Girl with Down Syndrome

Down Syndrome Awareness

There are many congenital anomalies known to affect humans and one of them is Down syndrome, also known as Trisomy 21. In medical parlance, Down syndrome is defined as a congenital state characterized by mental retardation ranging from moderate to severe; the presence of anatomical features such as a wide short skull, slanting eyes and broad hands with stubby fingers; and a trisomy (having a triploid chromosome set in a setting when a diploid set is considered normal) of the chromosome numbered 21. This aberration causes the affected individual to be born with a total of 47 chromosomes instead of the usual 46.

The term “Down syndrome” is attributed to a certain British doctor named John Langdon Haydon Down. It was his treatise describing the syndrome, published in 1866, that led to the discovery of and eventually sparked subsequent studies on the condition now commonly referred to as Down syndrome, or Down’s syndrome.

WHAT ARE ITS SYMPTOMS? Symptoms of Down syndrome are manifested differently in one afflicted individual and another, not only physically but also in the degree, or level, of severity. Despite this, people with this kind of congenital anomaly, regardless of age or race, share a handful of recognizable bodily features that are unmistakably those of Down syndrome.   Some of these physical signs include a head that is abnormally shaped and typically undersized; oblique eye fissures; abnormally small chin; presence of excess skin at the back of the neck; poor muscle tone; flat nasal bridge; presence of only one line or ridge in the palm of the hand; protruding tongue; unusually small ears, mouth, hands and fingers; and visible white spots (Brushfield spots) on the iris of the eyes.

Typically, children diagnosed with Down syndrome have short stature and never attain their projected or ideal adult height, mainly because there is slowed physical growth. Apart from delayed bodily development, there are also mental (intellectual disability) and social retardation, which pose various problems such as impulsive or reckless behavior, poor judgment, brief attention span, slow learning and strong feelings of anger and frustration.

HOW IS DOWN SYNDROME DIAGNOSED? To confirm a diagnosis of Down syndrome, a blood test is usually performed to check the presence of an extra chromosome. Other tests or examinations that may be carried out include nuchal translucency test, echocardiogram, ECG, ultrasound, and chest and gastrointestinal tract X-rays.

Those who are found to be positive for the disorder should undergo yearly eye exams, annual or bi-annual hearing tests, bi-annual dental exams and annual thyroid tests. They should also undergo X-rays of the upper or cervical spine starting as early as 3 years of age and, in females, Pap smears and pelvic exams starting during adolescence or by age 21.

HOW IS IT TREATED? To date, there is no specific treatment for Down syndrome. The treatment at present mainly focuses on addressing specific medical problems. For instance, a child born with cardiac or gastrointestinal defects may require surgery to immediately rectify the problem. When it comes to dealing with the emotional and social problems associated with the disorder, it is important that caregivers of those afflicted undergo behavioral training, not only to handle all the frustration and compulsive behavior, but also to foster independence early on in life.

By Ritu Goel, MD