BIOMEDICAL

Diagnosis Autism: Now What?

A Simplified Biomedical
Approach
By Dan Rossignol, MD, FAAFP

Dan Rossignol, MD, FAAFP received his Doctorate of
Medicine at the Medical College of Virginia and completed
his residency in family medicine at the University of Virginia
(UVa). He is a former clinical assistant professor of family
medicine at UVa and is currently a staff physician at the
International Child Development Resource Center. He is the
father of two children with autism. He has authored several
papers including two on the use of HBOT in autism, one
on the use of urinary porphyrins in autism, and another on
mitochondrial dysfunction in autism. He is a medical advisor
to the International Hyperbarics Association and USAAA,
and is currently involved in research to find treatments for
inflammation, oxidative stress, gastrointestinal problems and
heavy metal toxicity in autism.

I
n 2002, my older son, Isaiah, was
diagnosed with autism. At the time
I had been practicing as a family
physician for about five years. Prior to
his diagnosis, Isaiah loved to get down
on the floor and spin objects, and I
thought it was cool, so I helped him. He
also used to shake his hands back and
forth in the air for hours. When I tried
to shake my hands like him, I tired out
in a couple of minutes. I couldn’t figure
out how he could do it for hours! He had
a significant speech delay and walked
very late. However, despite all of these
problems, I did not have a CLUE that he
had autism. I remember when my wife and
I went to his psychological evaluation to
determine what was wrong with him. He
was evaluated by a pediatric neurologist
and several psychologists, and we spent
the morning with him during the testing.
We were then told to go to lunch while
the team met to determine a diagnosis.
I remember as we sat in McDonalds
eating French fries and cheeseburgers
that my wife and I discussed that maybe
the team would say he had “autistic
tendencies.” It was quite a shock to
us when Isaiah was actually diagnosed
with autism! For the first year after his
diagnosis, my wife started looking into
biomedical treatments, which I considered
“quackery.” I remember asking some
pediatric neurologists about the gluten-
free/casein-free (GF/CF) diet and being
told that NO evidence existed in the
medical literature as to whether or not
this diet worked. When I finally realized
that I needed to look into the medical
literature for myself, I discovered some
studies which reported that the GF/CF
diet appeared to be beneficial in some
children with autism1,2 . Shortly after
this, my second son, Joshua, was also
diagnosed with autism. I now realize that
God allowed us to have two children with
autism to give me a new career (taking
care of children with autism) and to give
us the ability to help other parents who
also have children with autism.
Now that I look back on things, I realize
that we (me more so than my wife) wasted
precious time because I didn’t know what
to do for my child. And I am a physician,
and my wife is a nurse practitioner!
Fortunately, there are currently many
resources available to parents of a child
with autism such as websites, books, and
conferences. However, navigating through
all of these possibilities can be daunting.
The purpose of this article is to empower
you, as a parent of a child with autism, by
providing a starting point for biomedical
treatments for your child.
Initially, the diagnosis of autism or
other forms of autism, such as pervasive
developmental disorder-not otherwise
specified (PDD-NOS, also called high-
functioning autism or mild autism), will
generally come from a developmental
pediatrician or a neurologist. Most
neurologists will perform genetic testing
(including chromosomal analysis and
checking for fragile X syndrome), an
MRI scan (to exclude some type of brain
structural problem), and an EEG (to look
for seizure activity). An EEG is especially
important because newer studies are
reporting that about 60% or more of
children with autism have subclinical
seizure activity (subclinical means that
you are not aware of this seizure activity)
3,4
. We find significant improvements,
especially in speech, in some children
with autism when we treat seizures with
medication.
After the initial diagnosis, there
are specific laboratory tests that can
be very helpful in either checking for
other medical conditions (that could be
exacerbating the autistic behavior) or
defining underlying biomedical problems.
Since autism is diagnosed based upon
examination of the child’s behavior, the
actual diagnosis does not point to the
underlying cause(s) of the disorder. We
find that some of the core problems in
autism include toxicity (including elevated
levels of heavy metals, pesticides,

8 THE AUTISM FILE | www.autismfile.com REPRINTED WITH PERMISSION © THE AUTISM FILE ISSUE 32 2009
and other chemicals)5,6 , inflammation
(potentially in the gastrointestinal tract
and brain)7-9, oxidative stress (damage
to tissue caused by free radicals, which
are neutralized by antioxidants such as
vitamins C and E)10, impaired glutathione
production (which is the body’s main
natural detoxifier and antioxidant)10, and
impaired mitochondrial function (which
are responsible for producing ATP, or
energy)11. An in-depth discussion of
each of these biomedical problems is
beyond the scope of this article, but we
will review simple laboratory tests and
nutritional supplementation that any
parent of a child with autism could start
and which could potentially alleviate these
problems and improve autistic behaviors.

Initial laboratory testing:

In many cases, a physician will need to order these tests for you.
The Complete Blood Count (CBC) and Comprehensive Metabolic Panel (CMP) check
for anemia, platelet count (a high count is consistent with inflammation), and liver and
kidney function.
Thyroid. We find a significant number of children with autism who have hypothyroidism,
which can mimic some of the symptoms of autism and impair development. A simple
blood test called TSH can check for this problem.
Initial treatments:
Iron deficiency can cause inattention and concentration problems12. Low iron is There are certain treatments that parents
also linked to lowered IQ13. Iron supplementation in children with attention deficit can use to help improve certain behaviors
hyperactivity disorder (ADHD) who have low iron levels has been shown to improve in children with autism (and ADHD). The
attention compared to a placebo 14 , and iron supplementation in children with autism has
ideal treatment would be one that is well-
been shown to improve sleep15.
studied, proven to be effective compared
Ammonia and lactic acid are initial tests that can help determine if mitochondrial to a placebo, not too expensive, safe and
dysfunction exists, which can lead to low energy production and hypotonia (low muscle tolerable, and can be done at home. Not
tone)11 and is potentially treatable with supplements like coenzyme Q10 and L-carnitine. many nutritional supplements fit into this
Cholesterol. A cholesterol count less than 145 mg/dl in typical children has been shown category but several do. Many of these
to increase defiance and irritability and increase the chances of school suspension by supplements are antioxidants that help to
three-fold16. Supplementation with cholesterol in some children with autism may be lower oxidative stress, which is a common
beneficial 17. finding in both ADHD27 and autism18. With
Cysteine is the precursor to glutathione and is the rate-limiting step for glutathione the use of an evidence-based medicine
production. Low levels of cysteine reflect impaired glutathione production or increased approach, parents can get started with
glutathione utilization due to oxidative stress18. some simple biomedical treatments based
Lead has been shown in some studies to contribute to autistic behaviors in some upon the above laboratory testing and/
children19,20. An elevated blood lead level reflects ongoing exposure and should prompt or the child’s behaviors. For example,
an investigation to find possible sources of lead in the house or environment. if oxidative stress is elevated, then
Magnesium has a calming effect, and lower levels have been found in children with antioxidants can be added. If a child has
ADHD21 and autism22. Magnesium supplementation can decrease hyperactivity23 and an attention problem, then supplements
improve certain autistic behaviors22. or dietary changes could be made that
Testosterone. A small percentage of children with autism have elevated testosterone24 , have been shown to improve attention.
which can lead to aggression.
The organic acid panel (OAT) is a specialized test that can measure markers of yeast, Diet: Several studies have shown
Clostridia, and other markers such as vitamin levels and mitochondrial function. improvements in certain autistic
Urinary porphyrin concentrations can reflect increased heavy metal or pesticide levels behaviors, such as social isolation,
in the kidney and are markers of the metal burden in the body5. communication, and overall behavior,
Urinary neopterin is a marker of inflammation and tends to reflect autoimmunity in with the use of a gluten-free/casein-free
some children with autism25. Elevated neopterin often predicts positive responses to diet1,2,28. Food additives, colorings, and
anti-inflammatory treatments. preservatives can increase hyperactivity
Urinary oxidized DNA and RNA are markers of oxidative stress inside the cell26 , and in typical children 29, so avoiding these
children with elevated levels often have improvements with antioxidants. products can be helpful. In children with
autism, testing for food allergies and
Urinary isoprostane is a marker of oxidative stress outside the cell26. Again, antioxidants
can be helpful when this is elevated. eliminating reactive foods has been shown
to improve certain autistic behaviors 30. An
Stool testing can check for the presence of inflammation, dysbiosis (increased levels of
organic diet can be helpful in eliminating
yeast and abnormal bacteria), digestion, and absorption.
pesticide exposures in children 31.

ISSUE 32 2009 REPRINTED WITH PERMISSION © THE AUTISM FILE www.autismfile.com | THE AUTISM FILE 9
 BIOMEDICAL
A ketogenic diet can be helpful in some
children with autism32 . It should be noted
that the use of specialized diets should
be closely monitored by a physician or
nutritionist.
Sleep: If this is a problem, I usually start
with trying to improve sleep because
autistic behaviors are usually worsened
with sleep deprivation33. One recent study
revealed a defect in the ASMT gene that
resulted in less melatonin production in
some children with autism (this defect
was also found in some of the parents)34.
Several studies have shown improvement
in sleep with the use of melatonin in
autism35,36 and ADHD37. Melatonin at
doses of 1-3 mg at bedtime is safe.
Multivitamin: A general moderate-dose
multivitamin has been shown to improve
sleep and gastrointestinal problems in
children with autism when compared to a
placebo38.
Vitamin C: In a double-blind, placebo-
controlled study, vitamin C (about 100
mg/kg) was shown to reduce stereotypical
behavior (stimming) in individuals with
autism compared to a placebo39.
Methylcobalamin and folinic acid: Two
studies have reported some improvements
in certain autistic behaviors with the
use of subcutaneous methylcobalamin
injections (75 mcg/kg, requires a
prescription) and oral supplementation
of folinic acid (400 mcg twice a day)10-40.
Methylcobalamin can also be given orally.
Zinc: Deficiency has been correlated
with inattention in children with ADHD41.
Zinc deficiency has also been reported in
autism42 . In one study of 400 children,
the use of zinc sulfate (150 mg/day that
provided 40 mg/day of elemental zinc)
was shown to improve ADHD symptoms
compared to a placebo43.
Magnesium and vitamin B-6: The use
of these (given together) has been shown
to improve autistic behaviors, including
social interaction, communication, and
stereotypical behaviors22 , and improve
hyperactivity in some children44. Typical
doses are: magnesium at 6 mg/kg/day
10 THE AUTISM FILE | www.autismfile.com REPRINTED WITH PERMISSION © THE AUTISM FILE
and vitamin B-6 at 0.6 mg/kg/day22;
sometimes higher doses are used under
physician supervision.
Pycnogenol: This has been shown to
increase glutathione levels in children
with ADHD45, decrease oxidative stress 46 ,
and improve attention, coordination,
concentration, and hyperactivity
compared to a placebo47. A typical dose is
1-2 mg/kg/day.
Carnitine: Deficiency has been described
in some children with autism48 and can
impair mitochondrial function11. In one
study of children with Rett syndrome,
L-carnitine significantly improved
sleep efficiency, energy level, and
communication49. Carnitine has also
been shown to improve attention and
aggression in children with ADHD50 as
well as lessen hyperactivity51. Generally,
we use 50-100 mg/kg/day of L-carnitine
or Acetyl-L-carnitine (preferring the latter
as it penetrates into the brain better).
Carnosine: This has strong antioxidant
properties and also has been shown
to decrease seizure activity. In one
study, L-carnosine (400 mg twice a day)
improved speech and social behavior
compared to a placebo in children with
autism52 .
Omega-3 fatty acids: Deficiency has
been shown to increase hyperactivity,
conduct problems, anxiety, and temper
tantrums in typical children53. Infants
not receiving omega-3 fatty acid
supplementation in breast milk or infant
formula are about 2-4 times more likely
to develop autism54. Several studies have
demonstrated improvements with the use
of omega-3 fatty acids in children with
developmental coordination disorder55,
ADHD56 , and autism57,58. Omega-3 fatty
acids can also have anti-seizure effects
[59]. I usually recommend about 800 mg
of EPA and 800 mg of DHA (sometimes
higher), which is the approximate
dose used in a recent double-blind
placebo-controlled study of children
with autism showing improvements in
hyperactivity and stereotypical behavior58.
I also generally recommend starting
antioxidants before omega-3 fatty acid
supplementation.
Even though these treatments are
available without a prescription, it is best
to be under a physician’s supervision when
using these supplements and implementing
significant dietary changes. Furthermore, a
physician may be required to obtain certain
laboratory tests and methylcobalamin
injections. However, the supplements listed
in this article are generally well-tolerated
and can be helpful in improving certain
behaviors in children with autism and
ADHD. I would recommend sitting down
with your child’s physician to discuss these
potential treatment options. May God bless
you and your child as you journey together
towards improvements and, I pray, eventual
healing.
Table 1
Doses of antioxidants and other
supplements (based on the studies
reviewed):
Vitamin C: 100 mg/kg/day
Acetyl-L-carnitine: 50-100 mg/kg/day
L-carnosine: 200-400 mg twice a day
Pycnogenol: 1-2 mg/kg/day
Methylcobalamin injections: 75 mcg/
kg 2-3 times per week
Folinic acid: 400 mcg twice a day
Omega-3 fatty acids: approx. 800
mg/day EPA and approx. 800 mg/day
DHA
Zinc: 20-40 mg/day of elemental zinc
Melatonin: 1-3 mg, 30 minutes before
bedtime
Magnesium: 6 mg/kg/day
Vitamin B-6: 0.6 mg/kg/day
ISSUE 32 2009
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11