Autism Made Easy - The Star Academy · Autism: Redefining The Problem Old Perspective • Genetic...
Transcript of Autism Made Easy - The Star Academy · Autism: Redefining The Problem Old Perspective • Genetic...
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Autism Made Easy Why Do We Do What We Do?
Peta Cohen, MS., RD.Star Academy
Cape Town, Nov 2011
www.PetaCohen.com
Autism: A Behaviorally Defined Disorder
DSM-IV Criteria for Autistic Disorder (299.0)
1. Impaired social interaction
2. Impaired social communication
3. Markedly restricted repertoire of activities and interests
Biology is not part of the definition
Credit: Martha Herbert
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ASD – Whole Body, Multi-system Disorder
Leo Kanner, 1943• Case 1: “Eating has always been a problem for him. He has never shown a normal
appetite.”• Case 2: .…large and ragged tonsils.• Case 3: ….diarrhea and fever following smallpox vaccination….healthy except for
large tonsils and adenoids.• Case 4: ….vomited a lot during his first year….feeding formulas were changed
frequently….tonsils were removed….• Case 5: ….nursed very poorly….quit taking any kind of nourishment at three
months….tube-fed five times daily up to one year of age….At camp she slipped into avitaminosis and malnutrition but offered almost no verbal complaints.
• Case 7: ….vomited all food from birth through the third month….• Case 8: ….feeding formula caused ….concern….colds, bronchitis, streptococcus
infection, impetigo….• Case 9: ….none of the unusual children’s diseases (overactive immune system?)• Case 10: ….frequent hospitalizations because the feeding problem….repeated cols
and otitis media….• Case 11: ….was given anterior pituitary and thyroid preparations for 18 months
Credit: Brian Jepson
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Systems Dysfunction: Your Own Case Study
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Autism: A Behaviorally Defined SyndromeBiology is not part of the definition (and neither is prognosis)
DSM-IV Criteria for Autistic Disorder (299.0)
1. Impaired social interaction
2. Impaired social communication
3. Markedly restricted repertoire of activities and interests
Secondary Features of Autism• Seizures (~30%+), cognitive deficits, sensorimotor abnormalities, savant skills,
immune impairments, GI distress(50-75%), food allergies (~50+%)
No biological markers exist to identify autism at this time
Autism is presumably Heterogeneous biologically
But autism is biological
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Credit: Martha Herbert
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Autism: Redefining The Problem
Old Perspective
• Genetic Disorder• Neurobehavioral Disorder• Autism is a hard wired• Fridge Mother Philosophy• Static Encephalopathy• Brain Disorder
New Perspective
• Epigenetic Phenomenon• Complex – Whole Body, Multi-
System, Metabolic Disorder– Many targets for simultaneous
treatments• Biological Heterogeneity• Chronic Dynamic
Encephalopathy• Disorder that Affects the Brain• Autism is treatable, recovery is
possible
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Credit: Martha Herbert
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Autism- A Whole Body, Multi-System,
Metabolic Disorder
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SNPs - Epigenetics
Systems
Cellular Metabolic
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Autism- A Whole Body, Multi-System,
Metabolic Disorder
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Nervous System
SNP – Single Nucleotide Polymorphisms, Epigenetics
Gastro-Intestinal System
Immune System
Eco- System/Microbiome
Respiratory System
Endocrine System
Cardiovascular System
Oxidative Stress
Inflammation
Excitation
Mitochondrial Dysfunction
pH Balance/Redox Status
Impaired Methylation
Impaired Trans-Sulfuration
Impaired Detoxification
Nutrient Insufficiencies/Excess
Cerebral Folate Deficiency
Genomics ���� Proteomics ���� Metabolomics
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Autism- A Whole Body, Multi-System,
Metabolic Disorder
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Systems
Methylation Transulfuration
Redoxstatus
Biotransformation
Oxidative
StressInflammation
Mitochondrial
Function
Excitation
SNPs – Single Nucleotide Polymorphisms
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Autism- A Whole Body, Multi-System,
Metabolic Disorder
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Stressors
Function Dysfunction -
Systemic &
Metabolic
Feed Forward
genetics immunity
GI biotransformation
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Stress
Multiple Routes of Exposure
– Environmental• Chemical/Toxic• Infections• Sensory
– Psychological• Perception/Experience• Thoughts• Emotions
– Physiological• Structural • Trauma• Pain • Excess exercise• Poor sleep
– Metabolic• Nutritional – calories:
Insufficient/excess/imbalanced
• Oxidative stress• Chronic inflammation• Hypoxia/Impaired aerobic
energy metabolism
– Biological• Retention toxicity• Biofilm
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Systems Dysfunction in ASD
• GastroIntestinal
• Immune
• Nervous System
• Endocrine
• Biotransformation/Detoxification
• Microbiome/Biome
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Digestive Tract
“Health Begins in the Mouth
..Dis-ease Begins in the Gut”
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GastroIntestinal System
Some Basic Facts• Extends 30 feet from mouth to anus• Largest area is the small intestine which is approximately
25 feet in length• Small intestine surface area is the equivalent of a tennis
court• Small intestine is primary sight of digestion, absorption
and assimilation• Small intestine is the port of entry into the internal part of
the body• The GI tract is supported by 3 accessory organs
– Pancreas, liver and the gallbladder
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GastroIntestinal System cont…
• The function of the digestive tract is ingestion, digestion, absorption, elimination
• Two types of digestion– Mechanical and chemical
• Digestion is pH dependent and relies on the activity of digestive enzymes
• The GI hosts 70 – 80% of the body’s total immune system– GALT, MALT– 80% of the total IgG
• The GI hosts approximately 100 trillion organisms• The GI hosts the enteric nervous system
– Ninety-five percent of the body’s serotonin levels are produced in the GI
• The GI is connected to the CNS via the vagal nerve• First pass at detoxification takes place in the GI tract
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GI Dysfunction in ASD
• Picky eaters– Sensory– Limited choices
• Oral sensory issues– Seeking– Avoidance
• Poor oral motor planning• Dysmotility
– Reflux– Delayed gastric emptying– Constipation– Diarrhea
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GI Dysfunction in ASD cont…
• Maldigestion– CHO
• Malabsorption– Fat
• Chronic Inflammation– Esophagitis, gastritis
– ILNH
• Increased Permeability – “Leaky Gut”
• Dysbiosis– Bacterial, fungal
• Biofilm
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Immune System
• Differentiates the “self” from the “non-self”• Surveillance and Defense
– Surveillance• Mucosal membranes• SIgA
– Defense– Macrophages, NK cells, cytotoxic T cells
• Innate – TH1– Primitive response– Virus, fungus, cancer cells
• Acquired/Humoral – TH2– Antibody response– Memory
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Immune System cont…
• Inflammation– Central part of the healing response
– Redness, swelling, heat, pain
– Mediated through the release of pro-inflammatory
cytokines, prostaglandins etc.
• Hypoactivation– Infection, cancer
• Hyperactivation– Allergies, autoimmunity
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Immune Dysregulation in ASD
• Chronic Recurrent Infection– Bacterial
– Viral
– Fungal
• Allergies/Sensitivities– Seasonal
– Food allergies
– Delayed food sensitivities
• Hyperactivation of the Innate Immune System– Elevated Neopterin
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Immune Dysregulation in ASD cont…
• Chronic Inflammation– GastroIntestinal
– ENT
– Brain
• Autoimmunity– PANDAs
– Celiac
– Brain antibodies
– Other antibodies
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Inflammation
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Nervous System
Types• Central nervous system
– Brain, spinal cord• Astrocytes, neurons, microglia
• Enteric Nervous System– More neurons than the CNS– Glial cells regulate gut barrier integrity
• Autonomic Nervous System– “Fight or Flight”
Functions• Perception – Processing -- Response• Memory/retrieval• Attention/focus• Sensory
– sight, hearing, touch, smell, taste
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Nervous System Dysfunction in ASD
• Cognitive delays
• Dysautonomia– Chronic “fight or flight”
– Self-stimulatory behavior
• Perseveration/repetitive behavior
• Anxiety, irritability, aggression
• Seizures
• Subclinical discharges
• Sensory integration disorder
• Attention deficit/hyperactivity
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Autonomic Nervous
System
“Fight or Flight”
Response
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The Nervous System
Excitation
Glutamate Activation of the NMDA Receptor
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Endocrine System
Glands that produce hormones
• Pancreas– Insulin
• Adrenal– Cortisol
– Progesterone
• Thyroid– T4, T3
• Gonads– Estrogen, testosterone
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The Endocrine
System
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Endocrine Dysfunction in ASD
• Dysglycemia/dys-insulinism– Hyper/hypoglycemia
• Hypothyroid
• Failure to thrive
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Biotransformation/Detoxification
Some Basic Facts
• Primarily a function of the liver and secondly the kidney
• Process that transforms toxins produced internally or
acquired externally and prepares them for elimination
• Two step process that must be balanced to be effective
• First step is genetically determined, but can be influenced
by diet and nutrients
• Second step is metabolic, relies on an adequate supply of
amino acids and other molecules
• By products of detoxification is a production of free
radicals (ROS)
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Biotransformation-Detoxification
Phase I and II Detoxification
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Detoxification Dysfunction in ASD
• Imbalanced detoxification
• Impaired detoxification– Retention toxicity
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Microbiome/Biome
Microbiome• Human body hosts approximately 100 trillion organisms
– Located all over the body, but concentrated in the gut
• Various types– Probiotics
• Lactobacillus, Bifido, E-Coli• Produce SCFA, Biotin, vitamin K, • Participate in digestion
– Symbiotics– Opportunistic organisms
• C. Diff., Candida, Pseudomonas,
– Pathogens
Biome• Interaction between the immune system and the microbiome
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Microbiome/Biome Dysfunction in ASD
• Dysbiosis– Bacterial
• Clostridia
• Other bacteria
– Fungal• Candida
• Other species
• Biofilm– Bacterial
– Fungal
– Viral
– Parasites
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Biofilm
• Chronic persistent infections
• Hydrated polymeric matrix
• Calcium and iron used for attachment
• Calcium, magnesium and iron used to create stability,
integrity
• Fibrin used to create stability and integrity
• Many organism in the biofilm shed their outer
membranes
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Biofilm
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Cellular and Metabolic Dysfunction
• Oxidative stress
• Chronic inflammation
• Excitation
• Impaired methylation
• Impaired transulfuration
• Altered redox status
• Inadequate biotransformation/detoxification
• Mitochondrial dysfunction
• Cerebral folate deficiency
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Molecular Medicine
“Almost all aspects of life are engineered at the molecular level.
Without understanding molecules, we can only have a very sketchy
understanding of life itself.”
Francis Crick, PhD (1916-2004)Co-discoverer of DNA double helix
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Oxidative Stress
• A persistent imbalance between production of highly
reactive molecular species (ROS & RNS) and antioxidant
defenses
• Free radical exposure can come from both exogenous and
endogenous sources
• Oxidative damage to DNA in humans occurs at a rate of
approximately 10,000 to 10,000,000 hits per cell per day
• Chronic oxidative stress leads to chronic inflammation,
mitochondrial dysfunction, neuronal
amplification/potentiation, cell membrane damage,
DNA/RNA damage, tissue damage, and cell death
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Endogenous Sources of Oxidative Stress
• Mitochondrial aerobic respiration– Decreased function leads to increased free radical
production
• Hyperglycemia – Increased mitochondrial superoxide production
• By-product of biotransformation– Intermediate of Phase 1 detoxification
• Response to microbial immune attack– Oxidative burst
• Consequence of tissue ischemia– Up-regulation of xanthine oxidase
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Exogenous Causes of Oxidative Stress
• Pharmaceutical drugs– Acetaminophen, anticonvulsants, chemotherapy
• Ionizing radiation– Ultraviolet, X-rays, radon
• Air pollutants– Tobacco smoke, carbon monoxide, ozone
• Environmental toxins– Pesticides, solvents, charbroiled meats, heavy metals
• Dietary– Excess calories, rancid fats, trans-fats, refined/artificial
sugars, artificial dyes/flavors/preservatives
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Free Radicals Can Be:
• Beneficial– Critical cell signaling molecules
– Regulators of intracellular redox pathways
– Initiators of adaptive stress response (NRF2 activators)
• Detrimental– Inflammatory triggers and/or mediators (NFKB activators)
– A direct cause of cytotoxic tissue damage
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ATP Production
• Electron
Transport
Chain
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Credit: Dr. Ji ll James
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Credit: Dr. Ji ll James
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Credit: Dr. Ji ll James
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Methylation -- Transulfuration
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Credit: Dr. Ji ll James
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Credit: Dr. Ji ll James
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NrF2
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The Need for Change
“ This we know: The earth does not belong to man;
man belongs to the earth. All things are connected.
Whatever befalls the earth befalls the sons of the
earth. Man does not weave the web of life, he is
merely a strand in it. Whatever he does to the web,
he does to himself.”
Chief Seattle, 1855
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Credit: Martha Herbert
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Dietary Intervention and Foundational
Supplementation. Why Do We Do What We Do?
• Clinical research results
compared to statistical
analysis of empirical
evidence.
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Autism Made EasyWhy Do We Do What We Do?
Thank You
Peta Cohen, MS., RDTotal Life Center
11 North Dean Street
Englewood, NJ 07631
201-541-7601
www.petacohen.com
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