Apanemia Health Centre

There are three main types of chromosomal abnormalities in Down syndrome:

a) The vast majority of children with Down syndrome (about 95%) have an extra chromosome 21. Instead of the normal number of 46 chromosomes in each cell, the individual with Down syndrome has 47 chromosomes. This abnormality known as Trisomy 21.

b) The second type is called translocation since the extra chromosome 21 is linked or translocated on another chromosome, usually chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome is important to examine the chromosomes of the parents since at least one third of cases, a parent may be the carrier of the translocation. This form of chromosome error is between 3 and 4% of individuals with Down syndrome.c) Another problem called chromosomal mosaicism is seen in about 1% of individuals with Down syndrome. In this case, some cells have 47 chromosomes and others have 46 chromosomes. Mosaicism is thought to be the result of an error in cell division soon after conception.

Many theories have been developed but did not really know the cause of Down syndrome. Some researchers believe that hormonal abnormalities, X-rays, viral infections, immune problems or a genetic predisposition may cause inappropriate cell division that produces the syndrome.

One can easily assume that because Down syndrome is a genetic cause, there is nothing you can do to help patients who suffer from this problem. The health of people with Down syndrome has improved the availability of antibiotics, the change in institutional care to home care and advances in heart surgery, which can correct birth defects afflicting many babies Down’s Syndrome. Roughly 80% of individuals with Down syndrome now able to live to 50 years or more. It is important to recognize that although people with Down Syndrome share many similarities, each person is unique. They can offer much help to these people through appropriate medical care, proper nutrition and early intervention.

In the 80′s, much research has focused on the effect of megadoses of vitamins and minerals and its putative effect on IQ and mental functioning in individuals with Down syndrome. Most of these studies showed no beneficial effect, however we must clarify that focused solely on supplementary vitamins and minerals. Not investigated the role of complementary amino acids. The recent research indicate abnormalities in the levels of amino acids in plasma and urine of individuals with Down syndrome. In addition, research has identified specific defects in certain metabolic reactions in Down syndrome itself. Nutrients including vitamins, minerals, antioxidants and amino acids play an important role in these metabolic reactions. Addition, many children with Down syndrome suffer from malabsorption, celiac disease and lactose intolerance. Thus, it may not all nutritional needs are met with pure diet.