Perspectives on Down's syndrome
Down syndrome was first described in 1800 by John Langdon Down. In 1959, genetic analysis allowed Dr. Jerome Lejeune to determine the cause of Down syndrome. People have 2 copies of each of 23 chromosomes. In Down syndrome instead of there being 2 copies of chromosome 21, there are 3. This is where the term trisomy 21 originates. Although the chromosomes themselves are normal, the presence of the extra chromosome results in a variety of well-described features and symptoms characteristic of Down syndrome (Unrah 1994).One might assume that since Down syndrome is genetic in origin, there is nothing that can be done for individuals with this disorder. The health of people with Down syndrome has been improved by the availability of antibiotics, the switch from institutional care to home care, and advances in heart surgery, which can correct congenital defects that afflict many children with Down syndrome. As many as 80% of individuals with Down syndrome are now living to be 50 years of age or more (Kolata 1985). It is important to recognize that although people with Down syndrome share many similarities, each person is unique. There is help for these individuals through proper medical care, wise nutrition and early intervention (Unrah 1994).
Much research in the 1980's was focused on the effect of megadoses of vitamins and minerals and their putative effect on IQ and mental functioning in individuals with Down syndrome (Weathers 1983; Smith et al 1984; Pruess et al 1989). Most of these studies did not show a beneficial effect, however they were focused solely on supplementary vitamins and minerals. The role of supplementary amino acids was not investigated. Recent work indicates anomalies in amino acid levels in the plasma and the urine of individuals with Down syndrome (Lejeune 1992). Furthermore, research has identified specific defects in metabolic pathways in Down syndrome (Feaster et al 1977; Sinet 1982; Chadefaux et al 1985; Lejeune 1992). Nutrients, including vitamins, minerals, antioxidants, and amino acids, play a role in these pathways. In addition, many children with Down syndrome suffer from malabsorption, celiac disease and lactose intolerance (Nowak et al 1983; Simila and Kokkonen 1990; Unrah 1994; Van Dyke et al 1995). Thus all nutrient needs may not be met in the diet alone.
Oxygen is essential for life. However oxygen can also be a harmful substance in our body. It can be converted to a free radical and cause cell and tissue damage through a process known as oxidation (Sinet 1982). Oxidation occurs, for example, when an apple exposed to air turns brown and when our cars develop rust from exposure to air and water. In the body, oxygen can ultimately be converted to hydrogen peroxide, which is also a powerful oxidant. An enzyme called superoxide dismutase is responsible for the generation of hydrogen peroxide. The gene for superoxide dismutase is located on chromosome 21 and it has been shown that the activity of the superoxide dismutase read more
