Overview of Autism

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Overview of Autism
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Overview

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

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

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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.

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Personal background

• (presenter enter your background)

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

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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)

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How do they diagnose full-syndrome?

• 1. DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC
  DISORDER AT LEAST TWO OF THE FOLLOWING
• 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

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How do they diagnose full-syndrome?

• 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 )

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How do they diagnose full-syndrome?

• 2. DIAGNOSTIC CRITERIA FOR 299.00 AUTISTIC
  DISORDER AT LEAST ONE OF THE FOLLOWING
• 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

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How do they diagnose full-syndrome?

• 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
• 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

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How do they diagnose full-syndrome?

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

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How do they diagnose full-syndrome?

• Delays or abnormal functioning in at least one of
  the following areas, with onset prior to age 3
  years
• social interaction
• language as used in social communication
• symbolic or imaginative play
• D. The disturbance is not better accounted for by
  Rett's Disorder

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How do they diagnose Asperger Syndrome?

• 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?

• (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)

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How do they diagnose Asperger Syndrome?

• (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.

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Diagnostic tools

• Autism Diagnostic Interview Revised
  (ADI-Revised) 2-4 hour interview with parents
  of childs 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

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Early onset vs. regression
Source Autism Research Institute
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Genetic or environmental cause?

• Studies of identical twins reveal
• 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

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Which Genes?

• Many genetic studies of autism, but they
  generally disagree too few subjects and too many
  genes
• Probably 10-20 genes involved in complex manner
• Translational Genomics (TGen) plans largest study
  ever (1000 subjects)
• In two similar conditions, Fragile X and Retts
  Syndrome, a single gene has been identified for
  each

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Which Environmental Causes?

• No general agreement
• Possible causes with limited scientific data
  include
• 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

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Rapid increase in incidence

• 1970s 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 41
  boygirl 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?

• 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?)

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Prognosis?

• Two major lifetime studies
• Autism 90 of adults unable to work, unable to
  live independently,
• 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

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Autism is TREATABLE!

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

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Behavioral therapies

• ABA most widely accepted/implemented evidence
  based well documented results
• Pivotal Response Training
• Carbone method
• Floortime
• RDI

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Applied Behavior Analysis (ABA)

• 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,
  40-hour/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.

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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 childs 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)

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Other Evidence-Based Therapies

• Speech Therapy
• Occupational Therapy/Physical Therapy
• Physical Therapy
• Sensory Integration
• Auditory Integration Therapy (AIT)
• Vision Therapy
• Prism lenses
• Irlen lenses

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Rationale for the Biomedical ApproachEndorsed by
ARI/DAN!

• 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

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Improving the Diet

• 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

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Detecting Food Allergies

• Look for
• Red cheeks
• Red ears
• Dark circles under eyes
• Changes in behavior
• Keep a diet log
• Look for patterns between symptoms and foods
  eaten in the last 1-3 days
• Order IgE and IgG blood tests
• IgE related to an immediate immune response
• IgG relates to a delayed immune response.

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 Jun7(3)151-61.
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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 doesnt break down. This is
  different from a food allergy. Large proteins
  like gluten and casein cause problems in the
  bloodstream.
• Recommendations
• 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

Autism Network for Dietary Intervention
www.autismndi.com
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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.

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Methylcobalamin

• RationaleMethyl-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.
• RecommendationsMB-12 is only by prescription.
  For approximately 85 of children 64.5
  mcg/kg/every 3 days works well.

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Giving High Dose Vitamin B6 Mg

• Rationale Over 20 studies on efficacy of B6
  with Magnesium
• 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.
• Magnesium helps curtail hyperactivity caused by
  B6 alone.
• Recommendations
• 8 mg/pound of vitamin B6 (maximum of 1000 mg)
• 4 mg/pound magnesium

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Using Essential Fatty Acids Fish Oil, etc.

• Rationale
• Most people in the US do not consume enough
  omega 3s. Two studies found that children with
  autism have lower levels of omega 3 fatty acids
  than do typical children.
• Recommendations
• 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

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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
• 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

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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
  doesnt break down.
• Recommendations
• 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.

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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
• Probiotics 30-500 billion CFUs
• Antifungals Nystatin, Diflucan
• Low-sugar diet
• Stool analysis for gut bacteria/yeast

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

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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

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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.
•  
• 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.
•  
•  

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Glutathione Deficiency

• Rationale
• Studies show low glutathione (critical
  antioxidant) in children with autism due to
  abnormalities in their methionine pathway.
• Recommendations
• 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.

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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
  bodys ability to excrete mercury.

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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
  15214(2)99-108.
• Treatment DMSA (FDA-approved for lead
  poisoning in infants) or DMPS. See DAN! consensus
  report at www.autismresearchinstitute.com

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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
• 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)

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Take Home MessageAutism 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.