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
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.
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 :
The average age of diagnosis of autism was 6 years of age, despite the
fact that most parents felt something was wrong by 18 months of age
Less than 10% of children were diagnosed at initial presentation
10% were either told to return if their worries persisted, or that their
child "would grow out of it"
The rest were referred to another professional (at a mean age of 40
months); of which:
40% were given a formal diagnosis
25% were told "not to worry"
25% were referred to a third or fourth professional
Clinically identifying children with autism
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
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
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
No babbling by 12 months
No gesturing (e.g., pointing, waving bye-bye) by 12 months
No single words by 16 months
No 2-word spontaneous (not just echolalic) phrases by 24 months
Any loss of any language or social skills at any age
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.
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
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
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).
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
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.
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
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.
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.
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
Benefited to Worse
Cod Liver Oil
Food allergy treatment
Vitamin B6 + Magnesium
Vitamin Methyl B12
Gluten/Casein Free Diet
Removed Milk/Dairy products
What are the vitamin / mineral supplements suggested?
but NOT Copper
B6: Pyridoxal 5 Phosphate / Pyridoxal HCl (different doses required)
Fruits except citrus and Canned (if in their own juice and without artificial color, sugar or
Any fresh vegetables
Meats and poultry and fish from clean water sources
Beverages: Water, Single herb or plain tea, honey, Grape juice, bottled Frozen apple juice, Pure pineapple juice (no corn or dextrose)
Snacks: Potato chips (no additive), Pure honey, Raisins
Miscellaneous: Pure honey, Homemade vinegar oil dressing, Sea salt, Pepper, Pure maple syrup, Homemade soup
Cereals with Gluten
Fruits like Citrus (orange, lemon, lime, grapefruit)
Any frozen or canned vegetables, peas or mixed vegetables
Artificially dyed hamburger/meat, ham
Dyed salmon, lobster
Breaded meats, meats with stuffing
Milk or dairy drink with casein or whey
Fruit beverages except those so specified
7-up, Sprite, Cola, Ginger Ale
Corn chips (Fritos) Chocolate/cocoa
Hard candy, ice cream or sherbet
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
Do NOT eat any food you already know causes a severe allergy.
Food list more suitable for India (There can be exceptions!!)
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
The association of mercury with neurodegenerative diseases is the most
significant, with the references numbering 1445.
How do we get exposed to mercury?
The mercury amalgams in our teeth
Contamination of our water sources,
Inhalation of combustion from fossil fuel
Fish that we consume
Many of the vaccines still using Thiomerosal preservatives
Via breast milk, just to name a few
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
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
The major toxicity of mercury compounds is expressed in the central
nervous system, although immune and gastrointestinal systems are also
commonly affected; it is the same for Autism.
Mercury poisoning causes widespread dysfunction of enzymes, transport
mechanisms and structural proteins; it is the same for Autism.
The susceptibility to mercury poisoning in boys is four times greater than
girls, it is the same for Autism
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
BAL is outdated
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.
n-Acetyl Cysteine is good but not good enough
a-Lipoic Acid is a powerful Free Radical Scavenger, and has shows some
benefits. However, it may promote overgrowth of Candida (Fungus) infection
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
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
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.
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 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.
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.
a) Measure mercury levels in the 1st sample Urine in morning, after overnight
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
Methodology, Precautions, Follow Up
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
Most children will need increased amounts of vitamins minerals and some amino
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,
Broad spectrum prophylactic MV / Minerals
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
vanadium and chromium
Taurine amino acid
Alpha Lipoic Acid
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.