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one Autism 11

one Autism 11

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Published by: api-3714923 on Oct 18, 2008
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Autism: It\u2019s Not Just in the Head

The devastating derangements of autism also show up in the gut and in the
immune system. That unexpected discovery is sparking new treatments
that target the body in addition to the brain.

by Jill Neimark
03.22.2007, Discover Magazine

\u201cThere were days I considered shutting the garage door and letting the car run until I was
dead,\u201d says Colorado mom Erin Griffin, of the time nine years ago when she learned that
both her boys\u2014not just her firstborn\u2014suffered froma u t i s m. Brendan, her angular, dark-
haired older child, was diagnosed in 1996 at age 4. Kyle, her round- faced, hazel-eyed
younger son, was diagnosed in 1998 at age 2\u00bd.

But Kyle and Brendan\u2019s story does not have a tragic ending. After interventions that

included occupational and speech therapy, as well as dietary change and nutritional
supplements, both boys improved significantly. Their tale of slow, steady recovery
reflects the changing landscape of autism today. The condition, traditionally seen as
genetic and originating in the brain, is starting to be viewed in a broader and very
different light, as a possible immune and neuroinflammatory disorder. As a result, autism
is beginning to look like a condition that can, in some and perhaps many cases, be

successfully treated.

That is astonishing news about a disorder that usually makes headlines because it seems
to be growing rapidly more widespread. In the United States, the diagnosis of autism
spectrum disorders hasincreased about tenfold over the past two decades, and a 2003
report by the Centers for Disease Control suggests that as many as one in every 166

children is now on the autism spectrum, while another one in six suffers from a

neurodevelopmental delay. This explosion of cases has raised countless questions: Is the increase real, is it the result of increased awareness and expanding diagnostic categories, is it due to environmental changes, or all of the above? There may be no single answer. But the public concern about autism has caught the ear of federal lawmakers. The

Combating Autism Act, approved last December, authorized nearly $1 billion over the
next four years for autism-related research and intervention.
Meanwhile, on the sidelines of that confusing discussion, a disparate group\u2014

immunologists, naturopaths, neuroscientists, and toxicologists\u2014is turning up clues that
are yielding novel strategies to help autistic patients. New studies are examining
contributing factors ranging from vaccine reactions to atypical growth in the placenta,
abnormal tissue in the gut, inflamed tissue in the brain, food allergies, and disturbed brain
wave synchrony. Some clinicians are using genetic test results to recommend
unconventional nutritional therapies, and others employ drugs to fight viruses and quell


Above all, there is a new emphasis on the interaction between vulnerable genes and
environmental triggers, along with a growing sense that low-dose, multiple toxic and
infectious exposures may be a major contributing factor to autism and its related
disorders. A vivid analogy is that genes load the gun, but environment pulls the trigger.
\u201cLike cancer, autism is a very complex disease,\u201d says Craig Newschaffer, chairman of
Epidemiology and Biostatistics at the Drexel University School of Public Health, \u201cand
it\u2019s exciting to start asking questions about the interaction between genes and
environment. There\u2019s really a very rich array of potential exposure variables.\u201d

In one way, the field seems like a free- for-all, staggeringly disordered because it is
littered with so many possibilities. But one can distill a few revolutionary insights. First,
autism may not be rigidly determined but instead may be related to common gene
variants, called polymorphisms, that may be derailed by environmental triggers. Second,
affected genes may disturb fundamental pathways in the body and lead to chronic
inflammation across the brain, immune system, and digestive system. Third,
inflammation is treatable.

\u201cI can\u2019t think of it as a coincidence anymore that so many autistic kids have a history of
allergies, eczema, or chronic diarrhea.\u201d

\u201cIn spite of so many years of assumptions that a brain disorder like this is no t treatable,
we\u2019re helping kids get better. So it can\u2019t just be genetic, prenatal, hardwired, and
hopeless,\u201d says Harvard pediatric neurologistMartha Herbert, author of a 14,000-word
paper in the journal Clinical Neuropsychiatry that reconceptualizes the universe of
autism, pulling the brain down from its privileged perch as an organ isolated from the rest
of the body. Herbert is well suited to this task, a synthetic thinker who wrote her
dissertation on the developmental psychologist Jean Piaget and who then went to medical
school late, in her early thirties.

\u201cI no longer see autism as a disorder of the brain but as a disorder that affects the brain,\u201d
Herbert says. \u201cIt also affects the immune system and the gut. One very striking piece of
evidence many of us have noticed is that when autistic children go in for certain
diagnostic tests and are told not to eat or drink anything ahead of time, parents often
report their child\u2019s symptoms improve\u2014until they start eating again after the procedure.
If symptoms can improve in such a short time frame simply by avoiding exposure to
foods, then we\u2019re looking at some kind of chemically driven \u2018software\u2019\u2014perhaps

immune system signals\u2014that can change fast. This means that at least some of autism probably comes from a kind of metabolic encephalopathy\u2014a systemwide process that affects the brain, just like cirrhosis of the liver affects the brain.\u201d

In 1943 Johns Hopkins University psychiatristLeo Kanner first described autism as a
now-famous collection of symptoms: poor social engagement, limited verbal and
nonverbal communication, and repetitive behaviors. Back then, autism was considered
rare; Kanner first reported on just 11 patients, and Johns Hopkins still has records of
about 150 patients he examined in total. Even within this small group of patients, other,
less visible symptoms were evident. In his 1943 paper, \u201cAutistic Disturbances of

Affective Contact,\u201d Kanner noted immune and digestive problems but did not include
them in the diagnosis. One reads with a shiver sentences lifted out of various case
histories: \u201clarge and ragged tonsils . . . she was tube- fed five times daily . . . he vomited
all food from birth through the third month . . . he suffered from repeated colds and otitis

media. . . .\u201d

Herbert believes that the clues linking the obvious behavioral symptoms to more basic,
but less obvious, biological dysfunction were missed early on. \u201cWhat I believe is
happening is that genes and environment interact, either in a fetus or young child,
changing cellular function all over the body, which then affects tissue and metabolism in
many vulnerable organs. And it\u2019s the interaction of this collection of troubles that leads to
altered sensory processing and impaired coordination in the brain. A brain with these
kinds of problems produces the abnormal behaviors that we call autism.\u201d

Yellow regions

(top) show the enlarged
white matter found in autism patients. Red
regions (below) show the gray matter
which is relatively smaller in autism

(Courtesy of the Center for Morphometric
Analysis, MGH-Harvard)

Herbert\u2019s full-body perspective helps make sense of the confusion surrounding the
diagnosis of autism and helps justify the increasingly common use of the plural \u201cautisms\u201d
to describe the wide variations in this disorder. As Newschaffer points out, \u201cChildren
with Asperger\u2019s syndrome certainly share a lot of the behaviors of those with more severe
autism. But is it the same disease, and is it caused by the same thing? A number of
significant features of autism are not part of the diagnostic schema right now, but
eventually, those features may end up distinguishing one causal pathway from another.
How is a child sleeping? Does he or she have gastrointestinal symptoms? By looking at
those things we may see risk-factor associations pop out that we\u2019ve never seen before.\u201d

Herbert likens autism to a hologram: \u201cEverything that fascinates me is in it. It\u2019s got
epidemiology, toxicology, philosophy of science, biochemistry, genetics, systems theory,
the collapse of the medical system, and the failure of managed care. Each child that walks

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