Squidoo page on our book

I made a page up on Squidoo.com about our book. It creates more publicity about the book and also has a spot for comments to be left (a guestbook) . . . so sign the guestbook and leave a comment about the book!

The link is http://www.squidoo.com/gotdownsyndrome.

~ Qadoshyah

In-Womb Treatment For Down’s Syndrome

Posted on: Monday, 1 December 2008, 12:50 CST

Scientists are hoping to develop a treatment for mothers who are aware their unborn child has Down’s syndrome.

In a study with mice, scientists used gave nerve-protecting chemicals to unborn mice who had a syndrome similar to Down’s. They found that some of the noticeable developmental problems were removed among those who received the chemicals.

These mice were engineered to have an extra copy of a segment of chromosome 16, because children with Down’s suffer from having an extra copy of chromosome 21. These so-called "trisomic" individuals may also have learning difficulties and symptoms of Alzheimer's later in life.

Other studies have shown similarities between people with Down’s and trisomic mice revealed malfunctions in glial cells - brain cells that regulate the development of neurons by releasing certain proteins.

Researcher Catherine Spong and colleagues at the National Institutes of Health in Bethesda, Maryland sought to determine if the addition of segments of proteins known as NAP and SAL to mice pups would protect the neurons as to prevent developmental delays.

"We were able to prevent a significant amount of the delay," Spong said.

Researchers noted normal levels of ADNP, which is a regulatory protein that is often underproduced in children with Down’s.

Now Spong is watching to see if mice treated as fetuses also display less of a learning deficit as they mature. She hopes that the prenatal treatment might permanently increase the expression of the proteins in question.

Spong hopes her team’s new findings will translate into a workable treatment for humans affected by Down’s.

"I'd love to see these early screening tests lead to therapy and not just termination," said Charles Cantor of Sequenom in San Diego, California, which is developing a non-invasive prenatal blood-screening test for Down's. "It would have a big impact, especially for families that are not willing to consider abortion as an option."

The book . . .

I added a version of the book that has cheaper shipping costs for international people wanting to buy the book. You can see that at this link http://stores.lulu.com/gotdownsyndrome

~ Qadoshyah

Our book is finished!

We are finally done with our book and it is published! After many delays and problems getting it published, it's done.

The book is $22.73 for the printed version and $5 to download as an e-Book. The proceeds (which are very small) from the sales of the book will go towards purchasing more books to be able to get these into the hands of doctors, hospitals & the public. We also hope to make some brochures about the book for Down syndrome associations and for public awareness.

The finished product can be bought from and seen at http://stores.lulu.com/gotdownsyndrome. A 15 page preview of the book can also be seen at this link.

We hope this book will be a great resource for many parents, families, friends, doctors & professionals.

~ Qadoshyah

Book Update!

Wow, a lot of time has gone by since I last updated about the book!! We have had several delays to finishing our book, but we are almost completed now. Our move to Oklahoma caused a big wave in the progress of our book, but we are caught back up.

The book is 589 pages long and it has come together beautifully! I am just in the final stages of getting the book published and then it will be available to all! We look forward to being able to get the positive side of DS out there as much as possible. We already have a lab office that would like to keep a copy of one of our books, since they get a lot of patients with DS! Hopefully we can get it into the hands of many doctors, hospitals, professionals and parents.

See more about the book at www.gotdownsyndrome.net/Book/whatyoucandobook.html

Qadoshyah

More on the CBS gene overexpression

While searching PubMed, I ran across another study showing the biochemical imbalances in DS. Several of the things they found in this study show the over expression of the CBS (cystathionine-beta-synthase) gene.

[Biochemical alterations in patients with Down syndrome]

Down syndrome is a chromosome abnormality with specific clinical symptoms and mental retardation caused by trisomy of chromosome 21. The basic genetic change cannot be cured, the control of the associated symptoms, however, may improve the patients' quality of life. AIMS: Authors studied the possible correlations between the Down-specific genes and the related biochemical changes. Expression of superoxide dismutase, cystathionine-beta-synthase and S100 protein was investigated. Further aim of the study was to determine the total serum antioxidant capacity (transferrin, ferritin, total protein, albumin and bilirubin) along with the extracellular antioxidants as well as concentrations of homocysteine, folic acid, and vitamin B 12 . To assess the vascular damage, the activity of NAG and S100B level was measured. METHODS: Standard laboratory methods were used to determine the antioxidant capacity (Stocks, 1974), homocysteine (HPLC), folic acid (capture, IMX-Abbott), vitamin B 12 (MEIA, IMX-Abbott), S100 B protein (chemiluminescence sandwich immunoassay) levels, and N-acetyl-beta-D-glucosaminidase (spectrophotometry). RESULTS: Plasma homocysteine value proved to be lower in 7 of the 30 and higher in 6 of the 30 patients studied than the reference range. Plasma homocysteine was found 95 +/- 21% of the reference value. Relative value of plasma folic acid - expressed in percent of the normal value - was 85 +/- 51%, and that of B 12 was 78 +/- 30%. Deficiency of folic acid was detected in 2 of the 30, decreased level of B 12 in 2 of the 30 patients enrolled. No difference was found in antioxidant activity values between Down syndrome patients and healthy controls, however, neither of them reached the adult reference range. S100 protein concentration of 4-8 times higher values (average value: 0.68 +/- 0.27 microg/l) than upper limit of the reference range was observed (> 1 year: > 0.15 microg/l). Mean value of serum N-acetyl-beta-D-glucosaminidase remained within the reference range (10-30 U/l). No statistically significant correlation between the antioxidant activity and N-acetyl-beta-D-glucosaminidase values could be observed. CONCLUSION: The lower homocysteine, folic acid and B 12 values may be considered as the consequence of an increased cystathionine-beta-synthase activity ("atheroma free model"). There was no significant alteration in antioxidant activity level. It can be supposed that the hydrogene peroxide produced due to increased expression of superoxide dismutase is metabolized by the induced glutathione-peroxidase and catalase keeping by this the balance of the antioxidant system. This hypothesis is supported by the normal N-acetyl-beta-D-glucosaminidase values not indicating any vascular damage. The high S100 values, however, reflect certain brain damage which shows a progress with the age. Based on these experiences, regular control of these parameters is recommended. Furthermore authors think that folic acid supplementation is indicated in order to improve the patients' learning capacity, inhibit the development of Alzheimer symptoms and improve the quality of life.

~ Qadoshyah

Glutathione & oxidative stress

It is known that there is an increase of oxidative stress in Down syndrome due to over expressions of certain genes. There is also a decrease of glutathione due to over expressed genes. I happened to come across a study today while I was searching PubMed that was done in April 2008. It is called, A mathematical model of glutathione metabolism. This study was done at Duke University.

In the conclusion in the abstract it states,

"The model shows that overexpression of genes on chromosome 21 and an increase in oxidative stress can explain the metabolic profile of Down syndrome."

I thought this was interesting. It shows one of the mechanisms and reasons why glutathione is low in DS. The full text of the study can be seen here.

~ Qadoshyah

Bill Passed House & Senate - Prenatally & Postnatally Diagnosed Conditions Awareness Act

BROWNBACK, KENNEDY CELEBRATE PASSAGE OF PRE-NATALLY AND POST-NATALLY DIAGNOSED CONDITIONS AWARENESS ACT

WASHINGTON – U.S. Senators Sam Brownback (R-KS) and Edward M.
Kennedy (D-MA) celebrated Senate passage of the Pre-natally and Post-
natally Diagnosed Conditions Awareness Act, legislation which would
require that families who receive a diagnosis of Down syndrome or
any other condition, pre-natally or up until a year after birth, be
given up-to-date information about the nature of the condition and
connection with support services and networks that could offer
assistance.

"I am very pleased that the legislation co-sponsored by Sen.
Kennedy and me passed the Senate," said Brownback. "This bill will
greatly benefit expecting parents who receive the sometimes
overwhelming news that their unborn child may be born with a
disability. This legislation will provide parents with current and
reliable information about the many options available for caring for
children with disabilities."

The Pre-natally and Post-natally Diagnosed Conditions Awareness Act
would provide for the expansion and further development of a
national clearinghouse on information for parents of children with
disabilities, so that the clearinghouse would be better equipped to
assist parents whose children have recently been pre- or post-
natally diagnosed. The bill also provides for the expansion and
further development of national and local peer-support programs.
The bill also calls for the creation of a national registry of
families willing to adopt children with pre- or post-natally
diagnosed conditions.

"One of the hardest moments in the life of an expectant mother is
when she receives news that she is going to have a child with
special needs," said Melissa Wagoner, spokeswoman for Senator
Kennedy. "Access to the best support and information about the
condition, and the quality of life for a child born with that
condition, can make all the difference to a woman trying to make an
informed and difficult decision. Senator Kennedy believes this kind
of support is a vital element to strengthening a true culture of
life in America."

Currently, 90 percent of children pre-natally diagnosed with Down
syndrome are aborted. That percentage is similar for children pre-
natally diagnosed with other conditions such as spina bifida, cystic
fibrosis and dwarfism.

Serbia's mental institutions . . .

There has been a lot of talk on various adoption blogs about the Dateline special on Serbia's mental institutions. I watched it and it is truly horrific. You can watch it here (http://www.msnbc.msn.com/id/26332429)

The people & children in these institutions are not treated like humans. They are tied to cribs for hours at a time, they are fed a very small amount. Yet, the Serbia government tells parents that these institutions are better for these children than their parents who could raise them.

This really got to me and it is very sad and if I think about it too much, I will cry. As I was watching the Dateline video, I was holding my little 3 1/2 year old brother. He was sleeping on my lap. He is such a joy and a blessing to have in our family. God has truly blessed us with him.

My brother thrives greatly . . . he runs & jumps, laughs & plays with his siblings, and acts like any other toddler. The children in these institutions could have achieved many of the milestones that all toddlers have to achieve, if they were given the appropriate affection, love & care. But, now you have no idea what these children could have accomplished, because they have just laid in a crib, with hardly any attention & care, for their whole life . . . whether it be 4 years, 11 years, 21 years, etc.

~ Qadoshyah

Hi & more

I'm sorry I haven't updated the blog much at all the past few months. We have been extremely busy with our move from California to Oklahoma. Things are going well though :).

Richard from the DSTNI yahoo group posted this abstract earlier today and I thought it was pretty interesting. I'd like to see the full text of the study!

Serum cholinesterases in Down syndrome children before and after nutritional supplementation.

INTRODUCTION: Down syndrome (DS) children have different degrees of developmental abnormalities associated with mental retardation. A cascade of pathological changes triggering alterations in cholinesterase-mediated functions seems to be the cause of neuronal and muscular dysfunctions, such as memory loss, disturbed cognitive skills, and language impairment in virtually all DS individuals, but there are currently no efficacious biomedical treatments for these central nervous system-associated impairments. The present study aimed to evaluate the effects of nutritional supplementation on cholinesterases in serum of DS children. METHODS: Activities of acetyl- and butyrylcholinesterase were analysed in the serum samples of 40 DS children, along with an equal number of age- and sex-matched controls under study. RESULTS: The activities of serum acetyl- and butyrylcholinesterase were found to be low in DS children before nutritional supplementation, compared to controls, and showed considerable improvement after six months of supplementation of zinc in combination with antioxidant vitamins and minerals. A significant improvement was also observed in cognitive skills and behavioural patterns after nutritional supplementation. CONCLUSION: The present pilot study suggests the significance of early intervention with nutritional supplementation in DS children to ameliorate the severity of this disorder.

McMinnville woman with Down syndrome 'beats the odds' at 73

McMinnville woman with Down syndrome 'beats the odds' at 73

By CLAUDIA PINTO
Staff Writer

When Mary Perry was born with Down syndrome in the 1930s, people with the disability typically didn't live past age 9.

At 73, the McMinnville woman has managed to outlive all but one of her eightbrothers and sisters. She is one of the oldest living people with Down syndrome.

"She beat the odds," said Dr. Karen Summar, a developmental pediatrician at Vanderbilt children's hospital. "It's incredible."

The 2007 Guinness Book of World Records lists the oldest living woman with Down syndrome as Nancy Siddoway, of Utah, who was born on Aug. 18, 1937, and the oldest living man with Down syndrome as Keith Roberts, who was born in South Africa on June 6, 1953. Perry was born on June 9, 1934.

Dale Perry attributes his aunt's old age to her strong will.

The way her relatives tell it, in Mary's youth she could run "like a jackrabbit." She cleaned house. She "took care of her own bathing."

All of that changed for Mary Perry in adulthood, when her mother fell and broke her hip. From that day on, "Mary couldn't walk no more," said Jackie Perry, who met Mary Perry in 1956and went on to marry her brother.

The doctors never could find anything wrong with her legs, and she has spent the rest of her life in a wheelchair.

"It was one of those mind things," Jackie Perry said. "After she quit walking, she would say, 'I'm my momma's baby girl.' "

Dale Perry said his aunt "willed herself" to never walk again and he believes she tapped into that same strong will to live as long as she has.

Life span jumps to 55

While Perry's longevity is extraordinary, medical advances that have occurred since the 1980s have dramatically increased the life span of people with Down syndrome.

"In the future, it won't be so remarkable," Summar said. "This will become more routine, instead of the exception."

Down syndrome, caused by a chromosomal abnormality, causesmental disabilitiesand a host of medical conditions, including heart and respiratory problems. When Mary Perry was born, medical treatment either didn't exist or was not offered to this population.

Today, many of the medical conditions associated with Down syndrome can be treated. As a result, people with Down syndrome have an average life span of about 55, compared with roughly 25 in the 1980s.

"When Mary was born, they didn't have effective treatment," said Dr. Kuang-Tzu Lin, a physician specialist at Clover Bottom Developmental Center, a state-run home for people with disabilities in Nashville. "They were not too eager to pursue available treatment because there was no cure. People's concept is much different now."

Summar said the increasing life span has huge policy implications.

"There are going to be more and more people with Down syndrome living to this ripe old age," she said. "They will outlive their parents. Who will take care of them when their parents pass on? We've got to be thinking of what's ahead."

Treated like her siblings

In the 1930s, it was the standard for babies with mental or physical disabilities to be hidden away in institutions, but that wasn't the case with Mary Perry.

More than medical advances, Summar believes the care and love she's received from her family have helped her live so long.

"Being raised at home, she had proper nutrition," Summar said. "She wasn't in the crowded environment of an institution. Contagious illnesses would sweep through those places."

Her relatives say she was dearly loved and was treated just like all her other siblings growing up on the farm. But Mary Perry's mother experienced decades ago what's just becoming commonplace today.

After she fell and broke her hip, Mary Perry's elderly mother, Delia, could no longer physically take care of her 37-year-old daughter. So, Mary Perry went to live at Clover Bottom.

Renee McCormick, Mary Perry's niece, said she remembers her coming to visit the family when she was little.

"She touched my heart years ago," Renee McCormick said. "She didn't want to leave her mother."

Being a small child herself, McCormick could relate to the feeling. After a while, Mary Perry got used to her new surroundings and didn't want to go back home.

A lovely, lively lady

At Clover Bottom, Mary Perry came to be known by employees as the "Queen of the Clinch Home," after the dorm where she lived. She liked to spend her days relaxing on a recliner and looking at pictures in fashion magazines, Lin said.

"She is a very lovely lady," Lin said. "Always smiles. Always says, 'I love you.' "

But she had a wild side, too. "She was just constantly flying around in that wheelchair," Dale Perry said. "Something sparkled with her."

Mary Perry has slowed down of late. She suffered several mini-strokes and though she's conscious and moving her arms, she's not talking, Lin said. Last week, Mary Perry moved to a nursing home in McMinnville. She was reunited with her only living sibling, a sister, who also lives in the nursing home.

"We don't know how much time we have with her," Dale Perry said. "It could be a week. It could be six weeks."

But Dale Perry said he wouldn't put it past his aunt to surprise them all.

http://tennessean.com/apps/pbcs.dll/article?AID=/20080429/NEWS07/804290359

Sorry haven't been around too much . . .

Sorry I haven't posted more on here. We have been very busy lately with many things right now. We are really trying to finish writing the book and we have also been busy dealing with moving (we will be moving to Oklahoma the end of Summer, Lord willing).

More later . . .
~ Qadoshyah

In-Utero Vitamin B6 Deficiency

I just happened to be looking through PubMed (yep, something I like to do every few months ;)) and ran across this abstract about a Vit. B6 deficiency in-utero. Thought it was interesting.

Qadoshyah

Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid.

Baggot PJ, Eliseo AJ, DeNicola NG, Kalamarides JA, Shoemaker JD.

Hollywood Presbyterian Medical Center, Los Angeles, CA, USA. pjbaggot@hotmail.com

INTRODUCTION: Some studies of children with Down syndrome have found mild abnormalities in the metabolism of pyridoxine (vitamin B(6)); therefore the present question is whether such abnormalities might also be present in the amniotic fluid of fetuses with Down syndrome. MATERIALS AND METHODS: Archived specimens of amniotic fluid were obtained from chromosomally normal and from fetuses with Down syndrome. Gas chromatography/mass spectrometry quantitized B-related metabolites, including oxalate, xanthurenate, kynurenine and 4-pyridoxic acid. RESULTS: Oxalate, a marker of pyridoxine deficiency, was elevated in the amniotic fluid of fetuses with Down syndrome. This result was statistically significant. The other marker results were not statistically significant. CONCLUSION: A marker of pyridoxine deficiency, oxalate is elevated in the amniotic fluid of fetuses with Down syndrome. These results in amniotic fluid are consistent with previous studies done in the urine of young children. (c) 2008 S. Karger AG, Basel.

Pediasure . . .

Someone on the ES list asked about Pediasure and had concern about the levels of the nutrients in it. I researched Pediasure out some and gave them some info, so I thought I'd post on here the information I found out:


In regards to the Pediasure and the levels of vitamins/minerals . . .

I looked up the ingredients of Pediasure. Honestly, it does not have very
high amounts of vitamins/minerals in it, does not have all the ones which
are necessary, and it also has some which should not be given.

- it has Iron in it. It is a small amount, so it's not that big of a deal.
But, iron shouldn't be given most of the time, unless it is needed (low
iron, etc).

- The amount of Zinc in it is a crazily low amount. It is so low, it's
almost not worth having any zinc in it at all! Zinc is typically low in
those with DS (low zinc can equal low growth rate too!), and giving the
amount of zinc that is in Pediasure (very low amount), is not very
beneficial. To give you an example . . . my brother takes around 34mgs or so
of zinc a day. The amount of zinc in 100 cals of Pediasure is 0.60mgs.

- it has Copper in it. It has 100mcgs of Copper per 100cals of Pediasure.
Copper is typically high in those with DS because of the overexpression of
the Cu/Zn SOD gene. Copper should not be given unless it is low, which most
of the time it is not.

Those are the main things I notice in it.

Post a comment on the Vitamin Information Center's article - "Vitamins Found No Help for Down's Syndrome"

An article on the antioxidant & folinic acid study came through the Google Alerts. It's an article on the Vitamin Information Center website. The title of the article is Vitamins Found No Help for Down's Syndrome. I posted a slightly edited version of my letter to the Washington Post editor. You can see the article from the Vitamin Information Center at the link below.

http://tinyurl.com/2cp5lm

Post a comment to it, so that more accurate information on TNI can be seen there!

Sufficient Amounts of Antioxidants

I posted the response to the antioxidant & folinic acid study from Dr. Hickey on the DSTNI yahoo group.

Richard asked, "Do you know if NVD contains the amounts of antioxidants Dr. Hickey deems necessary?"

I thought that was a great point, so I looked it up and here's what I found:

For Vitamin C, Dr. Hickey says, "Assuming a weight of 8 kg for a 7 month old child, a minimal therapeutic ascorbate dose of 140 mg/kg gives 1120 mg, i.e. approximately one gram."

In Nutrivene-D the Vitamin C dosage for a 7 month old who weighs 9kgs or less is 200mgs.

For Vitamin E, Dr. Hickey says, "Assuming 40 IU per kg, a minimum dose of about 320 IU of a high quality, natural form of vitamin E would be required for a 7-month-old child."

In Nutrivene-D for a 7 month old child, weighing 9kgs or less, they would get 80 IU.

So, the one is lower than what Dr. Hickey may deem necessary, but the other is higher than his minimum dose.

News article, "Supplements Don't Help Down Babies" & letter to editor

This news story came through the Google Alerts the other day and I just couldn't stand it anymore. I've seen plenty of these news headlines proclaiming that supplements are no good for people with DS.

So I wrote a letter to the Washington Post editor about this news article. Below is the article and the letter to the editor.

~ Qadoshyah

Supplements Don't Help Down Babies

Tuesday, March 4, 2008; HE02

Giving babies with Down syndrome supplements containing folate and other vitamins does nothing to improve their development, British researchers reported last week. The finding, published in the journal BMJ, may dampen parental enthusiasm for vitamin supplementation, which is widespread among families with a mentally retarded child.

To test a hypothesis suggested by previous studies, researchers at Peninsula Medical School in Exeter randomly assigned 156 babies younger than 7 months who had been born with Down syndrome to one of four groups. The first received daily supplements containing folic acid, another got antioxidants including Vitamin E, a third group received both and a fourth was given a placebo.

Compliance with the regimen was verified by blood tests, and neither parents nor researchers were told which substance the babies had received until the trial ended.

After 18 months, researchers assessed the cognitive and physical development of the infants. They found that supplementation had no effect on the achievement of developmental milestones, such as the ability to sit or stand unassisted, or on the number of words a baby understood or said.

"Parents who choose to give supplements to their children need to weigh their hope of unproven benefits against potential adverse effects from high-dose, prolonged supplementation," the researchers said.

-- Sandra G. Boodman
(http://www.washingtonpost.com/wp-dyn/content/article/2008/02/29/AR2008022903404.html).

~~~~~~~~~~~~~~~~~~

Dear Editor,

I read the article, Supplements Don't Help Down Babies, by Sandra Boodman.

I wanted to write and share some more information about the study which Sandra wrote about. The study's name is, Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial.

The study claims that supplementation with antioxidants and folinic acid showed no benefit to children with Down syndrome. But, the study does not use appropriate dosing levels of antioxidants and therefore cannot truly see what benefit supplementation has on children with Down syndrome.

The study used very low doses of antioxidants in these children. Oxidative stress is known to be a large part of Down syndrome. In order for antioxidant supplementation to really help the individual with Down syndrome, much higher doses of supplements need to be given.

I am not promoting "mega-vitamin therapy," that is history. People just need to realize that higher doses (not mega doses though) of supplements need to be given to see much of any benefit.

It also should be noted that if someone reads the full text of the study, there were some differences between the children who took the supplements and the placebo group. The differences were not "statistically significant" so they are not reported in the abstract of the study or in the media.

Something else that needs to be acknowledged is the use of the RDA for people with Down syndrome. The RDA is for "generally all healthy people." This may not include people with a genetic abnormality which may make their metabolism and biochemical needs different than the general population. Sure, the RDA may be a good guideline, but it cannot be used as the standard for people with Down syndrome. The researchers did note this in their study. They say that the doses that were given to the children "may have been inadequate to affect biochemical pathways."

My 3 year old brother has Down syndrome. We give him Nutrivene-D Advanced Daily Antioxidant Supplement. It has proven to be extremely beneficial and helpful to him. It has changed his life dramatically. If it had not been for us starting him on Nutrivene-D at 8 months of age, he would not be as healthy and thriving as he is today.

I hope that people will not just believe all the news headlines that say all kinds of things ranging from "Supplements Don't Help Down Babies," to "Antioxidants don't help Down syndrome," or even "Supplements for Down's children 'Waste of cash'."

~ Qadoshyah Fish

Response to the folinic acid & supplement study - Were sufficient antioxidants employed in this study?

I just happened to look at some of the responses to the recent study on folinic acid & antioxidants in DS. I thought this response was a great response! He (Steve Hickey, PhD) explains how the study used such low doses of these nutrients that it could not benefit the children like they need to.

I also liked the last statement of his response. He says,

"Moreover, the unfortunately common propensity to give insufficient and inappropriate nutrients in trials is potentially harmful. Reports based on low intakes may prevent subjects with Down's and others from gaining benefits which are obscured by these unsuitable studies."

~ Qadoshyah

http://www.bmj.com/cgi/eletters/bmj.39465.544028.AEv2#191091

Were sufficient antioxidants employed in this study?

Steve Hickey PhD,
Lecturer
FCET, Staffordshire University, England, ST16 9DG,
Hilary Roberts PhD, Andrew Hickey



The paper by Ellis et al. illustrates a widespread problem in medicine: failure to understand the actions of antioxidants in disease. The study provides little evidence on the question of whether subjects with Down's might benefit from dietary antioxidants, because, as the authors themselves suggest, the low doses of supplements "may have been inadequate to affect biochemical pathways".

The disease mechanism for Down's syndrome arises from an increase in the activity of redox active enzymes. This leads to excess hydrogen peroxide, which causes oxidation and free radical damage in the brain. By definition, antioxidants can prevent such damage, thus potentially forming an appropriate treatment. The crucial research question is whether the appropriate dietary antioxidants can be given safely in doses sufficient to influence the pathology of the disease.

In order to influence brain pathology, dietary substances must enter the brain in sufficient concentration to act as antioxidants. The levels of primary antioxidants (vitamins C and E) used in this study were similar in magnitude to the corresponding recommended dietary allowance (RDA) levels. The subjects were young children, who would normally require lower doses than adults. However, it is important to remember that the antioxidants were intended to treat disease and, hence, we are in the realms of pharmacology rather than nutrition.

Claims for vitamin C as an antioxidant therapy involve very high doses. According to popular belief, one gram is a high dose. Contrary to this, prevention of colds (80-90%) requires doses of 10g per day or above; treatment calls for doses an order of magnitude larger. So, for example, claims for treating a cold effectively (Klenner, Cathcart, and others) [1] involve doses in the range 30g-150g per day.[2] Below these intakes, clinical effects are smaller and are more variable.[3]

The 50mg daily doses of vitamin C used in this study are substantially below pharmacological levels. Assuming a weight of 8 kg for a 7 month old child, a minimal therapeutic ascorbate dose of 140 mg/kg gives 1120 mg, i.e. approximately one gram. Thus, the dose of ascorbate employed in this study was approximately 1/20th of the minimum required. Similar considerations apply to the other nutrients. The short half-life of vitamin C means dosing frequency is also important (6 hourly or less)[2].

Subjects took 100mg of "vitamin E"; the form was not specified, although blood á-tocopherol levels were measured. Vitamin E is not a single molecule, but a range of substances that can prevent lipid oxidation in vivo. Numerous different molecules show vitamin E activity, particularly the tocopherols and tocotrienols; each has a specific pharmacology and distribution in the body. Synthetic forms, such as dl- alpha-tocopherol, are often used in studies, though they are far less effective than the naturally occurring forms.

To act as an antioxidant, vitamin E is required in higher intakes than previously realised.[4] Indeed, Balz Frei, of the Linus Pauling Institute, has described almost all clinical trials of vitamin E as "fatally flawed" because they used an insufficient dose of vitamin E.[5] To act as an antioxidant in vivo, an adult requires between 1600 and 3200 IU. Assuming 40 IU per kg, a minimum dose of about 320 IU of a high quality, natural form of vitamin E would be required for a 7-month-old child. The 100mg (synthetic?) dose employed may not act as an effective antioxidant in the brain, particularly in the absence of high levels of vitamin C.

The study employed folinic acid (0.1mg), selenium (10 ìg), zinc (5 mg), and vitamin A (0.9 mg) at low doses. Ellis et al. note that the response to folate may be enhanced by adding selected nutrients (methionine, methyl B-12, thymidine, and dimethylglycine). The specific forms of the nutrients employed was not made clear, for example forms of selenium, such as sodium selenite and methylselenocysteine, differ in pharmacology and antioxidant properties. Although we use vitamins C and E to address the main research problems, the selection and dosage of all nutrients in this study was suboptimal.

Biochemical measures in the study suggest that supplementation did not affect oxidative stress levels; this supports our suggestion that the doses employed were too low to act as in vivo antioxidants in these subjects.

The pathology of Down's syndrome has a specific oxidative mechanism. The laws of physical chemistry suggest there is little point carrying out studies using doses of antioxidants that are too low to provide the intended action: prevention of oxidation in the brain. It is possible to select suitable dietary antioxidants that can enter the brain and provide them in sufficient doses to have the desired biophysical effect.

This study did not address the role of antioxidants in Down's, as it did not use sufficient nutrients to act in vivo. Moreover, the unfortunately common propensity to give insufficient and inappropriate nutrients in trials is potentially harmful. Reports based on low intakes may prevent subjects with Down's and others from gaining benefits which are obscured by these unsuitable studies.

[1] Cathcart R.F (1985) Vitamin C, the nontoxic, nonrate-limited antioxidant free radical scavenger, Medical Hypothesis, 18, 61-77.

[2] Hickey S. Roberts H. (2004) Ascorbate: The Science of Vitamin C, Lulu press.

[3] Cathcart R.F. (1981) Vitamin C, Titration to Bowel Tolerance, Anascorbemia, and Acute Induced Scurvy, Medical Hypothesis, 7, 1359-1376.

[4] Roberts L.J. Oates J.A. Linton M.F. Fazio S. Meador B.P. Gross M.D. Shyr Y. Morrow J.D. (2007) The relationship between dose of vitamin E and suppression of oxidative stress in humans, 1388-1393.

[5]Frei B. (2007) in Vitamin E Trials 'Fatally Flawed', ScienceDaily, Sep. 26.

One more response by Miriam

Here's one last response by Miriam (from Einstein-Syndrome) to the folinic acid & antioxidant study ~ Long term negative outcomes of vitamin therapy.

John Marrs!

Jenn Marrs' son, John, has been called "The Wonder Boy" on DS listservs and in the Circle of Friends II book.

Jenny has done a lot with John to exceed what they were told John would, or more like it, would not do. John's new website is http://mysite.verizon.net/ress9jo2/johnmarrs . Jenny has a lot of very helpful and resourceful information on that site. I remember reading her program that she did with John quite a bit when my brother was younger.

Jenny is contributing several articles to our book ;). Thanks Jenny!

More response to the folinic acid & antioxidant study

Miriam (from Einstein-Syndrome) has written part 2 & 3 of her response to the recent study on supplements in DS. Here are the links to that:

Part 2: http://einsteinsyndrome.wordpress.com/2008/03/01/just-a-waste-of-cash-part-2/

Part 3: http://einsteinsyndrome.wordpress.com/2008/03/02/just-a-waste-of-cash-part-3/

Response to the study on Antioxidants in Down syndrome

Miriam, from the Einstein Syndrome site, posted part of her response to the recent study on Antioxidants in Down Syndrome.

It's a very informative article and can be found here, Just a waste of cash!

Coenzyme Q10 Supplemenation . . . beneficial

I happened to be run across this article today and I thought it was pretty interesting.

Coenzyme Q10 (ubiquinol-10) supplementation improves oxidative imbalance in children with trisomy 21.

Division of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical Center, Cincinnati, OH 45229-3039, USA. michael.miles@cchmc.org

Endogenous coenzyme Q10 is an essential cofactor in the mitochondrial respiratory chain, a potent antioxidant, and a potential biomarker for systemic oxidative status. Evidence of oxidative stress was reported in individuals with trisomy 21. In this study, 14 children with trisomy 21 had significantly increased plasma ubiquinone-10 (the oxidized component of coenzyme Q10) compared with 12 age- and sex-matched healthy children (historical controls). Also, the mean ratio of ubiquinol-10 (the biochemically reduced component):total coenzyme Q10 was significantly decreased. After 3 months of ubiquinol-10 supplementation (10 mg/kg/day) to 10 patients with trisomy 21, the mean ubiquinol-10:total coenzyme Q10 ratio increased significantly above baseline values, and 80% of individual ratios were within normal range. No significant or unexpected adverse effects were reported by participants. To our knowledge, this is the first study to indicate that the pro-oxidant state in plasma of children with trisomy 21, as assessed by ubiquinol-10:total coenzyme Q10 ratio, may be normalized with ubiquinol-10 supplementation. Further studies are needed to determine whether correction of this oxidant imbalance improves clinical outcomes of children with trisomy 21.

PMID: 18021919 [PubMed - indexed for MEDLINE]

Medical News: Vitamins Found No Help for Down's Syndrome Children

This is a new study that just came out. The full text can be seen at:
http://www.bmj.com/cgi/reprint/bmj.39465.544028.AEv2.pdf.

Of course, this doesn't change a thing with us! I know that giving my brother supplements has helped him tremendously!

I read the full text of the article and noted a couple interesting things.

The first quote here, they admit that they used low doses. They used some very low doses (5mgs of zinc, 10mcg of selenium, etc). I know, from experience especially, that higher doses of these nutrients are needed to see a benefit. I wonder if they checked the blood levels of zinc in these children? It didn't mention it in the full text. The only nutrient level tested, that was mentioned, was Vitamin E.

Also, in this first quote they admit that their low doses may not have been good enough to combat the biochemical issues in DS!

"One limitation of our study was the relatively low dose of supplements compared with commercially available preparations (Nutrivene-D and Euro TNI), which may have been inadequate to affect biochemical pathways."

I thought this was good too . . . In this second quote they admit that longer duration of supplementation may see effects.

"Our results do not exclude the possibility that subtle effects of supplementation on development might be detectable given longer term supplementation and follow-up."

Another thing I noticed is that they used RDA doses also, which is something that cannot necessarily be followed for those with DS. The reason being because the RDA is for "generally all healthy people," and therefore excludes those with something such as a genetic abnormality.

http://www.medpagetoday.com/Pediatrics/GeneralPediatrics/tb/8468


Vitamins Found No Help for Down's Syndrome Children

EXETER, England, Feb. 22 -- Children with Down's syndrome did not improve their development with the use of antioxidant vitamins, researchers here found.
Action Points
--------------------------------------------------------------------------------

a.. Explain to interested patients that early vitamin supplementation for children with Down's syndrome may not improve development.


b.. Note that antioxidant supplements and folinic acid cannot be recommended for children with Down's syndrome based on the available evidence.
Psychomotor and language development scores were no better among British children with Down's given antioxidants or folinic acid (an active metabolite of folic acid) or both than among those who received neither, reported Stuart Logan, MBChB, of Peninsula Medical School, and colleagues online in BMJ.

Nor were biochemical measures of oxidative stress improved by the supplements in the randomized controlled trial.

Vitamin and mineral supplements marketed as holding substantial benefits for children with Down's are commonly used in the United States and Europe.

However, "parents who choose to give supplements to their children need to weigh their hope of unproved benefits against potential adverse effects from high dose, prolonged supplementation," the researchers wrote.

The lack of benefit from postnatal supplementation may not be surprising because Down's screening identifies differences between fetuses with and without trisomy 21 as early as 10 weeks' gestation, commented Tim Reynolds, M.D., of Queen's Hospital in Burton-on-Trent, England, in an accompanying editorial.

"Until evidence of any benefit of expensive vitamin supplements is available, they cannot be recommended," he said.

Developmental delay in Down's has been thought to result from oxidative neuronal damage, abnormal folate metabolism, or both, they said. The evidence, though, for nutritional interventions to counteract these effects has been poor, particularly in younger children, who had been thought to be most likely to benefit.

So the researchers undertook a well-designed study among 156 infants younger than seven months with Down's but no severe cardiac defects or other serious long-term illness.

They randomized the children to a daily oral dose of antioxidants (selenium 10 μg, zinc 5 mg, vitamin A 0.9 mg, vitamin E 100 mg, and vitamin C 50 mg) or folinic acid (0.1 mg) or both, or placebo.

All were given as a powder to be mixed with food or drink and were increased in dose by 30% after a child's first birthday.

After 18 months of follow-up, overall developmental scores as measured on the Griffiths mental developmental scales were similar between children given antioxidants and those who were not (mean 57.3 versus 56.1; adjusted mean difference 1.2 points, 95% confidence interval −2.2 to 4.6).

Likewise, developmental scores were similar for children randomized to folinic acid supplements or not (mean 57.6 versus 55.9; adjusted mean difference 1.7, 95% CI −1.7 to 5.1).

For language development after 18 months of follow-up, the number of words said or signed was similar for children given antioxidants versus none (ratio of means 0.85, 95% CI 0.6 to 1.2) and for those given folinic acid versus none (ratio of means 1.24, 95% CI 0.87 to 1.77).

Nor was there any difference in the age at which infants reached milestones in motor development.

Age at sitting without support was not significantly improved with antioxidants (hazard ratio 1.10, 95% confidence interval 0.77 to 1.56) or folinic acid (HR 1.25, 95% CI 0.88 to 1.78).

Standing did not start significantly earlier with antioxidants (HR 1.25, 95% CI 0.88 to 1.78) or folinic acid (HR 1.14, 95% CI 0.76 to 1.71).

To see whether the supplements could be having a subclinical effect, the researchers looked at biomarkers of oxidative stress in blood samples obtained blood at age one and urine samples.

Activity of antioxidant enzymes -- red cell superoxide dismutase and red cell glutathione peroxidase -- was not detectably different between treatment groups. Urinary isoprostane concentrations, a marker of lipid perioxidation, were also similar across groups, "indicating that supplementation did not affect oxidative stress."

The only short-term side effect in the study was an increase in vomiting among infants taking antioxidants (P=0.002), "but the side effects of higher dose preparations used over a long period are unknown."

Doses used in the study were at least 100% of the recommended daily allowance for all the vitamins and folinic acid, but still were relatively low compared with commercially available preparations, they noted.

"We were reluctant to use higher doses, as data on the safety of high doses for young children are lacking and high dose vitamin C may in fact exhibit pro-oxidant properties," Dr. Logan and colleagues wrote.

Couple with Down syndrome win contest, exchange vows

Couple with Down syndrome win contest, exchange vows
http://tinyurl.com/2rda34


(February 18, 2008) - HENRIETTA - Cluster after cluster, relatives swarmed around Eric Neatrour and Christine Kurvits, leaning in for bear hugs and kisses on the cheek.

When it seemed that all of the adults had finished congratulating the couple, the flower girl crept up to Christine's side.

"You are going to be his partner?" asked Eric's 9-year-old niece, Elizabeth.

"Always," Christine replied.

On Sunday, Eric and Christine took the next step in their lives together, pledging their commitment to each other in a ceremony they had won.

As she watched her son read the vows he had written for Christine, Beverly Neatrour was overcome with joy.

"It just struck me that their love for each other is so innocent, that it's so genuine," she said.

Eric, 29, of Pittsford, and Christine, 24, of Victor, were born with Down syndrome.

"I never really thought this would be possible for her," said Jaak Kurvits, Christine's father, as he looked at his daughter in her white gown and thin silver crown, sitting next to the man she habitually talks about at home.

"It's Eric this, it's Eric that," said Kurvits, smiling. "It's constant."

The couple met three years ago when Christine enrolled in a program for people with disabilities at Cobblestone Arts Center, a nonprofit organization in Farmington, Ontario County. Eric said he was instantly taken by his new classmate.

"When I saw her face, I fell in love," Eric wrote in his essay to the Nuptial Network of Rochester, the group of wedding planners that awarded the ceremony at the RIT Inn and Conference Center.

The couple became friends, dancing together in their performing arts classes at Cobblestone.

Friendship soon became something more. Christine didn't want to have any other dancing partner.

"I had to keep saying, 'This is not a dating service. We have classes to go to,'" said Lorene Benson, executive director of Cobblestone Arts Center. But, Benson said, Eric and Christine are great students. They not only take care of each other but also watch out for classmates.

The pair began spending time with each other outside of class, at night and on the weekends. They would monopolize the Neatrour family living room with their board games. They would cuddle on the couch and watch American Idol and Dancing with the Stars. They would go out to dinner at Applebee's with Eric's older brother, Paul.

Then, last spring while sitting at home, Eric saw a flier from the Center for Disability Rights advertising a fundraiser being organized by the Nuptial Network of Rochester. The group was also advertising a $25,000 wedding giveaway to a couple with the best love story.

Eric asked his mother if he could enter. Why not, she said.

In June, she received a phone call from Sue Kurvits, Christine's mother. Eric had asked Jaak Kurvits for his daughter's hand in marriage. In September, Jaak received a phone call from the Nuptial Network, telling him that the group had chosen Eric and Christine over 25 other couples.

The two families decided that for now, a commitment ceremony would be more appropriate than a wedding.

And for now, Eric and Christine will each continue to live with their parents. They hope that maybe in a year or two they will be able find an apartment of their own, a place where they can be independent but also receive assistance when they need it.

Sarah Schleider, vice president of marketing and communications for the New York City-based National Down Syndrome Society, said that in each of the past few years, her organization has heard about two or three couples with Down syndrome who get married.

"It is becoming more common because individuals are living longer, living more fulfilling lives and living more independently," Schleider said.

After Sunday's ceremony ended and the guests had piled into the dining room, Eric and Christine took their place as they waited to be announced to the crowd.

Eric turned to Christine, took her hand and whispered.

"I want people to know that I won this contest for you," he said.

Article: 'Abortion is never an easy option: Why I aborted my first child'

What a terrible and sickening article!

She even admits that she killed her baby - "I pass Down's children on the street and think, 'I killed mine.'", but still says, "I remain certain that, for us, it was the right decision."

www.dailymail.co.uk/pages/you/article.html?in_article_id=513058&in_page_id=1908

'Abortion is never an easy option: Why I aborted my first child'

by KATHERINE MOBEY

YOU reader Katherine Mobey, 38, is a customer manager for a supermarket chain and her husband Neil, 35, is an operations manager for a recruitment company. Six years ago, they aborted their first child after it was diagnosed with Down's - a traumatic decision that took their marriage to breaking point. Here, Katherine tells their story...

Every mother can remember the moment when that blue line appears on the pregnancy test and, all of a sudden, you are contemplating a whole new future.

Neil and I had been married less than a year when, in 2001, I discovered I was expecting. We were so ecstatic, we immediately went out and bought three more tests - just to be sure.

The routine 12-week scan gave us the first sight of our baby and all appeared to be well. When we were offered the chance of another more detailed scan, we saw it as a bonus. There was no family history of complications, but it seemed wise to take every precaution.

The nuchal translucency scan - so called because it measures the nuchal folds at the back of the baby's neck to help detect Down's syndrome - was to be carried out at King's College Hospital in South London, and has to be done before you are 14 weeks pregnant.

My appointment was delayed when my GP surgery lost my notes and I made it just before the deadline.

The sonographer scanning me was calm and obviously experienced. I trusted her completely. But when she became quiet for a few moments, I knew instantly that something was wrong. She explained that my baby had exomphalos - a rare condition in which part of the intestine grows outside the body.

It was something that could be corrected by surgery, she said, but it could be an indicator of further problems. Neil was holding my hand. We were both in shock and I was crying. Four or five doctors poured into the room to look at the screen. I had become an exhibit.

A measurement of the nuchal folds revealed a one in 56 risk that my baby had Down's. To get a firm diagnosis, I was told I would need a chorionic villus sampling (CVS) test.

This involves taking a sample of amniotic fluid and can accurately detect Down's and other chromosomal abnormalities. We agreed to have it done there and then. By the time we left the hospital, it was early evening.

As I walked on to the street, I was physically sick. It had been such a shattering experience. Driving home, I realised my relationship with my baby had changed.

Every pregnant woman wants the little person growing inside her to be perfect - but my dreams had turned into a fearful vision.

Neil and I stayed at home for the four days it took for the CVS results to come through. In the three years we had known each other, we had been so happy. Now, for the first time, a black cloud was hanging over us.

It was mid-afternoon when the midwife called. As soon as she told me it was bad news, I broke down. The baby was seriously affected by Down's as well as the intestinal complications.

We didn't know what its life expectancy would be or what medical treatment it would need, but we did know that we would not be able to cope with a severely disabled child.

Going ahead with the pregnancy wasn't even up for discussion. Neil stayed strong and made all the necessary arrangements.

I saw a consultant the following day and talked through the abortion procedure.

The delay caused by my GP losing my notes meant that, at almost 16 weeks pregnant, I had passed the safe threshold for a surgical termination and would have to go through an induced labour.

The first step was to take drugs that block the pregnancy hormones and stop the baby's heart beating. I was booked to return a couple of days later for the abortion itself.

Neil and my mother came with me. At Farnborough Hospital (now replaced by the Princess Royal University Hospital) in Kent, I was put into the side room of a maternity ward.

I couldn't see what was going on around me, but I was aware of healthy babies being born nearby. A pessary was inserted to bring on contractions and I was moved into a delivery room.

Mum sat on one side of me, knitting, Neil rubbed my feet and I had gas and air and some pethidine to ease the pain. I was told the labour would take up to 16 hours; in the event, it was only six. The midwife had asked me at the outset whether I would want to see the baby when it was born.

My reaction had been, "Oh God, no."

I know a lot of people name and cuddle their baby.

But I couldn't do it - hold the dead and deformed being that had been inside me. I never even found out the sex, although I have always thought of it as a girl. In the years since, I have struggled hugely with the way I rejected my baby. I know it was a dreadfully unmotherly thing to do.

At the point of delivery, Neil and Mum left the room. On his way back, Neil saw someone taking away the baby in a bundle of tissue down the corridor – presumably to the incinerator. He often talks about that moment and it is extremely painful for him.

Afterwards – and I know this will sound bizarre – we were elated. Mum and Neil were saying, 'Well done,' and relief flooded over me. For Mum, it had meant losing a grandchild, but she was totally supportive of our decision – her priority throughout was me.

When I left hospital the following day, I was given a leaflet on miscarriage – a mistake, but one that made me feel very alone.

Friends and colleagues were incredibly kind - no one has ever criticised me - but it was hard for many people to understand fully what we had been through.

I returned to work after a couple of weeks, but couldn't concentrate and kept breaking down in meetings.

My employers agreed to let me reduce my hours temporarily and King's College Hospital referred me to a psychotherapist. I saw her on and off for two years, and without her I don't think I would be where I am today.

There were three conflicting emotions that I had to deal with.

First, the guilt at having rejected my baby was foremost and overwhelming. Second, I was battling with a massive sense of failure - I am the third of four children, my elder brother and sister each had two healthy children, and my younger sister Pippa had just announced she was pregnant.

I could hardly bear to be around her. Losing the baby had become the catalyst for a whole mass of deeply rooted emotions.

My family were all academic high-achievers. I had done well, but not as well as them.

And Neil was my second husband - my first, to a boy with whom I was at school, had ended disastrously after a year.

I felt like the black sheep - the one who couldn't even get having a baby right the first time round.

My third irrational but very real feeling was that my body had been contaminated by having a sickly child in my womb.

I was desperate to replace the baby we had lost but, looking back, it was too soon for Neil. He had had to be strong for me, but no one was taking care of him.

He needed time out, but I was pushing and pushing to try for another baby, and after eight months, I fell pregnant with our daughter Honor.

The pregnancy was fine, and tests showed nothing untoward, but that didn't stop me having panic attacks. My life was consumed by the baby "project".

When Honor was born, I couldn't quite believe my 'contaminated' body had produced a healthy baby.

I was so focused on being a good mother that I was probably overprotective, and Neil ended up feeling abandoned.

On the surface, we looked like any other happy new parents, but underneath there was a build-up of problems that we weren't addressing.

Both of us were still struggling to come to terms with what we had been through.

I had had the support of therapy and a network of friends and family; Neil had me, but now that we had Honor I wasn't so available for him.

When Honor was a year old he left, saying he needed a break. It was a terrible shock. Until then, I hadn't stopped to acknowledge how troubled things were between us.

More than anything we needed to talk. Splitting up forced us to do that. I listened hard and realised that the pain lived on inside Neil, just as it did in me.

A month later he moved back, and it was tough but we were determined to make it work. I hope we will be together for ever, but I no longer assume anything. I've learnt there are no guarantees.

After a lot of thought, we've decided against having another baby. Honor is now aged four and wonderful, but my pregnancies were dark days and we don't want to go back there.

I no longer feel a failure. I'm proud that I have such a lovely family.

Having Honor was the proof my psyche needed that my body isn't contaminated.

But the guilt, I realise now, I will have for ever. I pass Down's children on the street and think, 'I killed mine.'

I know they can be wonderfully loving. There is no escaping the reality of what I did, or the way I mentally rejected my baby. The hospital took photos, but I have never seen them, and it feels too late to go back there now.

Abortion can never be described as an easy option. I still cry as though mine were yesterday.

And yet I remain certain that, for us, it was the right decision.

An Interesting Thing To Note . . .

The study below is interesting. I've seen it before, but came across it again today and noted something in it that I hadn't noted before. The results of the study showed that in these patients with DS their zinc levels were low in plasma and urine. It says before this that the dietary intake of zinc was adequate ~

"The diet of both groups presented adequate concentrations of lipids, proteins, carbohydrates, and zinc."

-- I just thought this was interesting because a lot of people say, if they are consuming an adequate amount of these nutrients in foods from their diet, there's no need for a supplement, like TNI. It makes a point to show that getting an "adequate" amount of certain nutrients from the diet isn't always enough. Supplementation can't always be avoided.

Qadoshyah

~~~
Zinc nutritional status in adolescents with Down syndrome.

Studies have evidenced that zinc metabolism is altered in presence of Down syndrome, and zinc seems to have a relationship with the metabolic alterations usually present in this syndrome. In this work, the Zn-related nutritional status of adolescents with Down syndrome was evaluated by means of biochemical parameters and diet. A case-control study was performed in a group of adolescents with Down syndrome (n = 30) and a control group (n = 32), of both sexes, aged 10 to 19 years. Diet evaluation was accomplished by using a 3-day dietary record, and the analysis was performed by the NutWin program, version 1.5. Antropometric measurements were performed for evaluation of body composition. The Zn-related nutritional status of the groups was evaluated by means of zinc concentration determinations in plasma and erythrocytes, and 24-h urinary zinc excretion, by using the method of atomic absorption spectroscopy. The diet of both groups presented adequate concentrations of lipids, proteins, carbohydrates, and zinc. The mean values found for zinc concentration in erythrocytes were 49.2 +/- 8.5 microg Zn/g Hb for the Down syndrome group and 35.9 +/- 6.1 microg Zn/g Hb for the control group (p = 0.001). The average values found for zinc concentration in plasma were 67.6 +/- 25.6 microg/dL for the Down syndrome group and 68.9 +/- 22.3 microg/dL for the control group. The mean values found for zinc concentration in urine were 244.3 +/- 194.9 microg Zn/24 h for the Down syndrome group and 200.3 +/- 236.4 microg Zn/24 h for the control group. Assessment of body composition revealed overweight (26.7%) and obesity (6.6%) in the Down syndrome group. In this study, patients with Down syndrome presented altered zinc levels for some cellular compartments, and the average zinc concentrations were low in plasma and urine and elevated in erythrocytes.