Trisomy 21

What is Trisomy 21?

Trisomy 21 is the most common chromosomal anomaly in humans, affecting about 5,000 babies born each year and more than 350,000 people in the United States. Also known as Down syndrome, trisomy 21 is a genetic condition caused by an extra chromosome. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes. Babies with Down syndrome however, end up with three chromosomes at position 21, instead of the usual pair. Trisomy 21 is the most common, occurring in 1 out of every 691 births. The disorder was first identified in 1866 by John Langdon Down, a British physician, and later named after him.

Down syndrome occurs because of the extra copy of chromosome 21, which can cause the body and brain to develop differently than a child without the syndrome. The risk of having a baby with Down syndrome increases as a woman ages — women older than 35 are often encouraged to have prenatal genetic testing done of their unborn babies — but, because younger women have more babies, they give birth to 80 percent of babies with Down syndrome.

II. Findings

In 1983, the life expectancy for people with Down syndrome was 25 years; however today, it is 60 years. Advances in cardiology have significantly contributed to this rapid increase. As science and technology continue to improve and the intricacies of Down syndrome are explored and discovered, it is expected that the life expectancy for people with Down syndrome will continue to increase too.

As your child with Down syndrome grows, he is at greater risk for certain medical problems and may develop: Congenital heart disease, Gastrointestinal abnormalities, Musculoskeletal and movement problems, Spine disorders such as scoliosis, kyphosis or lordosis, Endocrinologic disorders, Epilepsy, Hearing loss, Speech apraxia (difficulty making speech sounds), Sleep disorders, Feeding disorders, and Developmental disabilities (learning disabilities, intellectual disabilities and autism). Problems in any of these areas can affect your child's development and behavior.

There are Signs and symptoms of Trisomy 21, symptoms of Down syndrome may include Distinctive facial features, Mild to moderate intellectual disabilities, Heart, kidney and thyroid issues, Numerous respiratory infections, from colds to bronchitis and pneumonia, Skeletal abnormalities, including spine, hip, foot and hand disorders, Flexible joints and weak, floppy muscles, Overly quiet baby, Less responsive to stimuli, Vision and hearing impairment, Inwardly curved little finger, Wide space between the great and second toe, and deep crease on the soles of the feet and one or both hands.

Symptoms down syndrome symptoms vary from person to person and can range from mild to severe. No matter how severe the condition is, people with Down syndrome have a widely-recognized appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed. Common physical signs include:

• Decreased muscle tone at birth

• Excess skin at the nape of the neck

• Flattened nose

• Separated joints between the bones of the skull (sutures)

• Single crease in the palm of the hand

• Small ears

• Small mouth

• Upward slanting eyes

• Wide, short hands with short fingers

• White spots on the colored part of the eye (Brushfield spots)

• Physical development is often slower than normal. Most children with Down syndrome never reach average adult height.

Children may also have delayed mental and social development. Common problems may include:

• Impulsive behavior

• Poor judgment

• Short attention span

• Slow learning

• As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.

Many different medical conditions are seen in people with Down syndrome, including:

• Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect

• Dementia

• Eye problems, such as cataracts (most children with Down syndrome need glasses)

• Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia

• Hearing problems, probably caused by repeated ear infections

• Hip problems and risk of hip dislocation

• Long-term (chronic) constipation problems

• Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)

• Teeth that appear later than normal and in a location that may cause problems with chewing

• Underactive thyroid (hypothyroidism)

Tests to confirm Down syndrome are often done before a baby is born through amniocentesis or chorionic villus sampling (CVS). For amniocentesis, a needle is inserted through the mother’s abdominal wall into the amniotic sac and a small sample of amniotic fluid is drawn out and tested in a laboratory. If your child was not prenatally diagnosed with Down syndrome, diagnosis usually begins at birth based on your child’s physical appearance. Doctors will ask you for a thorough family medical history, do a physical exam of your child, and analyze your child’s chromosomes. Once a diagnosis is made, additional testing may be ordered to help clinicians better understand how Down syndrome may affect your child and help spot any early complications from the disorder.

Tests may include:

• Genetic testing, in which a sample of your child’s saliva is used to identify your child’s DNA.

• Blood tests, which can help determine drug usage and effectiveness, biochemical diseases and organ function.

• X-rays, which produce images of bones.

• Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.

• Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.

• EOS imaging, an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis — for some conditions — due to weight-bearing positioning.

There is no specific treatment for Down syndrome. If treatment is needed, it is usually for associated health problems. For example, a child born with a gastrointestinal blockage may need major surgery right after birth. Certain heart defects may also require surgery. When breast-feeding, your baby should be well supported and fully awake. Your baby may have some leakage because of poor tongue control. But many infants with Down syndrome can successfully breastfeed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, your child's neck and hips should be examined. Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.

Teen girls and women with Down syndrome are usually able to get pregnant. There is an increased risk for sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:

• Be taught about pregnancy and taking the proper precautions

• Learn to advocate for themselves in difficult situations

• Be in a safe environment

Special education and training are offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.

III. Conclusion

Today, children with Down syndrome are included in regular academic classrooms in schools across the country. In some instances, they are integrated into specific courses, while in other situations students are fully included in the regular classroom for all subjects. The degree of mainstreaming is based in the abilities of the child.

Individuals with Down syndrome, or trisomy 21, are valuable members of our society. Accepting them promotes diversity and inclusivity to our community. They have unique abilities and perspectives that can be show around the world. A person with trisomy 21 deserves to be treated with respect and dignity, regardless of their differences. By embracing diversity, we create a more inclusive environment for all individuals because people with Down syndrome have the right to live fulfilling and meaningful lives. Accepting individuals with Down syndrome is a reflection of our humanity and compassion and this build more inclusive society benefits everyone, creating a more harmonious community.

Many people with Down syndrome have gone to college, live independently and hold jobs. These individuals are hard workers and dedicated employees. A stimulating home environment, positive support from family and friends, quality educational programs and good healthcare enable people with Down syndrome to develop their full potential and lead fulfilling lives. Be creative, persistent and set high expectations.

Despite the advances, children with Down syndrome continue to have a higher risk of developing certain health conditions, such as heart disease, gastrointestinal abnormalities and dementia. Early diagnosis and treatment of these associated conditions leads to better outcomes.

With regular medical care and a solid support system, children with Down syndrome can lead long, full and happy lives.