Autism Research: Breakthrough Discovery on the Causes of Autism

[Guest guest]

Mark Hyman, MD

Practicing physician

Posted: December 11, 2010 11:37 AM

Autism Research: Breakthrough Discovery on the Causes of Autism

Imagine being the parent of a young child who is not acting normally and being

told by your doctor that your child has autism, that there is no known cause,

and there is no known treatment except, perhaps, some behavioral therapy. That

is exactly what 's parents were told as their 22-month-old son regressed

into the non-verbal psychic prison of social withdrawal, disconnection, and

repetitive behaviors typical of autism.

While we don't have all the answers, and more research is needed to identify and

validate the causes and treatment of autism, there are new signs of hope. A

study just published in The Journal of the American Medical Association by

researchers from the University of California, called " Mitochondrial

Dysfunction in Autism " (i) discovered a profound and serious biological

underpinning of autism -- an acquired loss of the ability to produce energy in

the cells, damage to mitochondria (the energy factories in your cells), and an

increase in oxidative stress (the same chemical reaction that causes cars to

rust, apples to turn brown, fat to become rancid, and skin to wrinkle). These

disturbances in energy metabolism were not due to genetic mutations, which is

often seen in mitochondrial problems, but a condition the children studied

acquired in utero or after birth.

Bottom line, if brain cells cannot produce enough energy, and there is too much

oxidative stress, then neurons don't fire, connections aren't made and the

lights don't go on for these children. In fact, this problem of energy loss is

found in most chronic disease and aging -- from diabetes to heart disease to

dementia. Brain function and neurodevelopment in particular are highly dependent

on energy.

This is exactly the problem, I documented and found in when I first saw

him. He had a profound loss of energy in his cells (particularly his brain

cells), and indicators of severe oxidative stress. This is the same problem many

other researchers have found in similar studies. (ii) Despite the evidence, most

physicians don't test for mitochondrial dysfunction, oxidative stress or other

myriad factors commonly found in autistic children.

Let's look more closely at what this new study in The Journal of the American

Medical Association tells us about mitochondrial dysfunction, and how this may

lead us to new methods of treatment -- methods similar to the ones I used to

help reverse 's autism.

Autism: Brain Disorder or Body-Based Biological Illness?

The big debate (iii) that ranges in autism circles is about whether or not

autism is a fixed, irreversible brain-based genetic disorder, or a systemic,

reversible body-based biological condition that has identifiable causes,

measurable abnormalities, and treatable dysfunctions. In other words is autism a

life sentence or a reversible condition?

Many studies have illuminated the causes and possible treatments for autism, but

mainstream physicians or scientists ignore most of this data. This new study,

breaks new ground because it was published in one of the world's major medical

journals.

In it researchers from UC examined children two to five years of age from

the Childhood Autism Risk From Genes and Environment (CHARGE) study in

California -- a population-based, case-control investigation with confirmed

autism cases and age-matched, genetically unrelated, typically developing

controls, that was launched in 2003 and is still ongoing. What they discovered

was the aforementioned mitochondrial dysfunction that lead to problems with

energy. Interestingly, these abnormalities were not found in neurons on a brain

biopsy but from examining white blood cells called lymphocytes. This means the

energy deficit was a systemic problem -- not one residing solely in the brain.

This study forces the question: How do children acquire energy deficits that

affect their whole system, not just the brain?

The causes of mitochondrial dysfunction are well known, specifically as it

relates to metabolism and the brain, and I have documented them in my books

" UtraMetabolism " and " The UltraMind Solution. " They include environmental toxins

(iv) -- mercury, lead and persistent organic pollutants(v) -- latent infections,

gluten and allergens (which trigger inflammation) sugar and processed foods,(vi)

a nutrient-depleted diet(vii) and nutritional deficiencies.(viii) These are all

potentially treatable and reversible causes of mitochondrial dysfunction that

have been clearly documented.

I found all these problems in , and over a period of two years we slowly

unraveled and treated the underlying causes of his energy loss which included

gut inflammation, mercury, and nutrient deficiencies. Over time, the tests for

his mitochondrial function and oxidative stress (as well as levels of

inflammation and nutrient status) all normalized. When they became normal, so

did . He went from full-blown regressive autism to a normal, bright

beautiful six-year-old boy.

What it Means if Autism Can be Reversed

This is just one story, but if autism can be reversed in one child, if there is

any possibility of effective treatments or a potential cure, it forces us to ask

critical questions: How did this happen? Can it happen in other children? What

were the biological patterns found and how were they treated?

The emotional and financial costs of autism for families and societies is

staggering. Now one in five -- or 20 percent -- of children have some

neurodevelopmental disorder. How can we sidestep our scientific and moral

obligation and sit back and accept the limited resources allocated by the

National Institutes of Health ($5.1 billion for cancer, but only $141 million

for autism) and society as a whole.

Most neurodevelopmental disorders have common roots. But looking at only one

aspect of such conditions will not solve the problem of autism. Current autism

research is based on an outdated approach -- one that is something like blind

men examining the proverbial elephant. Each researcher works in his or her own

silo examining different factors and coming to different conclusions. Research

that integrates, synthesizes and examines all the data on causes and potential

treatments is practically non-existent.

The mitochondrial dysfunction identified in the JAMA study I've been talking

about is ultimately only one downstream symptom of many upstream causes. Other

researchers have found systemic inflammation,(ix) brain inflammation,(x) gut

inflammation,(xi) elevated levels of toxins and metals, gluten and casein

antibodies,(xii) nutrient deficiencies including omega-3 fats,(xiii) vitamin

D,(xiv) zinc, and magnesium, and collections of metabolic dysfunction related to

quirky genes that make it difficult to perform chemical reactions essential for

health in the body such as methylation and sulfation.(xv)

The take home message here is that the answer to autism and other

neurodevelopmental disorders will not be found in one of these factors, but in

all of them taken together in varying degrees in each individual. There is no

such thing as " autism. " Rather there are " autisms " -- different patterns of

biological dysfunction unique to each child that result in multiple insults to

the brain that all manifest with symptoms we call autism.

Future research must synthesize current data and design relevant whole systems

research studies that don't focus on a single factor, but examine all the

factors together. Then we must apply these findings in a comprehensive fashion,

as is being done by many practitioners today who work in parallel -- rather than

in collaboration with -- conventional approaches and often achieve remarkable

results.

To close, I'd like to share 's story, as told by his father. I have

documented this case report in a peer reviewed published paper which you can

read if you are interested in the details of the case.(xvi) It is called

" Autism: Is it All in the Head? " and it can be found at http://drhyman.com.

But more important than my paper is 's story and his beautiful smile.

WATCH:

What do you think about a comprehensive approach to autism treatment? Do you

think autism is " all in the head " or a systemic disorder that can be reversed?

Do you have an autism story to share yourself? Please leave your thoughts or

your story by adding a comment below.

To your good health,

Mark Hyman, MD

References

(i) Giulivi, C., Zhang, Y.F., Omanska-Klusek, A., et al. 2010. Mitochondrial

dysfunction in autism. JAMA. 304(21):2389-96.

(ii) Haas, R.H. 2010. Autism and mitochondrial disease. Dev Disabil Res Rev.

16(2):144-53.

(iii) Herbert, M. 2005. Autism: A brain disorder or a disorder that affects the

brain. Clinical Neuropsychiatry 2(6): 354-379

(iv) Landrigan, P.J. 2010. What causes autism? Exploring the environmental

contribution. Curr Opin Pediatr. 22(2): 219-25. Review.

(v) Kern, J.K., Geier, D.A., , J.B., et al. 2010. Toxicity biomarkers in

autism spectrum disorder: A blinded study of urinary porphyrins. Pediatr Int.

Jul 4 Epub ahead of print.

(vi) Feillet-Coudray, C., Sutra, T., Fouret, G., et al. 2009. Oxidative stress

in rats fed a high-fat high-sucrose diet and preventive effect of polyphenols:

Involvement of mitochondrial and NAD(P)H oxidase systems. Free Radic Biol Med.

46(5): 624-32.

(vii) Dufault, R., Schnoll, R., Lukiw, W.J., et al. 2009. Mercury exposure,

nutritional deficiencies, and metabolic disruptions may affect learning in

children. Behav Brain Funct. 27(5): 44.

(viii) Ames, B.N. 2004. A role for supplements in optimizing health: the

metabolic tune-up. Arch Biochem Biophys. 423(1): 227-34. Review.

(ix) Careaga, M., Van de Water, J., and P. Ashwood. 2010. Immune dysfunction in

autism: a pathway to treatment. Neurotherapeutics. 7(3): 283-92. Review.

(x) Li X., Chauhan, A., Sheikh, A.M., Patil, S., et al. 2009. Elevated immune

response in the brain of autistic patients. J Neuroimmunol. 207(1-2): 111-6. Jan

20 Epub ahead of print.

(xi) Ashwood, P., , A., Torrente, F., and A.J. Wakefield. 2004.

Spontaneous mucosal lymphocyte cytokine profiles in children with autism and

gastrointestinal symptoms: mucosal immune activation and reduced counter

regulatory interleukin-10. J Clin Immunol. 24(6): 664-73.

(xii) Jyonouchi, H., Sun, S., and N. Itokazu. 2002. Innate immunity associated

with inflammatory responses and cytokine production against common dietary

proteins in patients with autism spectrum disorder. Neuropsychobiology. 46(2):

76-84.

(xiii) Bell, J.G., MacKinlay, E.E., Dick, J.R., et al. 2004. Essential fatty

acids and phospholipase A2 in autistic spectrum disorders. Prostaglandins Leukot

Essent Fatty Acids. 71(4): 201-4.

(xiv) Cannell, J.J. 2008. Autism and vitamin D. Med Hypotheses. 70(4): 750-9.

(xv) , S.J., Melnyk, S., Jernigan, S., et al. 2006. Metabolic endophenotype

and related genotypes are associated with oxidative stress in children with

autism. Am J Med Genet B Neuropsychiatr Genet. 141B(8): 947-56.

(xvi) Hyman, M.A. 2008. Autism: is it all in the head? Altern Ther Health Med.

14(6): 12-5.

Mark Hyman, M.D. is a practicing physician, founder of The UltraWellness Center,

a four-time New York Times bestselling author, and an international leader in

the field of Functional Medicine. You can follow him on Twitter, connect with

him on LinkedIn, watch his videos on YouTube, become a fan on Facebook, and

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