Creatine - A Strong New Hope for our Non-Verbal Kids

Characteristics

Research in Cerebral Creatine Deficiency Syndromes has found that certain people are born with the inability to transport Creatine, a byproduct of the ATP Metabolic Process, into their brains.  There are several different types of Cerebral Creatine Deficiency Syndromes or CCDS, with the majority of individuals with the subtype, "GAMT" deficiency have a behavior disorder that can include autistic behaviors and self-mutilation.  Another subtype, "SLC6A8" deficiency in males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, and behavior disorder, all characteristics of Autism.  Females usually only suffer from the subtype "SLC6A8" deficiency may have learning and behavior problems.

Diagnosis / Testing.

Here's the best part, it's fairly easy to test your Autistic Child for CCDS with an MRI, which can then be confirmed with a blood test.

Management.

100% Pure Creatine Monohydrate
GAMT deficiency and the much rarer AGAT deficiency are treated with oral creatine monohydrate to increase cerebral creatine levels. Treatment of GAMT deficiency may also require supplementation of ornithine and dietary restriction of arginine. Unfortunately, in males with SLC6A8 deficiency creatine supplementation alone does not improve outcome (other than perhaps better muscle tone, for those suffering from low muscle tone) and does not result in increased cerebral creatine levels; likewise, high-dose L-arginine and L-glycine supplementation did not improve clinical or biochemical outcome. One female with intractable epilepsy responded to high-dose L-arginine and L-glycine supplementation with cessation of seizures.


Prevention.

Whether early treatment prevents disease manifestations is unknown; however, newborn sibs of individuals with AGAT or GAMT deficiency seem to benefit from early treatment.

For the full details of the NIH Article by Drs' Saadet Mercimek-Mahmutoglu, MD, FCCMG, Sylvia Stöckler-Ipsiroglu, MD, PhD, MBA,FRCPC, and Gajja S Salomons, PhD. click here.

New Published Study Verifies Andrew Wakefield’s Research on Autism – Again


Controversial Doctor and Autism Media Channel Director proven right - MMR Vaccine Causes Autism & Inflammatory Bowel Disease

Two landmark events – a government concession in the US Vaccine Court, and a groundbreaking scientific paper – confirm that physician, scientist, and Autism Media Channel [AMC] Director, Dr. Andrew Wakefield, and the parents were right all along.
In a recently published December 13, 2012 vaccine court ruling, hundreds of thousands of dollars were awarded to Ryan Mojabi, [i] whose parents described how “MMR vaccinations,” caused a “severe and debilitating injury to his brain, diagnosed as Autism Spectrum Disorder (‘ASD’).”
Later the same month, the government suffered a second major defeat when young Emily Moller from Houston won compensation following vaccine-related brain injury that, once again, involved MMR and resulted in autism. The cases follow similar successful petitions in the Italian and US courts (including Hannah Poling [ii], Bailey Banks [iii], Misty Hyatt [iv], Kienan Freeman [v], Valentino Bocca [vi], and Julia Grimes [vii]) in which the governments conceded or the court ruled that vaccines had caused brain injury. In turn, this injury led to an ASD diagnosis. MMR vaccine was the common denominator in these cases.
And today, scientists and physicians from Wake Forest University, New York, and Venezuela, reported findings that not only confirm the presence of intestinal disease in children with autism and intestinal symptoms, but also indicate that this disease may be novel. [viii] Using sophisticated laboratory methods Dr. Steve Walker and his colleagues endorsed Wakefield’s original findings by showing molecular changes in the children’s intestinal tissues that were highly distinctive and clearly abnormal.
From 1998 Dr. Wakefield discovered and reported intestinal disease in children with autism. [ix] Based upon the medical histories of the children he linked their disease and their autistic regression to the Measles, Mumps, Rubella (MMR vaccine). He has since been subjected to relentless personal and professional attacks in the media, and from governments, doctors and the pharmaceutical industry. In the wake of demonstrably false and highly damaging allegations of scientific fraud by British journalist Brian Deer and the British Medical Journal, Dr. Wakefield is pursuing defamation proceedings against them in Texas. [x]
While repeated studies from around the world confirmed Wakefield’s bowel disease in autistic children [xi] and his position that safety studies of the MMR are inadequate, [xii] Dr. Wakefield ’s career has been destroyed by false allegations.  Despite this he continues to work tirelessly to help solve the autism catastrophe.
The incidence of autism has rocketed to a risk of around 1 in 25 for children born today. Mean while governments, absent any explanation and fearing loss of public trust, continue to deny the vaccine autism connection despite the concessions in vaccine court.
Speaking from his home in Austin, Texas, Dr. Wakefield said, 
There can be very little doubt that vaccines can and do cause autism. In these children, the evidence for a n adverse reaction involving brain injury following the MMR that progresses to an autism diagnosis is compelling. It’s now a question of the body count. The parents’ story was right all along. Governments must stop playing with words while children continue to be damaged . My hope is that recognition of the intestinal disease in these children will lead to the relief of their suffering. This is long , long overdue .”
Dr. Andrew Wakefield is a best selling author, [xi] founder of the autism research non profit Strategic Autism Initiative (SAI), and Director of the Autism Media Channel.

References

and
[iv] Vaccine Case: An Exception Or A Precedent? February 11, 2009 3:20 PM CBS News By Sharyl Attkisson
[ix] Wakefield AJ. Callous Disregard: Autism and Vaccines – The Truth Behind a Tragedy. 2010. Skyhorse Publishing, NY, NY. Chapter 1, footnotes 1 & 4, p.20
[x] For Affidavits see www.DrWakefieldJusticeFund.org
[xi] Wakefield AJ. Waging War on the Autistic Child. 2012 Skyhorse Publishing NY, NY. Chapter 2, footnotes 2 11, pp. 255 256
[xii] Jefferson T et al, Unintended events following immunization with MMR: a systematic review. Vaccine 21 (2003) 3954–3960
Here is a list of 28 studies from around the world that support Dr. Wakefield’s research:
  1. The Journal of Pediatrics November 1999; 135(5):559-63
  2. The Journal of Pediatrics 2000; 138(3): 366-372
  3. Journal of Clinical Immunology November 2003; 23(6): 504-517
  4. Journal of Neuroimmunology 2005 
  5. Brain, Behavior and Immunity 1993; 7: 97-103
  6. Pediatric Neurology 2003; 28(4): 1-3
  7. Neuropsychobiology 2005; 51:77-85
  8. The Journal of Pediatrics May 2005;146(5):605-10
  9. Autism Insights 2009; 1: 1-11
  10. Canadian Journal of Gastroenterology February 2009; 23(2): 95-98
  11. Annals of Clinical Psychiatry 2009:21(3): 148-161
  12. Journal of Child Neurology June 29, 2009; 000:1-6
  13. Journal of Autism and Developmental Disorders March 2009;39(3):405-13
  14. Medical Hypotheses August 1998;51:133-144.
  15. Journal of Child Neurology July 2000; ;15(7):429-35
  16. Lancet. 1972;2:883–884.
  17. Journal of Autism and Childhood Schizophrenia January-March 1971;1:48-62
  18. Journal of Pediatrics March 2001;138:366-372.
  19. Molecular Psychiatry 2002;7:375-382.
  20. American Journal of Gastroenterolgy April 2004;598-605.
  21. Journal of Clinical Immunology November 2003;23:504-517.
  22. Neuroimmunology April 2006;173(1-2):126-34.
  23. Prog. Neuropsychopharmacol Biol. Psychiatry December 30 2006;30:1472-1477.
  24. Clinical Infectious Diseases September 1 2002;35(Suppl 1):S6-S16
  25. Applied and Environmental Microbiology, 2004;70(11):6459-6465
  26. Journal of Medical Microbiology October 2005;54:987-991
  27. Archivos venezolanos de puericultura y pediatrĂ­a 2006; Vol 69 (1): 19-25.
  28. Gastroenterology. 2005:128 (Suppl 2);Abstract-303

Vaccine Epidemicby Louise Kuo Habakus and Mary Holland J.D.
Vaccine Epidemic bookcover New Published Study Verifies Andrew Wakefields Research on Autism   Again
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Single dose of century-old drug approved for sleeping sickness reverses autism-like symptoms in mice

Date:
June 17, 2014
Source:
University of California, San Diego Health Sciences

Summary:
In a further test of a novel theory that suggests autism is the consequence of abnormal cell communication, researchers report that an almost century-old drug approved for treating sleeping sickness also restores normal cellular signaling in a mouse model of autism, reversing symptoms of the neurological disorder in animals that were the human biological age equivalent of 30 years old.
This image depicts the transmission electron micrograph of a cell mitochondrion.
Credit: Thomas Deerinck, NCMIR, UC San Diego
In a further test of a novel theory that suggests autism is the consequence of abnormal cell communication, researchers at the University of California, San Diego School of Medicine report that an almost century-old drug approved for treating sleeping sickness also restores normal cellular signaling in a mouse model of autism, reversing symptoms of the neurological disorder in animals that were the human biological age equivalent of 30 years old.
The findings, published in the June 17, 2014 online issue of Translational Psychiatry, follow up on similar research published last year by senior author Robert K. Naviaux, MD, PhD, professor of medicine, pediatrics and pathology, and colleagues.
Naviaux said the findings fit neatly with the idea that autism is caused by a multitude of interconnected factors: "Twenty percent of the known factors associated with autism are genetic, but most are not. It's wrong to think of genes and the environment as separate and independent factors. Genes and environmental factors interact. The net result of this interaction is metabolism."
Naviaux, who is co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego, said one of the universal symptoms of autism is metabolic disturbances. "Cells have a halo of metabolites (small molecules involved in metabolism, the set of chemical processes that maintain life) and nucleotides surrounding them. These create a sort of chemical glow that broadcasts the state of health of the cell."
Cells threatened or damaged by microbes, such as viruses or bacteria, or by physical forces or by chemicals, such as pollutants, react defensively, a part of the normal immune response, Naviaux said. Their membranes stiffen. Internal metabolic processes are altered, most notably mitochondria -- the cells' critical "power plants." And communications between cells are dramatically reduced. This is the "cell danger response," said Naviaux, and if it persists, the result can be lasting, diverse impairment. If it occurs during childhood, for example, neurodevelopment is delayed.
"Cells behave like countries at war," said Naviaux. "When a threat begins, they harden their borders. They don't trust their neighbors. But without constant communication with the outside, cells begin to function differently. In the case of neurons, it might be by making fewer or too many connections. One way to look at this related to autism is this: When cells stop talking to each other, children stop talking."
Naviaux and colleagues have focused on a cellular signaling system linked to both mitochondrial function and to the cell's innate immune function. Specifically, they have zeroed in on the role of nucleotides like adenosine triphosphate (ATP) and other signaling mitokines -- molecules generated by distressed mitochondria. These mitokines have separate metabolic functions outside of the cell where they bind to and regulate receptors present on every cell of the body. Nineteen types of so-called purinergic receptors are known to be stimulated by these extracellular nucleotides, and the receptors are known to control a broad range of biological characteristics with relevance to autism, such as impaired language and social skills.
In their latest work, Naviaux again tested the effect of suramin, a well-known inhibitor of purinergic signaling that was first synthesized in 1916 and is used to treat trypanosomiasis or African sleeping sickness, a parasitic disease. They found that suramin blocked the extracellular signaling pathway used by ATP and other mitokines in a mouse model of autism spectrum disorder (ASD), ending the cell danger response and related inflammation. Cells subsequently began behaving normally and autism-like behaviors and metabolism in the mice were corrected.
However, the biological and behavioral benefits of suramin were not permanent, nor preventive. A single dose remained effective in the mice for about five weeks, and then washed out. Moreover, suramin cannot be taken long-term since it can result in anemia and adrenal gland dysfunction.
Still, Naviaux said these and earlier findings are sufficiently encouraging to soon launch a small phase 1 clinical trial with children who have ASD. He expects the trial to begin later this year.
"Obviously correcting abnormalities in a mouse is a long way from a cure in humans, but we think this approach -- antipurinergic therapy -- is a new and fresh way to think about and address the challenge of autism.
"Our work doesn't contradict what others have discovered or done. It's another perspective. Our idea is that this kind of treatment -- eliminating a basic, underlying metabolic dysfunction -- removes a hurdle that might make other non-drug behavioral and developmental therapies of autism more effective. The discovery that a single dose of medicine can fundamentally reset metabolism for weeks means that newer and safer drugs might not need to be given chronically. Members of this new class of medicines might need to be given only intermittently during sensitive developmental windows to unblock metabolism and permit improved development in response to many kinds of behavioral and occupational therapies, and to natural play."
Co-authors are Jane C. Naviaux, Michael A. Schuchbauer and Susan B. Powell of the UCSD Department of Psychiatry; Kefeng Li and Lin Wang, UCSD Mitochondrial and Metabolic Disease Center and UCSD Department of Medicine; and Victoria B. Risbrough, UCSD Department of Psychiatry and San Diego Veterans Affairs Center for Excellence in Stress and Mental Health.
Funding for this research came, in part, from the Jane Botsford Johnson Foundation, the National Institutes of Health (grant MH091407), the UCSD Christini Fund, the Wright Family Foundation and the It Takes Guts Foundation.

Story Source:
The above story is based on materials provided by University of California, San Diego Health SciencesNote: Materials may be edited for content and length.

Journal Reference:
  1. J C Naviaux, M A Schuchbauer, K Li, L Wang, V B Risbrough, S B Powell, R K Naviaux. Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapyTranslational Psychiatry, 2014; 4 (6): e400 DOI: 10.1038/tp.2014.33

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