The
April 2007 issue of Discover Magazine provides a survey of the
current thinking on biomedical aspects of autism.
Below are some highlights from this article.
In
December, 2006, billion dollars was been approved in research
through the Combating Autism Act (one can only hope this money
will actually find its way to scientists on the cutting edge of
autism research). In the meantime, research is turning up
intriguing clues including abnormal tissue in the intestinal
tract, inflammation in the brain, food allergies, and asynchronous
brain wave patterns. There continues to be an emphasis on
funding research which continually attempts to put the blame on
genetics and disprove the connection between vaccines and
autism. Ironically these studies seem to be leading instead
to the conclusion that there may be an interaction between
vulnerable genes and environmental triggers, along with a growing
sense the low-dose exposure to multiple toxins and environmental
stressors may also contribute to autism. The genetic
research has lead to the current theorizing that autism may be
releated to common gene variants, called polymorphisms, that may
be derailed by environmental triggers. Genes affected by
environmental triggers (such as vaccines) may disturb fundamental
metabolic pathways in the body and lead to chronic, inflammatory
conditions in the brain, immune system, and digestive system.
The
article includes the current statistic of 1 in 166 children being
diagnosed per live births in the U.S. With four times as
many boys as girls diagnosed, this would theoretically bring the
incidence of boys diagnosed with an autism spectrum disorder in
the United States to at least 1 in 50.
IThe
official description and prognosis for autism given by the medical
establishment and major autism organizations that children are
born with autism and that it is incurable. In spite of this,
evidence to the contrary is accumulating that children are not
necessarily born with autism and a small, but significant
number of children are recovering from autism - and countless more
are improving significantly. "In spite of so many years
of assumptions that a brain disorder like this is not treatable,
we're helping kids get better. So it can't just be genetic,
prenatal, hardwired, and hopeless," says Harvard pediatric
neurologist Martha Herbert, author of a 14,000-word paper in the
journal of Clinical Neuropsychiatry. "I no longer see
autism as a disorder of the brain, but as a disorder that affects
the brain," Herbert says. "It also affects the
immune system and the gut.. . .What I believe. . .is that genes
and environment interact. . .changing celluar function all over
the boty, which then affects tissue and metabolism. . .And it's
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."
In a
2005 study, Carlos Pardo, a neurologist from Johns Hopkins, found
inflammation in immune responsive brain cells of autistic
patients. According to Pardo, "We had brain tissue from
autistic individuals as young as 5 and as old as 45 and we found
neurological inflammation in all of them. . . We're very excited
about this research because one potential treatment approach is. .
.to downregulate the brain's immune response." Pardo is
collaborating on a pilot study with the National Institutes of
Health (NIH) to test minocycline, an anti-inflammatory antibiotic
drug on autistic children. "Minocycline is a very selective
downregulator of microglial inflammation," he says.
"Neurologists already use it in multiple sclerosis and
Parkinson's."
According
to Pat Levitt, director of the Vanderbilt Kennedy Center for
Research on Human Development, a gene called MET doubles the risk
of autism. MET modulates the nervous system, but and
immune system. According to Levitt, "This gene is
important for repair of the intestine and immune function.
And that's really intriguing because a subset of autistic children
have digestive and immune problems." This gene variant
occurs in 47% of the population - making it just one contributing
factor.
Jill
James, director of the Autism Metabolic Genomics Laboratory at
Arkansa Children's Hospital, has found that many children with
autism do not make enough of the anti-oxidant, glutathione, which
is critical for removing toxins from the body. In her 2006
study, published in the American Journal of Medical Genetics, she
found that common gene variants that support the glutathione
pathway may be associated with autism risk. This pathway is
linked metabolically to the methylation pathway. Methylation
helps regulate which genes are expressed; abnormal methylation can
cause disease. James found that this metabolic disfunction
is treatable when targeted with nutritional intervention.
James has tracked 8 autistic children who were taking supplements
of key nutrients in the methylation pathway - folinic acid,
trimethylglycine, and methyl B12 - and found a significant
increase in important markers of methylation and glutathione
synthesis. James and her colleagues received a 2 million
dollar grant from NIH, part of which will be devoted to sorting
out the relationship between metabolism, genes and behavior.
James
says, "We also plan to look at mitochondria
dysfunction," she says. "Since mitochondria are
the energy powerhouses of the cell, they're also the place where
the free radicals (which play a role in oxidative stress) are
produced. If the electron transport chain in the
mitochondria is faulty and you're not efficiently making ATP,
you'll produce more free radicals and deplete your glutathione.
If this hypothesis turns out to be correct, we can give nutrients
like Coenzyme Q10, magnesium, and acetyl-L-carnitine to help
stabilize the mitochondria. Now this is just a hypothesis,
but this is the risk you take with science. You make your
best guess and you carry out your study and you see."
In
December 2006, Harvard researchers announced in the Lancet that
industrial chemicals may be impairing brain development in
children around the world.
Also
included is the epidemiological study in Texas of the correlation
of increased incidence of autism in areas near major polluters
(including mercury spewing coal-fired power plants).
This
article also provides a survey current therapies being used to
treat autism, including chelation (binding and removal of heavy
metals from the body). I highly recommend obtaining the
article and reading it in full.