How to Coping with Down Syndrome - Term Paper Example

Down syndrome Introduction Down syndrome is a genetic condition that results in birth defects, medical problems and some degree of mental retardation. It is also called as trisomy 21 as it is caused by the presence of complete or a part of an extra 21st chromosome. Down syndrome is named after John Langdon Down, the British doctor who first described it in 1866 who noticed a number of people in institutions having similar physical characteristics (Scouts, 2005). Often Down syndrome is identified at birth as it is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Causes and prevalence Common men have 23 pairs of chromosomes but a child with Down syndrome as mentioned earlier has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material is the root cause for the problems in the child with Down syndrome and it affects the way their bodies develop. In fact it is still unknown why such an extra chromosome occurs. It is estimated that approximately 4,000 children with Down syndrome are born in the U.S. alone every year (NICHCY, 2004). In general a child with Down syndrome could be born for any parents, the incidence is higher for women over 35 (Table 1). Table 1: Down Syndrome Incidence In Relation To Mother's Age Mother's Age (Years) Incidence of Down Syndrome Under 30 Less than 1 in 1,000 30 1 in 900 35 1 in 400 36 1 in 300 37 1 in 250 38 1 in 180 39 1 in 135 40 1 in 105 42 1 in 60 44 1 in 35 46 1 in 20 48 1 in 16 49 1 in 12 Source: Hook and Lindsjo (1978). Symptoms and Common features It is easy for a doctor to identify the child with Down syndrome at birth. In fact it is also possible to diagnose such defects in child in early stages of pregnancy. A newborn baby with Down syndrome often has physical features such as a flat facial profile, an upward slant to the eye and an extra fold of skin on the inner side (Epicanthal fold), a short neck, abnormally shaped ears, white spots on the iris of the eye also called Brushfield spots, and a single, deep transverse crease on the palm of the hand, smaller and/or shorter limbs, especially hands and feet, poor muscle tone (hypotonia) at birth making the baby feel and appear "floppy". Though a child with down syndrome may not exhibit all these features, it can be confirmed through the diagnosis, which is usually a blood test shortly after birth (The National Women's Health Information Center, 2006). The degree of medical problems and mental retardation varies. Besides talents, abilities and pace of development may also differ. Studies show that the degree of mental impairment is variable, ranging from mild (IQ: 50-70) to moderate (IQ: 35-50), and occasionally to severe (IQ: 20-35). In additiond to the above mentioned physical and mental problems there is an increased risk of congenital heart defects (50%); leukemia ( Read More