A basic term for a congenital birth defect or congenital disorder is that it is a medical condition present at birth. The defect manifests itself as a structural malformation of a body part which is significant enough to present a problem. Statistics show that about 2% to 3% of babies are born with congenital birth defects. One of these congenital conditions is Trisomy 21, more commonly known as Down’s Syndrome. Congenital conditions can be classified as diseases, disorders, anomalies, defects, or simple generic differences.
Down’s syndrome is the commonest of the chromosomal disorders and a major cause of mental retardation. In the United States the incidence in newborns is about 1 in 700. Approximately 95% of affected individuals have Trisomy 21, so their chromosome count is 47. (Robbins and others 1989) As simply stated, this condition is caused by the presence of an extra chromosome which is the 21st chromosome. This condition is named after John Langdon Down, M.D., the first individual who discovered it.
The incidence in the general population is 1 in 600-800 live births. Among all conceptuses, greater than twice this frequency occurs, but more that half of the Trisomy 21 fetuses are spontaneously aborted during early pregnancy. (Behrman and Vaughan 1987) As is common to persons with Down’s syndrome, the impairment of cognitive ability, facial appearance, and physical growth are some indications of the defect.
A simple and basic illustration of the birth defect is as follows; a normal human cell contains 21 pairs of chromosomes which carry all of a person’s genetic information. Due to several possible abnormal mechanisms of cell reproduction, patients with Down syndrome have an extra (third) copy of the 21 chromosome. Thus, Down syndrome is also called Trisomy 21. (www.cincinattichildrens.org 2006) In addition to this, the specific physical characteristics of this defect in infancy typically involve low muscle tone, flat appearance of the face, upward slanting eye creases, small ears, single skin crease in the palm, extremely flexible joints, and a large tongue.
Those afflicted with this condition were called mongoloids but the name was later dropped from medical literature because this term was called as an ethnics insult, especially to the people from Mongolia.
To cope with the needs of a child with Down’s syndrome, it is suggested that he/she should be placed in a conducive family environment where he/she can learn about the surrounding in a significant pace. Early childhood intervention, screening for common problems, medical treatment were also suggested. It was elaborated, in addition, that although some physical genetic limitations of one suffering from this defect cannot be cured or remedied, education and proper care will help in improving the patient’s quality of life in the long run.
One other way to ease the burden of having this dilemma is genetic counseling. It is a communication process dealing with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. (Behrman and Vaughan 1987)
1) Behrman RE., Vaughan VC III, Waldo NE. 1987. Textbook of Pediatrics. 13th edition. Philadelphia, PA: W.B. Saunders Company. 1640 p.
2) Robbins SL, Cotran RS, Kumar V. 1989. Robbins Pathologic Basis of Disease. 4th edition. Philadelphia, PA: W.B. Saunders Company. 1519 p.
3) www.cincinnatichildren.org. 2006. Down Syndrome (Trisomy 21) [Internet]. Cincinnati Children’s Hospital. [cited 28 February 2006]. Available from: http://www.cincinnatichildrens.org/health/heartencyclopedia/disease/syndrome/down.htm