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Autism is Not Mental Illness: Get it Out of the DSM

Trapped child By Jill Rubolino

In this month of Autism Awareness, I am ever so aware of the great disparity for our children on the autism spectrum regarding their diagnosis and healthcare.  It brings to light some major changes that need to take place in order to not only stop the perpetual, exponentially expanding numbers of children developing autism, but to provide the already affected children with proper medical care and treatment.

In a health care community that listed homosexuality as a psychiatric disorder on the DSM until 1973, and recognizes alcoholism, addiction and obesity as diseases, our children are suffering and being denied proper medical attention.  Not only are our doctors not acknowledging our children’s medical ailments, they are flat out denying to us that they are occurring or that somehow these conditions are some normal variation of childhood.

This needs to stop immediately.  It will only stop when parents demand competent and educated pediatricians for their children and settle for nothing less.  We must no longer listen to the false and unsubstantiated litany of canned text responses we hear from uninformed, uneducated pediatricians and specialists.  We must no longer accept the standard answers that all refer back to one, already discredited study, regarding vaccine safety.  When pediatricians site their references, how many parents ask them to explain that information? How many doctors could? And yet, how many parents that we know can site study after study, and explain biochemical abnormalities ‘til the cows come home?Autism as a diagnosis must be removed from the DSM. Period.  It is a medical disorder, with many causes, some of them genetic and totally unrelated to a psychiatric diagnosis altogether. Down’s syndrome is a medical diagnosis, has an identifiable genetic abnormality, and a range of associated features also affecting that person developmentally. It is not, however, diagnosed using the DSM.  Autism is not currently recognized as a medical disorder because, if not diagnosed as a known genetic cause, it is a disorder caused by environmental insult, including vaccines. 

The resulting medical problems are symptoms of the underlying cause, not the disorder itself.  But because this medical disorder is caused by vaccines given to our children by the very people who are supposed to care for them and keep them healthy, it will not be recognized as such.  No other disorder, psychiatric or otherwise, is so blatantly denied its medical or biochemical component except autism. 

No amount of early detection or early intervention will reverse a disease process unless it is treated medically.  It is a process, that left untreated, will perpetuate itself to variable degrees in each individual with sometimes irreversible and devastating effects. The medical community turning its back on basic medical principles in treating their autistic patients’ symptoms first can only be referred to as gross malpractice. 

The pediatricians that are treating our children should be ashamed and embarrassed at their complete negligence and incompetence in recognizing a pattern of symptoms that is seen over and over again, hundreds, and thousands of times in this patient population.  And yet, they cling to their outdated, obviously inadequate standard answers and bury their heads in the sand while our children suffer and sink deeper and deeper into Autism.  Every parent of an autistic child has heard some ridiculous, condescending statement from a physician while they ignored that same child’s obvious vaccine reaction, or explosive diarrhea,   abdominal pain, mysterious rash, poor weight gain, reflux, relentless fever, immune dysfunction, and on, and on.  And they ignore us, because they can.

Pediatricians, vaccine manufacturers, the CDC, and our federal government are all protected under laws that are unconstitutional.  That’s right.  Your pediatrician doesn’t have to worry about being sued for your child’s descent into Autism after their MMR, or Proquad because the US Federal Government says so.  Even though adequate informed consent is never provided, and protocols for vaccinating are rarely followed appropriately. 
Children get vaccinated without being screened for immune dysfunction, mitochondrial disorders, and even when they have a febrile illness, all inappropriate according to the vaccine makers’ own recommendations.  Yet, where are all the suits being filed for this obvious malpractice?   Because, as parents, we are spending every waking moment and every dime we have trying to recover our children, we have no resources to venture into this legal arena with special masters and shorter statute of limitations.   In a country where the father of a child that resulted from a rape has a legal right to that child, our children have no legal rights.  By the time we navigate the myriad of professionals that are deemed qualified to diagnose our children as autistic, our statute of limitations has already expired.  It will take one individual with deep pockets and a fire burning in their soul, to bring change.  There is no exemption for gross negligence by a physician even if it’s one of our kids.  You are not protected under the umbrella of indifference.  It will only take one case, one precedent.  Change will happen.

The controversy about vaccines rages on, but only in the minds of those officials who are themselves, responsible for the conspiracy to conceal the truth about vaccines.   All of the supposed nonexistent, mainstream medical studies that apply to vaccines, and thimerosol, mitochondrial disorder and dysfunction, seizure disorder, aluminum etc. are all easily accessed by anyone with a computer and half a brain.  This may explain why the officials, that coincidentally have some type of connection to vaccine manufacturers, cannot seem to find them. All of the necessary medical documentation, studies, information, case studies, etc. are there and readily available for anyone who wasn’t deluding themselves that they can still go on national television and tout that everything is okay.  This political, money driven quagmire will come to an end.  Big tobacco took a fall and so will vaccine pushers.  And I’m thinking of one gentleman in particular, I think we all know who that is, you will not make it off this planet in an upward direction, sir.

I’ll leave you with the thought that for the same reasons that people fought for civil rights, government officials are impeached, landmark cases are won, people have overcome adversity throughout history to affect change, we must do the same for our cause.  I will pledge from this day forward that the next time I get that look from a doctor, you know, the placating one you get when you start to talk gastrointestinal, I will put my foot down.  I will say, “Why do you look at me that way? Do you not believe what I am saying or are you just not aware how negligent you have been in my child’s care? Why did you not recommend a genetic work up for my child? Why have you not tested his lead level before now? Why is it that while I sit here in receipt of that condescending look, you don’t even realize that every new piece of information I have found out about my child’s medical condition is because I looked for it and not you?  As we sit here right now,
I know infinitely more about how to treat the medical condition of autism than you, and quite frankly, you should be on the receiving end of that very same look you are giving me.  As we sit here and you comment on how well my child is doing, and how far he has come, it is only because of me, and not you, acting as his medical professional and managing his care, and at the same time, being damn good at it.”

So pediatricians, and specialists be aware and beware.  We will no longer tolerate substandard, negligent care for our kids.  And while we might be the government’s scapegoat right now, that curtain will come down, and they will sell you out just as fast.  And then my friends, you won’t be able to afford your malpractice insurance.

Jill Rubolino is the mother of two beautiful children, one who was affected by vaccines and diagnosed with PDD-NOS. She, along with her husband Richard, is currently working on her son’s recovery and returning his body to a healthy state. Jill has been a nurse for fifteen years and is appalled at the lack of appropriate medical care for ASD kids. Along with friend Jeanna Reed (fellow nurse and mom to a vaccine injured son) they plan to do something about it. Their company, Autism Is Medical, Inc., focuses on educating doctors and parents and bridging the gap between them. They can be found at www.autismismedical.com.

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Dave-- so you saw the word "autism" in a Google search and you decided to flame out on one of the few sites which would love more than anything to scrap the whole "autism" label in preference for a disease name which indicates cause? This blog has also protested the tendency of organized psychiatry to overextend diagnoses to everyone with a quirk, eccentricity or trace of individuality for a few reasons: 1) because it's only done to sell psych drugs by expanding criteria to make all of humanity "disordered; 2) because these drugs do nothing to address real illness and threaten to render the healthy sick; 3) because the psychiatric inquisition threatens to destroy culture and creativity by labeling normal human behavior; and 4) overextending diagnoses draws scarce funding away from individuals with real disorders who are desperate for services and resources.

By the way, does your dog flap its paws, never sleep, vomit constantly, smear shit on the walls Jackson Pollack-style and have eczema and seizures? And if your dog did display these symptoms-- plus an inability to follow any requests or interact socially, plus allergies to dozens of foods-- would you take him to the vet or would you blame your dog-training skills?

The psychogenic theory of autism died when its originator, Kanner himself, buried it. Autism is not caused by bad parenting. The only time I've seen it used as a designer label is when adult felons get a diagnosis to get off the hook for mauling women. The reason this is allowed to happen has not a damn thing to do with the environmental autism movement but instead is generated by organized psychiatry, which is desperate to prove there are "just as many adults with autism" as there are children in order to disprove the existance of an epidemic.

Now if you're talking about ADHD-- which unlike autism, can be easily confused with a variety of conditions and tends to be drawn from a grab-bag of criteria-- and the 1/10 children being diagnosed with it, then you may have a partial point: not every single case of "ADHD" is psysiological. Not every case even has grounds but it is a very profitable way to market stimulant drugs.

Here's a rough list offered by one of psychiatry's chief critics on the causes of hyperactive or inattentive behavior in children:

-Lead/mercury poisoning
-Closed head injury
-Toxic encephalitis
-Psychoactive drugs
-Thyroid disorder
-Child abuse or witnessing domestic violence
-Living in poverty, in violent neighborhoods
-Any source of physical pain from any number of causes or conditions.
- Allergies
- Nothing. Some gifted or intellectually precocious children who are bored in inadaquate schools simply "bother" undertrained school staff by asking too many questions. Slapping them on drugs is a cheap way to straightjacket the child's precosity-- cheaper than supplying an adaquate education.

Stimulants and Ritalin do nothing to address any of the underlying problems in the above conditions and cause a horrifying list of side effects, such as sudden heart failure, OCD, suicidality and violence, social withdrawl, brain cell death, seizures, gross motor tics, organ failure, etc. But giving this slew of conditions one label which corresponds to blockbuster drugs is expedient, both in terms of social control and profits.

The devil is in the details. If you want to make a legit complaint about overdiagnosing and labeling, getting your facts straight is a good place to start. Actually reading a book or two to inform your opinion might help. Read Robert Whitaker's "Anatomy of an Epidemic" for information on the drug company push to label and drug. But even this author does not doubt that some children are genuinely ill and has questioned the number of vaccines on the current childhood schedule. Then read the book "Age of Autism" on the rise of mercury in the environment and prescription drugs.

If you're just a Tea Partier who's upset about paying taxes for the rise in disability, check out what Ron Paul says about vaccines and autism and the prescription drug injury epidemic.

If you simply have a problem with the rise in disability, then protest the pharmaceutical industries-- which have created a self-fulfilling prophesy by both causing real disability as well as pushing to overlabel and sell drugs to the rest, healthy or not. Then protest chemical manufacturers and polluters, which are causing the rise in a host of other conditions.

If you've seen the news, then you know that 54% of children in the US now suffer from chronic conditions, of which autism and behavior disorders are only a small part. Peanut allergies and analphylactic death are hard to fake. So is asthma, cerebral palsy, diabetes, multiple sclerosis, birth defects, life threatening seizures. The US has the sickest children of all developed nations; we're number 46 for child mortality below Cuba and Brunei. Autism is only one part of this trend. If you don't want it to be your problem, then do something to stop the trend. If you just want the problem to "go away", I suppose the Nazis offered a "final solution" for it with the T4 mass murders of disabled children. But then why would you even want to live in America where that sort of thing tends to be frowned on?

You people want something to blame. Blame yourselves. You wanted this fast society, with labels plastered all over everything - You've got it. Now everyone is fucking autistic. My dog probably qualifies as autistic. When will people realize that there is no sense in labeling like this.. find the real problem before you give an umbrella term to all of this shit. Stupid parents love saying "My kid has.." because it gives them an excuse for why they're so fucked up.. and then allows them to just take a back seat to raising the monster, while the medical industry does wtf they want. Great parenting.

Sandy,

I find that your sentiments concerning not all kids on the spectrum having medical issues is standard talk on some of the more conservative Asperger forums. So many of those parents think their Aspies and High Functioning kids don't have medical issues and yet most have never even done the appropriate lab tests to be making those assertions.

Those are the same parents who usually leave hateful messages about Jenny McCarthy
and parents who choose to selectively vaccinate or not vaccinate at all.

I don't even know who you're referring to when you talk about hoping more parents stand up against "you and your group". I don't believe there is ONE group. If individual families and families helping families with medical, sped issues, insurance issues, ASD adult work and living arrangements, etc., etc., constitutes "our group", then who is in your group? It's rather silly and divisive. I suggest you stick around and keep an open mind.

Sandy, guess what - my son is improving on only biomedical treatments that address his underlying medical issues. He has never had any therapy. Much less Therapy Therapy Therapy. Go figure.

For Sandy, who said "I only hope that there are more moms out there like me who will stand up against you and your group. The ONLY proven method of dealing with autism is Therapy, Therapy, Therapy..."

You have much more reading to do. And you need much more exposure to clinical reality.

Without lab tests you have no way of knowing what is going on with your child biochemically, physically. And you cannot presume to know the medical workups of the children of parents from this "group."

You say your son is "better." Parents who use biomed frequently say "healed." To me, that's BEST. Are you missing important opportunities to help your child even more? Set aside your reservations and look.


Sandy -

I am happy that your child is getting better using only therapy, and I hope that his progress continues.

However, using only therapy (I assume you are referring to ABA, speech and OT?) does not cause all children with autism to improve if they have biomedical issues. My daughter has severe autism. While these standard therapies have helped her, they would not have nearly the impact that they have had if we had not addressed her biomedical issues - gluten/casein intolerance, yeast overgrowth, and toxic metals (all of these shown through medical tests). We have recently added some new supplements to her regimen (Enhansa, OSR, and some "mito cocktail" supplements) and in the weeks since then she has MASTERED over 30 ABA PROGRAMS. I am not knocking these therapies; my daughter has some very good therapists (and without good therapists progress would not have occurred).

I do not understand what you mean by "I only hope that there are more moms out there like me who will stand up against you and your group." We are not trying to force the treatments we are using (with success, otherwise we would not use them since they are not inexpensive) on you or anyone else. What we want is for the conventional doctors to listen to us regarding our child(ren)'s issues and investigate them - and not try to automatically prescribe drugs such as Risperdal and hustle us out the door.

The problem with this is NOT all children are on the spectrum with Autism and medical issues. Medical was NOT the way for my child, vaccines had nothing to do with his issues.

To blanket this across the Autism Spectrum is wrong and really irresponsible.

If all the children on the spectrum have such far spanning different issues, how can you blanket it with the treatments and GF/CF.

Your article frustrates me, I only hope that there are more moms out there like me who will stand up against you and your group. The ONLY proven method of dealing with autism is Therapy, Therapy, Therapy......and while I think the school administrators are a bit out of touch, I do trust that they are actually helping my child, as he is getting better, and guess what, he is getting better with no drugs, supplements, and he had his vaccines for school....and he is getting better, GO FIGURE

bravo on your Autism is medical. I too have written an article nationally published that explains briefly how people are kept uninformed and what to do to cure it regardless of the alphabet city of diagnoses which most Drs. never heard of.My article is Autism is Cueable with Early Intervention. My web is www.betterschoolresults.com There is a link to Homeeducators reource directory where I am published since August 2008 through now and more to come April is on Autism, others are on ADD (Often a cureable yeast infecttion) Parents Trust your Instincts, What is Dyslexia, How to get Kids to Write and so on My name is Shelley Tzorfas 908-735-9053 I wish to make a video,a book and now to Connect with You as I too have the fire in my heart to help others. Bravo

I agree, some doctors do not know enough about Autism to make a correct diagnosis, or provide correct treatment. Nevertheless, it is still a mental illness.

What people don't seem to understand is that mental and medical illnesses are one and the same.

Your brain's cells work the same way as the rest of your body, with the exception that they form a network of axons and dendrites, which form the basis for sensation and thought.

The best way we currently know to treat this is by therapy.

If you wish to take Autism out of the DSM, then you are declaring the border between all mental and physical illnesses to be null (which it is, but currently our technology does not allow us to treat them similarly).

My all time favorite. I know that your child has autism and I know that your using a GF/CF diet and supplements and I think it might be helping but I can't tell you to continue doing this or it will cost me my job so have your psychiatrist deal with those things and keep doing them cause WOW the difference before and after is amazing.

WOW!!!! Thank you for this!!! This needs to be spread to the far corners of the world and back!!

Way to Go Jill!!

What I will never get, is despite how many times we asked about our son's lack of speech and lack of sleeping, we were told, "he is a boy, they are all like that". At the very same time, the ped was writing in his chart, SPEECH DELAY, but never referred us for any type of evaluation. The next ped, when I asked about nutrition and diet maybe affecting his behavior and bowels, literally screamed at me that there was nothing wrong with Ritalin! What the Blazes?? I never asked about Ritalin. Everything we know about my son is because I requested testing. I will never go to another ped in my son's life.

You took the words right out of my mouth.

Beautifully stated!!!

I finally got my GP to go to the Autism One Convention this year. One doctor at a time and hopefully there will come a time when they will be telling US something we don't already know. I feel like I am the one that should be getting paid to take my kid to the doctors now.

I feel so blessed to have had the common sense enough to know that what the doctors were telling me was wrong. I knew my son was SICK and did everything in my power to make sure he got the right treatment. He is doing fantastic now, 6 years later, no thanks to the medical community.

Amen!!!

My fave-- Me: I want to start biomed, looking into starting hbot and chelation. Doc: Be sure not to spend too much money. It would be better spent going to Disney World.

The kicker--my doc has an autistic child!!!

Couldn't agree with you more!

Great job and next April needs to be

"Autism is a medical illness!".. month

Amen!

The best line we got was, "all this reflux is just a laundry problem, not a medical one"

Our doctor to us that some kids poop once a week and nothing to worry about.
if i had my time again i would have taken one in and put it on his desk.

This is the kind of awareness autism needs. Thanks for writing this and helping shine the light on the medical needs.

How fitting this is to read after the 18-month "well check" appointment I had with my son this morning...

I am "crazy Autism mother" in the Pediatricians office near our home, and as such, the nurses don't even spend much time with me before the doctor comes in. As a side note, our autism and all related is treated by a team out of state as we have one recovering and another who doesn't have autism but clearly has the same metabolic and GI issues as does his brother with autism. The Peds office in my hometown that I'm referring to is used for sick visits, emergencies, and well-checks (until after today, that is.)

At any rate, the first giant red flag was when the Ped and her nurse told me that 2-3 words is "all they expect" from an 18 month old. That's appalling, and I am afraid for my kids more today than I was yesterday. Then, when the "discussion" regarding vaccination ensued, I told her that I declined DTaP (and the rest) for my son as he had an adverse reaction after his second dose. She actually said to me..."oh, it was the pertussis component. We know that it causes fevers, seizures, and sometimes neurological defects. We should just give him a dose of DT." I told her I was confused, because I thought the big scare these days was that pertussis was on the rise again. She said yes, I was correct, but that if there's a reaction to the DTaP, it's most likely the pertussis component and we give diptheria and tetanus alone - complete with that Stepford Wife look on her face. When I asked her how that affords any protection against pertussis, she looked at me blankly, as if the image of "what to say" when questioned about the safety of vaccines seemed to drift from her mind. It was completely obvious that the *point* is to give all vaccines that are manufactured, regardless of what they are, and what side effects they may have on the recipient. She assured me over and over again that vaccines DO NOT cause autism and that autism is genetic, and that I am just being paranoid regarding child #2. Of course, I very calmly asked her to explain to me why I SHOULDN'T be terrified for my second-born if autism is completely genetic. She had no answer, of course. She also told me that she thought my older child must have been misdiagnosed, as she's never heard of a child 'recovering' from autism. And, as a cake topper, bid us farewell and told my 18-month-old "bye-bye, I hope you don't get sick before I see you again." Priceless - for her. She just lost a patient.

"Why has my son lost the ability to eat food? He chokes on even pureed food."
dr: he vomits on purpose to get your attention
"Why has my son stopped talking?"
dr: his sister must be answering for him

Yes, vomiting is so pleasant, that every 2 year old should switch from saying "mommy" to vomiting to get their parents attention. :(

After DAN!, he has regained his speech and can eat again.

Natasa's post ought to be a separate article in itself.

Do you think that a pediatrician could learn a thing or two? Do you think they might be a tad ashamed that a mere parent could put together information to that extent on what besets her child? Do you think a parent would need to do this if the medical community was doing its job? Don't you think its about time the so called purveyors of public health should be doing the job they have been entrusted with, looking after the health and welfare of the children? Its about time the motivation was something other than greed or plain negligence.

Why is my child having diarrhea (for years)? "Oh, diarrhea is normal at this age."

Why did my son lose his language? "You, his family, have done this by catering to his every need before he has to ask."

Why does my son scream and completely lose it when he is near neon lighting? "This is clearly behavioral."

Why has my son had a croupy cough for 4 years? "Nothing to worry about... just take these scripts."

(the numbers in brackets are pubmed references)

Below is a partial summary of some of the current research into this area - people with ASD frequently present with impairments or abnormalities in areas such as motor function and coordination, visual and auditory processing, gastrointestinal function, and immune function. As autism is a highly heterogenous disorder—that is, people on the spectrum will share some key symptoms but individuals will diverge widely—there can be great variation among affected individuals.

However, in looking at trends among individuals studied, numerous findings in recent autism research points to underlying biological abnormalities in:

• neurotransmitter systems (the many chemicals that transmit messages from one neuron to another)
• cholesterol metabolism
• mitochondrial enzyme activities (mitochondria are the power sources in almost every cell in our body)
• levels and secretion rhythms of hormones
• cerebral blood flow (decreased) and cerebral water content (increased)
• markers of oxidative stress (elevated)
• intestinal microflora (including diminished “good” bacteria and increased “bad” or pathogenic bacteria and yeast)
• intestinal damage and inflammation (increased)
• inflammation of the central nervous system

In addition to active, ongoing inflammation of both the gastrointestinal tract and the central nervous system in autism, results of numerous studies point to an abnormality of immune function such as:

• the absence of adaptive immune system/T cell activation following stimulation (the adaptive immune system should respond but does not)
• decreased NK cells activity (natural killer cells are part of the innate, as opposed to adaptive, immune system)
• dysregulated apoptosis mechanisms (apoptosis is when a cell “commits suicide”)
• imbalances of serum immunoglobulin levels (antibodies in the blood)
• increased numbers of monocytes (a type of white blood cell)
• abnormal T helper cell ratio (a type of cell that helps the body to recognize what is foreign)

Below is a partial summary of some of the recent research into abnormal biological markers in people with autism. These findings are organized under nine headings: Neurological abnormalities; Gastronintestinal problems; Neurotransmitter abnormalities; Hormonal abnormalities; Auditory, visual, tactile and oral sensory processing disorders and motor difficulties; Reduced cerebral blood flow and cerebral edema;
Abnormality of the immune function and chronic inflammation; Oxidative stress; and Mitochondrial dysfunction.

Neurological abnormalities in autism:


Various neuropathological and MRI studies have pointed to the following neurological abnormalities in autism:
• significantly elevated calcium levels in autistic brains compared to controls, followed by elevations of mitochondrial aspartate/glutamate carrier rates and mitochondrial metabolism rates (18607376, also see Mitochondrial dysfunction below)
• abnormal neuronal migration in both brainstem and cerebellum and disorganised columns of the cerebral cortex.
• significant reduction in granular and Purkinje cell numbers, often accompanied by gliosis (proliferation of astrocytes in damaged areas of the brain).
• marked neuroglial activation and neuroinflammation (see Immunity and Inflammation below).
• abnormalities of cortical development has been observed in some cases, including areas of increased cortical thickness, high neuronal density, neuronal disorganization and poor differention of neurons.
• abnormalities in brain size and volume, recently linked to increased tissue water content in brain matter
• reduced blood flow to parts of the brain
• abnormalities in the size and densitiy of neurons and less dendritic branching, with increased neuron density and shorter connecting fibers, pointing to delays in neuronal maturation.
• autoantibodies to brain proteins, notably to myelin basic protein, neuron-axon filament protein and glial fibrillary acidic protein (see Immunity/Inflammation).

Use control and click on the link to view the abstracts/papers which present the above findings (15546155, 9619192, 18435417, 9758336, 15749244, 16819561, 16214373, 14519452, 16924017).


Gastrointestinal issues in autism

Individuals with autistic spectrum disorders tend to suffer from various, sometimes severe gastrointestinal problems. Children with ASD have a much higher rate of gastrointestinal (GI) symptoms when compared with children of either typical development or another developmental disorder. The most frequent complaints are chronic constipation and/or diarrhea (frequently accompanied by indigested or partially digested food in stools), gaseousness, and abdominal discomfort and distension (14523189). Decreased sulfation capacity of the liver, pathologic intestinal permeability, increased secretory response to intravenous secretin injection, and decreased digestive enzyme activities have been reported in many children with autism. Treatment of digestive problems is reported to have positive effects on autistic behaviour in some individuals (8888921, 12010627, 1176974).

Defects of innate immune responses in ASD children with GI problems have been detected, and intestinal pathology, including ileocolonic lymphoid nodular hyperplasia (LNH) and mucosal inflammation, with enhanced pro-inflammatory cytokine production, have been noted in various studies. A majority of the children were shown to have chronic swelling of the lymphoid tissue lining the intestines, particularly near where the small and large intestines meet, and chronic inflammation of the large intestine. There is a consistent profile of CD3+ lymphocyte cytokines in the small and large intestinal mucosa of these ASD children, involving increased pro-inflammatory and decreased regulatory activities (16494951, 15741748, 11007230, 15622451). The mucosal immunopathology in children with autism is reported to be suggestive of autoimmune lesion and is apparently distinct from other inflammatory bowel diseases (11986981, 15031638)). See also Immune and Inflammation.

One study examining histologic findings in children with autism revealed high incidence of grade I or II reflux esophagitis, chronic gastritis and chronic duodenitis. The number of Paneth cells in the duodenal crypts was significantly elevated in autistic children compared to controls. Low intestinal carbohydrate digestive enzyme activity was reported in over half of the children with autism, although there was no abnormality found in pancreatic function. Seventy-five percent of the autistic children had an increased pancreatico-biliary fluid output after intravenous secretin administration, suggesting an upregulation of secretin receptors in the pancreas and liver (10547242).

There are also reports of prominent epithelium damage (11241044), and of significant alterations in the upper and lower intestinal flora of children with autism. One striking finding was complete absence of non-spore-forming anaerobes and microaerophilic bacteria from control children and significant numbers of such bacteria from children with autism. The faecal flora of ASD patients was found to contain a higher incidence of the Clostridium histolyticum group of bacteria than that of healthy children (1552850, 12173102, 16157555).


Neurotransmitter abnormalities in autism

Abnormalities in neurotransmitter systems have frequently been recorded in autism. Clinical observations include both elevated and lowered levels of various neurotransmitters compared to controls, including alterations in monoamine metabolism [3654486, 2653386, 3215884], neurotransmitter peptides [9018016, 9315980], with considerably raised levels of beta-endorphin (for vasopressin/oxytocin see Hormones) and altered activities of cholinergic receptors, with binding of muscarinic M(1) receptor being up to 30% and that of nicotinic receptors being 65%-73% lower in the autistic group compared to controls [11431227]. Postmortem brain examination noted abnormalities of the glutamate neurotransmitter system in autism, with specific abnormalities in the AMPA-type glutamate receptors and glutamate transporters in the cerebellum [11706102]

Dysregulations of serotonergic systems in particular have been documented, such as abnormalities in brain serotonin sythesis, with significant reductions in synthesis capacity compared to controls [10072042, 9382481], while at the same time plasma levels of serotonin and free thryptophan appear to be on average 30-50% percent higher in individuals with autism [6204248]. Autoantibodies to serotonin receptors [9067002] and reduced receptor binding have also been recorded [16648340]. Of note is that one study found correlation of elevated plasma serotonin levels and the the major histocompatibility complex (MHC) types associated with autism [8904735].

Relative to expression and function of nicotinic receptors in autism, significantly lowered binding of some agonists to nicotinic receptors has been observed. For example binding of the agonist epibatidine in cortical areas to was up to 73% lower in autism group compared to controls. As with serotonine receptors, some of the nicotinic receptors have been noted to be significantly permeable to calcium and so able to regulate several neuronal processes…. Of interest are the preliminary reports of therapeutic action of galantamine in autism [15152789, 17069550], considering that neuroprotective actions of galantamine are thought to be linked to its modulation of nicotinic receptors [12649296].

A postmortem study revealed greatly reduced levels of glutamic acid decarboxylase (GAD) 65 and 67 kDa proteins in several areas of the brains of individuals with autism [12372652].This was confirmed by more recent results that showing GAD67 mRNA level reduced by 40% in the autistic group when compared to controls [17235515]. Another study found serum levels of glutamate in the patients with autism were significantly higher than those of normal controls [16863675].


Hormonal abnormalities in autism


Abnormalities in hormonal metabolism are frequently observed in individuals with autism, with several studies observing abnormal levels of many hormons and their receptors compared to healthy controls, as well as abnormal hormonal secretion rhythms [2713159, 1904373, 12959423, 10808042].

For example the analysis of the Hypothalamic-Pituitary-Adrenocortical (HPA) system responses observed more variable circadian rhythm as well as significant elevations in cortisol following exposure to a novel stimulus in children with autism compared to controls. This exaggerated cortisol response is indicative of dysfunction of the HPA system in autism (16005570). Over-reaction of the endocrine system to insulin stress in autism has been recorded in another study, whereas the experimental stress of insulin-induced hypoglycemia showed slower recovery of blood glucose, much faster cortisol response and elevation of growth hormone levels compared to controls (1176974, 2870051). Low levels of insulin-like growth factor-I (IGF-I) in cerebrospinal fluid have also been observed (16904022).

Metabolic disorders of serotonin and dopamine systems have been suggested in autism, with approximately thirty percent of individuals with autism exhibiting high levels of serotonin, simultanous with lowered levels of melatonin (see Neurotransmitters). Melatonin is converted from serotonin by several enzymes of the pinealocytes in the pineal gland, including 5-HT N-acetyl transferase and 5-hydroxyindole-O-methyltransferase. Results of the studies looking at sleep disturbances in autism suggest that both dyssomnias and parasomnias are very prevalent in the disorders - people with autism frequently experience sleep disorders and exhibit atypical sleep architecture (10722958, 15705609, 17001527). Further evidence of dysfunction of pineal endocrine system in autism was obtained by looking at alterations of the light and dark circadian rhythm of melatonin, where none of autistic patient showed a normal melatonin circadian rhythm, together with once again significantly lower levels of this hormone (11455326).

Leptin is a hormone linked to melatonin that plays an important role in amongst other things regulation of appetite and metabolism. Results from a recent study have demonstrated significant differences in leptin concentrations between children with autism and controls (17347881).

Auditory, visual, tactile and oral sensory processing disorders and motor difficulties in autism


Individuals with autism often present with auditory, visual, tactile and oral sensory processing disorders, as well as various forms of motor difficulties, including dyspraxia (occasionally linked to low muscle tone), dystonia (involuntary, sustained muscle contractions) and ataxia (16940314, 17016677, 15514415, 16903124, 12639336). Visual disturbances in autism often include abnormalities of colour perception (16598434) and weak visual coherence. Retinal dysfunction in autism has been suggested, as well as deficits in visual processing in dorsal cortex (3341467, 15958508). Abnormal pain perception is sometimes present in autism, as well as self-injurious behaviour.

Dyspraxia is a disorder of coordination that can also be described as a difficulty with planning a sequence of coordinated movements, or in the case of ideo-motor dyspraxia, a difficulty with executing a known plan. Various areas of difficulty can include speech and language, fine motor control (eg handwriting or holding pencil in a correct way), poor spacial awareness and timing and balance of body movements and difficulty combining movements, poor physical play skills (throwing and catching a ball) and difficulty in manipulating small objects. Ataxia refers more specifically to a failure of muscle control in limbs, often resulting in a lack of balance and coordination and abnormal gait.

Reduced cerebral blood flow and cerebral edema in autism

Results of several studies have shown abnormal platelet reactivity and altered blood flow in children with autism. Following these findings it has been suggested that platelet and vascular endothelium activation could be one of the contributing factors to the development and clinical manifestations of the disorder (16908745). Relative to this the following case reports are of particular interest, both describing cases of inflammation of brain blood vessels resulting in loss of language and emergence of symptoms of autism. In both cases administration of nicardipine lead to recovery of language and behaviour (1373338, 11008286).

PET and SPECT scans in autistic children show a decreased cerebral blood floow in some regions of the brain (12077922, 10960047, 7790938) and cerebral water content was found to be raised in brain grey matter in children with autism (16924017). A model has been suggested in which the observed gray matter abnormality could be inflammatory (see Immunity-Inflammation section below). This finding of celebral edema at the same time offered an alternative explanation for enlarged brain size in autism, which up to then had been hypothesised to be due to lack ‘pruning’ of neurons during development.


Abnormality of the immune function and chronic inflammation in autism

Results of numerous studies point to an abnormality of the immune function in autism, as well as active, ongoing inflammation in the GI tract, the brain and the cerebrospinal fluid (CSF).

A recent study by Vargas et al (15546155) investigated the presence of immune activation in postmortem brain specimens and CFS from subjects with autism. The authors found active neuroinflammation in multiple areas of the brain, for example in the cerebral cortex and white matter, and in the cerebellum. A marked migroglial and astroglial activation was also found, as well as the presence of an altered cytokine pattern, with macrophage chemoattractant protein (MCP)-1 and tumor growth factor-beta1 (TGF-beta1) being the most prevalent cytokines. There was also an accumulation of macrophages and monocytes, and a marked absence of lymphocytes and antibodies, pointing toward an innate neuroimmune activation with the absence of adaptive immune system/T cell activation in the brain. In addition, an enhanced proinflammatory cytokine profile was observed in the CSF, including once more a marked increase in MCP-1. These observations resemble findings in other neurological disorders in which elevations in cytokine levels is associated with the pathogenesis of neuroinflammation, neurotoxicity and neuronal injury and subsequent behavioural and cognitive impairments, for example HIV-associated dementia and multiple sclerosis (15288500, 11282546, 16875710, 9852582). Animal experiments illustrate that, during early pre and postnatal development, inflammatory cytokine challenge can induce various psychological, behavioral and cognitive impairments (17804539, 16147952, 9852582). At the same time the expression of many cytokines, including MCP-1, in neurons and glial cells seems to be upregulated by increased intracellular calcium triggered by membrane depolarisation (11102468, 10943723).

Various serological findings further confirm the presence of immune system dysregulation and active inflammation in autism - raised levels of proinflammatory cytokines have often been observed in blood of patients with autism, with significant increases of IFN-gamma, IL-6 and TNF-alpha. These results are followed by findings of decreased peripheral lymphocyte numbers, incomplete or partial T cell activation following stimulation, decreased NK cells activity, dysregulated apoptosis mechanisms, imbalances of serum immunoglobulin levels, increased numbers of monocytes and abnormal T helper cell (Th1/Th2) ratio, with a Th2 predominance, and without the compensatory increase in the regulatory cytokine IL-10 (16698940, 16360218). It is of interest to note that, following increased levels of TGF-beta1 in brain specimen as observed by Vargas et al, this cytokine was found to be significantly lower in the blood of adult patients with autism compared to controls (17030376).

Another relevant observation is the elevation of cerebrospinal fluid levels of TNF-alpha compared to its serum levels in subjects with autism. The observed ratio of 53.7:1 is significantly higher than the elevations reported for other pathological states for which cerebrospinal fluid and serum tumor necrosis factor-alpha levels have been simultaneously measured (17560496).

It has been suggested that prenatal viral infection might dysregulate fetal immune system, resulting in viral tolerance in autism (139400). Studies showing altered T-cell subsets raised suspicions about possibile autoimmune aspects of autism and several studies pointed to association of the risk of autism to immune genes located in the human leukocyte antigen (HLA) (16720216, 15694999). The immune system uses the HLAs to differentiate self cells and non-self cells and some of them are linked with higher risk of autoimmune disorders. Animal studies show that behavioural changes follow onset of autoimmune disease and can be reversed through immune-suppressive treatments (8559794), and although various autoantibodies to brain antigens have been observed in autism, the results of those studies are often conflicting. In addition to the inconsistent findings the question has been raised as to whether those autoantibodies would be pathogenic contributors or mere consequences of the the disorder. Of note in this context is the finding pointing to possible association of virus serology and brain autoantibodies in autism (9756729).

Oxidative stress in autism

Oxidative stress is defined as an imbalance between pro-oxidants and anti-oxidants, resulting in damage to cell by reactive oxygen species (ROS). During times of environmental stress ROS levels can increase dramatically which can result in significant damage to cell structures, especially in absence of anti-oxidant defences, such as the enzymes superoxide dismutase, catalase, glutathione peroxidase and glutathione reductase or antioxidant vitamins A, C and E and polyphenol antioxidants. There is mounting evidence that abnormalities of ROS and nitric oxide (NO) may underlie a wide range of neuropsychiatric disorders. Abnormal methionine metabolism, high levels of homocysteine and oxidative stress are also generally associated with neuropsychiatric disorders. NO signalling has been implicated in a number of physiological functions such as noradrenaline and dopamine releases. It is thought to have neuroprotective effects at low to moderate concentrations, but excessive NO production can cause oxidative stress to neurons thus impairing their function.

Studies comparing the level of homocysteine and other biomarkers in children with autism to controls showed that in children with autism there were highter levels of homocysteine, which was negatively correlated with glutathione peroxidase activity, low human paraoxonase 1 arylesterase activity, suboptimal levels of vitamin B 12 (16297937, 12445495) and increased levels of NO (12691871, 14960298).

Lipid peroxidation was found to be elevated in autism indicating increased oxidative stress. Moderate to dramatic increases in isoprostane levels (16081262, 16908745), decreased levels of phosphatidylethanolamine and increased levels phosphatidylserine (16766163) were observed in children with autism as compared to controls. Levels of major antioxidant proteins transferrin (iron-binding protein) and ceruloplasmin (copper-binding protein) were found to be significantly reduced in sera of autistic children. A strong correlation was observed between reduced levels of these proteins and loss of previously acquired language skills (15363659).

Another study measured levels of metabolites in methionine pathways in autistic children and found that plasma methionine and the ratio of S-adenosylmethionine (SAM) to S-adenosyl-homocysteine (SAH), an indicator of methylation capacity, were significantly decreased in the autistic children relative to controls. In addition, plasma levels of cysteine, glutathione, and the ratio of reduced to oxidized glutathione, indicative of antioxidant capacity and redox homeostasis, were significantly decreased in autistic group. The same study evaluated common polymorphic variants known to modulate these metabolic pathways in 360 autistic children and 205 controls. Differences in allele frequency and/or significant gene-gene interactions were found for relevant genes encoding the reduced folate carrier (RFC 80G), transcobalamin II (TCN2 776G), catechol- O-methyltransferase (COMT 472G), methylenetetrahydrofolate reductase (MTHFR 677C and 1298A), and glutathione-S-transferase (GST M1) (16917939).


Mitochondrial dysfunction in autism

Mitochondrial dysfunction with defects in oxidative phosphorylation has been suspected in autism and several recent findings that show abnormalities in mitochondrial enzyme activities that support hypothesis. Postmortem examination of autistic brains revealed significantly elevated calcium levels in autistic brains compared to controls, followed by elevations of mitochondrial aspartate/glutamate carrier rates and mitochondrial metabolism and oxydation rates (18607376, also see Brain and Oxidative Stress sections above).

When compared to controls autistic patients show significantly lower carnitine levels, followed by elevated levels of lactate, aspartate aminotransferase, creatine kinase and significantly elevated levels of alanine and ammonia (16566887, 15739723, 15679182). A pilot study investigating brain high energy phosphate and membrane phospholipid metabolism in individuals with autism found decreased levels of phosphocreatine and esterified ends (alpha ATP + alpha ADP + dinucleotides + diphosphosugars) compared to the controls. When the metabolite levels were compared with neuropsychologic and language test scores, a common pattern of correlations was observed across measures in the autistic group, wherein as test performance declined, levels of high energy phosphate compounds and of membrane building blocks decreased, and levels of membrane breakdown products increased. The authors concluded that the results of the study provided tentative evidence of alterations in brain energy and phospholipid metabolism in autism that correlate with the level of neuropsychologic and language deficits (8373914).

I loved your article and I look forward to your website. Why don't we start a petition to get autism out of the DSM ? We could force Dr's to look at this as the medical disorder it is.

Why is my child having seizures? Chief Ped Neuro: UH Cleveland, "She has autism, different circuitry."

Mia needed suppositories to poop within 2 weeks of eating gluten for the first time. "It's normal for babies to stop pooping when you add foods."

Gianna having red papery cheeks and rheumy eyes for years. "Fluid in the ears is normal. Let's put in tubes."

Beautifully written article, Jill. It touched upon what I feel in my own heart toward all pediatricians who refuse to learn what we, the parents of ASD children, have been compelled to learn in order to improve the lives of our children. That said, there are some decent and knowledgeable pediatricians out there, who do understand and who do care. Most, however, do not have the courage, or desire to acknowledge the damage caused to our children by their prized vaccines. Most pediatricians would prefer to look away from us, ignore us, and/or throw us out of their practices, rather than face the obvious truth about over-vaccination. The imprint of vaccine damage is so very clear to anyone who can overcome their medical school indoctrination.

Here, here! My son's explosive diahhrea "too much juice" and "kids with autism just have poop problems because they don't eat well", 3 sets of ear tubes for unrelenting ear infections and no response to anti-biotic "happens to some kids", his incredibly low IgA and IgM "irrelevant", his top end of normal CPK test result, did he mention possible mito issue,no he said "it's still in the normal range", "conjunctivitus for 3 weeks, "wash your hands often" emergency room visits for croup with blue lips and stridor, "try turning on the shower", lying on the floor all day "bored", screaming inconsolably constantly "terrible two's". All this brilliance from a Harvard Medical School Pediatrics Faculty Member with appointments at all the big Boston teaching hospitals.

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