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 25 20 15 10 5 0 1950 1965 1980 1994 Year of Birth

Incidence per 10,000

Autism Epilepsy Mental Retardation

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?
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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
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Obsessive Compulsive Disorder Oppositional Defiant Disorder Tourette’s Syndrome – Tic Disorder PANDAS Bi-Polar Disorder Metabolic Disorders Mitochondrial Disorders

Find the Source
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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:
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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:
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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
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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

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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

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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
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Rosacea Urticaria Gout ADD Arthritis Alcoholism Cardiovascular disease ADM MS Alzheimers Disease

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Asperger’s Syndrome ADD Thyroiditis Colitis, ulcers Seasonal allergies Colon cancer Breast cancer

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 Folic acid: elevated MTHFR: + mutation, A and C sites Ammonia: elevated Herpes Simplex I: + antibodies Strep B: + antibodies; ASO and antiDNAse B Serologic immunity to mumps and rubella BUT NOT measles Epstein Barr Virus: + antibodies
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POSITIVE RESULTS LFT’s: within normal limits B12, B6, B1: within normal limits Amino acids: within normal limits Plasma catecholamines: normal Pyruvate, lactate, insulin, homocysteine: normal Antigliadin 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)
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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
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NEURAL TUBE DEFECTS CARDIOVASCULAR CEREBRAL VASCULAR INFLAMMATORY BOWEL DISEASE CANCER- COLORECTAL, GI LEUKEMIA MULTIPLE PSYCHIATRIC DISORDERS

Biomedical Interventions
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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
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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

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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
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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………
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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
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Continue the immune support Heavy metal detoxification (chelation) Hyperbaric Oxygen Therapy Intravenous Gamma Globulin (IVIG)

WHY CHELATE?

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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

Mercury: What can it do?
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Increases oxidative stress Decreases glutathione production Increases inflammatory cytokines Causes cell death Accumulates in brain, liver, and other organs

What about Lead?

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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
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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 from toxins

Environmental Toxins

Impaired Detoxification

Heavy Metal Detoxification (the politically correct term for Chelation)
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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
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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

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

Hyperbaric Oxygen Therapy
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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
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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

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

Intravenous Gamma Globulin (IVIG) Therapy

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!
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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

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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??
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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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