Clinical Reference Systems: Pediatric Advisor 10.0

Description

Down syndrome is a genetic disorder. The genes of most people are located on 23 pairs of chromosomes (a total of 46 chromosomes) in nearly every cell of their body. Children with Down syndrome have extra genetic material from one of the chromosomes, called chromosome 21. Most children with this syndrome have a third copy of this chromosome, so that they have a total of 47 chromosomes. Down syndrome results from this extra genetic material. Scientists are still learning about what causes this extra genetic material and exactly how it causes the problems of Down syndrome.

Down syndrome is the most common disorder of human chromosomes. It is usually diagnosed shortly after birth during a baby's first physical exam.

Diagnosis

The diagnosis is usually based on physical characteristics of the syndrome. Eyes often have a slant to the openings and extra skin at the middle corner. The mouth tends to stay open with the tongue sticking out. Muscle tone is usually low, making the arms and legs more relaxed.

Growth and Development

Growth and development is unique to every child. Children learn to walk, run, use their hands and eyes, understand language, speak, think, and solve problems at different rates. Children with Down syndrome, like all children, do all of these things too. However, children with Down syndrome generally grow in height and weight more slowly, learn more slowly, and have more trouble with complex reasoning and judgment than other children.

Children with Down syndrome generally should not be compared in their development with other children. Growth and developmental milestones unique to children with Down syndrome have been developed and are available.

As a child with Down syndrome reaches adolescence, he or she will become more aware of his or her limitations; as a result, emotional problems sometimes occur at this age. Doctors believe that a child's emotional health is best supported by staying involved in mainstream home, school, and community activities as fully as possible.

Health Care for a Child with Down Syndrome

Children with Down syndrome can have a variety of health problems. Some children have heart problem at birth while others with Down syndrome have heart problems later in life. As the child grows older, he may have vision, hearing, bone, joint, hormone, or dental problems. Because of these problems, a child with Down syndrome needs more medical and dental care and educational help to reach his or her full potential.

1. Feeding

   Breast-feeding a baby with Down syndrome is usually successful and improves the infant's ability to fight infection.

   Children with Down syndrome tend to have a small mouth and smooth, flat tongue. This may cause spilling of liquids out of the side of the mouth. This problem usually goes away during infancy as tongue control improves.

   Make sure your infant is fully awake before feeding. Place pillows underneath the baby during the feeding. Using a hand to support your child's chin and throat can sometimes help during feeding. Talk to your doctor if you have additional questions.

2. Heart evaluation

   Because many children with Down syndrome are born with heart defects, your child should be checked by a pediatric cardiologist soon after birth. A test called an echocardiogram, which uses sound waves to create a picture of the heart, is recommended.

3. Thyroid screening

   Babies in nearly all states are tested in the hospital shortly after birth for low thyroid hormone levels. This is usually one of several tests known as the "newborn screen." Make sure your doctor knows the results of this test because there is an increased likelihood of low thyroid hormone levels in children with Down syndrome.

   Thyroid screening tests should be repeated for children with Down syndrome at 6 months, 12 months, and then each year thereafter.

4. Hearing

   Many children with Down syndrome have difficulties with hearing. Often this is due to frequent ear infections or fluid in the middle ear. There may be other reasons for poor hearing. Hearing problems may come and go or be always present. Any cause of hearing loss should be treated by your doctor to maintain good hearing and allow better language development.

5. Vision

   Eye problems occur in individuals with Down syndrome slightly more often than in the general population. Seven of every 10 children with Down syndrome will need glasses. Improper alignment of the line of sight also occurs more frequently and needs to be treated. Most children with Down syndrome need to see an eye doctor at about one year of age.

6. Dental and oral concerns

   The teeth of a child with Down syndrome usually come in later than the teeth of most children. The first tooth usually appears between 12 and 48 months. Fifty percent of children with Down syndrome are missing one tooth or more.

   Frequently, their teeth will not be in the best position for chewing. For example, a child may have an overbite (the upper teeth coming out forward) or a crossbite (the lower teeth set to one side of the upper teeth).

   For an unknown reason, cavities are less frequent. However, careful brushing and flossing is needed to prevent cavities and gum disease. Gum disease is a problem which is more frequent in children with Down syndrome.

   Children with congenital heart defects who are going to have dental procedures performed often need antibiotic medicine before the procedure.

7. Breathing and sleep apnea concerns

   Air passages in the nose, mouth, and chest are smaller than in other children. As a result of the narrowing, a number of problems can occur. Mouth breathing may develop and this can lead to teeth problems. Snoring may be a sign of a narrowed airway. Narrowing may become so severe that the airway becomes blocked, causing air flow to stop. This problem is known as sleep apnea.

   Check with your doctor if your child snores a lot, especially if they have loud snoring, followed by silence, a snort, partial awakening, and then snore again.

8. Cervical (neck) spine x-ray

   Between the ages of 3 and 5 years, all children with Down syndrome should have x-rays of the upper spine. The x-rays are taken to look for too much movement of the bones in the upper spine when the neck is held in different positions. If a child has too much movement, the problem is called "atlanto-axial instability."

   Dislocation, or slippage, of the these bones in the upper spine is not common but can result in serious injury. Usually, before an injury, the child would have several weeks of symptoms such as: neck pain, head tilt, breathing changes, weakness, or changes in walking ability. If your child has these symptoms, tell your doctor so the spine can be checked. A careful exam of the neck is also an important part of the checkup your child should have before participating in many sports.

9. Unproved therapies

   You will probably hear of many treatments for children with Down syndrome. They may range from megavitamin therapy to facial surgery. The good effects of many of these treatments are unproven and some may be harmful. Check with your child's doctor before trying any treatment.

Early Intervention

Early intervention services are a variety of therapies that parents and professionals do together to help a child reach his or her greatest potential. The combination of these therapies, along with improved medical care, parent education, and increased social acceptance, are believed to account for individuals with Down syndrome generally having better skills and higher levels of functioning than in past decades.

The following is a list of professionals who are involved with early intervention services:

• Developmental pediatrician: evaluates and treats medical factors affecting development.
• Infant educator: helps with thinking and problem solving skills.
• Pediatric physical therapist: helps with body movement skills.
• Pediatric occupational therapist: helps with feeding and hand skills.
• Speech and language therapist: helps with communication skills.
• Mental health professional: Provides counseling and emotional support.

Summary

The health care needs of children with Down syndrome are better understood than ever before. Scientists are trying to improve their understanding of the genetic basis of the syndrome. Much can be done to prevent and treat medical problems associated with the syndrome.

Although children with Down syndrome may be slow in their achievements and must overcome the misconceptions of others, most lead productive, fulfilling lives. You can help your child reach his or her potential by making sure your child has regular checkups and receives preventive medical treatment.

Additional information about Down syndrome is available from a wide variety of books, on-line services, and parent and professional organizations.