The Way Up From Down's Syndrome

Patrick Holford Chapter 29 Optimum Nutrition for the Mind

Reproduced with the kind permission of Patrick Holford from his book Optimum Nutrition for the Mind, Piatkus ISBN 0 7499 2398 9. Please visit www.mentalhealthproject.com to order copies of the book or for further information and consultation bookings.

Many of the antenatal tests offered to pregnant women are investigating whether the baby has Down's syndrome. The condition causes so much concern in prospective parents that, in the UK, at least 90 per cent of pregnancies with a Down's baby are terminated.

The typical description of the syndrome makes bleak reading. Though many people born with Down's live for 40 to 60 years, that is still at least 15 years short of the UK average of about 75. About four in ten will have heart problems, and half of them will require surgery. Thyroid problems are also common. They have developmental delays in walking, saying their first words and so forth, and they have learning disabilities. On top of that they have an increased risk of Alzheimer's disease, starting as early as the age of 30. They often have difficulties in seeing and hearing. They also have a number of minor problems including dry skin, and more coughs and colds.

A person with Down's syndrome is born with 47 chromosomes instead of the normal 46. Chromosomes carry the genetic information that makes us who we are. In most people, 23 of them come from each parent. People with Down's have an extra 21st chromosome (or part of it) from either parent. Each chromosome contains the information to make a particular set of proteins. The extra chromosome leads to the overproduction of the proteins coded for on chromosome 21. The syndrome is clearly genetic. But just because a condition has its roots in genetics does not mean the condition cannot be treated by changing the chemical environment in which the genes bathe. In the vast majority of cases, something can be done to prevent, stop or even reserve a genetic disorder by changing the environment in which the gene operates. This means finding out what is optimum nutrition for the condition: there is a way up for Down's.

Megavitamin Therapy

Treating Down's through nutrition all began with Dr Henry Turkel's pioneering work in Michigan in the 1930s, using treatments including large amounts of antioxidants (to protect against damage caused by highly reactive oxidants - see Chapter 8), enzymes and other nutrients. By the 1960s he was getting remarkable results with severely retarded children, as the case of Wendy testifies.

Wendy was four years old but her mental age was 21 months. She achieved an IQ of 44 and was classified as retarded. When she began megavitamin therapy her attention span went from 10 seconds to 15 seconds to 10 minutes. Within three months she began speaking in complete sentences. After six months of treatment her IQ score had jumped to 72. By the age of eight her IQ score was 85, classifying her as no longer retarded, with low-average ability - a 40-point shift in four years.

Wendy's remarkable transformation, which led to her no longer being classified as educationally subnormal, was verified by an independent psychologist. When researcher Dr Ruth Harrell heard of Turkel's amazing results, she decided to explore the ideas that many mentally retarded children might have been born with increased needs for certain vitamins and minerals. In her first study she took 22 mentally retarded children and divided them into two groups. One received vitamin and mineral supplements, while the other received placebos. After four months, the IQ in the group taking the supplements had increased by between 5 and 9.6 points, while those on placebos showed no change. For the next four months, both groups of children were given the supplements and the average improvement rose to 10.2 points. Of those children with Down's taking the supplements, three of the four gained between 10 and 25 units in IQ and also underwent positive facial and skeletal changes!

The results seemed too good to be true. After all, Down's syndrome is a genetic disease, so how could vitamin supplements increase the intelligence of six of the children so dramatically? This sort of improvement in intelligence would put most of our educationally subnormal children back in mainstream education! These findings have since been confirmed by three researchers - and contradicted by three more.

Why the apparent contradiction? Researcher Dr Alex Schauss believes he may have found the confounding variable: it appears that only those children taking thyroid treatment, commonly needed by those with Down's, plus the supplements, improved. Neither supplements nor thyroid treatment on their own are expected to help improve intelligence in children with Down's syndrome. Also, you need the right kind of supplements, and this is likely to vary from child to child.

Pinning Down the Right Nutrients

The Trisomy 21 Research Foundation was founded to do just that - research and identify what optimum nutrition was for Down's. ('Trisomy 21' is another name for Down's syndrome.) Their approach does not involve large quantities of individual nutrients but rather targets nutrients to deal with the particular biochemical difficulties that people with Down's have.

A popular misconception is that Down's babies are born with abnormal brains. However, at birth their brain appears to be normal. Within the first four to six months most of the damage that might be done to the brain is done. Nutritional therapy can help prevent the damage. Much is now known about what the effect of the extra chromosome is. One of the biggest problems is that it leads to overproduction of a key enzyme known as Superoxide dimutase (SOD).

SOD is a critical part of a chain of enzyme reactions that protects us from oxidants, so extra SOD may seem an advantage. But it isn't, because it's only part of the oxidant hit squad. Its role is to produce hydrogen peroxide (H₂O₂), a dangerous substance that is usually then disarmed by the next two enzymes in the pathway. However, these two enzymes are not found on chromosome 21. So only part of the hydrogen peroxide produced in Down's people is disarmed. The rest begins to damage the brain and body.

It now appears that the extent of that damage can be reduced by an optimal intake of nutrients that help to disarm the hydrogen peroxide and boost the body's antioxidant defences. There are a number of nutrients that will assist, including the protective antioxidants of vitamins C and E, lipoic acid, selenium and bioflavanoids. Essential fats are also important since these are destroyed by oxidation.

Problems with SAMe and Tryptophan

Another problem caused by Down's is the disruption of a key brain chemical pathway involving the amino acid s-adenosyl methionine (SAMe). This causes a number of biochemical problems including the conversion of folic acid, which is vital to brain and nerve function, into an unusable form. This difficulty can be minimised by providing extra folic acid and vitamins B6 and B12. One investigation showed that it is possible to correct SAMe-related problems in Down's cells in a test tube by using chemical variants of folic acid and vitamin B12. Many parents have reported improvements after supplementation with methyl donors (DMAE, choline, DMG and TMG) and methylation catalysts (folic acid, B6 and B12). SAMe itself has also been used to treat children with attention-deficit disorders, as has MSM, a highly absorbable form of sulphur, an essential mineral that is needed by the body to make SAMe. These are explained in Chapter 7.

Down's people also suffer from the overproduction of collagen, disruptions of their hormones, deficiency in key growth factors, accumulation of toxic ammonia, and deficiency in the amino acid tryptophan (needed for the production of the key neurotransmitter serotonin). These problems are addressed by a large variety of nutrients in the NuTriVene formula recommended by the Trisomy 21 Research Foundation, which contains not only vitamins and minerals but also specific amino acids and some other nutrients.

Dr Lawrence Leichtman, a geneticist and pediatrician, is founder member of the American College of Medical Genetics and a member of the Scientific Advisory Committee of the Trisomy 21 Research Foundation. To date he has treated over 700 patients at his Genetics and Disabilities Diagnostic Care Centre in Virginia Beach, Virginia. In a trial observing Down's children for three years. 113 of whom (aged 1 month to 12 years) were using the NuTriVene-D formula, and 32 of whom (aged 4 months to 12 years) were on multivitamins, both groups showed benefit, but those on NuTriVene-D had the best improvements. Their growth rate went up. They had fewer infections and their white blood cell counts and levels of immunogloblin A, which are an indication of immune strength, improved. There were also clear improvements in speech, coordination and learning abilities. Madison, daughter of Dixie Lawrence, director of an adoption agency in Louisiana, is a case in point.

Madison was given the TNI formula [a specific supplement programme] and, at around 33 months old, was started on Piracetam with choline and vitamin B5. Five days later she potty trained herself. On the fifth or Sixth day she started saying the odd word and this soon developed into brief sentences. She developed an imagination, unheard of in Down's children of that age. She plays ball with a strong and accurate arm.

To date, the results are promising, but proper double-blind trials testing this formula have yet to be carried out. One such trial, giving 19 children large amounts of vitamins and minerals over three months, did not find any benefit.

Piracetam and Choline

Piracetam is not part of the NuTriVene-D formula, but many parents give their Down's children both, sometimes together with choline. Piracetam is an intelligence booster and general stimulant (see Chapter 37). Its effects and safety are so impressive that it prompted the creation of a new category of pharmaceuticals called 'nootropics', designed to boost intelligence.

There has been considerable media interest, not all positive, in the use of piracetam in Down's children in the US. One double-blind study giving Down's children piracetam or a placebo, carried out by Nancy Lobaugh and colleagues of Sunnybook and Women's College Health Centre of the University of Toronto, claimed that piracetam therapy did not enhance cognition or behaviour but was associated with adverse effects.

The study has, however, been criticised, not for its design but for the interpretation of the results. Dr Stephen Black of Bishop's University, Quebec, states that a number of positive effects were overlooked. Of 72 outcomes measured, including attention, memory perceptual abilities, executive function and fine motor skills, 46 produced results that were better in those on piracetam compared with those on the placebo. Eleven out of 18 parents reported that they had noticed cognitive improvement in children taking piracetam, compared to two out of 18 parents of children taking the placebo, despite being unaware whether their child had been on piracetam when then they made their comment. Teachers also reported that children had significantly 'fewer total problems' when taking piracetam. The well-publicised negative effects were apparently spontaneous comments by the parents rather than questionnaire responses. Black suggests that there has been bias in the reporting of the study, and concluded, 'A more justifiable conclusion would have been that while dramatic effects were not observed, and there were adverse effects with certain children, small gains in cognition and behaviour were also evident.'

Getting Help With Optimum Nutrition

There are currently two multinutrient supplements specifically designed for those with Down's on the market: NuTriVene-D and MSB Plus Version 4 (see 'Products and Supplements Directory' on page 370). Both products are very similar, differing mainly in dosage size. They include a daily supplement, a daily enzyme and a night-time formula. The daily supplement consists of vitamins, minerals, amino acids and other essential nutrients. The digestive enzyme compensates for deficiencies in Down's children and their associated malabsorption problems. The night-time formula is designed to provide essential nutrients for increased growth (night time is the main period of growth for a child) and to ease common sleep disorders found in Down's children. It is also possible to have a custom-made version based on blood and urine analysis of the patient.

Any supplement programme for the treatment of Down's must be undertaken with professional guidance, monitoring and support, and must be followed alongside a healthy diet. Do not compile your own programme using over-the-counter vitamin and mineral supplements because certain nutrients can accelerate the degeneration process and these are often included in general multivitamin and mineral supplements. To find help in the UK, contact the Down's Syndrome Research Foundation. In the US, contact the Trisomy 21 Research Foundation (see 'Useful Addresses, page 362).

In summary, the aim of optimum nutrition is to give a person with Down's syndrome the best possible biochemical support, given their genetic uniqueness. This needs to be done with professional guidance. As one mystic says, Down's syndrome children are those who have given so much, who have served so completely in a previous life, that they come back in this life to be looked after. Who knows if this is true, but like the rest of us, they too deserve optimum nutrition.