A New Definition of Austim
Autism as classically defined was and is a devastating disorder. It was a severely incapacitating disability that was relatively rare. It occurred in approximately 1-2 infants per 10,000 births.
In this severe form of "Classic Autism" effective speech was absent. It could include symptoms of repetitive, highly unusual, aggressive and self-injurious behavior. Those afflicted had extremely abnormal ways of relating to people, objects, or events. Parents noticed that something was "not right" generally within the first three to six months of life. These children did not coo or smile. They resisted affection and did not interact normally.
In the last decade, another type of autism has surfaced that is often referred to as "Autistic Syndrome." Children suffering from this disorder generally appear normal in the first 15-18 months of life. They do not present signs or symptoms pediatricians or neurologists would find atypical. These children create an inconsistency with previous held beliefs that 70-80% of autistic children are mentally retarded. They crawl, sit up, walk, and usually hit normal motor milestones on schedule. Up until the age of onset, they are affectionate and appear to have above average intelligence.
Children with this autistic syndrome may begin to develop some speech but then, without warning, cease to progress, or begin to regress. Suddenly, these children become withdrawn. They are quiet sometimes and hyper at other times. Often self-stimulatory behaviors (i.e. arm flapping, rocking, spinning, or head banging) develop. In time, some manifest symptoms that are both similar and atypical to children previously diagnosed as "classically autistic. "
While training as a pediatrician, I was told if I saw one autistic child in a lifetime of practice it would be one too many. What I am seeing today is not the autism I learned about in medical school twenty years ago. What was once a relatively rare disorder is now twenty times more likely to occur. Before, "autism" was 1-2 per 10,000 births. Now, current statistics suggest a frequency of 20 per 10,000 births (rates of 40 per 10,000 or higher have been suggested).
In the past, autism was considered a "psychiatric" disorder. We now know that autism is a medical condition, not a mental disorder. Perhaps one of the reasons no one has come up with an answer for autism is the way we have thought of it (or rather did not think of it in medicine).
Most "MD" researchers did not look for the answers to autism because they felt this was a disorder that was untreatable medically. Treatment for this affliction was primarily left in the hands of psychologists and a few psychiatrists.
"Autistic syndrome," though still treated mainly by psychologists and psychiatrists, is also no longer considered a psychiatric disorder. It is a biological disorder that requires medical intervention. Physicians are now just beginning to understand the medical origins as well as the actual and potential treatments for autism.
Even though I believe children with classic autism might be helped medically as our knowledge of the brain's physiology expands, for now it might be helpful to separate children afflicted with autistic syndrome from those with classic autism. As children with autistic syndrome increasingly become categorized as a "medical" problem, separating them from the many negative connotations and hopelessness associated with "classic" autism could be advantageous to promoting research and funding to help these children. The differences between the two groups may be summarized as follows:
Classic Autism
Generally "abnormal" early (i.e. 3 - 6 months of age)
"Classic" Autistic symptoms / presentation
Presumed "static," / unchangeable
Autistic Syndrome
An increasing population of children with "Autistic/ PDD" behavioral characteristics
Current estimate 20-40 children / 10,000 (incidence may be as high as 1-5% of Does NOT have "objective" physical signs of neurologic damage / injury Majority (?? All) are immune mediated, appropriately looked upon as a medical dysfunction - open to potential medical therapyGenerally "normal" early (usually until 15 - 18 months of age) Atypical symptoms Asperger's Landau Kleffner's ADHD / ADD variants
A potentially progressive disorder (if not treated / corrected) May explain the origin of many cases of "Landau-Kleffner" syndrome.
Autism and the Immune System
I have been in clinical practice for the last twenty years. When my wife developed an "unknown" chronic illness in 1982, I began to explore and research neuro-cognitive dysfunction and immune dysfunction / dysregulation in an effort to help my wife. Eventually she was diagnosed with Chronic Fatigue Syndrome, to what is now CFIDS (Chronic Fatigue Immune Dysfunction Syndrome).
The first suspicion I had that autism might be immune-related occurred in 1985. I was in the middle of exploring various alternative therapies in hopes of helping my wife and others afflicted with CFIDS. About the same time, some autistic children were referred to me for evaluation. These children had never had any blood work-ups because no one thought of their "problem" as a medical one. Much to my surprise, they had similar profiles on amino acid scr ns as the adults I
was seeing with CFIDS. I couldn't help but wonder "What did Autism have to do with the immune system?"
The Causes of Autism
With the relatively new thinking that autism has medical origins have come several theories. Some doctors believe autism is a result of a metabolic, enzyme, or genetic defect. Although a few children may suffer a built-in genetic or functional defect present since early gestation, I do not believe this is the case for most children afflicted. In addition, the old theories do not fit or began to explain the large increase in the number of children diagnosed with autism today.
I believe "Autistic Syndrome" probably is a state of dysfunction induced in the brain by a dysregulated immune system. It could be possible that this dysfunction may occur in individuals that have a genetic predisposition. This predisposition is somehow triggered by various stresses placed on their immune systems. It's severity varies with the individual and age of onset. The triggers may be different (or similar) in each child.
If it is looked at in relation to the causes of blindness, it is easier to understand. There are many people who are blind but the cause of their blindness is very different. This is consistent with the idea of an immune dysfunction / dysregulation. For whatever the reasons (genetic, environmental, a combination of viruses, etc.), I believe what is occurring is an immune mediated, abnormal "shut down" of blood flow in the brain and therefore central nervous system function. In adolescents and adults, this dysfunction manifests itself as CFIDS and various other atypical auto-immune disorders. In older children, it is seen as variants of ADD (Attention Deficit Disorder) / ADHD (Attention Deficit Hyperactive Disorder). And in younger children/infants, it appears as autism, autistic syndrome and PDD (Pervasive Development Disorder).
When these children are given a NeuroSPECT (a test to measure blood flow to various parts of the brain) and clinical blood work, this connection becomes more than reasonable, it is logical. The theory that much of autism / PDD is probably an immune-mediated auto-immune disorder is gaining rapid acceptance. It explains the progressive process of the autistic syndrome that occurs sometime between 15-24 months of age. The dysfunction / lack of blood flow eventually leads to injury of nerve cells, which explains the abnormal brain waves, and the large numbers of autistic children suddenly being labeled as "Landau-Kleffner."
The multiple metabolic, physiologic, and immune markers that are abnormal in these children, "make sense" when you think of the bigger picture and consider the primary cause of autism as immune dysfunction, creating multiple cellular / mitochondrial dysfunctions. A distinction often misunderstood is that dysfunction starts out of the immune system, not out of casein, gluten or other metabolic sensitivities. Children with autism have a lot of metabolic abnormalities, but that is a result of the problems with their immune systems.
If a metabolic dysfunction were the cause of a disorder, correcting it would eliminate the disease. If casein or gluten caused autism, eliminating them from the child's diet would cure them, but that does not work.
If metabolic dysfunction is a secondary factor of autism, you rarely, if ever, are going to have a patient recover, by treating the "secondary" rather than "primary" problem. Similarly, if it were true that adults with chronic fatigue have a metabolic defect, how come most of them were normal and generally high functioning for years?
In medical school I was taught to, get to the reason, and to get to what's underneath it. It's important not to just treat a symptom, or what appears to be on the "surface," but rather it is necessary to treat what is causing the problem.
Medical Treatments
Most of the children I see have healthy bodies with reactive and volatile immune systems. The first step, is to check functioning of various systems in the body. Unless another "medical" problem is found, the immune system is what is creating the misbalance / dysfunction in the brain.
Unfortunately, new, potentially safe immune modulators (steroids, IVGG, are old immune modulators, neither generally safe or effective with this type of immune disorder) are not yet available. Until these immune modulating drugs are scientifically tested in controlled studies, the way to help these children must focus on an overall approach using efforts / steps and medicines available now. By the time a child is referred to my office, their immune systems have not been functioning well for a very long time. This dysfunctional process did not occur overnight and it takes time to "cool" down / help "normalize" the body and the immune system.
The closer you can bring the body towards normal, the better the chance that the body may shut off this reactive and dysfunctional immune system. It is a difficult and complicated process to make the body heal itself especially after years of dysfunction. But if you remove some of the "offenders" that cause the immune system to fire when it shouldn't, you're making it easier for the body to normalize.
The Role of Allergens and Diet
I usually begin by testing the blood to determine allergies that could possibly trigger the immune system to react. Often autistic children come up allergic to a large number of foods, not necessarily because they are actually allergic, but rather because their immune systems are so "revved-up," they react to everything.
This reaction may or may not occur as a traditional allergic reaction of asthma, a rash or hives. But what does occur is an immune mediated, abnormal "shut down" of blood flow in the brain that affect the language and social skills area of the brain and central nervous system function.
I generally start to improve the immune system by placing the patient on a diet free from dairy products, chocolate, and whole wheat. The reason for this is to help reduce the stress on the immune system. If dairy, chocolate and whole wheat are taken away, 96 - 98% of probable "food" allergies are alleviated. However, I do not believe that you can correct this condition by diet alone. If this were possible, parents (and physicians) by now, would have heard of multiple, "unbelievable" successes over the years. Reputable "institutions" would be conducting clinical trials to investigate the "successes."
Since nutritional therapies have not resulted in cures, or even published reports of significantly improved cognitive function, it is illogical, in fact potentially detrimental, to put these children on extreme diets. However, sometimes these children put themselves on extreme diets by only eating a limited number of foods. I don't think there are a lot of normal children who would be healthy on some of the diets these kids put themselves on.
For most of the children, all that is necessary is to eliminate the "main offenders" in their diets that will cause the immune system to react. It is not necessary to eliminate all wheat. Some doctors and homeopaths recommend the elimination of all gluten and wheat. I think these children show improvement because when they are put on a gluten / wheat free diet, they no longer eat whole wheat. Usually, all that is really needed is to eliminate whole wheat and other whole grains (due to allergenic potential) from the diet.
I do not normally focus on casein beyond eliminating the primary milk products. Because even though they may, in theory, play a slight role in the background, if the allergies overall are lowered, it will decrease the immune system firing off.
It does not matter if "allowed" processed products are used, as long as they do not appear to be a "trigger." But, avoiding the "main" offenders is extremely important. Eliminating too many products from a child's diet, increases the risk of disturbing a child's metabolic balance, rather than helping to normalize it. (Note: Many supplements meant to compensate for the diet extremes, may in themselves have allergenic components, acting as negatives triggers to the immune system and the child overall. They may fail to be properly absorbed or contain dangerous impurities. Children may be at far greater risk from diet and "supplements" than any perceived risk from properly used pharmaceuticals.)
The G.I. tract is loaded with lymphocytes (white blood cells that fight infection and disease).Those lymphocytes communicate with the brain. What has always made sense and is "logical" is if the body is sensitive to milk protein and whole wheat protein, coming into the G.I. tract it could cause the immune system to fire.
As research evolved, it was found that milk and dairy can actually cause a microscopic blood loss in the intestine by a "reactive" inflammation of the bowel. It is interesting to note that most of the world's populations get violently ill when given cow's milk. Apparently, it's not a normal human trait to digest the cow's milk proteins.
Asian people have much healthier arteries than we do. One of the major assumptions for this is that they eat soy protein instead of dairy protein. Dairy is the number one source of cholesterol. The entire family can be helped indirectly if milk is eliminated from the meals. Parents often worry if their child is getting enough calcium. Soy and rice milk often have calcium and vitamins A and D added. However, if a child (girl or a boy) is eating a normal diet, they will get enough calcium.
In the teenage years, girl's diets should be supplemented, if you're not giving them a lot of dairy. But usually, this is not necessary in these first three or four months. As time goes on a calcium supplement may need to be added. Often I will suggest Tums®. Tums® are a very safe source of calcium for a child and they taste good. Inter-related is the fact that many children and adults who are sensitive to milk but still continue to drink milk products, often have iron stores that are low. Their Hgb. / Hct. are chronically on the low side of normal, even if they were not truly "anemic." This is typically because of a microscopic blood loss occurring through this "inflamed" mucosa. If dairy and milk were eliminated from the diet, and then a biopsy of the intestine was done, the mucosa(the mucous membrane that lines a structure e.g. mouth and lips) would look normal. If milk and dairy were then reintroduced, the mucosa would look raw and inflamed. (Therefore, in approaching the idea of "leaky" gut, helping the body by removing negatives, is more important than "supplements" and nutritional "fixes.")
As a pediatrician it has been fairly routine for me to see a child do well on formula (even a cow's milk based one) for 12 months, but when the child is switched to real milk, the child experiences congestion, stuffiness, upset stomach, and a whole realm of symptoms not seen before. Whole protein, unprocessed food is much more allergenic and has a higher incidence of causing the immune system to react.
The truth is, there is not as bad an allergic reaction out of a processed product. When a food is processed, the protein structure is changed. So a child that might go berserk on milk... may not have a reaction to "processed" cheese. When the protein structure is changed, the food will not give as large an allergenic reaction.
Products from the health food stores are not necessarily the best for autistic children because they are less processed and more pure. They have a lot of whole wheat and grains. For these kids, the cheapest white bread (without milk, whole wheat, or whey) is often the best choice.
To illustrate how peculiar the immune system is, when parents seen the results of the food test come back, a routine phone call is, "How come you did not say 'no eggs'?" You'll almost always see egg white and egg yolk with very high numbers, and yet I will usually say "ignore it." The reason being, unless a child has eczema where yolk or egg are triggering off a skin reaction, for some reason the immune pathway fired off by eggs doesn't seem to play a role in what we are talking about in the brain. I rarely have to worry about taking a child off of eggs, even though you may have this "huge reaction" on the food "screen." This illustrates how parents need to become aware of what doctors have known and "fought" about for years, there is no "perfect" food test / screen, results must always be interpreted in their clinical context. Too often, parents are being "guided" by interpretation of food and metabolic screens that do not have the capability to do what the parents wish. Many mistakes are potential being made, that may be "metabolically" and physiologically hurting these children.
Although processed food might give a lesser reaction, the importance of avoiding allergens cannot be stressed enough. In the beginning, it is especially important to avoid foods that might trigger the immune system. If the immune system is triggered, the body is affected for a minimum of a week to ten days (or longer). So it's necessary to be particularly strict at the start of the treatment, when the goal is to cool down the immune system.
If it comes down to choosing a food (cheat) with milk or sugar, choose the sugar. From the sugar the child may get hyper for a few hours, but it wears out of their body relatively quickly. From milk protein or other allergens, the immune system can be affected for up to two - three weeks. However since sugar feeds yeast, it is a good practice to minimize sugars in general.
It is also important to encourage the children to eat more protein. This will help balance out their own amino acids, which in turn will help alleviate some of their problems. All these children need protein. It is also necessary to restrict the starches. Healthy breakfasts, lunches and dinners should be served.
Sometimes this process of restoring the immune system to normal can be very deceptive. The child is doing extremely well, and appears almost well or "cured" to a parent, when everything suddenly falls apart.
A child may appear to be well, but unless the body has shut off this process, they still have a reactive, volatile immune system in the background. Even if a child is functioning at a extremely high level, a child should not be regarded as "cured", unless the immune system has truly returned to normal.
While a few rare children will actually outgrow this process, especially if you have taken steps to help normalize their bodies; realistically, it will probably take the advent and usage of new drugs that are immune modulators, to truly shut-off their dysregulated immune system.
This treatment needs to be thought of on a continuum. The closer the child gets to normal, the better the chance that the body may shut off this process. But unless you've gone that last little step, unless this process shuts off, it must be assumed that the immune system is still volatile and potentially reactive.
The only principle I have continued to find logical over the years, is the idea that I'm trying to just help a child "normalize" their body (and brain). Can I help them balance out their body? If I can change the diet, their own body can help balance itself. There continues to be no evidence in these children of any pre-existing, built-in enzyme or metabolic defect. Therefore, by focusing on the overall intake, encouraging more protein, less starch, a child's body will help balance out and replace needed amino acids ( the building blocks of the body) and other nutrients.
With rare exceptions, I will never say don't do something if you truly see a child do better and it's safe, but in most cases I have found that you can get to the right point if you just think of it as cool down the body's immune system, help "safely" where medically and nutritionally possible, and extremely important, avoid offenders or triggers. If a child is doing better and their allergy test said they were not allergic to apple, but you give them a drink of apple juice and the child is bouncing off the walls, it doesn't matter what the test said, that child should not have apple juice. And this is the way parents have to work with their own child.
Until new immune modulators are tested and ready for use with patients, I regard each step of treatment as an attempt to help "cool-down" the immune system, and help the body "adjust" itself in a healthier manner. While the principles are becoming very consistent, each child (his/her body and brain) must be "individualized."
Candida or Yeast and Autism
While taking the risk of opening a medical controversy, this author certainly believes there is a logical connection between yeast and a dysfunctional immune system. However, this theory is not yet widely accepted by the medical community, but over the last few years has become easier to talk about and "discuss". Candida is a yeast-like fungus that is present in all our bodies. Presumably, yeast / Candida is in every normal G.I. tract. That is where the confusion begins.
Normally, a healthy immune system keeps the yeast in check. If the immune system is not working properly, the yeast have a chance to overgrow and become a problem. Yeast is one of the likely pathogens contributing to a metabolic imbalance that is a secondary result of a dysfunctional / dysregulated immune system. It is NOT the primary reason or cause for autism.
There is logic in saying that if an immune system is dysregulated, a secondary problem potentially due to Candida needs to be treated. Some doctors hypothesize that autism is caused by a "leaky gut." With this theory comes the assumptions that withdrawing allergens and treating a yeast overgrowth, will help the GI tract to return toward normal. The problem with this thinking is that if yeast is not the cause of autism or PDD, then treating Candida is not going to end the autistic or PDD state. I believe it is only one of the many steps needed to help normalize the body.
Many children afflicted with autism have had frequent ear infections as young children and have taken excessive amounts of antibiotics. This has exasperated the yeast problem in these children. Other possible contributors to Candida overgrowth are hormonal treatments (i.e. steroids, BCP pills, ?? secondary exposure), immunosuppresant drug therapy, exposure to herpes, chicken pox, or other "chronic" viruses, or exposure to chemicals that might upset the immune system. There is an increased probability, that a "general" environmental factor affecting our immune systems (i.e. ozone layer depletion, "toxic" chemicals, etc.) may be operative, affecting many children and adults.
Because it is impossible and not practical to expect anyone to stay on a totally yeast-free diet, ongoing medication, anti-fungal supplements, and avoidance of dietary negatives are necessary to control Candida. Even with the use of anti-fungal drugs, it is still important to limit sugar when there is a yeast problem, because yeast grows 200 times faster in the presence of sugar.
If a potent anti-fungal such as Diflucan or Nizoral is used, it can be assumed that within 1 - 2 months most all of the yeast will die off. I do not use Nilstat or Nystatin. For most children Nystatin is ineffective. And yeast, like bacteria with antibiotics, have become resistant to Nilstat (and other antifungals).
Usually, I will use Nizoral or Diflucan for about four to six months while trying to alleviate other stresses on the immune system and "maximize" a child's function. In 7- 12 days some patients experience "die off." This is the only time, a "negative" reaction to a medication can be a good sign.
When the yeast is being killed one experiences either a "sensitization" reaction to "products" of the yeast being killed, or there is release of "formaldehyde" like products or other potentially toxic derivatives, that can contribute to negative symptoms in a patient, including bouncing off the walls, miserable, and irritated. I know it is ironic, because it actually is a good sign that the child has a yeast problem that can be corrected with medication.
It is important that the parents check in during "die-off" so I can be sure what is occurring is indeed die-off and not a reaction to the medication. Die-off usually lasts about 7-14 days and after that time the change in the child can be rather dramatic. If the die-off does not end in 14 - 17 days, it is generally a reason to change choice of anti-fungal.
If the treatment is successful, usually eye-contact improves. The children seem more tuned in and less "foggy." Parents report that after the yeast is under control the frequency of inappropriate noises, teeth grinding, biting, hitting, hyperness, and aggressive behavior decrease. The children no longer act almost drunk by being silly and laughing inappropriately.
While on Nizoral or Diflucan, I have the patient take monthly blood tests to monitor liver function before any damage might occur. I tend to be on the cautious side, "officially" testing is recommended every 2 - 3 months.
I change medication at six months, though in theory one could go longer. The reason I stop at six months is because Nizoral has a very mild effect on the adrenocortical axis. It's part of the internal steroid mechanism. While this may even be part of how "Nizoral" helps the body, it also limits how long one should be on Nizoral. Generally, I will try to switch to Amphotericin B, which has recently been licensed as an oral liquid in this country, can now be legally compounded by certain pharmacies in the U.S.
If the antifungal therapy is stopped completely, and the body's immune system has not returned to normal, the yeast will return. Ultimately, the key is the body's own ability to keep in check an organism that it doesn't want to have there to start with.
Some doctors mistakenly give medication to control the yeast for only a few weeks or even a month. Then the treatment is stopped because the child is doing better. The problem with this kind of therapy is that if a child is helped for a short time and then the treatment is withdrawn, the yeast is going to come back, perhaps even as a stronger, more resistant strain. Whereas if the treatment took that child to normal, and their immune system became normal, it would be possible to withdraw all treatment and the child would remain healthy.
Antivirals
If the blood work suggests that a herpes related virus or "unidentified" retro-virus might be in the body, a therapeutic trial of the antiviral drug Zovirax is given. The only thing (in theory) treated with Zovirax is a herpes related virus. If a virus is present and it is gotten under control, it's one of many major steps necessary to help the body and the immune system.
On a few of the older children I am now starting to use Valtrex, which is an improved version of Zovirax. I never recommend something for a child unless I can say, "It is safe."
When herpes virus is discussed, we all think of cold sores, vaginal sores, but may not consider chickenpox, CMV (cytomegalovirus), or Epstein Barr. These are also herpes viruses. Being in the herpes family, they have the unique ability to sometimes stay around even after the overt symptoms are long gone. They hang around the body and live in the nerves. Perhaps a "new" Herpes related virus or retro-virus may be playing a role in some of this epiphenomena. However, at this time we do not have the technology to explore and understand how all of this works.
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