Downs-Syndrome-Downs-Syndrome-Update

Down's Syndrome Update

In reviewing the literature on Down Syndrome it is safe to say that there is general agreement as to the causes and many of the effects of Down Syndrome. This simple statement will prove to be vital by the end of this monologue. It is not all that frequent for there to be such general agreement as to the true causes of any illness.
All of the symptoms and problems associated with Down Syndrome are secondary to a genetic defect concerning chromosome 21. This chromosome has an extra copy of itself (and so Trisomy 21) and therefore has an overabundance of specific genetic material which ultimately leads to the physical and mental problems associated with Down Syndrome.

Specifically what happens is as follows:
The defect causes the overproduction of the enzyme Superoxide Dismutase (SOD). SOD then directly converts the free radical Superoxide into Hydrogen Peroxide (H2O2) The amount of hydrogen peroxide produced is in excess of "normal" amounts and quickly uses up the enzymes, glutathione peroxidase and catalase, which are intended to deal with the peroxide. The body cannot deal with the buildup of hydrogen peroxide. This excess causes cell damage and apoptosis (cell death). The elevated hydrogen peroxide also combines with iron to increase the production of the extremely damaging hydroxyl (OH-) radical (Yankner) (Odetti, et al).

According to Badwey, the hydroxyl radical is the most noxious of the free radical species. Damage to biologically important macromolecules (proteins, DNA, RNA, cell membranes) results due to the body’s inability to prevent these oxidative interactions. This pathology can and does effect other chromosomes. Allowed to continue this will lead to Alzheimer-like dementia by the third or fourth decade of life (deHaar).

The glutathione deficiency from the overproduction of peroxide and the overabundance of cystathionine beta synthase (another enzyme), caused by another Trisomy 21 gene, causes a serine deficiency and a homocysteine increase which lead to vascular damage and DNA and RNA damage. Homocysteine causes the production of additional free radicals which then damage the endothelial linings of the vascular system.

Chromosome 21 also has a gene for collagen. Having an extra chromosome 21 causes problems such as heart defects, joint laxity, abnormal short stature, abnormal fingerprints, small head, flat nasal bridge, large tongue, small ears, abnormal folds of skin in the corner of the eyes and a short, fleshy neck, all common to Down Syndrome.

Other problems frequently encountered are: decreased muscle tone, hypothyroidism, immune dysfunction, lactose intolerance, maldigestion or malabsorption and celiac disease.

What Can Be Done?...More Than You Think!
It sounds like a daunting problem. If left untreated Down Syndrome will progress and continue to cause physical damage, premature aging, Alzheimer-like dementia and premature death. Much of this injury as well as the mental retardation can be prevented! The retardation is not present at birth. It develops as the molecular injury occurs unchecked. "There may exist a window of opportunity wherein a specific intervention (e.g., judicious uses of antioxidants) might avert the neuronal degeneration previously assumed to be unavoidable." (Becker et al)
Immediately upon making the diagnosis of Trisomy 21, a program including the following needs to be implemented:

Laboratory Testing
As no two patients are alike, nor have all of the same deficiencies, testing needs to be done to determine exactly what deficiencies and other conditions exist and need treatment.
Amino Acid Analysis - Done to pinpoint the deficiencies
Heavy Metal Challenge - To see if these neurotoxic metals are also present in toxic levels
Mineral Levels - Again, to pinpoint specific deficiencies
Thyroid Function - Is there hypothyroidism?
Pancreatic Function - Looking for maldigestion
Gastric Analysis - Checking for malabsorption and maldigestion related to hydrochloric acid production
Essential Fatty Acid Analysis - To look for deficiencies common to DS
Allergic Evaluation - Are allergies contributing to the symptoms?
Celiac Evaluation- Celiac disease is a frequent problem
Vitamin Levels- To provide only what is needed on an individualized basis
Lactose Intolerance- Checking for another common problem
IgF-1 Levels - Looking for levels of growth hormone deficiency seen in DS

Individualized Treatment
Again, and foremost, each patient must be looked at individually. Their needs are different as are their responses to treatment. With that in mind, here are some of the modalities utilized at The Edelson Center:

Antioxidant Therapies
These are used to quench the free radicals and thereby protect cells and prevent further damage (Whittaker). Vitamins and minerals will not satisfy the need for antioxidants. Depending upon the patient, we utilize Melatonin, an extremely safe antioxidant that scavenges the OH- radical and several others, DMSO, a chemical that also targets the OH- radical and has been shown to have other beneficial effects (Jacob), or Amrit Kalash, an herbal antioxidant that is safe and effective (it is 1,000 times more powerful than vitamins in its antioxidant properties).

Melatonin metabolizes the hydrogen peroxide by stimulating the production of glutathione peroxidase and glutathione reductase. Dr. Russell Reiter, a world renowned expert on Melatonin, and Dr. Edelson have consulted on its use in Autistic Spectrum Disorders and Down Syndrome. Since free radical pathology is involved in both of these processes, and as Melatonin is one of the best hydroxyl radical (again, the worst of the free radicals) scavengers they feel that the use of Melatonin is quite appropriate. DMSO also has positive effects on nutrient uptake and thereby aids in getting vital nutrients to the cells that need them to make repairs, and it also neutralizes the cytotoxic (cell killing) effects of free radicals in the cells.

Melatonin has the additional effect of aiding the immune system to work better. Downs patients have been shown to have increased susceptibility to infections and a 20-50 fold increase in the incidence of leukemia (deHaar). These problems are again due to the damage free radicals do to the immune system and to the cellular DNA. Therefore, significant benefit may be derived from improved free radical quenching.