Supplementation for Down Syndrome and Genetic Conditions

Down Syndrome occurs in approximately 1 in 800 pregnancies as a result of an extra chromosome 21 being transferred to the offspring. The only established risk factor is advanced maternal age. Down syndrome is commonly associated with varying degrees of mental retardation. Many different nutrient and CAM therapies have been purposed to improve cognitive function and developmental outcomes. According to the scientific literature between 50-70% of families of children with Down syndrome report using CAM nutritional therapies mainly to improve cognitive function. Families are probably motivated to utilize CAM nutritional therapies because they feel they are relatively safe, may offer some benefit, and due to lack of conventional medicine therapies. The following is a brief summary of a few of these purposed CAM therapies.

•  In the mid 1990's, piracetam (a pyschoactive drug) was advertised on television commericals and reported on by "Nightline" as having positive benefits for delaying Alzheimer's Disease and improving cognitive function in children with Down syndrome. The American College of Medical Genetics issued a strong statement in 1996 concluding that no evidence exists to support this claim.

• Children with Down syndrome have decreased levels of a copper/zinc dismutase. For this reason many CAM therapies began being devised to supplement this deficiency by giving children antioxidant supplements, in the hope it would improve cognitive function in children with Down syndrome. Dr. Bruce Buehler of the University of Nebraska Medical Center Munroe-Meyer Institute for Genetics and Rehabilitation published a review article in American Journal of Medical Genetics in 2006 on this topic. He stated, "For children with Down syndrome, a single child's multivitamin contains sufficient antioxidants to replace any dietary deficiencies when taken in conjunction with a healthy diet".

• This study published by Jill M. Ellis, et al. in the British Medical Journal in February 2009 found no evidence that folic acid supplements improve developmental outcomes in children with Down syndrome. The hypothesis suggests that dysfunction of two enzymatic pathways located on chromosome 21 (cystathionine b-synthase and copper/zinc dismutase) may contribute to learning disabilities seen in children with Down syndrome. This hypothesis is based on the following mechanism:

• Increased copper/zinc superoxide dismutase activity alters the cellular anxtioxidant protective pathways in children with Down syndrome. This may then lead to increased oxidative stress within the neuronal cells and may contribute to learning disabilities seen in children with Down's syndrome.

 

• Cystathionine b-synthase combines homocysteine and serine to make cystathionine, leading to decreased amounts of other folate derived proteins (S-adenosylhomocysteine, S--adenosylmethionine, homocysteine, and methionine). Since folate derived proteins are critical to many cellualr anabolic functions, it  has been suggested that this alteration in folate metabolism may also contribute learning disabilities in Trisomy 21.

The authors enrolled 156 infants into a double-blinded randomized controlled trial divided into four groups: control, folate only, antioxidants only (selenium, zinc, Vitamin A, Vitmain E, and Vitamin C), and folate + antioxidants. There primary outcomes assessed by monitoring developmental milestones (assessed by the Griffiths mental development quotient) and measurement of the copper/zinc superoxide dismutase and glutathione peroxidase enzyme activity.

The authors found no significant difference between any of the groups on either of the primary outcomes (developmental milestones or enzyme activity). They did notice that the antioxidants were not well-tolerated due to GI complaints (vomitting). The authors followed the Daily Recommended Allowances and suggested that larger doses of supplementation might have had a different result.

CAM nutritional therapies that have been purposed for other Genetic Conditions

• Melatonin- has an effect on the sleep-cycle and is used to treat some medical conditions (Smith-Magenis). Proponents of CAM therapies have also began using melatonin to treat ADHD. The theory being that hyperactivity seen in ADHD may be due to inadequate sleep. However, melatonin may cause seizures.

• Kava and Valerian- have been purposed as treatments for ADHD due to there sedative effects. However, Kava may cause liver disease and valerian may be addictive

• Fish Oil- is believed to have some effect on improving learning disabilities.

• Coenzyme Q10- is believed to help with mitochondrial conditions

Conclusion:

There is no evidence to support the use of  CAM nutritional therapies to treat cognitive function or prevent Alzheimer's Disease in children with Down syndrome. There is also limited evidence for other CAM therapies like melatonin for ADHD, fish oil for learning disabilities, or coenzymeQ10 for mitochondrial conditions. In fact many CAM therapies may actually cause adeverse reactions (eg. melatonin in ADHD).