October 19, 2015


Nutritional Intervention: talking about health + Down syndrome with Gabi Giacomin

Today, Gabi Giacomin gives us a rundown on why people with Down syndrome benefit from nutritional intervention (think vitamins and supplements). Due to the presence of the third copy of Chromosome 21 in all cells within people with Trisomy 21 and the impact this has on the physiological systems throughout their bodies, it’s not viable to compare their nutritional requirements to those of typical children. We need to look at how we can support their unique biological needs in the best way. This is the third post in our series of four Monday Health Talks with Gabi. If you’d like to read the first post on Optimum Diet, you can click here and the second post about Complementary and Alternative Medicines & Therapies is here

Health Talk

It is well documented in the literature that nutritional intervention decreases risk and delays conditions associated with Down syndrome (DS) from developing, improving quality of life.

Children with DS differ from the typical population in many ways nutritionally. The multi-vitamin and trace metal deficiencies they experience are long term. One reason people with DS experience nutrient deficiencies is from improper absorption in the gut. It is necessary for children with DS to be tested for nutritional deficiencies and commence allergy-free diets with relevant supplementation as early as possible to allow maximum development.

20151003_161314Why supplement?

Levels of fat soluble Vitamins such as A and E are lower than average in children with DS possibly due to malabsorption. Conjunctival alterations in the eyes of patients with DS are due to altered Vitamin A metabolism. Supplementation with Vitamin A can reduce incidence of infection and improve plasma Vitamin A levels.

Vitamin B1 deficiency in children with DS exists at higher rates than in the typical population. Children with DS tend to consume Vitamin B1 below the recommended Recommended Daily Allowance (RDA). VitaminB6 metabolism is abnormal in people with DS. Supplementation of small amounts of Vitamin B6 in those with DS helped normalise brain function by reducing elevated cortical auditory evoked potential to normal. Vitamin B12 is reported to be low in people with DS in some studies.

Vitamin C deficiency is high among children with DS, is associated with dietary intake and linked to a higher incidence of infection. Poor dietary intake of Vitamin D also exists in people with DS and low levels exist despite high exposure to sunlight.

Vitamin E levels are low in children with DS due to malabsorption. Patients with DS related dementia have lower levels of vitamin E than those without dementia. Vitamin E has a protective role in the body, slowing down the onset of Alzheimer’s. Vitamin E protects the body from chromosomal damage in lymphocytes, suggesting that its antioxidant benefits may also improve the efficiency of DNA.

Individuals with DS have below normal levels of Folate, which increases with age. Erythrocyte macrocytosis (large red blood cells) is more common in children with DS due to alterations in the methylation cycle. Low homocyteine levels and a high risk of folate trapping can be avoided through intervention with Folinic acid. This form of folate is more efficiently absorbed and available for folate dependent reactions.

Calcium metabolism is abnormal in DS. While dietary consumption of calcium appears to be high, intracellular and hair levels of calcium are decreased. Iron levels are reported to be significantly lower in DS than in controls and dietary consumption of iron is also low in this population. Magnesium and Manganese levels were lower in erythrocytes (red blood cells) and thrombocytes (platelets) in children with DS.

Plasma Selenium levels are significantly lower in DS than the typical population. Selenium supplementation optimises antioxidant protection by increasing GSHPx (glutathione) levels in the DS population.

Retention of Zinc in DS is around 30% compared with 58% in typical adults. Zinc deficiency is associated with hypothyroidism and supplementation improves thyroid function in people with DS.

Plasma total and free Carnitine levels were significantly lower in the DS population compared to typical children of the same age. Carnitine supplementation for people with DS has many benefits including improvements in metabolism of fats and conduction of nerve cells, improved muscle tone and reduced oxidative damage to cells. Statistically significant improvements of attention and visual memory were noted in children with DS treated with L-acetyl Carnitine supplementation. Serine is deficient in the plasma of people with DS.

Nutritional deficiencies in people with DS result from biochemical imbalances in their physiology. It is clearly demonstrated in the literature that a targeted approach to Nutritional Intervention is required.

IMG-20150711-WA0000Targeted Nutritional Intervention

The aim of Targeted Nutritional Intervention in DS is to manipulate the over expression of genes by blocking their transcription – the first step of gene expression where a segment of DNA is copied into RNA.

An example is the over-expression of the enzyme SOD1, which places people with DS under more oxidative stress as a result of increased levels of free radicals in organs, particularly the brain. ROS (reactive oxygen species) are associated with premature ageing in DS, and supplementing with specific antioxidants such as A,C and E becomes imperative if the cell is to function successfully in a oxygen rich environment.

In addition, supplementation with Selenium and Vitamin D3 up regulates glutathione peroxidase, which detoxifies hydrogen peroxide – a byproduct of high SOD1 expression, to balance the antioxidant system.

Alpha-ketoglutarate, bioflavonoids, vitamin C and proline manipulate the COLVIa gene strengthening connective tissue and formation of cartilage and bone, and improving muscle tone in DS.

Overexpression of the CBS gene leads to chronic folate deficiency resulting in poor growth, impaired adrenal sufficiency, poor purine synthesis, poor cognition and, in rare cases, Leukaemia. Supplementation with methylfolate, folinic acid, Vitamin B6 and B12 solve the problem of folate trapping caused by over expression of the CBS gene.

RCAN1 is over expressed in DS and interferes with normal brain development. The bioflavonoid Quercetin is used as an inhibitor to down regulate its function. Quercetin also down regulates DYRK1 expression, along with EGCg (epigallocatechin-3-gallate) to enhance cognitive ability in DS.

Nutrigenomists recognise that people with genotype disorders have different nutritional needs to those of the typical population. Targeted Nutritional Intervention to match an individual’s genetics is the most effective way to prevent chronic disease.

Significant scientific evidence exists to support the use of nutritional supplements in people with Down syndrome. However, it’s important to consult a healthcare professional, such as a Doctor or Naturopath with knowledge and experience of the unique physiology of a person with Down Syndrome, before starting supplementation.

Gabi Giacomin is a Naturopath (MClP (Comp Med) BHSc (Comp Med)), wife and mother of two beautiful girls, including one with Down syndrome, and she is passionate about helping people achieve optimum health. After taking time off to focus on motherhood, Gabi is returning to private practice in the Northern Rivers area in 2016. If you’d like to ask her any questions or go on a waiting list for a consultation, Gabi can be contacted by email or please leave a comment below.


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