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BIOMEDICAL email: info@autismfile.

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Dr. Dan Rossignol Dr. Irva Hertz-Picciotto Julie Matthews, CNC Dr. Amy Yasko Dr. Kenneth Bock

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Question 1 Risperdal is an atypical antipsychotic of environment, even when genetics is a major


We have a 47-year-old son who has medication that is a dopamine antagonist. It factor.
recently been diagnosed with Parkinson’s is used in autistic children to control certain Note also that if one child in a sibling pair
disease and is being treated very types of severe adverse behaviors, such as (two children with the same parents) has
successfully with the lowest dosage of agitation, rage, and aggression. autism, then the chances that a second child
Sinemet that is available. Its side effects (especially at higher doses) also develops autism seems to be around 10%
There is no Parkinson’s disease in either do include Parkinson-like symptomatology, (7% to 15% in well-conducted studies).
of our families. Has anyone with autism such as stiff, rigid muscles, tremor, abnormal Of course, those statistics do not tell us
had this same affliction? If so, is there any movements, and impaired gait. “how much of autism is due to genetics” or
reason? “how much of autism is due to environmental
Could Risperdal be a factor? Question 2 factors.”
Look forward to your reply. They say the chance of identical twins Also, it is absolutely crucial to understand
becoming autistic is 60%. Is this a genetic that the percentages of cases “caused by
Response from condition? genetics” and “caused by environment” do not
Dr. KenNETH A. Bock: sum to 100%. This is because most cases of
Parkinson’s disease is a neurodegenerative Response from DR. Irva Hertz- autism have multiple causes; i.e., not only are
disorder of unknown etiology (causation); Picciotto there multiple causes across the population,
however, a confluence of genetic and The statement is not accurate. The data but also: for each person who develops
environmental factors is suspected. Similarly, show that if one of two identical twins has autism, there is a set of factors, all of which
autism is a neurodevelopmental disorder autism, then the chance that the other one were necessary, and together were sufficient
with a complex multifactorial causation, also also has autism is between 60% and 90% in to cause brain development to go awry
believed to be due to genetic susceptibility studies conducted so far. This would be from resulting in the behavioral syndrome known
coupled with environmental factors. In both twin pairs that are not pre-selected for other as autism. This set of sufficient causes might
disorders, toxins are believed to play a role, factors. be five genes and one environmental insult, or
most likely coupled with an impaired ability to For comparison, the figure for fraternal vice versa, one gene and five environmental
detoxify these toxins. In Parkinson’s disease, twins is lower: about 10% (if one has autism, exposures. Also critical will be the timing of
pesticides and herbicides are especially then about 10% of the time, the other twin those exposures: the same exposure at 10
believed to play a role, whereas in autism, also will). In reality, even when two twins both months of age may do nothing, but at one
heavy metals and chemicals are suspected have the condition, the severity often varies week of age or at 3 months of gestation might
contributory factors. considerably, which supports the importance be quite damaging.

Disclaimer
Information is not provided as medical advice. Parents / patients should research all information given. Every person’s physiology is unique. All
information provided as a reply should be discussed with the patient’s personal physician and / or autism or other specialist appropriate to the
symptom(s) or body system(s) involved in their individual situation, who provides the patient with regular medical oversight, monitoring, and lab
testing, and who keeps up-to-date on the most recent research and interventions. Beginning any significant biomedical or other interventions
that may impact physiology or making changes to an established regimen should be discussed with the patient’s physician in advance.

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BIOMEDICAL

Question 4 Question 6
My daughter has elevated mercury and lead Is there a correlation between children
in her hair analysis report. I have heard having an MTHFR mutation and
that CaEDTA is better at pulling out lead seizures? My son has one of the MTHFR
and DMSA is better at pulling out mercury. polymorphisms and has started having
Which one and do you feel I should go with seizures. Also, might it make a difference
and why? as to whether the seizures would have
started if he hadn’t been subject to
Response from Dr. Dan Rossignol: mercury toxicity? In other words, how
What you describe is concerning because many of these factors singly or combined
elevated mercury and lead in the hair is would precipitate seizures? Understanding
consistent with recent exposure. Hair grows that every child is unique and medical
at about 1 cm per month, so it depends how attention is called for if a child begins
long the hair was that you sent off for testing, having seizures,are there other factors
but if it was several cm long, then there has such as nutrient deficiencies, testosterone
been exposure to lead and mercury within the levels, or anything else that might be
past several months. The MOST important considered?
step to take in this situation is to identify
the source of the mercury and lead, which Response from Dr. Amy Yasko:
means testing for these metals around the In terms of seizure activity, there are a
house, and then performing remediation. You number of factors that I have found to
would also be wise to measure blood levels, increase the incidence of seizures. First,
as this is a marker of recent exposure as well. lack of B-12 can be a major factor. There
Note that there will likely be not only risk You also need to work with a physician who are some longer posts on my chat group
factors but also protective factors in the is experienced with chelation if you decide about this topic, but the bottom line is that
environment. to pursue that route, as chelation is only when we have significant MTR and MTRR
Once we get a better handle on those advisable under certain situations, and if mutations and not enough B-12 support,
environmental factors, we will be able to evidence of toxicity has been met. Calcium we can see increased seizure activity. This
intervene to lessen the severity and possibly EDTA is more effective at removing lead, gets me to the second point which creates a
even prevent autism from developing, in at and DMSA is effective in removing both lead bit of a catch 22...When we have high level
least some children. and mercury, but again, you need to work detox of metals, such as mercury, lead, and
I hope this is helpful to you. with your physician before planning on going especially aluminum, that can also increase
forward with chelation. the incidence of seizures. Using B-12
Question 3 support can trigger detox. So, this is why it
My child has increased gut permeability. He Question 5 is a bit of a catch 22. When we have MTR
is 4 years old and has suffered in the past Can all-natural products such as Goji and and MTRR mutations we look to support
with constipation and diarrhea. Is DMSA GoChi help alleviate some of the symptoms with B-12, and the B-12 can be helpful in
chelation therapy advisable? of autism? lowering seizure activity. However, at the
same time, the increased B-12 can trigger
Response from Dr. Dan Rossignol: Response from Dr. Dan Rossignol: detox which can increase seizure activity.
You did not list if your child has autism, but Multiple studies have demonstrated that It is often not until the excretion of toxins
I am assuming that this is the case. Increased oxidative stress is a problem in some has progressed to lower the body burden
gut permeability has been described is a subset individuals with autism [1, 2], and this that we can see the positive effects of B-12
of children with autism [1] and is probably has been associated with regression [3]. support on reducing seizure activity. Finally,
indicative of underlying gastrointestinal Antioxidants including vitamin C [4], the level of excitotoxins in the system can
inflammation, which is also relatively common L-carnosine [5], methylcobalamin [6], also contribute to seizure activity. So, we’re
in autism [2, 3]. Therefore, I suggest you melatonin [7], carnitine [8], zinc [9], and looking at eliminating any added glutamine,
focus on treatments for the underlying pycnogenol [10] have been shown to improve glutamate, aspartate, aspartame, including
gastrointestinal problems. Before even symptoms in some individuals with autism these derivatives as complexed with minerals,
contemplating any form of chelation therapy, and attention-deficit hyperactivity disorder for instance, looking to eliminate magnesium
you need to perform some testing to determine in double-blind, placebo-controlled studies. aspartate or supplements as “amino acid
if chelation is even necessary, such as Goji and GoChi appear to have antioxidant chelates,” as those will also include glutamate
measuring markers of heavy metal toxicity (e.g., properties and, therefore, may be beneficial, and aspartate. I also look to reduce the
blood lead level, perhaps urinary porphyrin although I am unaware of any studies amount of calcium, as calcium in conjunction
levels). Furthermore, performing chelation published to date on the use of these in with glutamate can increase excitotoxin
without having gastrointestinal inflammation autism. Therefore, I would suggest first using activity and may increase seizure activity.
under control could worsen the inflammatory antioxidants that have been proven to be Looking to balance the glutamate with GABA,
problems. Work with your physician to effective in double-blind placebo-controlled theanine, low dose lithium, magnesium, and
determine if chelation is even advisable, studies. low dose zinc may be useful, as well as other
and, if so, make sure that gastrointestinal supplements that I have talked about in the
inflammation is first treated adequately. past.

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In answer to your question about MTHFR casein-free) are good sources of glutathione. kombucha supply good bacteria that help
mutations and seizure activity: I have not Methionine, betaine, and choline enhance with peristalsis (keeps the bowels moving),
seen a direct relationship between the liver function and increase the levels of reduce inflammation, and support a healthy
two. If the MTHFR mutation has allowed glutathione. Methionine is found in meat, intestinal tract. Additionally, simmer prunes
for decreased methylation cycle activity, fish, sesame seeds, Brazil nuts, spinach, and in apple juice, and have your child eat
and that decreased activity has allowed potatoes. Betaine is found in beets, spinach, the prunes and drink the juice. Consider
for increased toxin accumulation, then and broccoli. Egg yolk and liver contain magnesium or vitamin C supplementation,
indirectly the MTHFR may be increasing choline. both “loosen” stool. Simmer or steep flax
seizure activity by virtue of the increased seeds (not SCD-compliant) in water, strain
toxin burden on the system. If we are talking Question 8 and consume the liquid. Be sure to work with
about MTHFR A1298C mutations, we will Can you help me with my son who is a physician that can view this from a medical
frequently see those individuals as having permanently constipated? He can go for perspective to make sure there isn’t anything
more issues with aluminum toxicity, which five days without passing a stool. I need medical going on.
may indirectly contribute to increased to keep sugar out of his diet because he
seizure activity as compared to those who has Candida. He also can’t have wheat or Question 9
are MTHFR C677T. Also, MTR and MTRR casein. Can you recommend good foods to feed
mutations, particularly those that I consider my son who has ADD, I really need to help
more severe, and the attendant need for Response from Julie Matthews, CNC: his memory as he is suffering at school.
B-12 may also be indirectly related to seizure There are a couple aspects to constipation-
activity. -avoid the things that can contribute to Response from Julie Matthews, CNC:
inflammation and microbial imbalance, and First, avoid all artificial colors, flavors and
Question 7 add substances that help with constipation. preservatives, as well as MSG (monosodium
I hear that glutathione is commonly I’m assuming that he is avoiding gluten, glutamate, autolyzed yeast, hydrolyzed
depleted in autism and is poorly absorbed as well as wheat -- if not, remove gluten, vegetable protein)--this is crucial. Avoid
as a supplement. How best can I, through as well. As far as food goes, also consider trans-fats such as partially hydrogenated
foods consumed, elevate glutathione other food sensitivities such as soy, corn, oil, and consume healthy fats such as cod
levels in my child? eggs or other possible intolerances that can liver oil, olive oil, coconut oil, animal fats,
create inflammation in the gut. Candida and and nuts. Make sure your child has a well-
Response from Julie Matthews, CNC: dysbiosis can cause constipation, consider the balanced breakfast including protein and
Glutathione, an important antioxidant, is Specific Carbohydrate Diet or other diet that fat before school, such as eggs or a sausage
used for detoxification, immune function, and avoids complex starches and/or sugars to patty. Choline, the precursor to acetylcholine,
intestinal integrity. Vitamins A, C, and E, zinc, starve out any harmful microbes. which is important for memory, can be found
selenium, and carotenes enhance immune Make sure the simple steps are covered in egg yolks, nuts and seeds (particularly
response and “spare” glutathione--look for first -- consume fiber through fresh fruits peanuts), liver, meat, milk products (if
foods rich in these antioxidants. Asparagus, and vegetables, and drink adequate water. not dairy-free), fresh fruit, and vegetables
watermelon, broccoli, garlic, onion, and, Fermented foods such as yogurt and kefir (especially broccoli, cabbage, cauliflower,
particularly, whey protein (however, it’s not (dairy or non-dairy), raw sauerkraut, and beets, asparagus, and tomatoes).

References for Question 3: References for Question 5: 6. James, SJ, et al., Efficacy of methylcobalamin
1. D’Eufemia P, Celli M, Finocchiaro R, Pacifico 1. James, SJ, et al., Metabolic endophenotype and and folinic acid treatment on glutathione redox
L, Viozzi L, Zaccagnini M, Cardi E, Giardini O: related genotypes are associated with oxidative status in children with autism. Am J Clin Nutr,
Abnormal intestinal permeability in children with stress in children with autism. Am J Med Genet B 2009. 89: p. 1-6.
autism. Acta Paediatr 1996, 85(9):1076-1079. Neuropsychiatr Genet, 2006. 141(8): p. 947-56. 7. Garstang, J and Wallis, M, Randomized
2. Ashwood P, Anthony A, Pellicer AA, Torrente 2. Chauhan, A and Chauhan, V, Oxidative stress in controlled trial of melatonin for children with
F, Walker-Smith JA, Wakefield AJ: Intestinal autism. Pathophysiology, 2006. 13(3): autistic spectrum disorders and sleep problems.
lymphocyte populations in children with p. 171-81. Child Care Health Dev, 2006. 32(5): p. 585-9.
regressive autism: evidence for extensive 3. Chauhan, A, et al., Oxidative stress in autism: 8. Van Oudheusden, LJ and Scholte, HR, Efficacy
mucosal immunopathology. J Clin Immunol 2003, increased lipid peroxidation and reduced serum of carnitine in the treatment of children
23(6):504-517. levels of ceruloplasmin and transferrin--the with attention-deficit hyperactivity disorder.
3. Torrente F, Anthony A, Heuschkel RB, Thomson antioxidant proteins. Life Sci, 2004. 75(21): Prostaglandins Leukot Essent Fatty Acids, 2002.
MA, Ashwood P, Murch SH: Focal-enhanced p. 2539-49. 67(1): p. 33-8.
gastritis in regressive autism with features 4. Dolske, MC, et al., A preliminary trial of ascorbic 9. Bilici, M, et al., Double-blind, placebo-controlled
distinct from Crohn’s and Helicobacter pylori acid as supplemental therapy for autism. Prog study of zinc sulfate in the treatment of
gastritis. Am J Gastroenterol 2004, 99(4):598- Neuropsychopharmacol Biol Psychiatry, 1993. attention deficit hyperactivity disorder. Prog
605. 17(5): p. 765-74. Neuropsychopharmacol Biol Psychiatry, 2004.
28(1): p. 181-90.
5. Chez, MG, et al., Double-blind, placebo-
controlled study of L-carnosine supplementation 10. Trebaticka, J, et al., Treatment of ADHD with
in children with autistic spectrum disorders. French maritime pine bark extract, Pycnogenol.
J Child Neurol, 2002. 17(11): p. 833-7. Eur Child Adolesc Psychiatry, 2006. 15(6): p.
329-35.

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