Down Syndrome

Down syndrome is, also known as Trisomy 21, a genetic illness that occurs in one out of 800 live births.


This disorder is the primary cause of cognitive disabilities. Trisomy 21 is related to mild to moderate cases of cognitive impairments, developmental impediments, low muscle tone during the early stage of infancy, and characterized by their distinct facial features. Many patients with Down syndrome also have leukemia, heart defects, gastrointestinal problems, early onset of Alzheimer’s disease, and other medical conditions. The manifestations of Trisomy 21 vary from mild to serious cases.

Longevity is decreased for patients with this syndrome. Fortunately, through the advent of technology, the life expectancy of these patients has now increased as social inclusion and medical care have enhanced. A patient with this condition, which has good health, will have a life expectancy average of 55 years or beyond. Down syndrome was identified after a physician named Langdon Down. He first described this condition as a disorder in 1866. Scientists were able to discover that this disorder take its roots to a person’s genetic makeup in 1959.

What are the Contributory Factors of Having a Child with Trisomy 21?

The solely well renowned risk factor for having a baby with Down syndrome is advanced woman’s age during pregnancy. The older a woman is during her pregnancy, the greater the chances of conceiving a baby with Down syndrome. Women who already conceived a baby with this disorder have an increase of a one per cent chance of having another baby with Trisomy 21. If one of the parents is a carrier of a translocation chromosome 21, the chances may be as high as 100 per cent. Women with this disorder have a 50 per cent risk of having a child with the same disorder. If the father of the baby has this disorder, the chance of having a baby with Down syndrome is as well increased.

What are the Manifestations and Characteristics of a Down Syndrome Patient?

Down syndrome symptoms severity ranges from mild to serious cases. Most patients with this disorder have commonly recognizable physical features. These involve:

• a flattened nose and face, a petite neck, a small oral cavity with a protruding, large tongue, upward diagonal eyes, small ear, and an epicanthal fold on the eyes (small skin folds located at the interior portion of the eyes);

• Brushfield spots or white spots might be seen on the iris or the colored portion of the eyes;

• broad and short hands with petite fingers, with one crease in the palm of the hands

• reduced muscle tone and slack ligaments are as well typical; and

• growth and development is typically impeded and frequently average developmental milestone and height are not attained.

What is the Available Prenatal Screening Test for Down Syndrome?

Numerous non-invasive screening tests are presented to parents. If Trisomy 21 is suspected due to the results of the screening test then an official diagnosis can be performed before the delivery of the baby. This will give the parents time to collect data about this condition before their child is delivered to make preparations in case of sudden complications.

Prenatal screening examinations at present are readily available which include the nuchal translucency exam, AFP or alpha-fetoprotein screening test, and supplementary ultrasound screens. This ultrasound results will be able to illustrate certain changes in the anatomical features of the unborn child. These said tests can only determine the risk for Down syndrome, these can’t confirm the occurrence of the disease with certainty.

The most commonly utilized screening test is the alpha-fetoprotein. This test can be done between the 15th and 20th week of pregnancy. In this procedure, a small amount of blood sample is extracted from the pregnant mother and sent to the laboratory for assessment. The AFP levels and three other hormones called human chorionic gonadotropin or HCG, inhibin-A, and unconjugated estriol are gauged in the blood sample. If the hormone and AFP levels are altered, this condition may be assumed, but not established. Likewise, a normal screen test outcome doesn’t exclude the incidence of this condition. The nuchal translucency exam gauges the width of the fold on the neck (See: neck pain relief) through the use of an ultrasound. This test can be performed between the 11th and 13th week of pregnancy.

How to Manage Down Syndrome?

Even though the genetic origin of Down syndrome is still not known, there is presently no identified treatment to cure this condition. Due to the advent of technology, scientists are gradually commencing to comprehend which gene is responsible for the characteristics of this condition. Although it will take numerous years to fully understand the multifarious relationship between the various genes.

Research studies are focused on understanding the origin of cognition impairment in Down syndromeDown syndrome and on finding probable treatments that may enhance learning. Corrective surgeries for gastrointestinal problems, heart defects, and other medical conditions are needed for some patients. Regular medical checkups must be scheduled to assess for other diseases such as ear infections, hypothyroidism (See: hypothyroidism symptoms), hearing loss, and obesity.

Other Nervous System Diseases, Symptoms and Diagnosis