3.21 Three two one  
3.21 A newsletter that examines the medical aspects of Down syndrome
Vol. 1, No. 3, June 1998
  Reprinted with the permission of Karalee Wetzel

On the last issue, the "Number" was incorrectly listed as "1" and it should have read "2". Some issues were corrected; others were not.

Address Change
My family and I are making the big move June 19th. Our new address will be 675 35th St., Des Moines, IA 50312. The new phone number will be 515-274-0826. New email address soon.

This Issue
Obesity/Metabolism, Aluminum Absorption and Copper Increases.

Next Issue
Growth Hormone, 5 Hydroxy -Tryptophan, and other treatments previously tried with DS.

Suggestions Appreciated
If any of you have an idea for information you would like to see in 3.21, please mail me a post card or email me. I try to stick with subjects I understand well enough to explain to others, so no promises. For example, cardiology problems will be avoided until I take anatomy this fall. One parent asked about Growth Hormone, and I have done some reading on it, so it will be in the next issue.

Autism and Down syndrome
In April, my daughter Jen was diagnosed with autism. I had suspected something other than DS was going on before 18 months, and suspected autism since about age 2. It was still a blow to get the second diagnosis. We re-asked all those unanswerable questions about what her future and quality of life (and our quality of life) would be.
Jen is not alone in the world of Down syndrome. I have read that as many as 10% of those with DS have autism/pdd, too . As I become more informed about the disease and the dual-diagnosis, expect a future issue to focus on it. Until then, I can recommend the books "Let Me Hear Your Voice" and "Autism Treatment Guide" as great resources.

Circle of Friends Book

A book about Targeted Nutrition has been written by Deb Saxton and Gini Mullaly. It has over 350 pages of text, along with some photos of children with DS.
To order the book, call International Nutrition at 1-800-899-3413. The cost is $15.75, but a donation above the price is appreciated. Any amount over the price will go to research, or to supply books to parents who cannot afford the donation amount. You get to specify which you prefer.

Obesity in DS
My first knowledge the stereotype that all people with DS are obese came from a nutritionist. Jen was 9 months old. Her dad and I were excited to get an appointment in the "Down syndrome clinic" an area hospital held monthly. These professionals, we thought, were experts and would give us great advice.
After Jen was measured and weighed, we were informed that, according to the standardized DS scales, Jen was heavier than tall. Since we were "all aware" of the obesity problem facing people with DS, we were advised by a licensed nutritionist to dilute Jen's infant formula with water, to restrict her intake to 16-18 oz/day of formula, and to feed her only lower-fat baby food.
Obviously, this professional was more concerned with a 9-month old's chubby legs than her brain development. (Some may have heard the latest health recommendation to not give children one year or younger water; they need liquid that has nutrition.) The nutritionist was also unimpressed with my argument that since Jen was near normal in motor skills, maybe she had more muscle than other babies with DS.
My pediatrician was outraged when he read the recommendations (yes, it was put in writing). We did not implement those suggestions.
The very positive result of this, however, was I realized that I was the expert about my child (no small event).
So, what is the truth in this all? Are people with DS fat? Inactive? Bad at nutritional choices or genetically geared to store fat? Like usual, there is theory but no clear answers. The problems with obesity are two fold. There are the health problems associated with it like diabetes, heart disease, and others. Then there are the image problems. Our society has enough problems with obesity or DS alone; mix the two and the battle for acceptance is that much harder.

People with DS tend to be short. They tend to be much shorter than normal. A Dutch study measured 295 healthy children age 0-20 who had DS and compared them to normal Dutch children. While the Dutch children are taller than US children, those with DS are two standard deviations shorter than their normal Dutch counterparts (Cremers et al, 1996). Two standard deviations is a big difference.
Children with DS have growth spurts at a younger age than normal (Arnell et al, 1996). They also tend to have an incomplete pubertal development. Those two problems may well be connected.

Results vary as to the percentages of overweight or obese within the DS population, but the news is not good.
One study looked at 201 adults with DS. For males, 31% were overweight and 48% were obese. For females, 22% were overweight and 47% obese. Overweight and obesity were associated with living at home compared to those in assisted living arrangements. There was no association with degree of disability, so those severely affected we no more obese than those mildly affected (Prasher, 1995).
Another study found 70.58% of males and 95.83% of females with DS were obese or overweight. The percentage for those with other mental handicaps was 49.29% for males and 62.96% for females. Compare that to 40% of males and 32% of females in the normal population (Bell and Bhate, 1992).

The stereotype of those with DS is that they are calm, loveable people. Unfortunately, one small study seemed to support the calm part of the stereotype. It looked at 30 children with DS and a healthy sibling. Those with DS were significantly less active and spent more time indoors than their counterpart (Sharav and Bowman, 1992). Another small study, however, found no difference in caloric use in physical activity + calories used in digesting food or the "non-resting metabolic rate" (Luke et al, 1994).

A look at 3-day diets of 10 children with DS showed that the children with DS had less caloric intake than their normal counterparts. In addition, nutrient intake was often below RDA, which often happens when food intake is low (Luke et al, 1996).
So the weight problem is not caused by too much food. Inactivity could contribution to the problem., but is there another?

You know the irritating people who can eat anything, never exercise and stay skinny. While many of us assume they do it just to spite the rest of us, it is really lucky genes and a fast metabolism. Few will envy people with DS for their metabolism speed.
One study looked at resting metabolic rate in adults with DS and compared the results to those without. Adults with DS had kilocalories (most of us just call them calories) requirements of 1333.5, compared to 1670.1 for normals. That is a difference of 20.8% (Allison et al, 1995).
In another study by Luke (1994), children with DS were also found to have lower resting metabolic rates than normal. However, they had a difficult time keeping the children still long enough to get accurate numbers. It looks like their metabolism is just slower than normal.

Why metabolism and energy problems?
One explanation is obviously thyroid problem. Hypothyroid (too low) is a big health concern for the DS population, and can slow down metabolism. However, there are not enough people with DS who also have thyroid problems to explain the high rates of weight problems. It is possible that those with DS have a higher requirement for thyroid and the medical goal is to get them in the "normal" blood level. Maybe they have a different normal.
Another explanation is an enzyme problem in the mitochondria. The mitochondria is the "furnace" in the cell that converts calories and oxygen into energy. There is a group of enzymes, a complex, that the oxygen flows through. One study found a 2/3 reduction of normal activity in the enzymes monoamine oxidase, cytochrome oxidase and isocitrate dehydrogenase which are part of that complex. It was explained to me that a reduction like that may make the cells "slower burners" than normal (Prince et al, 1994) and may slow down metabolic rates.

Since nutrients often decrease with a caloric decrease, a strict diet probably is not the solution. Watching fat intake may help.
Obviously, aerobic exercise will help to keep metabolic rates up. In addition, even though I have not seen this recommendation, weight lifting for adolescents or adults could help with the weight management issues.
Finally, keep checking those thyroid levels.
Like usual, lots of problems, few sloutions.

     Allison, D. et al. (1995) Decreased metabolic rate among persons with Down Syndrome. Int-J-Obes-Relat-Metab-Disord. 19 (12) 858-61.
     Arnell, H. et al. (1996) Growth and pubertal development in Down syndrome. Acta-Paediatra.85(9),1102-6.
     Bell, A. & Bhate, M. (1992) Prevalence of overweight and obesity in Down's syndrome and other mentally handicapped adults living in the community. J-Intellect-Disabil-Res. 36(pt 4) 359-64.
     Cremers,M. et al. (1996) Growth curves of Dutch children with Down's syndrome. J-Intellect-Disabil-Res. 40 (pt 5), 412-20.
     Luke, A. et al. (1994) Energy expenditure in children with Down syndrome. J-Pediatr. 125(5 pt 1) 829-38.
     Luke, A. et al. (1996) Nutrient intake and obesity in prepubescent children with Down syndrome. J-Am-Diet-Assoc. 96(12), 1262-7.
     Prasher, V. (1995) Overweight and obesity anong Down's syndrome adults. J-Intellect-Disabil-Res. 39 (pt 5) 437-41.
     Prince, J. et al. (1994) Mitochondrial enzyme deficiencies in Down's syndrome. J-Neurl-Transm-Park-Dis-Dement-Sect. 8(3) 171-81.
     Sharav, T. & Bowman, T. (1992) Dietary practices, physical activity and body-mass index in a selected population of Down syndrome children and their siblings. Clin-Pediatr-Phila. 31(6) 341-4.

Aluminum absorption increased in DS
Since those with Alzheimer's disease and Alzheimer's-like dementia have been found to have an increased absorption of aluminum, researchers looked at individuals with DS. 5 adult subjects were compared to 4 normals. Those with DS had an increase in aluminum absorption by a factor of 6. Researchers advised limiting dietary aluminum exposure.

     Moore, et al. (1997) Gastrointestinal absorption of aluminum in increased in Down's syndrome. Biol-Psychiatry. 41(4) 488-92.

Copper and Down syndrome
While one Polish study found copper levels in children with DS to be similar to normals (Bartelik, 1992), most research gets different results. One study conmpared 24 children with DS to normals, and found higher copper level in those with DS (Annerén, Johansson & Lindh, 1985). Even though copper, like all metal, can be toxic in high levels, scientists are not concerned. Caeruloplasmin, the protein that binds copper, is also elevated (Annerén & Gebre-Medhin, 1987), which means the extra copper should be benign.
One wonders if copper is being absorbed in excess like aluminum.

     Annerén, G. & Gebre-Medhin, M. (1987) Trace elements and transport proteins in serum of children with Down syndrome and of healthy sibblings living in the same environment. Hum-Nutr-Clin-Nutr. 41(4) 291-9.
     Annerén, G., Johansson, E. & Lindh, U. (1985) Trace element profiles in individual blood cells from patients with Down's syndrome. Acta-Paediatr-Scand. 74(2) 259-63.
     Bartelik, S. (1992) Concentrations of serum proteins in children with down syndrome. Wiad-Lek. 45(17-18) 682-5.

If you did not get edition Number 1 of 3.21 and would like a copy, please send me a note and it will go out with your next edition. That one was a free, promotional edition and focused on AAI, Zinc, and Alzheimers in moms.
Also, if you know anyone who may be interested in 3.21, send me their address and I will mail them a copy of that promotional edition

To subscribe to 3.21 for 5 issues, send $18 in US/$22 outside for family, $25 in US/$29 outside for organizations to:
Karalee Wetzel, RR2 Box 79P, Grand Forks, ND 58203. After 6/19 the address changes to 675 35th Street, Des Moines, IA 50312.

Subscription Policy
All subscriptions will begin with the first regular edition of that year.

  Revised: July 2, 1999.