effects. Early help and support for your Down syndrome child is very important. Regular screening and monitoring of his health are also needed. Without regular screening and monitoring, your child's health, quality of life, and ability to function may worsen over time. Ask your caregiver if you are worried or have questions about your child's condition, treatment, or care.

WHILE YOU ARE HERE:

Informed consent:

A consent form is a legal document that explains the tests, treatments, or procedures that your child may need. Informed consent means you understand what will be done and can make decisions about what you want. You give your permission when you sign the consent form. You can have someone sign this form for you if you are not able to sign it. You have the right to understand your child's medical care in words you know. Before you sign the consent form, understand the risks and benefits of what will be done to your child. Make sure all of your questions are answered.

Emotional support:

Stay with your child for comfort and support as often as possible while he is in the hospital. Ask another family member or someone close to the family to stay with your child when you cannot be there. Bring items from home that will comfort your child, such as a favorite blanket or toy.

Medicines:

Your child may be given any of the following kinds of medicine:

• Antibiotics: This medicine is given to help prevent or treat an infection caused by bacteria.
  
  
• Anticonvulsant medicine: Anticonvulsants are given to control your child's seizures.
  
  
• Heart medicine: This medicine may be given to make your child's heart beat stronger or more regularly. There are many different kinds of heart medicines. Talk with caregivers to find out what your child's medicine is and why he is taking it.

Tests:

Your child may have one or more of the following tests:

• Blood tests: Your child may need blood tests to give caregivers information about how his body is working. The blood may be taken from your child's arm, hand, finger, foot, heel, or IV.
  
  
• Eye tests: These tests help caregivers learn about your child's vision and check for other problems in the eyes.
  
  
• Hearing tests:
  
  
  • Auditory brainstem response (ABR) test: This is a test to check for hearing loss in your child. Small patches will be taped to your child's head. Your child will have earphones on that will make sounds. A special machine is used to measure how your child's cochlea and nerves react to the sounds. Your child's caregiver may want your child to be asleep during this test.
    
    
  • Otoacoustic emissions test (OAE): This test measures how the cochlea responds to normal sounds around your child. As the cochlea works, it sends out a very low sound that can be measured. Caregivers listen for it with a very sensitive microphone.
    
    
  • Pure tone test: Tones or sounds are played to see what your child can and cannot hear.
  
  
• Echocardiogram: This test is also called an echo. Sound waves are used to show pictures of the size and shape of your child's heart. The echo can also show how well the heart is pumping and how well blood flows through it. Your child will lie down during the test. Caregivers will squirt clear gel onto your child's chest to help the echo probe move easily. The echo pictures are shown on a TV-like screen. The whooshing noise that you may hear is the sound of blood flowing through the heart. Caregivers may ask you to stay in the room with your child during this test.
  
  
• Magnetic resonance imaging scan: This test is also called an MRI. The test uses magnetic waves to take pictures of your child's head and neck. Caregivers may use an MRI to look at your child's brain, spinal cord, muscles, joints, or bones. Your child will need to lie still during a MRI. Never enter the MRI room with an oxygen tank, watch, or any other metal objects. This can cause serious injury. Tell your caregiver if your child has any metal implants in his body.
  
  
• X-rays: X-rays of different parts of your child's body may be taken. These may include your child's chest (lungs and heart), abdomen (belly), or neck. X-rays may help caregivers look for signs of infection, blocked intestine (bowel), broken bones, or other problems.

Treatment options:

Your child may need surgery to treat other health problems that may come with Down syndrome. Surgery may be done to correct problems, such as heart defects, blocked bowels, or spinal cord compression. Problems hearing or seeing may be treated by replacing an ear bone or removing cataracts from the eye. Surgery may also be done to treat or prevent further infections, or worsening of symptoms.

Learn more about Down Syndrome (Inpatient Care)