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Down Syndrome

Basic Information

Of the common autosomal trisomies found in live-born babies, only trisomy 21 is compatible with survival past infancy. The Phenotype produced by an extra chromosome 21, formerly known as mongolism but now known as the Down syndrome or trisomy 21 syndrome, is characteristic and easily diagnosed.

Down syndrome is the most common disorder of human chromosomes. Most people have 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. Down syndrome results from this extra genetic material.

Children with Down syndrome generally grow in height and weight more slowly, learn more slowly, and have more difficulty with complex reasoning and judgment than children of the same age. Growth and developmental milestones unique to children with Down syndrome have been developed and are widely available. As a child with Down syndrome reaches adolescence, he or she will become more aware of limitations and emotional issues may develop. A Down syndrome child will develop best emotionally by being involved in mainstream home, school, and community activities.

The health care needs of individuals with Down syndrome are better understood than ever before. Scientists are continuing to try to improve their understanding of the genetic basis of the syndrome, and 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 children lead productive and fulfilling lives.

Symptoms

Children with Down syndrome can have a variety of health concerns. Some children have heart murmurs at birth while others may have heart problems later in life. As the child grows older, vision, hearing, bone, joint, hormone, or dental concerns may develop. Because of these concerns, a child with Down syndrome needs more medical treatment and education to reach their full potential.

Congenital heart defects are frequently present in these infants. Early mortality is often a result of cardiac abnormalities. Gastrointestinal abnormalities such as esophageal atresia (obstruction of the esophagus) and duodenal atresia (obstruction of the duodenum) are also relatively common. Obstruction of the gastrointestinal tract may require major surgery shortly after birth. Children with Down's syndrome also have a higher than average incidence of acute lymphocytic leukemia. The normal life span is shortened in Down syndrome by congenital heart disease and by increased incidence of acute leukemia. The average mental age achieved is approximately 8 years old.

Diagnosis/Treatment/PREVENTION

It is usually diagnosed shortly after birth during a baby's first physical exam. The diagnosis is usually based on common 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. The muscle tone is usually low, making the arms and legs more relaxed.

Collaboration of the parents with physicians and intervention therapists can help children with Down Syndrome to reach their full potential. The combination of early intervention therapies, and improved medical care, parent education and increased social acceptance contribute to people with Down syndrome having better skills and higher levels of functioning than in past decades.

Professionals and their early intervention services and skills include:

  • Developmental pediatrician: Treats medical conditions affecting development
  • Infant educator: Thinking and problem solving skills
  • Pediatric physical therapist: Physical body movement skills
  • Pediatric occupational therapist: Feeding and hand coordination skills
  • Speech and language therapist: Communication skills
  • Mental health professional: Counseling and emotional support.

Health care for a child with Down Syndrome includes:

  • Feeding

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

  • Heart evaluation

    Because many children with Down syndrome are born with heart defects, a pediatric cardiologist should evaluate your child shortly after birth. An echocardiogram that uses sound waves to view the heart is recommended.

  • Thyroid screening

    Babies are usually tested in the hospital shortly after birth for low thyroid hormone level during the "newborn screen." There is an increased likelihood of low thyroid hormone levels in children with Down syndrome. Thyroid screening tests should be repeated at 6 months, 12 months, and then yearly.

  • Hearing

    Many children with Down syndrome have difficulties with hearing. This may be due to frequent ear infections or persistent fluid in the middle ear. Hearing problems may be infrequent or persistent. Any cause of hearing loss should be treated to maintain good hearing and improved language development.

  • Vision

    Eye problems occur more frequently than in the general population. Seven of every 10 children with Down syndrome will need glasses. Improper alignment of the line of sight (strabismus) occurs more frequently. Most children with Down syndrome need to see an eye specialist at their first birthday.

  • Dental

    The teeth of a child with Down syndrome often come in later than the teeth of most children. The first tooth usually appears between 12 and 48 months. Fifty percent of children are missing one tooth or more. Malocclusion (the teeth in a position where chewing is not easily performed) is frequent. This problem includes overbite (the upper teeth protruding forward) and crossbite (the lower teeth set to one side compared to the upper teeth). Careful attention to teeth brushing is needed to prevent cavities. Careful brushing and flossing are also important to prevent gum disease, a problem that is more frequent in children with Down syndrome. Children with congenital heart defects need antibiotic medicine before dental procedures.

  • Breathing and Sleep Apnea

    Air passages in the nose, mouth, and chest are smaller than in other children.. Mouth breathing may develop and this can lead to dental occlusion. Snoring may be a sign of a narrowed airway. Narrowing may become so severe that the airway becomes blocked, causing airflow to stop - known as sleep apnea.

  • 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. If a child has too much movement in the uppermost bones in the spinal column, the condition is called "atlanto-axial instability." Dislocation, or slippage, of these bones in the upper spine in children with the instability is uncommon but can result in serious injury. A careful examination of the neck is important before participation in sports.