Recently autism was in the news as the wife of deceased Bob Denver, who was the actor Gilligan from Gilligan’s Island and founder of The Denver Foundation to help children with disabilities, has written a book where their son Colin’s problem with autism is described. Autism is a relatively new disease entity. We are now talking about the autism spectrum disorder, as autism is a certain behavior/symptom constellation that is expressed with different degrees of severity in children who are diagnosed with autism. Autism is much more common in males than in females. In the following I will discuss risk factors for autism, then review why it is so important to diagnose autism right away so that treatment for it can be started earlier than in the past.
Risk Factors For Autism
Autism has been found to be due to a combination of factors.
1. Compared to a few decades ago women are often older than 30 and men frequently older than 40 when they decide to have children. But studies have shown that when a man fathers a child at the age 40 or older the risk of the offspring to develop autism is higher than when the father is younger than 30.
2. A woman above the age of 30 is already getting into the older age category from the viewpoint of reproduction where the natural production of progesterone from her ovaries, which is paramount for keeping a pregnancy alive in the first 10 to 12 weeks, is declining. Also, the placenta of a pregnant woman above the age of 30 is not producing as much progesterone as a woman in her early or mid 20’s. However, a high progesterone production of the placenta is necessary to prevent premature labor. The consequence of this can be that older women give birth to premature, underweight children (Ref. 1 and 2) who are at a higher risk to have neurological problems including autism. Children with a low birth weight have 5-times higher autism rates when compared to children with a normal birth weight. When a woman has gestational diabetes there can be overgrowth of the fetus and like for prematurely born, underweight children there is a definite risk for a baby born much later than the expected date to develop autism.
3. There are genetic and epigenetic factors that can trigger autism. Shank mutations are responsible for idiopathic autism spectrum disorders (ASD) both in humans and in mice. This confirms an earlier study from 2006 in France where Shank 3 gene mutations were found in human autism cases. Recently research from Stanford University identified another genetic mutation, namely neuroligin-3 amino acid substitution and a neuroligin-3 deletion, which can be responsible for autism in mice. Epigenetic switches play an important role in the placenta, which according to research from the University of British Columbia, Vancouver/BC is likely the key for understanding autism. Another publication also stresses the importance of epigenetic switches in the development of autism. Stress during pregnancy can lead to changes in placental biochemical pathways, which causes prenatal epigenetic programming in the direction of autism. More research will be done regarding genetic causes of autism. However, it appears that the various research findings are converging to only a few key biological processes.
4. A lack of serotonin from the placenta may lead to autism in the fetus as this publication shows.
5. Certain toxins such as PCB can disrupt the development of normal neuronal pathways in autism as is summarized in this paper. Even a frequently used anti-epileptic drug, valproate (Depacon), has recently been identified as causing a 5-fold increase in autism during pregnancy.
6. In April 2009 a study from the Karolinska Institute investigated a Somalia refugee subpopulation that were found to have high autism rates in Sweden and in the US, due to very low vitamin D levels during the pregnancy. The theory was developed that at least one of the causes for autism can be vitamin D deficiency in the mother’s womb. A lack of Vitamin D may be the epigenetic trigger to change metabolic processes towards those subtle metabolic changes occurring in autistic children.
7. In 2007 this study showed that the typical delay of the diagnosis for autism in the US was about 18 months and that the average rate at this point was 1 in 150 live births.
8. Apart from these factors there are other observations that are closely related to the diagnosis of autism. Children with autism show remarkable brain growth during the first year of life, but subsequently have a period of slowed brain development (Ref.5). There seems to be an inflammatory process associated with the neuropathological changes in the brain resulting in disconnections and a lack of communicative connections between various parts of the brain. This leads to a lack of higher brain functions like speech and social skills. MRI scans have shown specific changes in some severe cases of autism, but this is not uniform enough between cases to use as a diagnostic tool. The author of Ref. 5 uses a “biomedical approach”, which assumes that autism is a syndrome that is genetically based, but triggered by certain factors as listed above (point 1 to 6 and possibly more) during the time of the pregnancy, in the neonatal period and in early infancy. This leads to the changes in the gut (leaky gut syndrome), in the central nervous system, to food allergies, autoimmune reactions and metabolic changes. According to Ref. 5 biomedical practitioners have remarkable treatment successes by identifying where the problems are and treating each one of them.
Diagnose Autism Now
DAN (“diagnose autism now”) physicians who take a special interest in children with autism have shown that an early diagnosis of autism and early intervention with a well-orchestrated treatment protocol can lead to good outcomes, where the child is often losing the diagnosis of autism and developing normally. DAN physicians are changing into the Medical Academy of Pediatric Special Needs (MAPS), but the goal of helping autistic children early is the same. I have described the multi-step treatment protocol under Ref. 3 in the Net Health Book.
Briefly, a multitude of medical tests is done initially to establish the diagnosis and the severity of autism. This gives the doctor the basis for a personalized treatment approach. A combination of hyperbaric oxygen (HBOT) and detoxification with intravenous chelation treatments can remove toxins and heavy metals from the body. Stool samples can determine whether Clostridium difficile or Candida albicans is present, which are appropriately treated. Dysbiosis , a term to describe an abnormal gut bacteria mix, is common and needs to be rectified with probiotics. If leaky gut syndrome is present (in 43% to 76% it was shown to be present in three different well controlled studies, Ref. 5), this may also point to food allergies and autoimmune problems that have to be addressed as well. Along the line of abnormal gut bacteria in autistic children, new research is considering the development of a vaccine to help normalize gut bacteria.
There appear to be a number of metabolic weaknesses that have to be diagnosed, as there are wide variations among autistic children. Ref. 5 points out that methylation defects in the metabolism are common and the blood is lacking antioxidant enzyme systems. As a result there are weaknesses in the immune system and detoxification of heavy metals (such as mercury) is often slow. There have been many studies, which were reviewed in Ref. 5, where it was shown that multiple vaccinations have not been the main culprit to lead to autism, it is the metabolic weaknesses of an autistic fetus and/or child that led to slow detoxification to the point where exposure to polluted air and seafood, even consumption of seafood of the pregnant mother in the womb, could cause high levels of mercury in the infant (due to methylation, sulfation, and antioxidant deficiencies).
Another observation that is important is that autistic children have 23% lower levels of omega-3 fatty acids in their blood than controls and 20% lower levels of polyunsaturated fatty acids (Ref.5). Omega-3 fatty acid supplementation is therefore important. As omega-3 fatty acids have anti-inflammatory effects, it also helps to combat the inflammation mentioned above. Ref. 5 also points out that autistic children are often put on a gluten-free, casein-free (GFCF) diet as autistic children are more vulnerable to food sensitivities, particularly gluten and casein. This is a practice done to prevent or improve on leaky gut syndrome. However, Ref. 5 points out also that testing methods (RAST test, IgE and IgG tests) for gluten and casein sensitivities are unreliable and not reproducible. The only practical method to find out what foods autistic children will tolerate is a painstaking food elimination and retesting program. Whatever food component is suspected to cause worsening of autism is eliminated from the menu for a period of time; it can be reintroduced as a challenge test several months later to see whether it is still causing problems. On the other hand the child needs a balanced nutrition, which can be very tricky with autistic children often being picky eaters.
The key is to pay attention to all of the pieces of the puzzle and to use remedies to address the issues at hand regarding a particular autism patient. This can be quite costly, but those patients with autism who received the benefit of early intervention at the age of 2 or 3 when the diagnosis was first made, became normal children, possibly even more gifted than the average child in their age group.
Whether or not autism exists is no longer the question. The question is how early the treating physician can diagnose it. Under point 7 above researchers found that the diagnosis is often made 18 months too late! With an early diagnosis and early intervention autistic children can grow up to be productive members of society with no residual features of autism. If the diagnosis is missed early on, it develops into a life long disability requiring constant care and supervision. I suspect that it is the epigenetic changes mentioned above, possibly from pollution of our environment and the other factors mentioned that may switch genetic switches into the wrong direction (namely towards autism, autoimmunity, leaky gut syndrome and brain dysfunction). Children are much more sensitive than adults, which would explain the explosion of cases of autism in the last few decades. But looking at the other end of the life cycle (old age) we are also seeing effects on the central nervous system with an enormous increase of dementia and Alzheimer’s disease in the last few decades. Could there be similarities? Future research will tell.
Use of progesterone reduces chance of miscarriage: next 2 references (Ref. 1 and 2):
3. Autism chapter in Dr. Schilling’s Nethealthbook.com: http://www.nethealthbook.com/articles/autism.php
4. More on DAN physicians: http://autism.about.com/od/alternativetreatmens/f/dandoc.htm
5. Rakel: Integrative Medicine, 3rd ed.Copyright © 2012 Saunders, An Imprint of Elsevier; Chapter 7 – Autism Spectrum Disorder: Sanford C. Newmark, MD
Last edited April 28, 2013