Tuesday, January 22, 2008

About Time They Started Doing Something . . . .

NIH Develops Down Syndrome Research Plan

The National Institutes of Health has developed a research plan to advance understanding of Down syndrome and speed development of new treatments for the condition, the most frequent genetic cause of mild to moderate mental retardation and associated medical problems. The plan sets research goals for the next 10 years that build upon earlier research advances fostered by the NIH.

"Through the years, the NIH research effort has led to increased understanding of Down syndrome," said Elias Zerhouni, M.D., director of the National Institutes of Health. "We are now poised to capitalize on these advances and improve the health of people with Down syndrome."

Down syndrome occurs in 1 out of every 800 births in the United States. Down syndrome most frequently results from an extra copy of chromosome 21 in the body's cells. In most cases, this extra chromosome comes from the mother. In some cases, forms of Down syndrome can result from just having an extra portion of chromosome 21. The chance of giving birth to a baby with Down syndrome increases as women age.

Infants with Down syndrome have certain characteristic physical features, such as short stature, distinctive facial features and are more likely to have health conditions like hearing loss, heart malformations, hypertension, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally is severe. People with Down syndrome are also much more likely to die from infections if left untreated.

The NIH's National Institute of Child Health and Human Development convened a working group of NIH scientists. Through a public comment process, the scientists listened to comments and suggestions from families of individuals with Down Syndrome, as well as from Down Syndrome research advocacy organizations. The NIH scientists then developed the research plan in collaboration with researchers in the national scientific community.

Among the research objectives identified as priorities over the next 10 years is the need for greater access to laboratory animals with the characteristics of Down syndrome.

The plan cites the need for increased research on the medical, cognitive, and behavioral conditions that occur in people with Down syndrome. These conditions include leukemia, heart disease, sleep apnea, seizure disorders, stomach disorders and mental health problems.

The working group also identified the need to study whether aging has a greater impact on mental processes in people with Down syndrome than in people who do not have Down syndrome. As adults, individuals with Down syndrome age prematurely and may experience dementia, memory loss or impaired judgment similar to that experienced by Alzheimer's disease patients.

The plan summarizes current research efforts by the various NIH institutes studying Down syndrome.

The National Institute of Child and Human Development (NICHD) has supported Down syndrome research since the institute was established in the 1960s. NICHD scientists have bred mice that help researchers study the intellectual disability and dementia that occurs in Down syndrome. The NICHD is currently studying specific genes and gene groups that may play a role in developing Down syndrome. Researchers are also studying the role that the age of the mother's egg plays in developing the disorder.

An NICHD-sponsored study is examining whether individuals with an additional complete copy of chromosome 21 differ as they age from people with only a portion of the extra chromosome. Another long-term study will examine the prevalence of dementia in adults with Down syndrome and whether certain medications, like hormone replacement therapy, slow the aging process in Down syndrome.

Other NICHD-supported projects include devising a weight loss program for adults with developmental disabilities, and a computer program to help children with Down syndrome learn.

The National Heart, Lung, and Blood Institute (NHLBI) is supporting studies of the genes that contribute to heart malformations found in Down syndrome patients. The NHLBI also is supporting investigations of the causes and potential treatments for obstructive sleep apnea, a disorder in which throat tissue blocks the airway during sleep, temporarily shutting off air to the lungs. Obstructive sleep apnea is common in Down syndrome children.

Children with Down syndrome are 10 to 15 times more likely than other children to develop leukemia. The National Cancer Institute is investigating various types of leukemia that affect children with Down syndrome.

Other NIH institutes continue to investigate additional aspects of Down syndrome. The National Institute on Aging is conducting research on ways to treat Alzheimer's disease in people with Down syndrome.

The National Institute of Allergy and Infectious Diseases is studying the significance of two genes recently found in a region of chromosome 21. These genes are involved in the development of the immune response against disease.

The National Institute of Mental Health is investigating rates and possible treatments for mental disorders found with Down syndrome. These include autism, obsessive-compulsive disorder, depression, and psychosis.

The National Institute of Neurological Disorders and Stroke (NINDS) is investigating how the brain is affected by Down syndrome. The intellectual disability seen in people with Down syndrome is caused when neurons die or do not function properly. One NINDS study is investigating the potential role of a specific gene called APP, for amyloid precursor protein. It is thought that disruption of the APP gene may kill neurons by interfering with a growth factor needed for neurons to survive. APP is believed to be related to Alzheimer's disease and may play a role in Down syndrome.

The research plan on Down syndrome "is intended to provide the NIH, and its member Institutes and Centers, with guidelines for prioritizing and coordinating future research related to Down syndrome," wrote the members of the NIH Down syndrome working group in the report.

The working group is moving forward to implement plan objectives. The plan's short- term objectives are expected to be accomplished within the next three years.

The report is available on the NICHD Web site at http://www.nichd.nih.gov/publications/pubs/upload/NIH_Downsyndrome_plan.pdf

The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute's Web site at http://www.nichd.nih.gov/.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Monday, January 14, 2008


I updated the rebuttal that I wrote to Dr. Leshin's article on TNI over the past couple days. I just put it up on the site now. I changed a few things in the body of the article and I also added some new research to it that has been put out over the past year or so since I wrote the article.

Thursday, January 10, 2008

Reversal Of Alzheimer's Symptoms Within Minutes In Human Study

This could be an important research finding for adults with DS!

Reversal Of Alzheimer's Symptoms Within Minutes In Human Study ScienceDaily (Jan. 9, 2008) — An extraordinary new scientific study, which for the first time documents marked improvement in Alzheimer's disease within minutes of administration of a therapeutic molecule, has just been published in the Journal of Neuroinflammation. This new study highlights the importance of certain soluble proteins, called cytokines, in Alzheimer's disease. The study focuses on one of these cytokines, tumor necrosis factor-alpha(

TNF), a critical
component of the brain's immune system. Normally, TNF finely
regulates the transmission of neural impulses in the brain. The
authors hypothesized that elevated levels of TNF in Alzheimer's
disease interfere with this regulation. To reduce elevated TNF, the
authors gave patients an injection of an anti-TNF therapeutic called
etanercept. Excess TNF-alpha has been documented in the cerebrospinal
fluid of patients with Alzheimer's.

The new study documents a dramatic and unprecedented therapeutic
effect in an Alzheimer's patient: improvement within minutes
following delivery of perispinal etanercept, which is etanercept
given by injection in the spine. Etanercept (trade name Enbrel) binds
and inactivates excess TNF. Etanercept is FDA approved to treat a
number of immune-mediated disorders and is used off label in the

The use of anti-TNF therapeutics as a new treatment choice for many
diseases, such as rheumatoid arthritis and potentially even
Alzheimer's, was recently chosen as one of the top 10 health stories
of 2007 by the Harvard Health Letter.

Similarly, the Neurotechnology Industry Organization has recently
selected new treatment targets revealed by neuroimmunology (such as
excess TNF) as one of the top 10 Neuroscience Trends of 2007. And the
Dana Alliance for Brain Initiatives has chosen the pilot study using
perispinal etanercept for Alzheimer's for inclusion and discussion in
their 2007 Progress Report on Brain Research.

The lead author of the study, Edward Tobinick M.D., is an assistant
clinical professor of medicine at the University of California, Los
Angeles and director of the Institute for Neurological Research, a
private medical group in Los Angeles. Hyman Gross, M.D., clinical
professor of neurology at the University of Southern California, was

The study is accompanied by an extensive commentary by Sue Griffin,
Ph.D., director of research at the Donald W. Reynolds Institute on
Aging at the University of Arkansas for Medical Sciences (UAMS) in
Little Rock and at the Geriatric Research and Clinical Center at the
VA Hospital in Little Rock, who along with Robert Mrak, M.D.,
chairman of pathology at University of Toledo Medical School, are
editors-in-chief of the Journal of Neuroinflammation.

Griffin and Mrak are pioneers in the field of neuroinflammation.
Griffin published a landmark study in 1989 describing the association
of cytokine overexpression in the brain and Alzheimer's disease. Her
research helped pave the way for the findings of the present study.
Griffin has recently been selected for membership in the Dana
Alliance for Brain Initiatives, a nonprofit organization of more than
200 leading neuroscientists, including ten Nobel laureates.

"It is unprecedented that we can see cognitive and behavioral
improvement in a patient with established dementia within minutes of
therapeutic intervention,
" said Griffin. "It is imperative that the
medical and scientific communities immediately undertake to further
investigate and characterize the physiologic mechanisms involved.
This gives all of us in Alzheimer's research a tremendous new clue
about new avenues of research, which is so exciting and so needed in
the field of Alzheimer's. Even though this report predominantly
discusses a single patient, it is of significant scientific interest
because of the potential insight it may give into the processes
involved in the brain dysfunction of Alzheimer's.

While the article discusses one patient, many other patients with
mild to severe Alzheimer's received the treatment and all have shown
sustained and marked improvement.

The new study, entitled "Rapid cognitive improvement in Alzheimer's
disease following perispinal etanercept administration,
" and the
accompanying commentary, entitled "Perispinal etanercept: Potential
as an Alzheimer's therapeutic,
" are available on the Web site of the
Journal of Neuroinflammation

Author Hyman Gross, M.D., has no competing interests. Author Edward
Tobinick, M.D. owns stock in Amgen, the manufacturer of etanercept,
and has multiple issued and pending patents assigned to TACT IP LLC
that describe the parenteral and perispinal use of etanercept for the
treatment of Alzheimer's disease and other neurological disorders,
including, but not limited to, U.S. patents 6015557, 6177077,
6419934, 6419944, 6537549, 6982089, 7214658 and Australian patent

Adapted from materials provided by University of Arkansas for Medical

Monday, January 7, 2008

Down Syndrome Center at Rady Children's Hospital - San Diego, CA

Posting this with permission from the list it was posted on.

Hi everyone!

I've been too busy helping with this to post lately, but we're trying
to get the word out to everyone that the DS Center at Rady Children's
Hospital-San Diego will open on Janaury 15th! Please forward this to
anyone you know in the surrounding areas/states too.

For more info and the call in number for appointments, go to


Friday, January 4, 2008

The Changes We've Seen

The changes we've seen with my brother and Ginkgo Biloba is his attention span and being able to focus better.

His attention span is great and he is able to focus really well. His delayed response time is very minimal.

We've noticed some changes in him lately, which I don't know if they are directly to the GB or not, but nonetheless it is interesting.

He can be given two things to do and he's able to do both of them without doing only the one thing. Like after we've fed him yogurt. There's the yogurt container that has to be thrown in the trash can and there's the spoon that has to be put in the sink. We give him both of them and tell him what to do with each one and he goes and puts the one in the trash and the other in the sink. A few months ago, he would have only been able to do one or the other, not remember to keep them both separate. Now, whether this is due to the GB, or just that he is getting older (will be 3 y/o in February), I don't know.

The other day when I was doing the stacking rings with him. Normally he picks up the smallest two rings first for whatever reason, but that is what he always does. Sometimes I'll stack them up the wrong way so that as he takes the first ones off the top of the stack, he puts them on the stacking toy in the right order. But, the other day I decided to leave them all laying there and just ask him to put the right one on to see if he could do it in the right order. He went to pick up the two smallest two and I said, "no, those don't go on first, can you pick up the red one?" He put down the smallest two, looked around at the pieces and picked up the red one and put it on. He did it with all the pieces . . . orange, green, yellow, dark blue, etc. He ended up doing it two times in a row! I was so excited. Again, I don't know if this is related to the GB, or another supplement, or if he is just growing.

Nonetheless, changes similar to these are the things that we've noticed with him and the GB.

Zinc status in Down syndrome

As has been found in other studies, zinc is low in individuals with Down syndrome.

Zinc nutritional status in adolescents with Down syndrome.

Universidade Federal do Piauí, Teresina, Piauí, Brazil.

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.

Speaking of Neurogenesis . . .

The Changing Minds protocol and all was being discussed on some of the DS lists I am. I know at least part of Dr. Cody's protocol is based on improving Neurogenesis in DS. As I was searching PubMed I happened to run across this abstract that was just published in December. It shows that there are reduced numbers of neurons in the brains of babies with DS (in the hippocampal region) and this is partly caused by an impairment of neurogenesis. Just thought it was interesting and maybe others may find it interesting.

Neurogenesis Impairment and Increased Cell Death Reduce Total Neuron Number in the Hippocampal Region of Fetuses with Down Syndrome.

Dipartimento di Fisiologia Umana e Generale, Università di Bologna, Bologna, Italy.

We previously obtained evidence for reduced cell proliferation in the dentate gyrus (DG) of fetuses with Down syndrome (DS), suggesting that the hippocampal hypoplasia seen in adulthood may be caused by defective early neuron production. The goal of this study was to establish whether DS fetuses (17-21 weeks of gestation) exhibit reduction in total cell number in the DG, hippocampus and parahippocampal gyrus (PHG). Volumes of the cellular layers and cell number were estimated with Cavalieri's principle and the optical fractionator method, respectively. We found that in DS fetuses all investigated structures had a reduced volume and cell number. Analysis of cell phenotype showed that DS fetuses had a higher percentage of cells with astrocytic phenotype but a smaller percentage of cells with neuronal phenotype. Immunohistochemistry for Ki-67, a marker of cycling cells, showed that DS fetuses had less proliferating cells in the germinal zones of the hippocampus and PHG. We additionally found that in the hippocampal region of DS fetuses there was a higher incidence of apoptotic cell death. Results show reduced neuron number in the DS hippocampal region and suggest that this defect is caused by disruption of neurogenesis and apoptosis, two fundamental processes underlying brain building.

The Brain of a Baby With DS

I thought this was interesting. It was just published in November. The link to the full text is below. It kind of goes along the lines of what was discussed several months ago (maybe a year or more by now) on the ES list of the brain of a baby with DS being normal or abnormal from the get-go.

Fetal Down Syndrome Brains Exhibit Aberrant Levels of Neurotransmitters Critical for Normal Brain Development

Nigel Whittle, MAppScia, Simone B. Sartori, PhDa, Mara Dierssen, MD, PhDb, Gert Lubec, MDc and Nicolas Singewald, PhDa BACKGROUND. In the immature developing fetal brain, amino acids (such as -aminobutyric acid, and taurine) and monoamines (serotonin, noradrenaline, and dopamine) act as developmental signals or regulators. In subjects with Down syndrome, dysfunctional brain development is evident from birth as reduction in brain weight, as well as volume reductions in specific brain regions, and an altered number of neurons, dendrites, and dendritic branching is observed. However, mechanisms that underlie the observed dysfunctional brain development in Down syndrome are not clear. OBJECTIVES. Because diverse amino acids and monoamines are critical for normal brain development, we wanted to determine whether dysfunctional brain development observed in subjects with Down syndrome is associated with altered brain amino acid and/or monoamine levels. DESIGN/METHODS. We quantified tissue concentrations of diverse amino acids, including -aminobutyric acid and taurine, and the monoamines serotonin, noradrenaline, and dopamine in the frontal cortex of fetal Down syndrome tissue at a gestational age of 20 weeks versus age-matched control aborted fetuses. RESULTS. Fetal Down syndrome brains showed reductions in the levels of serotonin, -aminobutyric acid, taurine, and dopamine in the frontal cortex. No alteration in the levels of arginine, aspartate, glutamine, glutamate, glycine, histidine, serine, or noradrenaline was observed. CONCLUSIONS. Serotonin, -aminobutyric acid, taurine, and dopamine are critical for the acquisition of brain morphologic features, neuronal and glia proliferation, and synapse formation. The detected reductions in the levels of these neurotransmitters may indicate potential mechanisms for the observed dysfunctional neuronal development in the Down syndrome fetal brain. http://pediatrics.aappublications.org/cgi/content/full/120/6/e1465

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