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BIOMEDICAL

TREATMENT OF THE
YOUNG ADULT WITH
AUTISM SPECTRUM
DISCORDER
Presented by
Michael W. Elice, M.D. and
Barbara Fischkin

AutismOne, May 2009, Chicago, IL


What is ASD?
Asperger’s

SOCIAL
Pervasive Developmental Delay

Autism
BEHAVIORAL LANGUAGE

Attention Deficit Disorders


DSM IV Diagnostic Criteria
for Autistic Disorder
 Impairment in Social Interaction
-Impairment in the use of nonverbal behavior
-Lack of spontaneous sharing
-Lack of social/emotional reciprocity
-Failure to develop peer relationships
 Impairment in Communication
-Delay in or lack of development of spoken language &
gestures
-Impairment in the ability to initiate or maintain
conversation
-Repetitive and idiosyncratic use of language
-Lack of pretend play
 Restricted Repertoire of Activity and Interests
-Preoccupation with restricted patterns of interest
-Inflexible adherence to routines
Increase in Autism Incidence
45
40
35
30
Incidence per 10,000

Autism
25
Epilepsy
20
Mental Retardation
15
10
5
0
1950 1965 1980 1994
Year of Birth
Autism ---- rising
incidence
1/2000 prior to 1970
1/500 1996
1/166 2005
1/150 2007
And increasing…………….now
thought to be 1/80 – 1/100
What is Autism?
 A complex array of gene-environment
interactions
 This demands a rigorous evaluation to search
for the unique disease markers that help us
understand each child’s individual needs
 There is NO usual autism treatment
 Only one FDA approved intervention for the
agitative, aggressive affects of autism –
Risperadone
 Beyond this, NOTHING ELSE!
 Resources of mainstream medicine are
oriented to behavioral therapy, NOT
BIOMEDICAL
Disorders Associated
with ASD
 Obsessive Compulsive Disorder
 Oppositional Defiant Disorder
 Tourette’s Syndrome – Tic
Disorder
 PANDAS
 Bi-Polar Disorder
 Metabolic Disorders
 Mitochondrial Disorders
Find the Source

Assess the Underlying Causes


 Maldigestion/Malabsorption
 Dysbiosis
 Infection
 Inflammation
 Intestinal Permeability (leaky
gut)
 Immune dysfunction
 Food Intolerance/ Allergies
Albert Einstein:

“If we knew
what we were
doing, it
wouldn’t be
called research.”
BIOMEDICAL THERAPIES
3. ELIMINATION DIET

2. ALLERGY TESTING

3. ESSENTIAL FATTY ACID/COD LIVER OIL

4. VITAMINS/MINERALS

5. DIGESTIVE ENZYMES

6. METHYL COBALAMIN, FOLINIC ACID, TMG, NAC

7. AUTOIMMUNE THERAPY

8. CHELATION

9. ANTIFUNGALS AND ANTIANEROBICS

10. INTRAVENOUS GAMMA GLOBULIN

11. HYPERBARIC OXYGEN


Daniel Mulvaney, age
21 years
Lived in Mexico City and Hong Kong
with parents, Barbara and Jim,
journalists
 Age 3 years – febrile illness with
temp of 106 degrees, otitis
media. Hospitalized for
dehydration
Symptoms:
 Loss of interest in other children
 Chewing on clothes
 Shredding
 Loss of expressive language
 Loss of interest in toys
 Loss of toileting skills
 Increase in temper tantrums
More Symptoms and
Interventions:
 PICA – ate glass in playground
 Hearing test – positive
 Starts BOCES early childhood with
ABA, vitamin therapy
 Luvox, Risperdal to control
‘violent behavior’
 2005 – 2 grand mal seizures, EEG
inconclusive, MRI - normal
Dan meets Dr. Elice,
November, 2007
Age 20 years
 Mouthing – pica, biting
 Head pain requiring head compression
 Hands move up and down, flapping
 Ear flapping
 Enjoys being upside down
 Prefers to lie down to compress abdomen
 Affectionate
 Transitions well
 Gets very close to people
 Clomps feet
 Lateral gaze
 Occasional crooked smile
 Obsesses on rope – uses as a lariat
Dan’s Medical History
 Product of Barbara’s first
pregnancy
 Pitocin induced labor – failure to
progress
 Born in Mexico City
 Developmental milestones all on
target
 Fully immunized without reactions
Dan’s Medical History
 Diet – craved vegetables, lettuce,
sushi and fish
 BM’s – loose, frequent, foul
smelling,
greenish/brown color, 4-5
times/day
- Respiratory: frequent coughing
- Skin – “chicken skin” red faced
- Sleep – terrible!
Family History
 Rosacea  Asperger’s
 Urticaria Syndrome
 Gout  ADD
 ADD  Thyroiditis
 Arthritis  Colitis, ulcers
 Alcoholism  Seasonal allergies
 Cardiovascular  Colon cancer
disease  Breast cancer
 ADM
 MS
 Alzheimers Disease
Lab Investigation
Complete Blood Count w/ differential and platelet count,
ESR
Serum Metabolic Assay (Complete)
Thyroid Profile (T3, T4 and TSH), AutoAntibodies
Amino Acid Profile, Plasma
Methylenetetrahydrofolate Reductase (MTHFR)
Organic Acid Profile, Urine
Ammonia Level
Lactic Acid Level (Lactate)
Pyruvic Acid Level (Pyruvate)
Folic Acid, Homocysteine, Vit B1, B6, B12, D3 levels
Heavy Metal Profile (Lead, Mercury, Arsenic and
Cadmium), Blood
Antigliadin Antibodies and Transglutaminase (Celiac Panel)
Measles, Mumps and Rubella, all vaccine antibody titers
Chromosome Analysis (include Fragile X), genomic array
analysis
IgG, IgA, IgM, IgE levels
IGG Subclasses
B and T cell function tests
Myelin basic protein and neural axon filament antibodies
ASLO and Anti Dnase Antibodies
Dan’s Lab Results
NEGATIVE RESULTS POSITIVE RESULTS
Folic acid: elevated  LFT’s: within normal
MTHFR: + mutation, A and limits
C sites  B12, B6, B1: within
Ammonia: elevated normal limits
Herpes Simplex I: +  Amino acids: within
antibodies normal limits
Strep B: + antibodies; ASO  Plasma catecholamines:
and antiDNAse B normal
Serologic immunity to  Pyruvate, lactate,
mumps and rubella BUT insulin, homocysteine:
NOT measles normal
Epstein Barr Virus: +  Antigliadin Antibodies:
antibodies negative
Laboratory Investigation
Hair analysis for metals
8 years old
Elevated:
- aluminum
- cadmium
- lead
- mercury
- silver
- uranium
- titanium
“Association of MTHFR
Gene Variants with
Autism”

Marvin Boris, M.D., Allan Goldblatt,


P.A.,
Joseph Galanko, PhD., S. Jill James,
PhD.

J. Of Physicians and Surgeons. 9:4.


Winter Edition, 2004
MTHFR
Methyl Cobalamin (B12)
 Alterations in this pathway can induce chronic metabolic
imbalances. Data indicates that these alterations occur
frequently in ASD children.
 Vitamin B12 is an essential cofactor for this pathway. B12
deficiency is well known to have neuropsychiatric
consequences in adults and adversely affect
neurodevelopment during infancy. Therefore, the abnormal
metabolic profile observed in a significant proportion of
autistic children suggests the possibility that the behavioral
features characteristic of these children could be a
manifestation of a genetically based systemic metabolic
derangement.
 Methyl cobalamin inhibits the toxic effect of mercury on the
development of nerve fibers and glial cells. This explains
why the administration of injectible methyl cobalamin has
resulted in many of these children becoming more aware of
the environment, starting to speak and acting like other
children
MTHFR ASSOCIATED
DISEASES
 NEURAL TUBE DEFECTS
 CARDIOVASCULAR
 CEREBRAL VASCULAR
 INFLAMMATORY BOWEL DISEASE
 CANCER- COLORECTAL, GI
 LEUKEMIA
 MULTIPLE PSYCHIATRIC
DISORDERS
Biomedical
Interventions
 Dan starts on vitamin, mineral, antioxidants,
probiotics and essential fatty acids
 Methyl cobalamin (B12) injections
 Dan is allowed gluten, casein
 Dan is told to avoid corn syrup,
preservatives, dyes and fast food, where
ingredients/preparation is unknown
 Prescription medications:
– Haldol
– Luvox
– Tenex
– Zonisamide
Clinical Observations
 Enuresis – decreases
 Bowel movements decrease in
frequency from 8 to 2 per day
 Attention – increases – Dan goes
to the movies and sits for 1 hour
45 minutes
 Dan plays ice hockey with
increased concentration
Next: more biomedical
 Addition of folinic acid and N-acetyl
cysteine to methyl cobalamin
injections
 PANDAS protocol, per NIMH studies –
induction with 5 days of prednisone
followed by penicillin, 1 gram daily
 Actos (PPAR gamma agonist)
 Celebrex (COX-2 enzyme inhibitor)
 Diamox (carbonic anhydrase inhibitor)
Clinical Observations
 Increased concentration
 Prompted use of words, says “Hi” without
prompt
 GI – now 1-2 bowel movements/day, formed
and normal appearance
 Increased interaction with other adults
 Sleep is uninterrupted by urination; he is dry
at night
 No longer appearing to have headaches
 Summer camp – Dan gets “raves” – staff
cannot believe how his behavior has changed
Who is Dan?

After 6 months of biomedical


intervention, his primary care
pediatrician says “he looks like a
different person!”
One year later………

 Increased concentration, now on Face Book


communicating with 130 “friends”
 Health is excellent
 GI and GU all functioning normally
 Haldol is discontinued without psychotic
behavior or sleep disruption
 Nemenda (glutamate receptor antagonist) is
added due to increase in bizarre motor
behavior, e.g. hands in mouth, walking with a
list to one side, strange finger movements
and inability to perform tasks previously
mastered
Plan for Dan
 Continue the immune support
 Heavy metal detoxification
(chelation)
 Hyperbaric Oxygen Therapy
 Intravenous Gamma Globulin
(IVIG)
WHY CHELATE?
Mercury
 Epidemic trends in ASD in the 1990’s
 Thimerosal – an ethylmercury
compound
added to vaccines
 Increase in the number of vaccines
given to infants and toddlers
 All these vaccines add up to as much
as 200 micrograms in the first 6
months!
 In 1999 AAP requires thimerosal to
be removed from all pediatric
vaccines ASAP
 Remaining thimerosal containing
vaccines expired by 2003
 Thimerosal still present, in very
Mercury: What can it
do?

 Increases oxidative stress


 Decreases glutathione production
 Increases inflammatory cytokines
 Causes cell death
 Accumulates in brain, liver, and
other organs
What about Lead?
 Lead is ubiquitous in our environment – 4-5
million tons have been deposited in the
environment from car exhaust alone
 It can be found in the water, air, soil and dust
 Ingestion occurs by hand to mouth
transmission
 80% of lead poisoned children can be
asymptomatic
 Lead has a half life in the body of 20 years!
 Lead exposure can result in neurological
damage, learning and behavioral problems
and lowered intelligence
 Fetal exposure to lead affects
Symptoms of Metal
Poisoning
 Emotional lability, irritability, behavioral changes
 Poor focus and attention
 Hyperactivity
 Loss of developmental milestones, language delay
 Learning delays
 Criminal, delinquent behavior
 Abdominal pain, loss of appetite, vomiting,
constipation
 Headache, ataxia,
 Lethargy, somnolence, seizures, stupor, coma
 Muscle weakness
 Impaired fine motor coordination
 Visual-spatial impairment
 Hearing defects, auditory processing problems
 Delayed growth
Other Toxins:
Aluminum

- no physiologic need
- ability to cross blood brain barrier
enhanced by fluoride
- found in vaccines
- inhibitor of Magnesium, calcium and iron
- increases oxidative stress
- decreased glutathione
- increases lipid peroxidation
- synergistic with mercury to increase toxicity
exponentially
- deposited in brain, bone, muscle, kidney
Other Toxins:
Organic Pollutants
– Phthalates, pesticides, herbicides, PCB’s,
Bisphenols
– Difficult to detox, stored in fat, cord blood,
breast milk
– Tiny doses may interfere with hormonal
signals that regulate human organs,
development and metabolism
– NO SAFE LEVELS!
– DNA damage
– Carcinogenic
– Neurotoxic
– Damage sperm
– Allergies, asthma, diabetes, heart disease,
Vicious cycle of
toxicity

Increased damage Environmental


from toxins Toxins

Impaired
Detoxification
Heavy Metal
Detoxification
(the politically correct
term for Chelation)
 Testing for toxic metal exposure
 Chelation agents
- DMSA
- DMPS
- EDTA
- D-penicillamine
 Maintain adequate levels of glutathione
 Maintain adequate levels of vitamins and
minerals
 Continue checking urine for metals until
excretion levels are significantly reduced
Clinical Response to
Chelation of Lead
 Improved eye contact
 Decreased hyperactivity
 Emerging language; words and
sentences
 Decreased scripted language,
echolalia
 Improved GI function
 Improved skin, hair, nails
 Markedly improved learning abilities in
school
HYPERBARIC
OXYGEN THERAPY
Hyperbaric Oxygen Therapy
 Dates back to 1662
 Therapeutic uses:
- wound healing
- GI disease
- Infectious diseases
- Migraine syndromes
- Sleep disorders
- Peripheral vascular disease
- Stroke
- Brain injury
- Rheumatoid Arthritis
- Chronic fatigue syndrome
- Multiple sclerosis
- Parkinson’s Disease
And……………………………………………………………
Hyperbaric Oxygen
Therapy
 Autism
 Autistic Spectrum Disorders
Hyperbaric oxygen therapy may improve symptoms in autistic children.
Med Hypotheses. 2006; 67(2):216-28 (ISSN: 0306-9877) Rossignol DA;
Rossignol LW

• neuroinflammation and increased oxidative stress


• decreased cerebral perfusion confirmed by SPECT and
PET scans
• temporal regions of the brain related to speech, language
and auditory processing
• HBOT is successful in known hypoperfusion syndromes
- cerebral palsy
- fetal alcohol syndrome
- closed head injury
- stroke
• HBOT can normalize oxygen concentration in ischemic
tissues
• HBOT has potent anti-inflammatory effects by reducing
oxidative stress
Hyperbaric Oxygen
Therapy
 Oxygen is our primary source of
energy
 Oxygen:
- promotes immune support
- destruction of toxins
- promotes new cell growth
- displaces harmful free radicals
- destroys harmful bacteria,
parasites
and other microbes
- enhances absorption of vitamins,
minerals, amino acids, and other
Hyperbaric Oxygen
Therapy
RESULTS
 Statistically significant changes in
autistic symptoms, such as:
- language
- eye contact
- interactive play
- cognition
- improved GI function
- improved health and physical
behavior
Intravenous Gamma
Globulin (IVIG)
Therapy
Improvement in children with autism treated with
intravenous gamma globulin
Marvin Boris MD;  Allan Goldblatt PA-C; Stephen M.
Edelson PhD
Journal of Nutritional & Environmental Medicine,
Volume 15, Issue 4 December 2005 , pages 169 - 176

Purpose. Immune dysfunction has been associated


with children with autism. One study found a
beneficial response of intravenous gamma globulin
(IVIG) therapy in autistic children. The present study
further evaluated the administration of IVIG to these
children.

Results. The participants' overall aberrant behaviors


decreased substantially soon after receiving their first
dose of IVIG. Further analysis of the total scores
revealed decreases in hyperactivity, inappropriate
IVIG
Conclusions. Significant
improvement occurred in autistic
children receiving monthly IVIG.
There is a reasonable rationale
considering the risk/reward ratio
to utilize IVIG therapy in children
with autism. A well-controlled
placebo double-blind study would
be important to further clarify the
use of IVIG in autism and its
duration of benefits
It’s not a sprint… it’s a
MARATHON!
 Do NOT sprint! Pace yourselves
 Pace your bodies, your spirits, your finances
 There will be hills and valleys
 Never be complacent with what you achieve
 Always celebrate the milestones achieved
 As hard as it is for us, it is harder work for our
children.
Conclusions

 Autistic Spectrum Disorders are


being diagnosed in epidemic
rates
 They are not genetic disorders
 They are medical disorders of the
immune system with genetic
predisposition
 There are environmental triggers
that may initiate the symptoms
 Biomedical intervention does help
Why Bother Doing This
With a 20 Year Old??
 Why not??
 You may have tried everything else!
 Your child will enjoy life
 You will enjoy life more
 They may live up to their full potential
 Less burden on support staff
 Better residential placement
 They may attain an independent
lifestyle!

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