New Autism Cure - breakthrough treatments and cures for autism

If you have read my previous blog posts, you will know that I do not believe that autism is caused by just one thing but that it is a multifactorial condition which can be caused by a number of factors -so, is genetics one of these factors?

Research Linking Genetic Defects and Autism

There is a significant amount of research out there that links autism spectrum disorders with genetic defects. Here’s what studies have found:-

• The work of geneticist Thomas Bourgeron - Bourgeron, a French geneticist, published a study in 2003 that showed that families of several autistic children had mutations in the NLGN3 and NLGN4X genes which led to a complete loss of function in these genes, triggering autism in the children. These two genes are responsible for the manufacture of neuroligin proteins which are needed by the body for the structure of nerve cell contacts.
• Gottingen Study - A study in Gottingen, published in the scientific journal “Neuron” and in Science Daily in September 2006, like Bourgeron’s work, showed that neuroligin proteins are essential for transmitting signals between nerve cell functions and that the brains of genetically altered mice, which did not have neuroligins, did not function properly because the synapses (the contact points at which the nerve cells communicate) never matured. The researchers of this study concluded that autism patients suffer with similar malfunctions due to neuroligin mutations.
• The work of Mark J Daly - Research headed by geneticist Mark J Daly of Massachusetts General Hospital has found that the risk of autism is increased one-hundredfold by “deletions or duplications of a specific small segment of chromosome 16″. The research team found this genetic defect in autistic children but not their parents, which suggests that sometime after fertilization there was spontaneous mutation in the location 16p11.2, a location known as a “genetic hot spot” because it is so susceptible to mutations.
• A defect in the CNTNAP2 gene - Three different research groups all reported in January 2008 (in the American Journal of Human Genetics” that a defective CNTNAP2 gene (also known as contactin-associated protein-like 2) was linked to autism and that it increased the risk of autism by 20% in children who inherited the gene from their mothers, although a mutated gene could be inherited from the father too.
• The work of Eric Morrow and Christopher Walsh - Morrow and Walsh, who led a research team from Harvard University, found that a set of six genes that are linked to brain development in the first year of a baby’s life are abnormal in many children with autism. The researchers also made the breakthrough that these 6 genes were not always completely deleted in children with autism, but that in some cases mutations in the surrounding control regions of the children’s DNA were keeping the genes “switched off”. This was encouraging as it could mean that therapy or medication could be used to activate the genes and allow normal brain development.
• Mitochondrial Disease and Autism - Dr John Shoffner, president of Medical Neurogenetics and an associate professor of biology at Georgia University, completed a “retrospective analysis” of 37 autistic children and found that 65% of them had mitochondrial defects. In other large studies, Shoffner says that 20% of children with autism have been found to “have markers of mitochondrial disease in the blood”.
• Gene mutations in 27 different genetic regions linked to autism - Research by geneticists from The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine and other institutions, found that there are 27 different genetic regions in autistic children where there are missing or extra copies of DNA segments, but that these are not found in healthy children. It is thought that the combination of genetic deletions and duplications interferes with gene function, disrupting the production of the proteins needed for proper brain development.
• US National Institutes of Health Research - A report by BBC News stated that research funded by the US National Institutes of Health found that genetic factors play a strong role in autism and that autism cases could be cut  by 15% if one common genetic variant was corrected. The research found that genetic variants of two genes found on chromosome 5 were linked to autism spectrum disorders.

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We’ve all heard the saying “breast is best” and it is fantastic that women are being encouraged to breastfeed their babies because it has so many benefits for both mother and baby.

This month has been chosen by the US Department of Health and Human Services as National Breastfeeding Awareness Month and the department has launched a campaign to highlight the benefits of breastfeeding .

Breast fed babies are at a lower risk of:-

• Allergies
• Sudden Infant Death Syndrome
• Gastrointestinal problems
• Urinary tract infections
• Childhood leukemia
• Respiratory infections
• Ear infections
• Insulin dependent diabetes mellitus
• Necrotizing enterocolitis
• Obesity
• Infections

Women who have breastfed/are breastfeeding their babies:-

• Have a lower risk of contracting breast cancer, ovarian cancer and Type 2 Diabetes
• Are at a lower risk of Postpartum Depression
• Burn 500 calories a day by breastfeeding alone and so can return to their pre-pregnancy weight quicker
• Can save a significant amount of money when compared to those who buy formula - It is estimated that a breastfeeding mom can save between $1,160 and $3,915 depending on the brand of formula the comparison is made against.

Moms are advised to give their babies breastmilk alone for the first 6 months of life (i.e. no weaning) and to try and breastfeed for the baby’s first year.

Breastfeeding and Autism

But hasn’t breastfeeding been linked to an increased risk of autism?

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As you know, it is not known exactly what causes a child to develop an autism spectrum disorders and many doctors and scientists, myself included, believe that autism is a multi-factorial disorder, meaning that it can be caused by a number of different factors or a combination of factors. These factors can include environmental factors, genetics, vaccines, food intolerances and pregnancy and birth complications.

Today, I’m going to examine evidence that points to autism spectrum disorders being caused by complications at birth. In their book ” A Parent’s Guide to Asperger Syndrome and High-functioning Autism”, Sally Ozonoff, Geraldine Dawson and James McPartland talk about the link between complications in pregnancy, labor and birth, and autism spectrum disorders, saying that:

“A number of pregnancy, labor and delivery complications have been noted in the histories of children who later turn out to have autism spectrum disorders, such as maternal bleeding during pregnancy, high blood pressure in the mother leading to toxemia, prematurity, and oxygen deprivation during or shortly after birth.”

However, Ozonoff, Dawson and Mc Partland point out that these complications are also found in the birth histories of children with mental retardation, cerebral palsy, speech and language difficulties, and learning disabilities, so they wonder if actually these birth complications cause differences in the brain, rather than autism specifically, or whether actually it is the autism that causes the birth complications.

You might think that it is very strange to believe that it is the autism that causes the pregnancy and birth complications, rather than the other way round, but Ozonoff et al. point out that in the case of Down Syndrome (a disorder that is determined at conception), mothers of babies with Down Syndrome have a higher than average rate of experiencing pregnancy and delivery complications - interesting!

Studies into Birth Complications

There are, however, a number of studies which suggest a link between pregnancy, labor and delivery complications and autism. Here are four examples:-

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Is there a link between the usage of pitocin, an artificial hormone given to induce or speed up labor, and the rise in autism statistics? Are we causing autism by our use of such drugs in the birth process?

The theory of a link between pitocin and autism is a controversial one, and a rather worrying one, but it is something that needs further research so that we can rule it out or do something about it.

It first entered the public forum when Geoffrey Cowley, a Newsweek reporter, interviewed physician Dr Eric Hollander of New York’s Mount Sinai School of Medicine for an article back in July 2000 (see http://www.newsweek.com/id/85572/page/1 for “Understanding Autism” article). Dr Hollander had made the startling discovery that 60% of his autistic patients had been exposed to pitocin in the womb, when their mothers’ labors had been induced, and said:-

“In some individuals whose oxytocin system could be genetically vulnerable, a strong environmental early hit while the brain is still developing could down-regulate the oxytocin system, leading to developmental problems. But this is only a hypothesis that has been observed by association.”

What is Pitocin?

Pitocin is a synthetic version of oxytocin, a hormone that is naturally produced by a woman’s brain to produce spontaneous labor. When oxytocin is produced in the woman’s body, it triggers uterine contractions which cause the woman’s cervix to dilate and which also propel the baby through the birth canal. When a woman goes past her due date or needs to be induced for some reason, pitocin can be used to artificially induce labor or speed things up.

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Ultrasounds are something that we all take for granted in modern day pregnancies and they are a vital diagnostic tool used by obstetricians, midwives and health professionals all over the world.

What are Ultrasounds?

Ultrasounds, also known as obstetric sonograms, obstetric sonographies and pregnancy sonograms, are imaging tests that use soundwaves to form a picture of the developing fetus in the womb, and also the placenta. The ultrasound scanner produces high frequency soundwaves which pass through the body and bounce back off bones and tissue, forming an image of the fetus which is then available on the scanner screen.

There are seven main types of ultrasound scan: transvaginal scan, standard ultrasound, advanced ultrasound, Doppler ultrasound, 3D ultrasound, 4 D ultrasound (or 3D Dynamic ultrasound) and Fetal Echocardiography. Although these ultrasounds are slightly different and look at different things, they all use the same technology.

There is no recommended number of ultrasounds in pregnancy and the number of ultrasounds a woman will be offered depends on her circumstances, her healthcare provider and whether there are any concerns regarding the pregnancy.

Ultrasounds in the first trimester are used to confirm whether the pregnancy is viable, to give a due date, to confirm heartbeat and also assess whether the pregnancy is ectopic. In the second trimester, ultrasounds can be used to diagnose any abnormalities or malformation of the fetus, to check on growth and development, assess whether it is a multiple pregnancy, confirm the death of the fetus where this is suspected, and identify problems such as excessive or reduced levels of amniotic fluid. In the third trimester, ultrasounds can be used to find out the location of the placenta, confirm death of the fetus if it is suspected, to check on the growth and development of the baby, to confirm presentation of  the baby and to check whether the woman has any pelvic or uterine abnormalities which could cause problems.

Ultrasounds and Autism

You may be wondering what on earth ultrasound scans have to do with autism. Well, although ultrasound scans are deemed to be a vital diagnostic tool and can determine whether there are any problems with the fetus that need to be acted on, perhaps with an emergency c-section, ultrasounds may have some effect on brain development in the fetus.

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Mercury

Last week, I wrote about how some scientists believe that stem cells can treat autism because they believe that autism is characterized by hypoperfusion (a reduction in the oxygen supply to the brain) and immune dysregulation. Scientists like Dr Leonard Smith believe that stem cells can increase blood flow, and therefore oxygen, to the brain and also treat inflammation in the gut. This sounds like great news but can stem cell treatment really “cure” autism?

Well, the simple answer is that it depends what you think is the cause of autism and autism symptoms. If you are of the opinion that autism is caused by a birth injury, a lack of oxygen at birth, then you will believe that stem cell treatment can be beneficial. However, if you believe, as I do, that there are many factors involved in causing autism and exacerbating symptoms, then you cannot believe that stem cell treatment is going to effectively “cure” autism, although it may offer short-term relief and recovery.

Environmental factors that may be involved in causing autism include:-

• Heavy metal exposure - Heavy metals in our environment include mercury, cadmium, manganese and lead.
• Pollutants - Chemicals like phenol, PCBs, dioxins, nicotine etc.
• Vaccines - The MMR vaccine, vaccines containing thimerosal and our program of childhood vaccines.
• Vitamin and nutrient deficiencies - Vitamin A, B and D deficiencies, deficiencies in essential nutrients like amino acids, Essential Fatty Acids and minerals.
• Food intolerances - Foods like gluten and casein causing gut inflammation or causing the production of peptides which acts as opiates on the brain.
• Candida Yeast - An overgrowth of candida yeast in the gut.

How can stem cell treatment possibly combat any of these factors?

It can’t.

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I’ve blogged before about reducing your child’s toxic load to help alleviate symptoms of autism, to cut the risk of autism in subsequent children and to have a healthier home, and today I’m going to talk about one particular chemical and toxin, phenol.

What is phenol?

Phenol, or carbolic acid, is a chemical that both occurs naturally and that can be manufactured. It ranges from being a colorless liquid to being a white crystalline solid and has a distinct sickly sweet or “tarry” smell which is often associated with the smell of hospitals.

Phenol is used in many different products. It is used to make phenolic resins which are used in industries like the automotive, plywood, appliance, nylon and construction industries, and it is also an ingredient in disinfectants like Lysol, antiseptics, cleaning products, medicines, mouthwashes, lozenges and ear and nose drops.

Phenol can also be found in food, as gallic acid and malvin.

Dangers associated with Phenol exposure

There are many dangers associated with dermal (skin) or oral (ingesting it) exposure to phenol, and also breathing it in. These dangers and health risks include skin irritation, poisoning resulting in muscle weakness, tremors, paralysis and even respiratory arrest, liver and kidney damage, cardiac toxicity (damage to the heart) and lung damage.

But what has all this got to do with autism?

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A few weeks ago, I blogged about Vitamin D and how the rise in Vitamin D deficiency has been linked to the rise in autism, but vitamin D is not the only deficiency that has been linked to autism and some people are suggesting that a deficiency in vitamin A may be responsible.

As I have said before, the Standard American Diet is not healthy and, although we may be eating a lot and filling ourselves up, many of us are actually malnourished because our diet does not contain enough of the essential nutrients that our bodies need to function properly and for our children to develop and grow correctly. Instead our diets are high in sugar, fats, salt and empty calories. However, low fat diets can also be bad for us because by not eating an adequate amount of fat we may actually be causing our bodies to be deficient in vitamin A, which is found in foods like full fat dairy foods, liver and cod liver oil.

Autism and Vaccines

In a study entitled “Is Autism a G-Alpha Protein Defect Reversible with Natural Vitamin A?”, Mary Megson, MD, a developmental pediatrician, argues that “Autism may be a disorder linked to the disruption of the G-alpha protein, affecting retinoid receptors in the brain” and that some cases of autism may be caused by “inserting a G-alpha protein defect, the pertussis toxin found in the D.P.T. vaccine, into genetically at-risk children”. This study also argues that the live viral measles vaccine (MMR) depletes a child’s existing supply of vitamin A and so has a negative impact on the retinoid receptors in the brain.

Megson, in an article entitled “Autism and Vaccinations”, reports that this G-Alpha protein defect causes:-

• Night blindness
• Problems seeing light-to-dark shading
• Problems perceiving what they are seeing - Children try to make sense of things by lining up toys, sorting objects by color etc.
• Avoidance of eye contact - Megson believes that this is because the child is trying to get light to “land off center in the retina”.
• Hypersensitivity - A gentle touch can feel rough, common sounds can sound harsh.

Is Vitamin A the Answer?

Megson writes of how she has been treating autistic children effectively with cod liver oil, a source of vitamin A retinol, to “bypass blocked G protein pathways and turn on these central retinoid receptors”. She reports that there were marked improvements in the children in just a few days, including improved eye contact and better vision and perception. After two months of this vitamin A treatment, the children were given a single dose of a drug called bethanechol, to stimulate pathways. These children were then able to talk, laugh, focus and concentrate - a huge improvement!

Research like this really does emphasize the need to give our children a nutrient rich diet and to make sure that we make up for any potential deficiencies with supplements. Cod liver oil is great for children because it is a great source of vitamins D and A (deficiencies have been linked to autism), omega 3 essential fatty acids, and it also offers us the following benefits:-

• Improved blood flow
• Reduced risk of coronary heart disease
• Stronger bones and teeth
• Better vision
• Healthier skin
• Healthy joints
• Healthy brain development

There are many different types of cod liver oil supplements available for children - syrups, capsules, chewy tablets etc., so you’re bound to find one that your child likes and will take without any problem.

You can read Dr Megson’s article and study at:-

http://www.westonaprice.org/moderndiseases/autism.html

http://www.whale.to/vaccines/autism35.html

It was the Vaccine Court Poling Case that brought the possible link between Mitochondrial Disease out into the open in 2008. The Poling family won compensation, in the form of an out of court settlement, because they were able to convince people that their daughter Hannah’s autism was a result of nine vaccines that had been administered to her just 48 hours before Hannah developed the first signs and symptoms of autism.

Hannah Poling suffered from Mitochondrial Disease, or dysfunction, a disorder that she had inherited from her mother, and it is not known whether it was the vaccines alone that caused her autism or whether her mitochondrial disease had left her vulnerable to the vaccines triggering the autism. The Chief Science Officer of the charity “Autism Speaks” thinks that in cases like Hannah Poling, the vaccinations stimulate the immune system, putting stress on the functioning of the cells in of the body and exacerbating the symptoms of the Mitochondrial Disease that the child already has and triggering autism symptoms.

Mitochondrial Disease

Mitochondrial Disease is not just one disease, but is actually a collection of over 40 different disorders that affect the mitochondria. The mitochondria are the “powerhouse” organelles (subunits) of cells known as the eukaryote cells. The job of the mitochondria is to covert energy from food molecules into Adenosine Triphosphate (ATP) which is needed to power cells and for metabolism.

Mitochondrial Disease has many different characteristics, depending on where the defective DNA has been distributed in the body, but symptoms can include:-

• Muscle weakness
• Heart problems
• Episodes similar to strokes
• Problems with co-ordination and motor skills
• Seizures
• Vomiting
• Developmental delays

Evidence Linking Autism and Mitochondrial Disease

As well as the Poling Case, a Portuguese Study has also suggested a link between autism spectrum disorders and Mitochondrial Disease. This study (”Mitochondrial Dysfunction in Autism Spectrum Disorders: A Population-based Study” 2005) looked at 69 autistic children and found that five of the group had mitochondrial abnormalities. A US Study by Dr John Shoffner backed this up by finding that about 20% of autism sufferers also have markers for mitochondrial disease.

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Last week, I blogged about a report in Scientific American Magazine linking Vitamin D deficiency with Autism because of the rising number of autism cases in two communities of Somali immigrants who had moved from their equatorial country, with plenty of sunshine, to northern latitude countries.

You can read the Scientific American Magazine report at http://www.scientificamerican.com/article.cfm?id=vitamin-d-and-autism and click here to read my blog post on it. This week, I have decided to dig a little deeper into the vitamin D theory.

Now, many people have pointed out that these Somali communities would also have faced other changes too, not just lack of sunlight. For example, their new environment may be more toxic (pollution and heavy metals), the vaccination program in their new countries may be different, their diet would have changed etc. So I’m not sure how this preliminary study was able to rule out these other factors and make vitamin D deficiency the missing link.

However, whatever we think about this report into vitamin D deficiency and the Somali communities, there are many scientists out there who do think that vitamin D is a factor that should not be dismissed and that needs to be taken seriously.

Vitamin D - Is it a Plausible Theory?

The Vitamin D Council is an organization run by John Jacob Cannell, MD, a doctor with a special interest in clinical nutrition, and it aims to educate and inform people about vitamin D to prevent vitamin D deficiency, and the illnesses and conditions which are caused by a deficiency.

Cannell points out that at the same time that we are experiencing a vitamin D deficiency epidemic, we are also in the midst of an autism epidemic - can the two be linked? Yes, Cannell believes that sun avoidance is the root cause of both epidemics. Although this is just a theory at the moment, and has not been proven, Cannell thinks that it is a plausible theory and would explain:-

• Why more boys suffer with autism than girls - This could be due to the different effects that the hormones, estrogen and testosterone, have on vitamin D metabolism.
• Why more black children have autism - People with darker skins synthesize vitamin D more slowly and so have increased vitamin D requirements.
• Why children with rickets show autism-like symptoms, including flabby muscle tone, developmental motor delays and decreased activity.
• Why children with autism have a higher incidence of infections, just like vitamin D deficient children.
• Why children with autism have a higher incidence of seizures - Vitamin D has been found to reduce the incidence of seizures.
• Why there seems to be a link between vaccines, heavy metals and autism - Vitamin D increases levels of glutathione which acts as a chelating (detoxifying) agent, helping rid the body of heavy metals and decreasing oxidative stress which can lead to tissue damage, including brain damage.
• Why there is evidence of autism rates being lower in equatorial countries - A study into the prevalence of autism in children born before 1985 (before people started to worry about sun exposure) by Dr William Grant of SUNARC (The Sunlight, Nutrition and Health Research Center) did show a strong link between the prevalence of autism and the latitudinal position of the country in which they were born.
• Why Alabama, the southernmost state in a study into autism prevalence, had the lowest prevalence of autism and why New Jersey, the second most northern state studied, had the highest prevalence.
• Why studies have shown that children born in winter months have a higher prevalence of autism - March, when vitamin D levels have shown to be their lowest, is the worst month of birth for autism prevalence.
• Why some parents notice improvements in autism symptoms in summer.
• Why multivitamins have been found to improve brain functioning.

The Vitamin D/Brain Connection

More and more scientists are concluding that vitamin D is needed for brain development. From his research into vitamin D’s role, Professor John McGrath, from Australia’s University of Queensland, concluded that vitamin D is “the neglected neurosteroid” and that it is crucial for proper brain growth and development in an unborn baby.

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