National Autism Association Friday's notes

[Debi]

I had the extreme honor of attending the NAA conference in Atlanta. Some have asked about autism, thought this might help explain some of the issues we parents are dealing with. I did have the extreme honor of speaking to Dr. Andrew Wakefield, as well as telling Jenny McCarthy about TN's dismal services, particularly early intervention. Her jaw dropped open as I explained what we do not have.

Friday morning. The first speaker was Katie Wright. She was very clear in her statements regarding her beliefs that vaccines caused/contributed to her son’s autism. She stated that she believes we need real funding for real studies. An audience member asked her why Autism Speaks wasn’t doing that. She stated that she is not a spokesperson for AS, but feels that AS is heading in that direction. Her parents were in the audience.

After Katie I went to the breakout session of Dr. Jill James. She is a biochemist who has done research regarding oxidative stress and metabolic pathology of autism. She went VERY quickly so I may not understand all of her statements. She spoke about the metabolic pathways involved with methionine. Methionine à SAM à SAH à homocysteine à cystathionine à cysteine à glutathione I believe during the conversion from methionine to homocysteine folate is used along with MTHFR enzyme. If I understand it correctly MTHFR is responsible for folate usage. Additionally, the folate cycle using the MTHFR uses folate and b-12 to help convert homocysteine back to methionine. If this cycle is disrupted, it can’t convert the homocysteine back to methionine, so homocysteine builds. Without the homocysteine returing to methionine, it can’t be converted to SAM, which helps with methylation or making adenosine, part of ATP that our body uses for energy. Homocysteine is associated with heart disease and other nasty stuff.

The cysteine to glutathione then becomes a redox homeostasis between GSH & GSSG. When it gets out of whack, lots of problems can happen. Glutathione is a major antioxidant player. It’s composed of glycine, cysteine, and glutamate. The SH group in the cysteine is very important for glutathione to work for metal detoxification because the S is a sulfur group. Glutathione works with superoxide, hydroxyl radical, peroxynitrite, and membrane lipid peroxidation. If, for what ever reasons, glutathione isn’t available, a major piece of antioxidant defense is gone. Things that decrease glutathione include bacterial infection, viral infection, metal exposure, etc. One major theory is when infants are given bolus doses of mercury (still in some infant vaccines) and aluminum (in all of them, as far as I know) and then live viruses are injected, it makes it very hard on available glutathione to properly react. In addition, if the infant has had an ear infection or given Tylenol, which suppresses an enzyme that helps make gluathione, it further suppresses the body’s ability to have enough glutathione.

In studies Dr. James quoted, autism children has decreases in methionine, SAM, increases in SAH compared with controls. This gives some evidence of reduced methylation capacity in those with autism. Additionally, the autism group had reduced cysteine, reduced free gluthione and significantly increased oxidized glutathione, which means that glutathione is “used up.” This finding gives further evidence that oxidative stress in those with autism is increased significantly compared with typical children. One mention she made of these findings is that the profiles mentioned are in those already diagnosed with autism. One thing researchers desperately want to know is if these issues were present before the onset of autism, or after. It could be an important marker for early predictions if it occurs before.

Another interest, a study took lymphoblastoid (lymph stem cells) from those with autism and at least one affected sibling, cultured, and given varying levels of mercury exposure, along with controls. IT was found that cells from autism generate more free radicals than controls. IT was also found intracellular free glutathione (unused) levels were lowing in those with autism, and “used up” glutathione was higher in those with autism than typical. Also the glutathione redox ratio was far lower in those with autism than controls. It was concluded based on the study that it reflects and inherent genetic difference. However, a question I had that I never asked is if these cell lines are from those who already had autism, is it possible the stem cells underwent some sort of genetic change if an injury of some sort led to that change. In other words, why was the gene different, born that way or changed with onset of autism?

Results of low glutathione & increased oxidative stress is a reduced ability to detox environmental toxicants and heavy metals (can you say mercury), oxidation can occur on the active SH group from cysteine, which can lead to abnormal methionine metabolism and/or altered membrane signaling; increased mucosal membrane permeability or malabsorption; and altered Tcell subpopulations, leading to autoimmunity and/or gut inflammation.

There is also some evidence for DNA hypomethylation in that DNA methyltranserases add a methyl group from SAM to cytosines located at CG dinucleotides in a double-stranded DNA. DNA methylation patterns are established during embryogenesis and are heritable, just like mutations. Now here’s where I get confused. To me it should be the opposite, but she states that DNA methylation during embryonic development is dependent on correct DNA methylation and in general methylated genes are permanently turned OFF and Unmethylated genes are turned ON. Seems to me the opposite would happen, but I’ve been known to be a little “opposite” the way things are, lol. Examples of tissue-specific gene expression related to methylation issues are extra X chromosome activation in females (seems like men have this sometimes, too) parent-specific methylation, and suppression of viral DNA insertions or retroviral transcripts – I believe this is what happens in HIV.

Examples causes of abnormal DNA methylation are: mutations of the MTHFR 677TT SNP when combined with a low folate diet; dietary deficiencies from lack of methyl group providers from folate, b12, b6, methionine, and choline; environmental exposures from arsenic, mercury, cadmium, nickel, valproic acid, and alcohol. They know that fragile X, rett, angelman, and reelin gene are all issues with methylation at various genes.

Another issue with methylation issues: reduced carnitine synthesis (might explain the high seizure levels in those with autism) in that sythesis of lysine to carnitine requires 3 SAM methyl groups; reduced creatine synthesis (I’m not sure if this is the same as creatinine, something Allie’s had ongoing problems with no one will address), and reduced CNS myelination.

MOMS OF KIDS WITH AUTISM OR PROSPECTIVE MOMS: Dr. James has found moms of kids with autism have lowered GSH and high GSSG. This means moms are showing oxidative stress. She suggested all moms get their homocysteine levels checked because even the average doctor should be familiar of the dangers of elevated homocysteine associated with heart disease and other problems, and it can be easily brought down with vitamin supplementation. I would go one step further based on the evidence and suggest any woman of childbearing age consider this for proper supplementation prior to conceiving, especially where history of autism is present. No secret that women should have folate, that’s because lack of it causes methylation problems that leads to spina bifida. Could it be that getting more supplementation could help set up our babies for a boost of prevention?

Treatments: She found when methylb-12 injections were given 3x/wk (I believe Neubrander protocol), along with 400micrograms of folinic acid to children age 3-7 with autism and no previous supplements, improvements were noted from parents, and cysteine normalized after 3 mos. This should boost active GSH and lower oxidative gluathione. One parent asked about her son, who could not seem to tolerate the slightest of these, despite having labs showing he was in need. Dr. James said there is definitely a subset of kids who cannot tolerate it and right now she doesn’t know why, but really wants to know why. She also said TMG is only found to benefit about 30% of the kids. I found this statistic interesting because TMG is supposed to help seratonin, and this is about the same figure for kids who are helped from SSRI therapy. However, some kids cannot tolerate TMG but do beautifully with SSRI therapy.

Dr. James also brought us back to the autism triad of brain-gut-immune axis, as she calls it. Examples are: gut & brain interactions of vagus afferents, gut neuropeptides, endorphins, and neuropeptides; immune & brain are cytokines, microglia activation, endorphins, neuropeptides, and cortisol; immune & gut are cytokines, gut neuropeptides, microbial products. She stated all 3 systems are highly sensitive to oxidative stress, esp during critical developmental windows. Genes and environment can interact with each aspect.

She stated her current working hypothesis is: An inability to control oxidative stress may be central to the development of neurologic, immunologic, and gastrointestinal dysfunction that occurs with autism.

After lunch I got to listen first to Dr. Krigsman then Dr. Wakefield, who was here, despite the ongoing witch hunt in London. I found them both to be very “doctorish” in that they never stated vaccines cause autism or that they even know the cause of autism, as they have maintained throughout their research, despite lies from the media and some government. They were not like doctors, however, because they stated that we need to find what’s hurting these kids and do it now. He showed pictures of different ways those with autism will behave, including laying in the floor that many perceive as masturbation that is actually trying to relieve gut pain. He showed one pic he felt was very telling of a kid leaning over the side of a coffee table with the end pressing deep into the abdomen, as if he was trying to help push his feces through. He also showed pics of kids squatting over the commode in their attempts to defecate, explaining that particular stance is a position pregnant women use in birthing babies and he feels children with autism tend to stance this way to help eliminate themselves.

On more specific issues relating to the gut. He defined diarrhea as loose stools from a “chocolate pudding to mashed potato” appearance. They still don’t know why so many kids with autism have grainy feces, or what the grains are. The stools also tend to be malodorus, have visible undigested food, kids have irritability, tantrums, attempts to withhold. Also said a yellow/gold color is a common complaint that he believes is related to how fast bile is moving. Constipation was defined as a bm only once every 4-10 days, but it often still looks like diarrhea.

He believes a few things are interacting. One, he feels a lot of autism gut problems are motility issues, that the feces isn’t moving through as it should. He said it’s not uncommon for parents to report having to plunge from the volume of feces that comes out. He gave several very disgusting pictures of feces. It’s amazing how it always comes back to crap with autism!

He also showed scopes of kids with autism he sees over & over again with small bowel inflammation, primarily of the ileum. This is where all the measles virus is being found, if I understand it correctly. He said in the last couple of years the pill cam has significantly enabled them to view the ileum and other regions. Typically what they see are small individual spots of inflamed white areas surrounded with red circles. Over time these spots tend to make linear patterns that often times turn into ulcerative colitis. They see in the colon lymphoid hyperplasia and stated that doctors cannot ethically ignore these signs when symptoms are presenting. Also found are eosinophil-laden esophagitis. Also seen in the upper is barrett’s esophagus.

Treatments: antiinflammatories, steroids, mast cell stabilizers, leukotriene inhibitors, immunosuppression, 5-ASA, alteration of flora, antibacterials, probiotics, prebiotics, and antifungals all have a role in treatment. There is a thought that any abnormal immune response may cause good flora to turn bad. Also mentioned was enzyme therapy, along with prokinetics to help increase gut motility. Also sometimes treatment of incidental bowel pathology is needed, such as GERD, H pylori, etc. He also highly recommends doing it in conjuction with aggressive biomedical and behavioral therapies.

Dr. Wakefield next spoke about various studies and findings. One thing many people ask are how many kids with autism impacted by bowel problems. The various studies show between 76% to 100%. Additionally, the rate of autism is now believed, based on Baird and Cambridge studies that autism is less than 1 in 86. He also told of a study where mice had bowel damage deliberately done to measure the brain. In the studies various aspects of brain function were altered. He also questions if the bowel problems seen in kids with autism are very early stages of Crohn’s Disease. He also discussed cytokines as being upset, but I can’t remember the specifics.

We then returned to hear Jenny McCarthy speak. She had left during the day to do a CNN interview, then she stopped by the CDC, who would not allow her to enter the taxpayer-owned facility. She placed some called to the various leadership prior to her speech, then made a speakerphone call to have us all say hello. I’m not sure how many people were there, definitely in the 100’s. Probably 500 or more. Her son’s speech pathologist also showed videos made through UCLA to teach children play skills. From my observation, this form of teaching is faster and more naturalized than ABA. I’m hoping to speak with her in the morning regarding the comparisons of it to ABA. It’s definitely more affordable and a great alternative to ABA therapy, which seems impossible to get in my region anyway. I also have questions about video for older children and more complex issues, such as social skills for teens.