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Down's Syndrome

A defective chromosome 21 in an individual causes the genetic abnormality known as Down's syndrome. Individuals suffering from Down's syndrome show some characteristic features and conditions, such patients are mentally retarded and display various other disorders and physical abnormalities including the onset of early or premature aging, often accompanied by conditions such as Alzheimer's disease before age of forty. Individuals afflicted with Down's syndrome are also short in stature and have a very flaccid musculature, they are prone to frequent infections, and suffer from many autoimmune diseases, conditions such as hypothyroidism are usually present in such individuals, these persons may also suffer from leukemia, and other defects of the heart.

With a frequency of occurrence in roughly one in every 700 to 800 births worldwide, Down's syndrome is the most common form of congenital genetic defect and affects a lot of individuals.

Infants with Down's syndrome have a typical physical appearance and many newborns affected by Down's syndrome are often very lethargic and are not given to crying, the physical attribute can also include the presence of extra skin around the neck of such children. All individuals afflicted by Down's syndrome have a characteristic appearance and facial features are similar in all children and adults with Down's syndrome, these include the presence of slanted eyes, a flattened nose and a large tongue, the ears are typically very small and the fingers are short on comparatively broad hands. All such individuals face some difficulty in performing the normal day to day activities performed by average individuals because of accompanying mental retardation.

The nutritional status of children affected by Down's syndrome has been investigated in a number of studies carried out on such children. Such children have been demonstrated to be at a greater risk of being affected by obesity compared to normal children even though on an average they consume smaller amounts of calories, such children also seem to have specific nutrient deficiencies in their daily diets compared to normal children when a comparison was made. These factors and circumstances have a direct bearing on the health of children afflicted with Down's syndrome and factors such as malabsorption of nutrients is thought to contribute to increased health risks from such diseases as cardiovascular and Alzheimer's disease. Insufficient digestive action in the stomach was observed in four down's syndrome patients according to a stool analysis done during a small preliminary study on the patients. According to the some researchers in this field, the poor absorption of nutrients in the stomach of patients afflicted with down's syndrome may be because of sensitivity to the substance called gluten, found in abundance in wheat and other grains, this factor causes malabsoprtion of essential nutrients in the individual according to these researchers. A link between the condition of Down's syndrome and celiac disease has also been suggested by many recent studies carried out to probe this possibility. During celiac disease, malabsorption and diarrhea develops in the patients because of antibody damage sustained by the intestines, these antibodies are produced by the patient's own immune system as it reacts to gliadin, which is a protein from wheat gluten and some other grains that are normally consumed as food by the patient. Dietary gluten is eliminated as a treatment method from the diets of patients afflicted with celiac disease. Compared with the general and normal population as a whole, Down's syndrome patients are affected by a prevalence of celiac disease, ranging from between 3.9% and 16.9%, this is more than a 100 times the normal prevalence of the disease in the general population and thus a connection can thus be suggested between the presence of Down's syndrome and the occurrence of celiac disease in an individual. This is further borne out by the fact that even in those Down's syndrome patients in whom no severe manifestation of celiac disease occurs, there still seems to be elevated levels of the antibodies to the protein gliadin. Down's syndrome patients have also been found to posses elevated levels of antibodies to proteins found in eggs and other dairy products in a study conducted on a group of such individuals. Therefore the possibility of sensitivities to gluten as occurs during celiac disease and/ or the presence of other food sensitivities should always be evaluated in all patient afflicted with Down's syndrome to check the disorders before they assume serious proportions.

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It is suggested that the mere presence of the condition is not essentially responsible for obesity in children with Down's syndrome, this is borne out by the fact that a comparison study found children with Down's syndrome were likely to be involved in less physical activity than other children-thus as far as it is known, the genetic condition itself is not a factor in the development of obesity in the child, while in adults with Down's syndrome, even when dietary habits and levels of physical activity were discounted, obesity in all such individuals was found to be dependant on the presence or absence of an active social life and healthy social connections-thus adult down's syndrome patients were more prone to be obese when compared with normal individuals depending on the level of social interactions they had, if those interactions were negative or absent, such individuals tended to be obese. Another peculiar physical symptoms in all persons affected by Down's syndrome was a lowering of the muscle strength and a lowered bone mineral density-this was true for all patients with Down's syndrome when they were compared with normal people and other mentally retarded individuals otherwise unaffected by Down's syndrome. Researchers and caregivers therefore advise a lot of physical exercises as a holistic treatment for people with Down's syndrome, and they suggest these activities because of the findings and to promote general good health in otherwise inactive patients. Strength and endurance were found to increase positively in all individuals with Down's syndrome when intervention trials were done to measure the effect of exercise on such individuals, this is despite the fact that other studies have found that people with Down's syndrome may not necessarily benefit as much from exercising and other physical activities compared to normal people. The exercising ability and the physical capacity of individuals with Down's syndrome are further affected by associated cardiac effects caused by the syndrome; these include such conditions like the prolapse of the mitral valve. Because of the fact that individuals with Down's syndrome have a very high risk of developing Alzheimer's disease at a young age, the undertaking of physical exercise by such patients has been suggested as a preventive measure, because such activity tends to improve flow of the blood to the brain and generally affects overall health in a positive way. However, no scientific test has been conducted as yet that positively displays any potential or real benefit from exercises.

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Supplements and herbs

The use of highly potent multivitamin and mineral supplements during a double-blind study brought about significant improvements in the intellectual capacities of five children affected by Down's syndrome; thus the study concludes that such supplements may bring some improvement in the condition of children affected by Down's syndrome. However, no noticeable improvements were observed in following researches carried out to probe these results further, for example a larger double-blind trial done a similar group of children brought out no noticeable benefits from such a supplementation. Children with Down's syndrome also showed no great difference in intellectual abilities when a multivitamin and mineral supplementation was used along with placebo's in a controlled group, the placebo group gained as much as the group using multivitamins and minerals. And last of all, a through review of all the research done on these particular supplementation gives no compelling reason for the use of multivitamins or B vitamin supplements in people with Down's syndrome especially where improving intellectual function is concerned and most of all it established no potential benefits existed from such supplementation.

On careful examination of the blood profile of people with Down's syndrome and specifically the red blood cells, certain traits become apparent in these cells; in that such cells tend to show a tendency for deficient levels of the vitamin B12 or folic acid in the tissues. Other thorough examinations of the cells in Down's syndrome patients however, indicate normal or average levels of folic acid. Moreover one a single study done with comparison groups of Down's syndrome patients and normal individuals indicates a reduced level of vitamin B12 in the patients with Down's syndrome. And these results have yet to be analyzed and proved conclusively as intervention trials using either vitamin B12 or folic acid and their possible role in the condition have not been investigated until now.

Down's syndrome patients also have a greater tendency on the whole to develop other conditions such as Alzheimer's disease, cataracts and other autoimmune diseases, along with a general increase in the pace of aging when compared with normal people on average. Free radical action leading to the damage of vital tissues in the body characterizes these diseases in general; that is free radical action is what impacts the body during the various stages of these diseases. According to the anecdotal evidence, it is deduced that the particular genetic characteristic that Down's syndrome induces in a person leads to an increased demand for antioxidants and other nutrients necessary for the body to successfully ward off damage caused by free radicals-this deduction is further supported by blood and urine biochemistry tests that have borne out these genetic predisposition. The oxidative damage suffered by individuals afflicted with Down's syndrome was found to be preventable by supplementation with the vitamin E, in a preliminary study carried out on a group of patients afflicted with Down's syndrome and hence susceptible to this form of cellular damage from radical oxygen species. The situation becomes complex because when a comparison between healthy individuals and patients with Down's syndrome was carried out it was observed that the blood levels of the vitamin C and the vitamin E, which are two important antioxidant nutrients, did not considerably differ to a great extent. Therefore further research and investigations still have to be carried out on the role if any of vitamin E and other antioxidants in treating some of the oxidative damage associated with Down's syndrome.

While many researchers have found the levels of essential minerals like zinc and selenium to be low in the blood of patients afflicted with Down's syndrome-other researchers have found these antioxidant minerals selenium and zinc were present in normal levels in at least one study of people with Down's syndrome. This situation is further complicated by the fact, that still other studies show low levels of zinc in more than 60% of patients with Down's syndrome. Hence, the possible implications of supplementation with these minerals is still haze and requires further investigation, for example during a preliminary study where selenium supplementation was carried out on children with Down's syndrome, a marked improvement in the antioxidant activity within the body was discovered. Low levels of zinc along with very poor immune system function was found in a preliminary study conducted on a group of patients with Down's syndrome, this can perhaps be related to the fact that sufficient quantities of Zinc is critical for proper immune function and for the proper functioning of the immune system and the immune cell activity. Therefore it an improved immune cell activity and immune system functioning can be achieved through regular supplementation using zinc. Down's syndrome patients who were given zinc supplements during preliminary intervention trials, showed appreciable improvement in the immune cell activity along with reduced rates of infection, the dosage regimen was in amounts of 1 mg per 2.2 pounds of body weight a day during the trial period. However, these beneficial effects were not observed in children with Down's syndrome during supplementation in a controlled trial, these children were given zinc at 25 mg per day for the younger children under the age of 10 years and the dosage was 50 mg for older children; thus this study shows that this form of supplementation may not be suitable for the treatment of children. However, this is not to say that zinc supplementation must not be carried out at all in all cases. It is known that zinc performs other important roles within the human body. Indeed the preliminary data gathered from various sources shows that zinc supplementation, at the rate of 1 mg per 2.2 pounds of body weight a day during the treatment period, effected an improvement in the functioning of the thyroid gland in all patients with the Down's syndrome and in addition it also caused an increased growth rate in children suffering from the various symptoms associated with Down's syndrome.

The normal functioning of the nervous system is assured by the presence of acetyl-L-carnitine, a vital compound that occurs naturally in the brain and the nervous system. Visual memory and attention showed marked improvements in all Down's syndrome patients during a preliminary trial, where the test subjects were given 500 mg of L-acetyl-carnitine thrice a day during a testing regimen lasting a total of 90 days; clearly this substance has important functions in eliciting normalization of visual memory and in inducing marked improvements in nervous functioning. On carrying out the same treatment regimen in patients with obvious deficient mental faculties unrelated to Down's syndrome and in untreated subjects on a placebo, significant results were not obtained. As far as people afflicted with Down's syndrome are concerned a lot of careful research into the effects of L- acetyl-carnitine is necessary and will prove itself beneficial in the long term.

Mood and sleep timings are affected in the human body through a substance called 5-hydroxytryptophan (5-HTP); this substance is an amino acid that the body uses to manufacture the neurotransmitter serotonin. The body manufactures this 5-HTP from the amino acid tryptophan; this amino acid precursor is found in the food proteins consumed in the daily diet. Children suffering from Down's syndrome have been shown to have low levels of serotonin as far as the early data on this aspect of their physiology is concerned, in addition to this factor the supplementation of 5-HTP in young children showed observable improvements in the muscle tone and a reduction in the protrusion of the tongue as a direct result of the supplementation. Moreover further symptoms such as restlessness, diarrhea and vomiting, and muscle spasms, including the elevation of blood pressure were observed during supplementation with 5-HTP in patients afflicted with Down's syndrome. Infants who underwent 5-HTP supplementation during one study showed seizures as a further side effect of the supplementation as a further complication. The beneficial effects of supplementation using 5-HTP have been shown by other studies to be mostly non-existent. Taking all these studies into account and because of the high incidence of other complications including adverse side effects the use of 5-HTP in infants and children with Down's syndrome is not recommended at this time- this substance also has no proven beneficial effects.

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