Tag: autism

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Environmental toxins and neurodevelopmental disorders in children

A consensus statement has been released by the Project TENDR group regarding environmental toxins and the risk of neurodevelopmental disorders in children which include ADHD, autism, and learning and other neurodevelopmental disabilities.  Read more: http://scienmag.com/scientists-physicians-and-advocates-agree-environmental-toxins-hurt-brain-development/

An excerpt lists the environmental toxins the group has identified as potentially  increasing children’s risk of developing ADHD, autism or other neurodevelopmental or learning disorders (the bold font was added by me):

The chemicals and pollutants highlighted in the consensus statement as contributing to children’s learning, intellectual and behavioral impairments are:

* Organophosphate (OP) pesticides

* Polybrominated diphenyl ethers (PBDEs) used as flame retardants

* Combustion-related air pollutants, which include polycyclic aromatic hydrocarbons (PAHs), nitrogen dioxide and particulate matter

* Lead, with primary sources of water pipes and paint

* Mercury

* Polychlorinated biphenyls (PCBs), industrial chemicals that were commonly used in electrical equipment and now pollute landfills and water

More information on each of these compounds and how families can protect themselves from them is on the Project TENDR website: http://projecttendr.com.

A comparison to  a checklist on one of my older post’s for toxins to avoid in the hopes of preventing autism included four of the groups: 2. PBDEs, 6. PCBs, 4. lead and 5. (methyl) mercury. And 3. formaldehyde is also a combustion-related air pollutant but I will need to add the other combustion-related air pollutants and 1. Organophophate pesticides.

Other risks for neurodevelopmental disorders developing in children may include:

A list of toxins to avoid can be useful for generating a list of foods and lifestyle choices that may be more beneficial or more of a risk for an expectant infant.  Note the phrases “May be,” “might help,” or “might harm” are suggestions rather than firm claims; there are no guarantees in life. Evidence based medicine likes to suggest that there is enough evidence to support a recommendation as being conclusive but the evidence typically does not provide guidance that is clearly 100% for or against something and generally is averaging results for a large group of people so the “average” patient may not even exist in real life. Results might have been clustered at extremes, with a group that was helped and a group that was harmed by the research substance. The average statistic would be from the middle of both groups and might suggest that all people will be helped that middle amount of a little bit rather than that half the people may be helped a lot and half the people may be harmed a lot. People vary in their body’s ability to detoxify and in their body’s supply of nutrients available for detoxifying or for growth and repair. Evidence based medicine frequently looks at the averages of all patients rather than looking at individual results.

Preventative health guidance can suggest that something may help or may be more harmful ,but on an individual basis a health suggestion can not be guaranteed to prevent ADHD or autism in every case, anymore than vaccinations can be guaranteed to be safe for every individual or to never have been associated with autism as an adverse reaction in a few individuals. Vaccinations have been associated with encephalitis as an adverse reaction that leads to autism like symptoms over time.

Rates that are increasing exponentially are likely to plateau or slow down at some point but do we really want to find out how much worse an exponential rate can get before trying to do something about it? Autism used to occur at a rate of about 4.5 children in 10,000 just a few decades ago (1966), in 1994 the rate was as high as 15-40 children per 10,000, and now it is somewhere closer to 1 child in 68 or 1 child in 45 depending on which study or group of children you’re looking at. In 2012 the rate was 1 child in 88.

Excerpt:

Clinicians can identify ASD in children as young as two years old, although children from ethnic minority groups are usually diagnosed at a later age than their Caucasian counterparts. ASD is commonly comorbid with attention-deficit hyperactivity disorder, anxiety disorders, intellectual disability, epilepsy and other genetic conditions like fragile X syndrome, tuberous sclerosis, neurofibromatosis, congenital rubella syndrome, Down syndrome, Prader-Willi syndrome, and Angelman syndrome. Until recently, there was little, if any, epidemiological research focusing on the prevalence of ASD in adults. In 2011, one study reported the prevalence of ASD in an adult sample to be 1%, with higher rates for men (1.8%) than women (0.2%) (Brugha T et al, Arch Gen Psych 2011;68:459–466).

Similarly, there are few studies evaluating outcomes and prognosis for adults with ASD. Given current prevalence rates, the population of adults with autism is expected to rise 625% by the year 2030, and the estimated lifetime cost per individual with autism, including caregiving costs and lost productivity, can reach up to $3.2 million (Ganz M, Arch Ped Adol Med 2007;161(4):343–354).

White male children seem to be the group most at risk for developing autism, currently, and Asian children may be the group least at risk (the iodine content in sea weed may be a protective dietary factor and rice may have less risk of having the pesticides that are suspected of being neurodevelopmental toxins than wheat or corn).

The 2010 U.S. census showed a total of 138,053,563 males (49.1% of total population) and 143,368,343 females (50.9% of 281,421,906 total population). http://www.infoplease.com/us/census/data/demographic.html

If approximately 1.8% of adult men have autism and 0.2% of women have autism that would mean approximately 2,484,964 men and 286,736 women may have autism (2,771,700 total) and which might cost up to  $8,869,440,000,000 dollars in lifetime caregiving costs and lost productivity (almost 9 trillion dollars) — and that estimate would just be for the 2010 total. The rate of autism occurrence has increased since 2010. If the rate increases 625% by 2030 then we may expect 17,323,125 adults to have autism at a cost up to $55,434,000,000,000 in caregiving and lost productivity costs (55 trillion dollars)(and approximately 90% would be males, 15,590,812, (with a 1.8% incidence rate) and 10% females, 1,732,312 (with an 0.2% incidence rate)).

Males are more at risk and white males in particular are at greater risk for developing autism. Female hormones may be helping protect the female infants brain development or a milder form with less behavior changes may not be being diagnosed based on the current diagnostic criteria. If we would like infants to have traditional health expectations in the future then it might be worth considering that the baby factories (pregnant women) are malfunctioning at increasing rates, (autism seems to be set up during the prenatal stage that flairs up in the child later in life), and with a personal cost of increasing rates of autoimmune disease (one in nine women of childbearing years are estimated to be diagnosed with some type of autoimmune disease – (see excerpt below). Glyphosate may be inhibiting the ability to activate vitamin D which is essential for the pregnancy and the baby’s development and the woman’s autoimmune risk. Taking Vitamin D supplements can be great but expected benefits might not be seen if the CYP enzymes necessary for activating the vitamin aren’t functional due to glyphosate.

Iodine, zinc, and folate and B12 deficiencies during pregnancy also seem to be involved in increased risk of autism developing in the child later in life. And vitamin D is involved in autoimmune disease risk. Vitamin D receptors work within the immune system and help the body to be less allergic to self or for the mother to be sensitized to the expected infant’s DNA. Low vitamin D in the mother could be increasing her risk for autoimmune disease later in life (microchimerism – a few cells with infant’s DNA in the mother or cells with maternal DNA in the infant may be involved in autoimmune antibodies developing) and increasing the infant’s risk for developing autism later in life. Just giving more vitamin D might not be helping as expected if the herbicide glyphosate is inhibiting the enzymes necessary for activation of the vitamin.

Depending on which diseases are called autoimmune disease, minimally 23.5 million people in the U.S. have some type of autoimmune disease. Excerpt:

Or slice these statistics another way: while one in 69 women below the age of fifty will be diagnosed with breast cancer, according to estimates, as many as one in nine women of childbearing years will be diagnosed with an autoimmune illness, which strike three times as many women as men — and most often strike patients in their prime. According to the National Institutes of Health, autoimmune disease affects far more patients than the 9 million Americans who have cancer and the 16 million with coronary disease.

Rates of type 1 diabetes are perhaps the most telling. Data over the past forty years show that type 1 diabetes, a disease in which immune cells attack the insulin-producing beta cells in the pancreas, has increased fivefold. The story regarding childhood-onset type 1 diabetes is more disturbing. Studies show that the number of children with type 1 diabetes is skyrocketing, with rates increasing 6 percent a year in children four and under and 4 percent in children aged 10 to 14.

Type 1 diabetes researchers insist that today’s rapid rise in this disease cannot be explained by either better diagnostics or by more people suddenly becoming genetically susceptible to type 1 diabetes; rather, a change in environmental factors is the “more plausible explanation.”

The average patient with autoimmune disease sees six doctors before attaining a correct diagnosis. Recent surveys conducted by the American Autoimmune Related Diseases Association reveal that 45 percent of patients with autoimmune diseases have been labeled hypochondriacs in the earliest stages of their illnesses. Some of this, no doubt, has to do with the fact that 75 percent to 80 percent of autoimmune disease sufferers are women, who are more easily dismissed by the medical establishment when hard-to-diagnose symptoms arise. In half of all cases, women with autoimmune disease are told there is nothing wrong with them for an average of five years before receiving diagnosis and treatment. Patients — most especially women — are often left feeling both confused and marginalized, or worse, labeled as psychosomatic malingerers.

http://www.alternet.org/story/80129/the_autoimmune_epidemic%3A_bodies_gone_haywire_in_a_world_out_of_balance

Also from that article: the rates of autoimmune disease have been increasing in many industrialized countries, not just the U.S.. And autoimmune disease seems to be more associated with living in urban areas than rural ones. Rates of Type 1 diabetes in children under four years old  has increased six percent and four percent for older children — that is just not right, not traditional, and not fair to our children or their future world. They will have to take insulin shots for the rest of their  (potentially shorter than expected) lives.

If glyphosate inhibits CYP enzymes then it may be affecting the pancreas as CYP enzymes play a role in detoxifying toxins within the pancreas. Chronic pancreatitis and pancreatic cancer may be associated with malfunction of CYP enzymes in the pancreas.  http://www.flandershealth.us/chronic-pancreatitis/the-role-of-enzymes-in-pancreatic-diseases.html

Inhibition of the CYP enzymes might not be involved though, another reference suggests the CYP enzymes in the pancreas of patients with chronic pancreatitis or pancreatic cancer are elevated — but maybe the levels are elevated because the enzymes are not functioning as normal and the body may be making extra to try to compensate for the malfunction – we don’t know what we don’t know until we learn it or admit that we already learned it a long time ago but have been in denial.  https://books.google.com/books?id=J38lUlOxgoEC&pg=PA143&lpg=PA143&dq=CYP+enzymes+role+in+the+pancreas&source=bl&ots=EMkv-013SF&sig=ONq1DMQh6NaVs3uZc77Ay9cKHL0&hl=en&sa=X&ved=0ahUKEwjsqZ6G1NzNAhXE2R4KHaWLBAAQ6AEIJTAB#v=onepage&q=CYP%20enzymes%20role%20in%20the%20pancreas&f=false


/Disclosure: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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Methylation Cycle Defects – in me – genetic screening “for research purposes only”

I purchased an independent genetic analysis which clearly states that it is “For research purposes only. Not for use in diagnostic procedures.” The screening is for informational purposes as there isn’t a physician providing individual care. But that is okay since I enjoy research with an experimental group of N=1 (me).

The genetic screening panel, is self pay, not covered by insurance, and while the company provides free information it also sells nutritional supplements designed to support the special metabolic needs associated with defects in the methylation cycle, which can affect levels of B12 and folate in particular. The screening assessed my genes, (from a finger stick blood sample that I provided by mail), for thirty different gene mutations known to be involved in the methylation cycle, and found — drum roll — eleven mutations in my genes. Four of them are double mutations which I think means that the mutation is on both genes – no normal genes for that protein for me, means that my body has no recipe card to make four types of proteins.

And — drum roll — one of the single gene mutations is on my Vitamin D Receptor gene — specifically of the Fok1 type which has been associated with an increased risk for autoimmune disease.  With a single gene mutation I think roughly half of my Vitamin D Receptors might be normal and half might be three amino-acids longer than normal as described in the following excerpt from a research article about Type 1 Diabetes:

“Variants of the VDR gene have been associated with susceptibility to several autoimmune processes. The roles of the VDR gene polymorphisms depend on their locations (Slattery, 2007). FokI polymorphism is within the DNA binding domain, near the 5′ end, and the rest of the SNPs are in the 3′UTR region within the ligand binding domain. The FokI polymorphism creates an alternative ATG initiation codon in exon 2 leads to a 3 amino-acids longer VDR protein by directly introducing a start codon. A functional impact of this polymorphism on the immune response has been demonstrated (Colin et al., 2000; van Etten et al., 2007). However, VDR gene SNPs influence on VDR expression differ in different populations.” – Elham O. Hamed et. al., “Vitamin D Level and Fok-I Vitamin D Receptor Gene Polymorphism in Egyptian Patients with Type-1 Diabetes,” [http://app.egyptlearn.com/eji/pdf/june2013/1-Elham-Sohag.pdf]

I’m not sure if having an extra “start” codon on half of my Vitamin D Receptors makes them more “startable” / more over active, or whether it would make them less effective. The article suggests the mutation does leave patients more likely to become calcium and vitamin D deficient but it never mentions whether hormone D levels were ever measured or not.

A different older post has a citation that clarified the roles of vitamin D and hormone D. Vitamin D is actually only associated with a carrier protein that seems to act as an “off” switch and prevents it from activating the Vitamin D Receptor. Any free D that is not carried by the special carrier protein, becomes activated to the hormone. And since there are typically many, many more open Vitamin D Receptors in the body than the supply of active hormone could ever fill, any free D, if there is a deficiency or lack of the carrier protein, is likely to become activated to hormone D and then proceed to activate a Vitamin D Receptor. My lab tests and symptoms have always been worse when I have excess D so I’ve been wondering if I might have a genetic mutation in my D carrier protein gene, but this methylation cycle panel didn’t check that gene.

The four double mutations are in the genes: MTHFRC677T (Call – T), MTRR/A66G (Call – G), BHMT/1 (Call – T), and MAO A/R297R (Call – T).

The seven single mutations are in the genes: SHMT/C1420T (Call – Hetero), MTR/A2756G (Call – Hetero), BHMT/8 (Call – Hetero), CBS/A360A (Call-Hetero), COMT/V158M (Call-Hetero), COMT/H62H (Call-Hetero), as well as the VDR/Fok1 (Call-Hetero) mutation.

Genetic defects in the methylation cycle of expectant mothers or in the expected infant have been associated with an increased risk for autism developing in the infant later in life. Children with a COMT mutation were at increased risk to develop autism, but I will have to dig through old posts, (1, 2), to find that citation: [4: Schmidt RJ1, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I., Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism., Epidemiology. 2011 Jul;22(4):476-85, [http://www.ncbi.nlm.nih.gov/pubmed/21610500] I didn’t include the specific genetic mutations in the old posts; the article mentioned two for mothers and one for the child. The COMT 427 AA gene in the child turns out to be a slightly different mutation than the COMT mutations reported in my genetic panel, however I do have the double T mutation in my MTHFR 677 gene mentioned in this article as placing expectant mothers at increased risk for having a child with autism. But my CBS mutation is single and also different than the one mentioned in the following excerpt:

Excerpt from the Abstract:

“Significant interaction effects were observed for maternal MTHFR 677 TT, CBS rs234715 GT + TT, and child COMT 472 AA genotypes, with greater risk for autism when mothers did not report taking prenatal vitamins periconceptionally (4.5 [1.4-14.6]; 2.6 [1.2-5.4]; and 7.2 [2.3-22.4], respectively). Greater risk was also observed for children whose mothers had other one-carbon metabolism pathway gene variants and reported no prenatal vitamin intake.”

Excerpt from the article:

“However, children with the COMT 472 AA genotype were at increased risk for autism if their mothers reported having taken periconceptional prenatal supplements (OR = 1.8 [CI = 0.99–3.5]), and were at substantially higher risk if their mothers did not (7.2 [2.3–22.4];”              [4, full text article available]

The four double mutations are in the genes:

  1. MTHFRC677T (Call – T), Methylene tetrahydrofolate reductase, This version of the gene may have less activity than the more typical version of the gene (the T stands for Thymine, the more effective version has a C, cytosine). https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase  It may cause hyperhomocysteinemia especially if levels of folate, B6 and B12 are deficient. [http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648] May make deficiency of methylated folate more of a risk and make folic acid supplements not useful.
  2. MTRR/A66G (Call – G), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase or methionine synthase reductase, This mutation may increase risk for elevated levels of homocysteine and may affect folate and vitamin B12 methylation. Levels of B12 might be normal but not functional due to the lack of methylation. [http://mtrra66g.com/] * this site is commercial and recommends a methyl form of B12 however one of my other mutations might be affected negatively by excess methyl donors, see the selfhacked.com link in the #4 “warrior gene” within this list.  [https://ghr.nlm.nih.gov/gene/MTRR] [http://www.ncbi.nlm.nih.gov/gene/4552]
  3. BHMT/1 (Call – T), Betaine-homocysteine methyltransferase (BHMT),  This enzyme helps produce  the amino acids methionine and Dimethylglycine (DMG). DMG has been found helpful in ADHD, autism, allergies, alcoholism drug addiction, and chronic fatigue syndrome among other chronic issues. Methionine has been found helpful in treating depression, allergies, alcoholism and schizophrenia among other chronic issues. Hypothyroidism may be associated with over expression of this gene: [http://www.wikigenes.org/e/gene/e/635.html] Choline deficiency disease and hyperhomocysteinemia (a heart disease risk factor) may be associated with this gene — (not necessarily with this specific mutation though). The protein that the gene normally produces is necessary in metabolism and in the CDK-mediated phosphorylation and removal of Cdc6 SuperPath: [http://www.genecards.org/cgi-bin/carddisp.pl?gene=BHMT] And the CDK-mediated phosphorylation and removal of Cdc6 SuperPath involves 97 other pathways which include a Calcium2+ pathway and a Parkinsons Disease pathway and creatine metabolism (important for muscles) and synthesis of DNA and many other metabolic paths/chains of chemical events  (so a double mutation in this gene may make it difficult for me to make phospholipids endogenously, but this information is out of my depth, organic chemistry wise): [http://pathcards.genecards.org/card/cdk-mediated_phosphorylation_and_removal_of_cdc6] This double mutation in combination with the single mutation (+/-) in (#3 below) BHMT/8 and (#4 below)CBS/A360A may exacerbate each other’s negative effects on my body, causing an up-regulation of the CBS pathway and also may make it more difficult for me to remove toxic heavy metals from my body – see #4 in the next list for the link.
  4. MAO A/R297R (Call – T). “Monoamine oxidase A (MAO-A) is an enzyme in the brain,” Nick-named “The Warrior Gene” because levels need to be just right because it causes the breakdown of neurotransmitters and too little or too much can cause different symptoms from increased violence to increased anxiety and less aggression. “The G or GG allele indicates higher levels of the enzyme, while the T allele indicates lower levels (T is the ‘risk’ allele). (R)   In females, the G allele was associated with higher outward anger (p = 0.002) and it seems like G allele also causes aggression in males. (R)” The T version of R297R mutation is associated with generalized anxiety disorder (which was one of my earlier “diagnoses” but it was from talk therapy with a MSW so it never really “counted” with psychiatrists that I saw more recently.) “Females with TT reported higher levels of ‘‘angry temperament’’.  Female suicide attempters with TT reported higher ‘‘self-aggression’’” “Women are less likely to have these genes.” “People with the low activity MAO-A gene (2R, 3R) are overall more prone to violence. Specifically, when these people feel very provoked or socially isolated their aggression will come out. People with low MAO-A are more likely to be risk takers.  They are are also more likely to take revenge and use greater force if they get screwed over, but not for small screw overs. Mice with low MAO-A are also more aggressive in general and are more likely to start turf wars. People and mice with low MAO-A are more impulsive and aggressive. People with low MAO-A who are abused as kids show more aggressive behaviour as an adult.” The herbal supplement Gingko biloba, riboflavin (vitamin B2), bio-identical progesterone, and keeping to my circadian rhythm, (keeping a regular day/night wake/sleep cycle instead of pulling all-nighters and then sleeping in), may help me if I have low levels of the enzyme (and excess aggression/anxiety): [http://selfhacked.com/2014/12/07/about-mao-a-and-what-to-do-if-you-have-the-warrior-gene/] Reserpine, a drug based on an herb called Rauwolfia serpentina, or Indian snakeroot or sarpagandha may also help: [http://www.warriorgene.info/] * a commercial site.

The seven single mutations/polymorphisms are in the genes:

  1. SHMT/C1420T (Call – Hetero), Serine hydroxymethyltransferase, This polymorphism was not found to have an increased risk of Down’s Syndrome (DS) (thought possible because it affects folate) and levels of metabolites of the folate pathway seemed similar between the experimental groups of mothers (had children with DS) and control groups of mothers (did not have children with DS).  A protective role was actually found for this polymorphism (which sounds nicer than mutation, allele is another word for variations of the same gene.) [http://www.ncbi.nlm.nih.gov/pubmed/21687976]
  2. MTR/A2756G (Call – Hetero), methionine synthase gene, This mutation may cause up-regulation of the conversion of homocysteine to methionine which requires and might use up stores of methylated B12. [http://mtra2756g.com/] * a commercial site.
  3. BHMT/8 (Call – Hetero), see #3 above for general information about this gene’s protein.
  4. CBS/A360A (Call-Hetero), “CBS (cystathionine beta synthase) is a gene that converts homocysteine into cystathionine. 
The CBS pathway is the gateway into a number of essential biochemical processes. 
The biochemical pathways that follow and are linked to CBS are Transsulfuration and Glutathionine Synthesis.

 It is essential to address that Glutathione (GSH) is among the most important endogenously-produced antioxidants in every cell of the body. Glutathione activity in cells is critical for normal detoxification and defense mechanisms in every cell.” (I’m suggested to eliminate eggs from my diet — too late, they are already gone, but also cruciferous vegetables, onions and garlic – sad face. but I’m also suggested to avoid excess methyl donors like choline — and coffee is a methyl donor – sad face – it is already gone too, very sad face): “Restriction of supplemental methyl groups is important. We all need methyl groups, but those with active CBS up-regulations 
need to be cautious with how much sulfur and how many methyl groups they are taking in daily.
 This includes common supplements such as: L-methionine, L-cysteine, L-taurine, MSM, Glucosamine,  L-Glycine, DMSO, SAMe, NAC, methylcobalamin, methyl-folate, Betaine HCL, Choline. Restricting Vitamin B6 may also be warranted in CBS up-regulations. P5P (pyridoxal 5 phosphate), however, does not appear to increase CBS activity.” [http://metabolichealing.com/metabolic-gateways-cbs-gene-mutations-glutathione/] *That link is to a clinic. (So when my B6 runs out, I should special order the P5P version — which a pharmaceutical company is trying to patent as a prescription medication, if it can gain the FDA’s approval to make the more biologically active form of an essential nutrient unavailable without a prescription because it would interfere with their potential profits: “How does Medicure think it can get away with this? Its petition states rather candidly: “Pharmaceutical companies developing new drugs must be protected from companies that may seek to market the ingredients in those drugs as dietary supplements. The marketing of such products has the potential to undermine the incentive for the development of new drugs because many people may choose to purchase the supplements rather than the drugs.”” An essential nutrient is not a drug — companies have to tack on a fluoride or bromide or something else that makes the new chemical slightly different in order to be able to patent a chemical within the normal process. Bio-identical nutrients are not usually able to be patent protected – because they are essential, especially for people with metabolic defects in their ability to convert less active forms to the more active form. In my state, the Michigan Consumer Protection Act of 1976 is supposed to protect people from having their disability used against them in business transactions such as buying a supplement or prescription medication. 445.903x: “(x) Taking advantage of the consumer’s inability reasonably to protect his or her interests by reason of disability, illiteracy, or inability to understand the language of an agreement presented by the other party to the transaction who knows or reasonably should know of the consumer’s inability.“, And products aren’t supposed to misrepresented such as calling an essential nutrient a prescription medication: 445.903e: “(e) Representing that goods or services are of a particular standard, quality, or grade, or that goods are of a particular style or model, if they are of another.”  [http://www.legislature.mi.gov/(S(45hcye5dzt3luno152p33nku))/mileg.aspx?page=getobject&objectname=mcl-445-903])
  5. COMT/V158M (Call-Hetero), Catechol-O-Methyltransferase, Variations of this gene may lead to swings in dopamine levels that can cause mood swings. Red and purple foods may not be processed well and also may cause problems in mood swings for some people (like purple berries and red food dye (?) just reading, aghast that I’ve survived this long. Red food dye was one of my earliest migraine triggers.) [http://resqua.com/702188759/what-does-the-comt-gene-mutation-mean] Defects in this gene are associated with ADD/ADHD. [http://www.snpedia.com/index.php/Yasko_Methylation] And with panic disorder. [http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMT]
  6. COMT/H62H (Call-Hetero), see #5 above.
  7. VDR/Fok1 (Call-Hetero). – the gene for the Vitamin D Receptor, see the excerpts within the earlier text of this post. And: “VDR Fok is involved with Blood sugar regulation. VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR mutation means that a person is less sensitive to methyl group supplement levels. (Mood swings.) A VDR mutation can result in behaviors opposite to a COMT mutation. See Dr. Roberts comments at http://www.heartfixer.com/AMRI-Nutrigenomics.htm#VDR%20Taq:%20%20Vitamin%20D%20Receptor%20Taq%20Abnormality ” [http://www.snpedia.com/index.php/Yasko_Methylation] Dr. Roberts comments suggest that my normal VDR Taq gene helps balance the COMT +/- genes so that I have reasonable dopamine production but might have increased risk for mood swings. hmmmm

So I went and bought some more wild yam progesterone cream because I had run out a while ago and forgot to buy more and it has helped my mood and other peri-meopausal symptoms in the past. I also bought some Gingko biloba because I have also used that in the past with no problems and mood swings and self-aggression are no fun.

/Disclaimer: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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Newborn screening for autism – 3 sets of 5 potential biomarkers

I bought the research study regarding newborn screening for autism and it is exciting but was based on a small number of patients with a diagnosis of autism spectrum disorder (n=16, control group n=32).

  1. Newborn screening for autism: in search of candidate biomarkers. [http://www.ncbi.nlm.nih.gov/pubmed/23547820 ]

The research study evaluated the newborn umbilical cord blood for 90 biomarkers (various types of lab tests), 76 biomarkers were found to have consistant data available for all study subjects,  and three sets of five biomarkers were found to be consistently increased or decreased in the infants who were diagnosed with autism later in life compared to the infants in the control group (the research study only used patients with an autism diagnosis who had been screened and diagnosed by the same physician in order to reduce risk of inconsistent diagnostic standards in the experimental group (n=16).

The three sets of five biomarkers need to be tested with a larger group of children with autism diagnoses to see if the results can be repeated. Feasibly to save money on lab tests all newborns might be screened with the set of five most predictive lab tests and the infants who are positive for those five might then be screened for the second set of five tests or all ten of the other biomarkers. The fifteen biomarkers include calcitonin (increased) and Thyroid Stimulating Hormone (TSH, decreased). Low TSH levels can cause increased calcitonin levels which causes reduced blood calcium levels. Elevated blood levels of calcium may cause an increase in calcitonin and having adequate levels of hormone 1, 25 D may be necessary for keeping calcitonin levels within a normal range. [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC442503/]

Vitamin D was not one of the 90 lab tests that were included in this research study, however the sibling study performed in Sweden suggested that low vitamin D at birth is involved but that other factors are also involved because all of the children born to Somalian refugees were found to have low vitamin D so that lab value would not be helpful as a screening test. 2) Swedish Study Suggests Low Vitamin D at Birth May Increase Autism Risk [https://www.autismspeaks.org/science/science-news/swedish-study-suggests-low-vitamin-d-birth-may-increase-autism-risk]

Alpha feto-protein (AFP) is one of the fifteen biomarkers found to be predictive for autism later in life. Levels of AFP have been found to be increased in both the mothers of infants who develop autism later in life and in the infants who develop autism later in life. Buy the research study to find out the other twelve – feasibly a concerned parent (with money and a cooperative physician) might be able to have their newborn’s blood screened for the fifteen biomarkers on their own initiative, right away, rather than waiting for the mainstream medical industry to do further research studies.

— The fact that autism was unknown in Somalia suggests that it is unlikely to be a naturally occurring condition and that it is unlikely to be caused by a lack of anti-autism medicine or by the lack of an anti-autism vaccination, so waiting for the for-profit medical industry to devise a for-profit strategy to prevent autism seems like it might take awhile. Concerned parents should have a right to seek effective care for their children and for themselves.

Autism seems to be a condition that occurs prenatally which leaves the newborn infant with metabolic differences but who otherwise appears normal and then, depending on nutritional and environmental conditions, at around age two to four the child’s development shifts towards symptoms of autism. The goal of newborn screening would be to identify which infants are most at risk for that later shift towards autism so that they might be able to be given additional care in order to prevent the damaging autoimmune like changes to the child’s brain. A few different genetic defects that affect nutrient needs may be involved so a newborn who is identified as high risk for developing autism symptoms later in life might then benefit from being screened for genetic defects in the methylation cycle, or with the vitamin D binding protein, or with hemoglobin metabolism. Infants identified as more at risk for autism later in life may also benefit from being screened for hypothyroidism, iodine deficiency, or an excess of bromide, chloride and fluoride.

In summary, for now, this is complicated but very exciting — we have the information we need in order to help women prevent autism before conception and to help identify which newborns may be more at risk for developing autism symptoms later in life so that we can help give the infants the additional nutritional and environmental support that might help them prevent the longterm autoimmune like brain damage from ever occurring.

Older individuals who already have autism diagnoses may also be helped by additional nutritional and environmental support (reduce their exposure to pollutants and foods or foods additives that their unique metabolism can’t digest as well as average) but a “cure” for the changes that already occurred in the brain may not be possible for children and adults who have already been diagnosed with an autism spectrum disorder. Individualized nutritional support might help reduce negative symptoms and improve quality of life for patients who already have an autism diagnosis.

/Disclosure: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./

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A few perinatal tips that may help reduce risk of autism for the expected infant

The term Perinatal generally refers to the one to three months prior to conception. A woman might be advised about healthy diet and exercise habits during perinatal health education and would likely be encouraged to take a prenatal vitamin supplement during a time when she is trying to conceive.

The summary of potential risks associated with autism in the last post suggest that there are two basic groups of health tips for reducing risk of autism perinatally or prenatally:

  • tips for avoiding toxins from the environment; or for reducing internal production of toxins that are a result of the stress response, or are due to undiagnosed metabolic defects;
  • and tips for increasing intake of healthy nutrients; or strategies for identifying and treating any undiagnosed metabolic defects or low-grade chronic infections that may be causing nutrient imbalances or deficiencies.

This first set of tips will focus more on avoiding toxins from the environment and includes primarily recommendations that are already standard for perinatal or prenatal health.

For a woman of reproductive age:

  1. Don’t have unprotected sex after drinking a Rum and Diet Cola that is sweetened with aspartame/Nutrasweet.
  2.  Don’t have unprotected sex after drinking a Rum and regular cola either or any other beverages that contain alcohol.
  3. After drinking a Diet beverage that is sweetened with aspartame/Nutrasweet, don’t have unprotected sex with a male partner who has been drinking alcohol in excess. (A male’s alcohol intake during the few days prior to sexual relations may increase a baby’s risk for Fetal Alcohol Syndrome so it may also be involved in the infant’s risk for autism – more research is needed but in the meantime we do know conclusively that alcohol and Nutrasweet isn’t good for fetuses. Males produce sperm throughout their lives while women develop a large number of eggs during the fetal stage which are then released one or a few at a time each month throughout her reproductive years, approximately from age 10-12 through age 45-55. A woman’s health habits during a pregnancy with a female fetus will be affecting the health of any potential grandchildren that the daughter may have later in her life.)
  4. A regular cola or root beer may be better choices for beverages to drink before having unprotected sex. Brominated vegetable oil may be a food additive in citrus flavored beverages such as Mountain Dew and the chemical is in the same group as the flame retardant polybrominated diphenyl ethers which have been associated with brain development problems in children, fertility problems, and increased risk for hypothyroidism and cancer.[http://www.webmd.com/food-recipes/20130129/brominated-vegetable-oil-qa?page=2]
  5. If you are a woman with leprosy being treated with thalidomide then do your best to not have unprotected sex, possibly invest in a longterm family planning method such as an IUD or Essure for use during the treatment with thalidomide.
  6. If you are a woman being treated with valproic acid for bipolar disorder, migraines or for some other reason then do your best to not have unprotected sex, possibly invest in a longterm family planning method such as an IUD or Essure for use during the treatment with valproic acid.
  7. If you are a woman being treated for autoimmune disease, hypothyroidism, obsessive-compulsive disorder, schizophrenia, or depression then it may be a good idea to not have unprotected sex at least while your disease is in a more severe stage. It might be a good idea to invest in a longterm family planning method such as an IUD or Essure for use while you’re being treated for a severe chronic disease or mental illness. Rubella, cytomegalovirus, stress, and allergic reactions have also been associated with increased risk for autism, so avoiding unprotected sex during acute sickness, stress, or allergy flair-ups might also be a good idea.
  8. In case you missed the theme – try to avoid having unprotected sex unless you are healthy and toxin free and your partner is also – it is not easy to grow a baby. And if you are in a relationship with someone who is not willing to discuss or plan for a safer pregnancy then it may be worth ending the relationship or seeking help. [http://www.reuters.com/article/us-health-sexassault-coercion-idUSKCN0R42CD20150904] (In the U.S. call the National Domestic Violence Hotline for support and referrals: 1-800-799-7233 | 1-800-787-3224 (TTY), http://www.thehotline.org/ )

The perinatal time period is a time to prepare a healthy and welcoming environment so the egg and sperm will be able to successfully implant as a healthy little zygote (the fetal stage where the egg and sperm have combined into a single cell). “One-half of all pregnancies in the U.S. are unintended.” – Population Connection [From a handout: “Our Mission At Population Connection is Critical!,” 15AK-1l]

If we hope to reduce the rate of children born in the U.S. who later develop autism, and it is a problem that develops during the early weeks of pregnancy, then we really need to reduce the rate of unintended pregnancies. If autism is able to be prevented in the first week of pregnancy then women will need to either always be healthy and ready for an unexpected pregnancy (because rapists wouldn’t want their love power-and-domination-child to be autistic, surely?) or women will need to plan and prepare before trying to become pregnant so that their body will be as healthy and as ready to receive the implantation of the zygote as possible.

/Disclosure: This information is provided for educational purposes within the guidelines of fair use. While I am a Registered Dietitian this information is not intended to provide individual health guidance. Please see a health professional for individual health care purposes./