What is Down Syndrome?

Down syndrome is a genetic condition caused by an extra chromosome 21. Because of this, it is also known as Trisomy 21. All human beings carry 46 chromosomes (23 pairs) under normal circumstances. In Down syndrome, the second copy of chromosome 21 alters development, causing characteristic features, some medical risks, and mental retardation.

It is the most common chromosomal disorder worldwide, in about 1 in every 700 live births.

Types of Down Syndrome

Down syndrome is not consistent. There are three primary types:

1. Trisomy 21 (95%): All cells of the body have an extra chromosome 21.

2. Mosaic Down syndrome (about 2%): Some cells have an extra chromosome 21, and some don’t. This may cause fewer characteristics.

3. Translocation Down syndrome (about 3%): One segment of chromosome 21 is joined with another chromosome. This can be inherited in some cases, unlike Trisomy 21.

Features and Characteristics

Most people with Down syndrome have common features, but not everyone appears identical. Common features include:

• Flat facial profile

• Upward slanting eyes

• Small ears

• Low muscle tone (hypotonia)

• Short stature

Along with physical features, most people have moderate to mild intellectual disability and developmental delays. However, with early intervention, they can achieve significant educational, social, and independence milestones.

Medical Problems

People with Down syndrome are at higher risk for the following medical problems:

•Congenital heart defects (found in nearly half of newborns with Down syndrome)

•Vision and hearing impairment

•Thyroid disease (especially hypothyroidism)

•Leukemia risk (higher than in the general population, but still rare)

• Obstructive sleep apnea

• Early-onset Alzheimer’s disease

All of these can be treated or managed with medical treatment.

Diagnosis and Screening

Down syndrome is detected:

• During pregnancy: Prenatal screening tests (such as non-invasive prenatal testing, or NIPT) and diagnostic tests (such as amniocentesis or chorionic villus sampling).

• After birth: On the basis of physical features and diagnosed through genetic testing.

Treatment and Support

Down syndrome cannot be “cured,” but early therapy and intervention are greatly beneficial. Some of these may involve:

•Speech therapy to facilitate communication

•Physical therapy to improve muscle tone and coordination

•Occupational therapy for skills of living

•Educational support modified to learning style

Perhaps as important, though, is support from family and integration into society, both of which significantly improve quality of life. Advances in medicine mean that people with Down syndrome today live healthier, longer, and more productive lives than ever before—many well into their 60s.

Living With Down Syndrome

Aside from the medical issues, it’s essential to note that people with Down syndrome possess special personalities, abilities, and aspirations. Most of them go to school, work, have relationships, and are actively engaged in their communities.

Studies also revealed that families with a child who has Down syndrome have reported high levels of love, resiliency, and happiness.

Final Thoughts

Down syndrome is not a disease to be “cured,” but rather a genetic disorder. By proper early intervention, ongoing support, and society’s acceptance, people with Down syndrome can lead full, independent, and fulfilling lives.

Awareness, acceptance, and access to health care continue to be the keys to allowing each individual to reach his or her potential.