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					Overview of Autism

Overview
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Symptoms Incidence Genetics vs. Environment? Behavior Therapy Biomedical Testing/Treatment

These PowerPoint slides were made available from the Autism Research Institute www.Autism.com ARI’s Toll-Free Resource Call Center: 866.366.3361

A Word of Thanks
These slides were adapted with permission from a presentation developed by James B. Adams, Ph.D. Dr. Adams has a teen-age daughter with autism and is a Full Professor in the Department of Chemical and Materials Engineering at Arizona State University. Dr. Adams currently serves as president, Greater Phoenix Chapter of Autism Society of America and a Board member of the Autism Research Institute.

Personal background
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(presenter: enter your background)

This information is for educational purposes only and is not intended as medical advice. For medical assistance, please consult a knowledgeable healthcare professional

Core symptoms
Major impairments: •Social Skills/Relationships •Communication •Stereotypical Behaviors •Desire for Sameness Autism is a spectrum disorder: Autism / PDD-NOS/ Asperger Syndrome – key impairment in social skills is common to all

How do they diagnose full-syndrome?
DSM-IV Criteria for an Autism Diagnosis
DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC DISORDER

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

How do they diagnose full-syndrome?
1. DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC DISORDER – AT LEAST TWO OF THE FOLLOWING
a)

Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction
Failure to develop peer relationships appropriate to developmental level

a)

How do they diagnose full-syndrome?
c)

A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) Lack of social or emotional reciprocity (note: in the description, it gives the following as examples: not actively participating in simple social play or games, preferring solitary activities, or involving others in activities only as tools or "mechanical" aids )

d)

How do they diagnose full-syndrome?
2. DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC DISORDER – AT LEAST ONE OF THE FOLLOWING
a)

Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

b)

How do they diagnose full-syndrome?
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Stereotyped and repetitive use of language or idiosyncratic language Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

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How do they diagnose full-syndrome?
3. DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC DISORDER - AT LEAST ONE OF THE FOLLOWING
a)

Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus Apparently inflexible adherence to specific, nonfunctional routines or rituals

b)

How do they diagnose full-syndrome?
c)

Stereotyped and repetitive motor mannerisms (e.g hand or finger flapping or twisting, or complex whole body movements) Persistent preoccupation with parts of objects

d)

How do they diagnose full-syndrome?
e)

Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: 1. social interaction 2. language as used in social communication 3. symbolic or imaginative play

D. The disturbance is not better accounted for by Rett's Disorder

How do they diagnose Asperger Syndrome?
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Same Social and Behavioral Issues as Autism (III) The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning.

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How do they diagnose Asperger Syndrome?
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(IV) There is no clinically significant general delay in language (E.G. single words used by age 2 years, communicative phrases used by age 3 years)

How do they diagnose Asperger Syndrome?
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(V) There is no clinically significant delay in cognitive development or in the development of age-appropriate self help skills, adaptive behavior (other than in social interaction) and curiosity about the environment in childhood.

Diagnostic tools
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Autism Diagnostic Interview – Revised (ADIRevised): 2-4 hour interview with parents of child’s history Autism Diagnostic Observation Schedule (ADOS) – one-hour structured and unstructured interaction with child Childhood Autism Ratings Scales (CARS) E-2 Diagnostic Checklist – Parents’ checklist scored for no charge. Download pdf file from www.autism.com

Early onset vs. regression

Source: Autism Research Institute

Genetic or environmental cause?
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Studies of identical twins reveal:
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Co-occurrence is 40-80%; if 100%, then only due to genes; so genes are important, but so are unknown environmental factors 5-10% chance siblings of ASD children will have autism 25% chance of major speech delay … so carefully monitor siblings

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No straight lines from genes to behavior

Genetic vulnerability + environmental exposure
Remember: Genes alone produce proteins – not behaviors

Which Genes?
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Many genetic studies of autism, but they generally disagree: too few subjects and too many genes
Probably 10-20 genes involved in complex manner

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Translational Genomics (TGen) plans largest study ever (1000 subjects)
In two similar conditions, Fragile X and Rett’s Syndrome, a single gene has been identified for each

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Which Environmental Causes?
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No general agreement Possible causes with limited scientific data include:
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High levels of heavy metals (e.g., mercury, lead, aluminum) due to limited excretion because of low glutathione Excessive oral antibiotic usage (gut damage = poor health and neurodevelopment due to poor digestion of nutrients) Vaccine damage (especially MMR) Exposure to pesticides Lack of essential minerals (iodine, lithium) Other unknown factors

Rapid increase in incidence
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1970’s: 2-3 per 10,000 2007: 1 per 150 (U.S.); 1 per 58 (U.K.) In the U.S., affects 1 in 80 boys, since 4:1 boy:girl ratio In California (which has best statistics), autism now accounts for 45% of all new developmental disabilities YOUR STATE (get the stats from DDD if you can):  1996:  1999:  2003:  2005:

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Why rising rate of autism?
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Partly due to better awareness/diagnosis, but that is only modest effect (per study by MIND Institute) Not due to genetics – gene pool changes slowly So, primary reason is most likely increased exposure to environmental factors (mercury, antibiotics, MMR, pesticides, iodine deficiency, other?)

Prognosis?
Two major lifetime studies: Autism: 90% of adults unable to work, unable to live independently, < 1 social interaction/month

Asperger (50% with college degrees): Similar prognosis – social skills, limited use of intellectual abilities Grim prognosis if untreated, but many treatments now available, and there is MUCH more hope

Autism is TREATABLE!
Many children now greatly improve, and some even recover, due to evidence-based behavioral and/or biomedical interventions, primarily:
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Behavioral Therapies Biomedical Therapies

Behavioral therapies
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ABA – most widely accepted/implemented – evidence based – well documented results Pivotal Response Training Carbone method Floortime RDI
“Behavior is determined by its consequences.” B.F. Skinner

Applied Behavior Analysis (ABA)
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Pioneered by Dr. Ivar Lovaas at UCLA in the 1960s. Research study (1987) evaluated 19 young autistic children ranging from 35 to 41 months of age. Children received over two years of intensive, 40hour/week behavioral intervention by trained graduate and undergraduate students. Nearly half of the children improved so much they were indistinguishable from typical children, and they went on to lead fairly normal lives. Of the other half, most had significant improvements, but a few did not improve much.

ABA Today
Several variations today, but general agreement that:  Usually beneficial, sometimes very beneficial  Most beneficial with young children, but older children can benefit  20-40 hours/week is ideal  Prompting, as necessary, to achieve high level of success, with gradual fading of prompts  Therapists need proper training and supervision  Regular team meetings needed to maintain consistency  Most importantly: keep the sessions interesting to maintain child’s attention and motivation In YOUR STATE, (insert ABA policy) Example: In Arizona every child diagnosed with AUTISM (not PDD-NOS) can receive ABA services from DDD (Arizona Division of Developmental Disabilities)

Other Evidence-Based Therapies
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Speech Therapy Occupational Therapy/Physical Therapy Physical Therapy Sensory Integration Auditory Integration Therapy (AIT) Vision Therapy
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Prism lenses Irlen lenses

Rationale for the Biomedical Approach
Endorsed by ARI/DAN!
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Improve Diet Food Allergies GFCF Diet (no gluten, no casein/dairy) Vitamin/Mineral Supplements High-Dose Vitamin B6 and Magnesium Essential Fatty Acids Amino Acids Gut Treatments Thyroid Supplements Sulfation Glutathione Detoxification Anti-Viral Treatments Immune System Regulation

Improving the Diet
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Consume 3-4 servings of nutritious vegetables and 1-2 servings of fruit each day. Consume at least 1-2 servings/day of protein Greatly reduce or avoid added sugar (soda, candy, etc.) Avoid “junk food” – cookies, fried chips, etc. (even if GF/CF, etc) Greatly reduce or avoid fried foods or foods containing transfats Avoid artificial colors, artificial flavors, and preservatives Go organic
ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change Removed Sugar 2% 2% Feingold Diet 51% 45%

% Better 48% 53%

Number of Reports 3695 758

Detecting Food Allergies
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Look for:
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Red cheeks Red ears Dark circles under eyes Changes in behavior
Look for patterns between symptoms and foods eaten in the last 1-3 days IgE related to an immediate immune response IgG relates to a delayed immune response.

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Keep a diet log:
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Order IgE and IgG blood tests:
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ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change Food Allergy Treatment Rotation Diet Removed Chocolate Removed Eggs 3% 2% 2% 2% 37% 50% 49% 58%

% Better 61% 48% 49% 40%

Number of Reports 560 792 1721 1096

A study by Vojdani et al. found that many children with autism have food allergies. “Immune response to dietary proteins, gliadin and cerebellar peptides in children with autism.” Nutr Neurosci. 2004 Jun;7(3):151-61.

Allergies or not: Gluten-/Casein-free Diet
Rationale: T. Buie at Harvard Medical School found that many children with autism have defective and/or few digestive enzymes or few enzymes – means food doesn’t break down. This is different from a food allergy. Large proteins like gluten and casein cause problems in the bloodstream. Recommendations:
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Requires 100% avoidance of all gluten products and all dairy products (and often soy, corn and rice as well) Give digestive enzymes with food Caution: need calcium supplement unless on excellent diet

ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change Gluten- and Casein-Free 3% 32% Diet 2% 49% Casein-Free Diet 2% 50% Wheat-Free Diet
Autism Network for Dietary Intervention: www.autismndi.com

% Better 65% 49% 48%

Number of Reports 1446 5574 3159

Using Vitamin and Mineral Supplements
Rationale: A double-blind, placebo-controlled study (published by Adams et al.) found that a strong, balanced multi-vitamin/mineral supplement resulted in improvements in children with autism in sleep and gut function, and possibly in other areas. Recommendation: Use an allergen-free multi-vitamin. There are many formulas specifically for ASD.
ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change % Better Vitamin A CalciumE: Folic Acid Magnesium P5P (Vit. B6) Vitamin B3 Vitamin B6 alone Vitamin B6 with Magnesium Vitamin B12 Vitamin C Zinc 2% 2% 3% 6% 13% 4% 8% 4% 4% 2% 2% 58% 62% 54% 65% 37% 55% 63% 49% 33% 57% 51% 41% 36% 42% 29% 51% 41% 30% 47% 63% 41% 47% Number of Reports 618 1378 1437 301 213 659 620 5780 192 1706 1244

Methylcobalamin
Rationale: Methyl-B12 is closely allied with the folic acid biochemical pathway and is necessary for detoxification. Unfortunately, many autistic children have a defect in this enzyme. Recommendations: MB-12 is only by prescription. For approximately 85% of children 64.5 mcg/kg/every 3 days works well.

Giving High Dose Vitamin B6 + Mg
Rationale: Over 20 studies on efficacy of B6 with Magnesium:
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45-50% of children and adults with autism benefited from high-dose supplementation of B6 with magnesium. Vitamin B6 is required for production of serotonin, dopamine, and others and glutathione.

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Magnesium helps curtail hyperactivity caused by B6 alone.

Recommendations:
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8 mg/pound of vitamin B6 (maximum of 1000 mg) 4 mg/pound magnesium

Using Essential Fatty Acids – Fish Oil, etc.
Rationale: Most people in the US do not consume enough omega 3’s. Two studies found that children with autism have lower levels of omega 3 fatty acids than do typical children. Recommendations:
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Omega 3: 20-60 mg omega 3/kg-bodyweight, from fish oil Omega 6: ¼ as much omega 6 as omega 3; Evening primrose oil or borage oil

Supplementing Amino Acids
Rationale: Some children with autism have digestive problems and self-limited diets that are low in protein. This can lead to amino acid deficiency, depriving the brain of neurotransmitters, hormones, enzymes, antibodies, immunoglobulins, glutathione, etc. Recommendations:
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Test: Fasting plasma amino acids, or 24 hr urine (NOTE: unusually high levels in urine may indicate wasting) Increase protein intake Use digestive enzymes Give a customized amino acid

Using Digestive Enzymes
Rationale: T. Buie at Harvard Medical School found that many children with autism have defective and/or few digestive enzymes or few enzymes – means food doesn’t break down. Recommendations:
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A Comprehensive Digestive Stool Analysis can reveal if some types of foods are not being digested well, suggesting a problem with specific digestive enzymes. Use allergen-free digestive enzymes to aid in breaking down food and facilitation better nutrient absorption Enzymes come in capsule form (but can be sprinkled on food) Give with every meal.

ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change % Better 3% 42% 56% Digestive Enzymes

Number of Reports 737

Yeast in the Gut
Rationale:
Many anecdotal reports of yeast overgrowth in children with autism, and limited research evidence. Suspect some yeast toxins (alcohol) can have major effect on behavior/aggression.

Recommendations:
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 ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change C 5% 41% Antifungals : Diflucan 5% 46% AntifungalsC: Nystatin 57% Antibiotics (not recommended) 31%

Probiotics: 30-500 billion CFU’s Antifungals: Nystatin, Diflucan Low-sugar diet Stool analysis for gut bacteria/yeast
% Better 55% 49% 12% Number of Reports 330 986 1799

Thyroid Disorders
Rationale: Perhaps 10% of general population has low thyroid levels, and at least that many children with autism also may have that problem.
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One study found that children with autism have unusually low iodine levels Low iodine is the major cause of mental retardation worldwide (over 80 million cases) - becoming more common in US (decreased use of iodinized salt).

Recommendations:  Testing:
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Measure body temperature before waking; Measure iodine levels Thyroid test (caution re. reference ranges being too broad in some cases) Iodine supplementation if low Thyroid supplements, preferably natural animal extracts; caution re. overdosing;

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Treatment:
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Treating Thyroid Problems
Testing:  Measure body temperature before waking;  Measure iodine levels  Thyroid test (caution re. reference ranges being too broad in some cases) Recommendations:  Iodine supplementation if low  Thyroid supplements, preferably natural animal extracts; caution re. overdosing;

Treating Sulfation Problems
Rationale: Many children with autism have excess loss of sulfate in their urine, resulting in a low level of sulfate in their body. Recommendations:  Testing: Urine testing of free and total sulfate is useful to check for excessive loss of sulfate. Blood testing can be used to check for levels of free and total plasma sulfate.
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Treatments:  Oral MSM (500-2000 mg depending on size and sulfate level)  Epsom Salt (magnesium sulfate) baths – 2 cups of Epsom salts in warm/hot water, soak for 20 minutes, 2-3x/week.

Glutathione Deficiency
Rationale: Studies show low glutathione (critical antioxidant) in children with autism due to abnormalities in their methionine pathway. Recommendations:
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Testing: Measure level of glutathione (fasting plasma or RBC). Treatment: Oral glutathione is poorly absorbed (perhaps 15%). Alternatives include IV glutathione, N-acetyl cysteine, 500 mg vitamin C, DMSA therapy.

Heavy Metal Toxicity
Rationale: Low/inactive glutathione results in less excretion of mercury and toxic metals/chemicals, resulting in a higher body burden. Also, many children with autism had increased use of oral antibiotics in infancy, which alter gut flora and thereby almost completely stop the body’s ability to excrete mercury.
ARI Survey of Parent Ratings of Treatment Efficacy: % Worse % No Change 2% 22% Chelation % Better 76% Number of Reports 324

Recommendations for Detoxification
Testing: Urinary porphyrins reveal presence of mercury and other toxic metals by evaluating steps in porphyrin pathway.
Nataf et al, Porphyrinuria in childhood autistic disorder: implications for environmental toxicity. Toxicol Appl Pharmacol. 2006 Jul 15;214(2):99-108.

Treatment: DMSA (FDA-approved for lead poisoning in infants) or DMPS. See DAN! consensus report at www.autismresearchinstitute.com

Immune System Regulation
Rationale: Several studies found altered immune system in autism, generally with shift to Th-2, and some evidence for auto-immunity Recommendations:
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Treatments include: IVIG: Gupta et al., found IVIG benefited 4 of 10 children, with 1 case of marked improvement. ACTOS: Open study of ACTOS in children with autism found substantial improvements. Antiviral therapies (Valtrex, acyclovir)

Take Home Message

Autism Is Treatable
There are many individual differences among autistic individuals: A treatment that is effective for one autistic child may have little or no benefit for another autistic child.


				
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