Newer Concepts in Autism: Diagnosis, Prognosis and Medical Management
Based on Guidelines of Autism Research Institute and Defeat Autism Now (DAN) Protocol

Summary: Newer concepts in cause, genetics, management techniques, and medical interventions have been suggested to improve the quality of life of Autistic children. If detected early, they may even be cured in some cases. This page is a simplified compiled version of the matter in many pages of Autism Research I

Click here to go to Main Menu Last checked 10th March 2015 Click here to go to Autism Menu

Definition

According to the Autism Society of America, AUTISM is a severely incapacitating lifelong developmental disability that typically appears during the first three years of life. It occurs in approximately one out of every 150 births. A 2008 survey by Cambridge University in UK puts the figure at 1 in 68 children nowadays. It is now believed that a careful search will reveal 1 ASD child in every class of 50 boys, as it affects boys::girls in a ratio of 4::1

Pervasive Developmental Disorder

PDD or pervasive developmental disorder is a behavioral disorder of speech, communication, social interaction, and repetitive type compulsive behavior. Autism is a form of PDD. There are five types of PDD's. The most commonly encountered are PDD NOS (pervasive developmental disorder not otherwise specified), Childhood autism, and Asperger's syndrome. All these "different" conditions have common diagnostic and physiologic features but differ slightly by the specific diagnostic criteria.

Childhood autism

These children born apparently normal, but then begin to deteriorate by age of 1 to 2 years. The main features always presents before 36 months of age, These children may have some speech developmental and social interactive regression, usually around 18 months of age.
A recent PET Scan study of children with Autism has shown a relatively enlarged Amygdaloid Nucleus in brain that enlarges rapidly till the second year of life, and then grows at the same rate as that in normal children, while maintaining the degree of relative enlargment throughout.
The diagnosis of childhood autism must meet the specific DSM IV criteria and will therefore present with poor eye contact, pervasive ignoring, language delay, and other features.
Per definition, these children will have a severe impairment in speech, communication, or social interaction. Many of them will be completely non-verbal and "in their own world."

The Diagnostic Scenario even in US

Out of 1,300 families surveyed :

Clinically identifying children with autism

Level one

Routine Developmental Surveillance and Screening Specifically for Autism should be performed on all children. It involves first identifying those at risk for any type of atypical development, followed by identifying those specifically at risk for autism. Mental retardation or other medical or neurodevelopmental conditions require separate evaluations and are not within the scope of this session.

Level Two

Diagnosis and evaluation of Autism involves a more in-depth investigation of already identified children and differentiates autism from other developmental disorders. In-depth diagnosis and evaluation are important in determining optimal interventional strategies based on the childís profile of strengths and weaknesses.

How are conventional developmental milestones defined?

Conventional language milestones are based on normative data from standardized language instruments for infants. Failure to meet these milestones is associated with a high probability of a developmental disability. Lack of acquisition of the following milestones within known accepted and established ranges is considered abnormal:

Can autism be reliably diagnosed before 36 months of age?

There are no biological markers for autism, so screening must focus on behavior. Studies comparing autistic and typically developing children show problems with eye contact, orienting to oneís name, joint attention, pretend play, imitation, nonverbal communication, and language development are measurable by 18 months of age. Current screening methods may not identify children with milder variants of autism, those without mental retardation or language delay, such as verbal individuals with high-functioning autism and Aspergerís disorder, or older children, adolescents, and young adults.

Is there an increased risk of having another child with autism (recurrence)?

The incidence of autism in the general population is 0.2%, but the risk of having a second (or additional) autistic child increases almost 50-fold to approximately 10 to 20%.

Vitamin D Deficiency

Children with Autism are often kept safe and secure indoors, and given a milk and casein free diet, thereby depriving them of food sources of vitamin D and the ability to convert cholesterol by skin into vitamin D on exposure to sun light. Vitamin D is NOT A VITAMIN but a STEROID HORMONE, responsible for BONE FORMATION, IMMUNITY REGULATION, AND BRAIN FUNCTION INCLUDING SPEECH AND COMMUNICABILITY. Blood tests for the active metabolite of vitamin D (25-Hydroxy D3)often bring this out in many such children.

Vitamin B12 Deficiency

Indians are largely vegetarians. Unfortunately, the major source of Vitamin B12 is non-vegetarian food including milk of animal source. Milk is withdrawn in GFCF diet and the rest are taboo to such persons. As a result, Indian children with Autism have the double whammo of lower levels of total vitamin B12 along with a decreased capacity to convert some of it into the required quantitity of Methyl B12 that helps convert Homocysteine to Methionine, for brain metabolism (transcription of DNA and RNA, protein synthesis, methylation of Dopamine D4 receptors into activity, etc) and finally in Glutathione production.

Genetics

Glutamate receptor, ionotropic, N-methyl-d-aspartate 2A (GRIN2A) (chromosome 16p13) Glutamate is involved in the prefrontal-subcortical circuits and is intimately involved with the effects of dopamine on brain function; this is also the area that has been associated with some cases of autism.

Researchers funded by the National Institutes of Health have identified a gene that may predispose people to developing autism. The gene, known as HOXA1, plays a crucial role in early brain development. The study was conducted by a research team in NIH's Collaborative Programs of Excellence in Autism and was published in the December issue of "Teratology". "These findings strongly suggest that a gene controlling early brain formation may underlie the development of autism in a large number of cases," said Duane Alexander, M.D., Director of the National Institute of Child Health and Human Development (NICHD) and chair of NIH's autism coordinating committee

Tools with appropriate psychometric properties to specifically screen for autism

The Checklist for Autism in Toddlers (CHAT) for 18-month-old infants, and the Autism Screening Questionnaire for children 4 years of age and older, have been validated on large populations of children.
The Pervasive Developmental Disorders Screening Test II (PDDST-II) MAY BE USED for infants from birth to 3 years of age
The Modified Checklist for Autism for Toddlers (M-CHAT) is useful for infants at 2 years of age, and
The Australian Scale for Aspergerís Syndrome for older verbal children, was under development/validation phases.

Sensitive and specific autism screening tools for infants and toddlers have only recently been developed and this continues to be current focus of many research centers.

Screening laboratory investigations for developmental delay, with or without suspicion of autism

Formal audiologic evaluation

All children with developmental delays, particularly those with delays in social and language development, should have a formal audiologic hearing evaluation (BERA).

Lead screening

The National Center for Environmental Health of the Centers for Disease Control and Prevention recommends that children with developmental delays, even without frank pica, should be screened for lead poisoning.

DMPS Mercury Challenge Test

DMPS Mercury Challenge Test may be added to the list in future

Level one evidence-based recommendations

Siblings of children with autism should be carefully monitored for acquisition of social, communication, and play skills, and the occurrence of maladaptive behaviors. Screening should be performed not only for autism-related symptoms but also for language delays, learning difficulties, social problems, and anxiety or depressive symptoms.
Screening specifically for autism should be performed on all children failing routine developmental surveillance procedures using one of the validated instruments the CHAT or the Autism Screening Questionnaire.

Medical and Neurologic concerns in evaluating children with autism

Familial prevalence

Family studies have shown that there is a 50-to-100-fold increase in the rate of autism in first-degree relatives of autistic children.

Large head circumference without frank neuropathology

Children with autism have a larger head circumference; only a small proportion have frank macrocephaly.

Associated Conditions

Association with tuberous sclerosis complex (TSC) and less often with Fragile X (FraX) syndrome has been studied in Autism. Seventeen to over 60% of mentally retarded individuals with TSC are also autistic, and these patients commonly have epilepsy. Clinical studies report that 3% to 25% of patients with FraX have autism.

Prognosis of autism

The long-term outcome for autism is variable. This is a life long disorder that will leave its impact one way or another on the individual's life. Impairments may include I.Q. ability of the child, degree of social interaction impairment and lack of appropriate communication.
Early intervention that includes behavioral modification and speech therapy may also change the outcome positively.

Management Strategies Based on DAN Protocol (Defeat Autism Now)

Defeat Autism Now (DAN) is promoted by Autism Research Institute of USA. It is being tried in thousands of children in USA with gratifying results. It is based on Food / Lifestyle management and specific mega dose vitamins. There should be no harm trying it for 1 year along with Standard Therapy already being used.

Allergy and Immunity problems

Autistic children have many allergies to many food stuffs. They include protein of milk (Casein) and wheat (Gluten), which are often broken down incompletely to chemicals that behave like opium. The inflamed gut allows them to leak into the blood stream. Affected children become indirect opium addicts. Hence, stopping Casein and Gluten can therefore cause opium withdrawal symptoms for 4 to 6 weeks. We should bear with it since the child comes out well and starts improving after 4 to 6 weeks.

Glutathione Deficiency

Ionized Oxygen and other parts of charged molecules are called Free Radicals. They can combine abnormally with normal essential cell components to denature them. Body protects us from them with the help of Free Radical Scavengers: Glutathione, Super-Oxide Desmutase, etc.
Autistic children are grossly deficient in the Free Radical Scavenger Glutathione (made in liver). The manufacture of Glutathione requires "Methylation" in one of the steps. This is done by the "Methyl" part of Methyl-B12 vitamin. Autistic children have been shown to be deficient in MB12.
The body needs MB12 at levels to remain in blood as a flat level curve throughout the day. This is not possible by oral tablets or ordinary injections. However, if MB12 is given by a tiny concentrated subcutaneous injection into fat below the skin of the buttocks, twice a week, the resultant blood level released from the depot in the fatty tissue builds into a nearly flat curve throughout the day.

Parental Survey

With too many claims floating around, the Autism Research Institute based at San Diego, CA, USA surveyed 23700 parents to find what benefited most autistic children. The parents were asked what they had tried, and how many benefitted to how many worsened with that therapy or procedure.
This is what they found. (Data shown only where ratio greater than 10:1 in favour of benefit and the diet / procedure suitable or used in India
Drug / Procedure used in the child
No. of children who tried it
Ratio of
Benefited to Worse
Vitamin A
618
23:1
Calcium
1378
15:1
Cod Liver Oil
818
16:1
Mercury Chelation
324
31.5:1
Digestive Enzymes
737
20:1
Folic Acid
1437
12:1
Food allergy treatment
560
21:1
Vitamin B3
659
10:1
Vitamin B6 + Magnesium
5780
10:1
Vitamin Methyl B12
192
15:1
Vitamin C
1706
18:1
Zinc
1244
20:1
Gluten/Casein Free Diet
1446
20:1
Removed Chocolate
1721
30:1
Removed eggs
1096
19:1
Removed Milk/Dairy products
5574
32:1
Removed Sugar
3695
24:1

What are the vitamin / mineral supplements suggested?

Mineral Supplementations

Calcium
Zinc
Magnesium
Molybdenum,
Manganese,
Vanadium and
Chromium
but NOT Copper

Vitamin Supplements

A
D
E
C
B6: Pyridoxal 5 Phosphate / Pyridoxal HCl (different doses required)
MB12

Miscellaneous

Melatonin
Taurine amino acid
Glutathione:
Alpha Lipoic Acid

FOODS ALLOWED as per foreign and Indian sources

  1. GFCF Cereals
  2. Fruits except citrus and Canned (if in their own juice and without artificial color, sugar or preservatives)
  3. Any fresh vegetables
  4. Meats and poultry and fish from clean water sources
  5. Beverages: Water, Single herb or plain tea, honey, Grape juice, bottled Frozen apple juice, Pure pineapple juice (no corn or dextrose)
  6. Snacks: Potato chips (no additive), Pure honey, Raisins
  7. Miscellaneous: Pure honey, Homemade vinegar oil dressing, Sea salt, Pepper, Pure maple syrup, Homemade soup

PROHIBITED ITEMS

  1. Cereals with Gluten
  2. Fruits like Citrus (orange, lemon, lime, grapefruit)
  3. Vegetables
    Any frozen or canned vegetables, peas or mixed vegetables
  4. Meats
    Luncheon meats,
    Artificially dyed hamburger/meat, ham
    Dyed salmon, lobster
    Breaded meats, meats with stuffing
  5. Beverages
    Milk or dairy drink with casein or whey
    Fruit beverages except those so specified
    Coffee Rich
    7-up, Sprite, Cola, Ginger Ale
  6. Snacks
    Corn chips (Fritos) Chocolate/cocoa
    Hard candy, ice cream or sherbet
  7. Miscellaneous
    Sugar, bread, cake, cookies (except special recipes)
    Eggs, especially egg white
    Dyed (colored) Vitamins, Pills, Mouthwash, Toothpaste, Medicines.
    Cough syrups etc
    Jelly, jam, jell-o, margarine or diet spreads
    Peanut butter/peanuts in case of allergy
    Sorbitol (corn)
    Cheese
  8. Major Caution:
    Do NOT eat any food you already know causes a severe allergy.

Food list more suitable for India (There can be exceptions!!)

ALLOWED:

Strictly speaking, thus depends on the various Biochemical profiling tests, allergy and toxicological tests, blood metal profile tests, etc.. modified as per body weight, age, sex and constitution.


The Mercury in Autism Controversy

Can mercury precipitate or aggravate Autism????
What nonsense !!!!!! Say most authorities.

THEY SAY: Autistic children have very low levels of mercury, often less than even normal children, when standard materials like Hair, Blood and Urine are tested. 
So where is this @#*%$@ mercury that some people talk about ??????????????

The occult Mercury Poisoning

The prevalence of mercury in our society is endemic in nature. The association of mercury with chronic disease in the US "medical literature" exists but is very anemic. However, when searching under Toxline under the ATSDR (Agency of Toxic Substances and Disease Registry), a division of CDC, one finds all scientific literature which also includes didactic literature, NOT just the "medical literature".

The association of mercury with neurodegenerative diseases is the most significant, with the references numbering 1445.

How do we get exposed to mercury?

Increased exposure to mercury through thimerosal containing vaccines is one of the important issues at hand. Thimerosal (also known as Marthiolate) is the common name of a substance known as ethyl-mercuri-thio-salicylic acid. The overburdening knowledge that thimerosal is converted to ethyl mercury (a substance over a thousand times more destructive than inorganic mercury) in less than one minute after being introduced into the body should give great concern to those appointed to protect the public.

Damages various mechanisms which include:

Competitive and non-competitive inhibition of enzyme activity by reversibly or irreversibly binding to active sulfur, binding at the sites off and displacing other divalent cations like Mg, Zn, Cu, and Mn leading to disruption of enzyme systems, disrupting critical electron transfer reactions, and complexing molecules and inducing a change in structure or conformation which causes them to be perceived as foreign by the body's immune defense and repair system (hapten reactions) resulting in hypersensitivity that can potentiate or exacerbate autoimmune reactions.

Mercury also combines with thiol groups of certain structural elements that go to build the intracellular Microtubules in neural cells. Non-formation of these tubules leads to gross cellular dysfunctions. The severest case scenarios include the Minamata Bay disaster and two epidemics of mercury poisoning in Iraq.

Present Hypothesis

Autism Spectrum is a multi-factorial disorder. Genetic background seems to diminish infants capacity to excrete mercury ingested / injected. These two major factors may contribute to the incidence of 1:160 new born affected by Autism Spectrum Disorder.

How is mercury suspected

Holmes et at in Int. J. of Toxicology 2003

Hair mercury level was estimated in normal children and found to be 3.63 parts/million. In a simultaneous evaluation of matching Autistic children, the mercury levels were 0.47 parts/million, i.e. 7 times difference. Both groups had the same exposure in-utero and from external environment and vaccines. The Anti-mercury lobby used that evidence to debunk the role of mercury in Autism. However, the truth is just the opposite.
We excrete unwanted materials through urine, stool, sweat, breath and hair. Autistic children are incapable of using these routes to excrete mercury efficiently, leading to its accumulation in vital tissues, especially brain. The reduced hair levels therefore show the degree of decreased excretory capacity of affected Autistic children.

Mercury Poisoning Vs. Autism

Bernard et al., Med. Hypothesis,2001; 56(4): 462-471

Progress as Rx proceeds

As therapy proceeds, Blood Mercury levels shoot up while the child's disabilities decrease at same time as child finds it easier to excrete the previously sequestrated mercury.

Candidates for Chelation Therapy

  1. BAL is outdated
  2. DMSA is considered a better choice, and works in some cases where DMPS fails. As a rule, DMSA may be preferred in situations where there is multiple metal poisoning.
  3. n-Acetyl Cysteine is good but not good enough
  4. a-Lipoic Acid is a powerful Free Radical Scavenger, and has shows some benefits. However, it may promote overgrowth of Candida (Fungus) infection in gut.
  5. DMPS is our best bet so far, where the poisoning is largely limited to mercury..

DMPS (where mercury poisoning predominates)

DMPS is chemically (2,3-dimercapto-1-propanesulfonic acid). It is a water-soluble chemical, available as oral capsules. injections and transdermal Solution. The transdermal route is available as a dispensed formulation in USA from specific chemists. It may be used in both acute and chronic poisonings. The Intravenous administration is used primarily only in acute poisoning cases.
DMPS is stable in the crystalline form. Once dissolved in distilled water, DMPS is sensitive to oxidation especially in the alkaline range at pH greater than 7. Hence, it should not be mixed or diluted with anything that would alter itsí pH to greater than 7.

DMPS Oral

Oral DMPS may have erratic absorption (50-55%) if child has unstable GIT. It may cause abdominal pain, cramping, G.I. distress. It is easily available in Europe (Germany). After entry into the body, Mercury excretion shows extensive Entero-Hepatic Circulation (= Absorbed from gut into blood. Then partially re-excreted through bile back into the gut). Balance 50% left in gut neutralizes mercury ion Entero-hepatic Cycle to reduce systemic loads still further, similar to role of n-Acetyl Cystein.

DMPS Rectal

DMPS may be administered to small children as rectal suppository / solution in suitable vehicle, in case they cannot swallow the capsules. This can avoid need for Intravenous injections.

Monitoring

According to Prof. D N Guha Mazumdar of Calcutta (Kolkata) in West Bengal state of India, who has used Oral DMPS for Arsenic Poisoning in one of the districts of the state, the use of oral DMPS generally left the Zinc and Copper in plasma remain unchanged. He did not observe any significant incidence of deficiency for Fe (Iron), Cu (Copper), Mn (Manganese), Mg (Magnesium), Ni (Nickel), or Se (Selenium). However, he did note that pre-existing Zn deficiency may increase. Hence he also recommend pre-therapy monitoring and interrupted courses.

Testing for Mercury Poisoning

Best: Challenge Test & Antibody test
Blood, hair, and unprovoked urine are generally not good methods to test for infantile exposure to mercury since it has short existence time in blood (few weeks only), and rapidly leaks inside cells and out of blood.

Testing Procedure

a) Measure mercury levels in the 1st sample Urine in morning, after overnight fast.
b) Then give Oral DMPS, with breakfast, or, Rectal DMPS retained for at least Ĺ an hour
c) Collect Urine over next 12 hours as 2nd sample to measure mercury levels
d) Compare urinary mercury concentration between the two urine samples.

Positive: 2nd sample > 3 times the 1st sample Negative: 2nd sample < 3 times the 1st sample

The Mercury Story Continued.

The following text is based on the consensus process initiated at a conference convened for this purpose by ARI on September 29-30 in Los Angeles, California, USA As on March 16, 2005, more than 33 endorsements were received from reviewers who attended the ARI Conference.

There is growing clinical and scientific evidence that most children with autism suffer from mercury/metal toxicity. Removal of mercury and other toxic metals can be very beneficial to children with autism, sometimes resulting in a major decrease in autistic symptoms. Removal of mercury and other toxic metals was considered one of the most beneficial treatments for autism and related disorders.

Methodology, Precautions, Follow Up

Pre-Detoxification Treatment

Reduce Toxic exposure; no vaccine or dental amalgam containing mercury
Improve nutritional status (GFCF Diet)
Normalize Glutathione (Anti-oxidant) level
Treat intestinal dysbiosis (Probiotics, Anti-fungals, etc)
Baseline Kidney Function Test, Liver Function Test, Complete Blood Count

Nutritional Status

Most children will need increased amounts of vitamins minerals and some amino acids.
Special mention:
Give Zinc, as it is low in autism
AVOID copper as it is high in autism
Anti-oxidants to enhance blood Glutathione levels: Vitamin C & E, B6, Zinc, Selenium
Broad spectrum prophylactic MV / Minerals
Glutathione
Natural Free radical Scavengers: It binds to and eliminates toxic metals. its level is usually 50% lower in autistic children. Their levels must be normalized BEFORE STARTING detoxification. Supplementation available

Side Effects of oral / rectal DMPS

Occasionally, patients may develop chills, fever, or cutaneous reactions, presumably of an allergic nature, like itching or rashes (erythema), which usually are reversible once the treatment is stopped. Severe allergic dermatological reactions (e.g erythema exudativum multiforme, Stevens-Johnson syndrome) have been described in a few isolated cases.
Particularly when used over a long period of time, DMPS may influence the body's mineral balance, especially that of the elements zinc and copper.
The administration of DMPS mobilizes the ingested mercury in the body. In a few cases this may trigger the clinical symptoms of mercury poisoning.
Sickness or vomiting rarefy appear after ingestion of DMPS.

Mineral and Vitamin Supplementation

Zinc
Selenium
Magnesium
molybdenum
manganese
vanadium and chromium
NOT Copper
C
E
B6
Melatonin
Taurine amino acid
Glutathione
Alpha Lipoic Acid

Treatment Duration

Continue Chelation until urine excretion shows normal rate of Hg excretion
When improvement ceases, wait few months, then restart and see. If there is no improvement or regression even after 2 months.

Click here for details on UDAAN Multimode Therapy for Autism, using Standard Therapy, DAN Protocol, MB12 Injections, Mercury Chelation and Low pressure Hyperbaric Air (1.3 ATA ambient air (20% Oxygen))
along with necessary tests for assessing efficacy and safety.

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