passionless Droning about autism

Extremely Long Overdue Clinical Findings “Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances”, and The Swan Song Of A Tragically Overused Autism Canard

Posted on: January 9, 2012


Hello friends –

My son was a ‘gut kid’.  The irony is, for a while, because we were first time parents, we didn’t even know.  My son was flagged for evaluation for autism around a year of age and we met with the autism center people several times between his first and third birthdays, with his official diagnosis coming just after he turned three.  My wife came home from one of the early meetings convinced that his evaluators didn’t know the first thing about our son, autism, or anything else, and that in fact, they might be insane.

 ‘Do you know what those idiots asked me today?’

‘What?’

‘What his shits look like.  My kid can’t talk and they want to ask me about his diapers!’

‘Who fucking cares?

We wound up caring, a lot.  It turns out, this wasn’t a stupid question, it just seemed like one to us.   The answer to their question was that our son was having at least four or six very messy diapers a day, his stools were never firm logs that look like they came from an spherical filter, but always, always more liquid than solid, and frequently contained chunks of identifiable food.  But from our viewpoint, within the context of a child who was not speaking,  hurting himself, and never looked at anyone, the idea that we should be worrying about his shit was the stupidest thing we’d ever heard. 

But.  When we started paying attention, starting reading, and started meeting more people with children with autism, our incredulity waned.  We  tried GF/CF and probiotics.  We paid for lab tests to analyze the bacterial populations in his intestines. We experienced a life saving miracle with anti-fungal agents wherein my son essentially stopped hurting himself over the course of weeks after persistently banging his head dozens of times a day for six months.  For nearly a year we removed all complex carbohydrates from our son’s diet, an intervention that makes GFCF feel like a Sunday afternoon after college but before kids and autism.  We saw changes in our son based on how his GI tract was performing.  For our son, for us, we knew that by some mechanism, what got put in his mouth, and what happened along the way was tightly coupled with how our son felt and behaved.

This is why my vision with spots of rage when I see the ideas of GI and dietary involvement with autism mocked by pseudo-skeptics so rampantly on the Internet.  I cannot stand the thought of a single child continuing to suffer the way I watched my son suffer because they were told that there was no basis of GI interaction in autism.  That thought hurts.

Those biases stated, we are now, finally, starting to see research indicating that in some cases of autism, there are very real, non imaginary differences in GI function.

A few months ago, Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances was published [full, dense, but very cool paper available online].  Here is the abstract.

Gastrointestinal disturbances are commonly reported in children with autism, complicate clinical management, and may contribute to behavioral impairment. Reports of deficiencies in disaccharidase enzymatic activity and of beneficial responses to probiotic and dietary therapies led us to survey gene expression and the mucoepithelial microbiota in intestinal biopsies from children with autism and gastrointestinal disease and children with gastrointestinal disease alone. Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes. Deficient expression of these enzymes and transporters was associated with expression of the intestinal transcription factor, CDX2. Metagenomic analysis of intestinal bacteria revealed compositional dysbiosis manifest as decreases in Bacteroidetes, increases in the ratio of Firmicutes to Bacteroidetes, and increases in Betaproteobacteria. Expression levels of disaccharidases and transporters were associated with the abundance of affected bacterial phylotypes. These results indicate a relationship between human intestinal gene expression and bacterial community structure and may provide insights into the pathophysiology of gastrointestinal disturbances in children with autism.

I’ll admit it.  From the outside, from the don’t-have-a-kid-with-autism-and-GI-problems perspective, that is some dense and seemingly bland stuff.  Essentially children with GI distress and children with GI distress and autism were compared and it was found that there were distinctly qualitative differences regarding the GI function in the groups.  This is validation of what a lot of us have been saying for a long time, that the GI problems our kids were experiencing weren’t coincidental to the autism, but somehow related.

For anyone who has been paying attention to the details of the autism-gut debate, these are dynamite findings.  These observations are the death knell for the overused, oversimplified notion that the GI connection to autism was a function of some kids having autism, some kids having GI distress, and that therefore, some kids with autism also have GI distress.  This research tells us that the reality is not so simple.

This study is the view from the microscope as opposed to the telescope, and took care not to study just anyone with an autism diagnosis, but those with an autism diagnosis and GI distress, problems so severe that invasive procedures to obtain tissue samples from the GI tract was warranted.   This is a critically important facet of the study design in my opinion, a lot of the negative findings in this arena have been epidemiological, and cast the widest possible net, capturing everyone with autism and comparing them with a sample of everyone else.  This is a great strength of the paper; for too long everyone has acknowledged the heterogeneous nature of autism, but few studies have tried to understand differences at a phenotype level.  This paper is different.

As evidence of the non-random population, the autism patient group had a regression incidence of over eighty percent, and nearly as many of the children in both groups were reported to have food allergies.

The details of the findings in the paper get deep pretty fast, but at a high level there were differences found in proteins involved with the digestion of carbohydrates and changes in bacterial populations between the groups, with some differences found with regard to specific locations in the intestine.  Based on these findings, the authors speculate that alterations in carbohydrate processing could result in abnormal bacterial populations by way of altered microbial food availability in parts of the gut.

Based on these findings, we propose a model whereby deficiencies in disaccharidases and hexose transporters alter the milieu of carbohydrates in the distal small intestine (ileum) and proximal large intestine (cecum), resulting in the supply of additional growth substrates for bacteria. These changes manifest in significant and specific compositional changes in the microbiota of AUT-GI children (see Figure 7A–C).

The authors discuss a potential feedback loop of effects of intestinal microbes and nutritional processing, and of the known and potential effects of altered bacterial populations.

Additionally, intestinal microbes can influence the expression of disaccharidases and transporters [59] through the influence of pathogen-associated molecular patterns (PAMPs) and butyrate (a byproduct of bacterial fermentation) on CDX2 expression and activity [60], [61], [62], [63]. In this regard, the observation that CDX2 was decreased in AUT-GI children with increased levels of Betaproteobacteria may be important.

Whatever the underlying mechanisms, reduced capacity for digestion and transport of carbohydrates can have profound effects. Within the intestine, malabsorbed carbohydrates can lead to osmotic diarrhea [64]; non-absorbed sugars may also serve as substrates for intestinal microflora that produce fatty acids and gases (methane, hydrogen, and carbon dioxide), promoting additional GI symptoms such as bloating and flatulence [65].

This is very similar to the underlying theory of the Specific Carbohydrate Diet, impaired carbohydrate digestion promotes bacterial imbalances in the intestine by altered food availability, leading to gastrointestinal distress.

Because of the varied nature of the protein imbalances found and absence of the common alleles associated with such conditions, the authors report that it is unlikely that the underlying cause of the imbalances is genetically based.

In our study, 93.3% of AUT-GI children had decreased mRNA levels for at least one of the three disaccharidases (SI, MGAM, or LCT). In addition, we found decreased levels of mRNA for two important hexose transporters, SGLT1 and GLUT2. Congenital defects in these enzymes and transporters are extremely rare [40], [41], and even the common variant for adult-type hypolactasia was not responsible for reduced LCT expression in AUT-GI children in this cohort. Therefore, it is unlikely that the combined deficiency of disaccharidases (maldigestion) and transporters (malabsorption) are indicative of a primary malabsorption resulting from multiple congenital or acquired defects in each of these genes.

There are a couple of ideas presented on what might be causing the altered disaccharide transporter levels, with food composition intake, immune or hormonal irregularities, and bacterial populations and their associated fermentation byproducts listed as possible candidates.  This study did not attempt to determine if any of these things were actually responsible, but an upcoming paper will also detail qualitative differences in expression of genes involved with inflammation in the autism group.

Regarding bacterial populations found, there were several differences identified by bacterial classification and location as well as some associations with onset of autistic behaviors and GI distress.

Pyrosequencing analysis of mucoepithelial bacteria revealed significant multicomponent dysbiosis in AUT-GI children, including decreased levels of Bacteroidetes, an increase in the Firmicute/Bacteroidete ratio, increased cumulative levels of Firmicutes and Proteobacteria, and increased levels of bacteria in the class Betaproteobacteria.

Stratification of AUT-GI children based on the timing of GI symptom development relative to autism onset revealed that the levels of Clostridiales and cumulative levels of Lachnospiraceae and Ruminococcaceae were significantly higher in AUT-GI children for whom GI symptoms developed before or at the same time as the onset of autism symptoms compared to AUT-GI children for whom GI symptoms developed after the onset of autism and compared to Control-GI children. However, we cannot discern whether changes in Clostridiales occurred before the onset of autism in this subgroup. We can only conclude that increased levels of Clostridiales members in biopsies taken after the development of both GI symptoms and autism are associated with the timing of GI onset relative to autism onset in this cohort. Although the reason for this association remains unclear, this finding may suggest that the timing of GI onset relative to autism is an important variable to consider in the design of future prospective studies investigating the microbiota of children with autism.

I am in love with the appreciation of the subtlety on display at the end, it may not be sufficient to simply categorize by GI and non GI autism, but also by the temporal relationship to onset of behavioral symptoms.  It makes for a messy outlook going forward, but one based on pragmatism as far as coming to valid conclusions.

As is appropriate, the authors end with an admission that we are still largely groping in the dusk about how the microbiome interacts with our tightly coupled systems, but give a variety of reasons to believe that what we do know makes system wide effects reasonable and a relationship with autism plausible.

Metabolic interactions between intestinal microflora and their hosts are only beginning to be understood. Nonetheless, there is already abundant evidence that microflora can have system-wide effects [76], [77], [78], [79], [80], [81], [82], [83] and influence immune responses, brain development and behavior [24], [25], [26], [84], [85].

No kidding!

It should be noted that this paper is a child of a 2010 IMFAR abstract, Intestinal Inflammation, Impaired Carbohydrate Metabolism and Transport, and Microbial Dysbiosis in Autism.  If I understand correctly, another paper is being prepared regarding the findings of intestinal inflammation that will be complimentary to Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances.  I’ll try to post something when it is published.

This study was small, with only twenty two participants, largely as a result of the difficulty in obtaining tissue specimens.  While this does give us cause for caution, it is important to note that this research does not exist in a vacuum, but rather, as a much larger set of research that tell us that the relationship between GI complaints and autism is more than the inceptions of DAN doctors.  Previously, Gastrointestinal abnormalities in children with autistic disorder, performed similar biochemistry and reported broadly consistent carbohydrate digestion problems, ‘Low intestinal carbohydrate digestive enzyme activity was reported in 21 children (58.3%), although there was no abnormality found in pancreatic function.’  Several other papers analyzing fecal samples have reported altered bacterial populations, including Low relative abundances of the mucolytic bacterium Akkermansia muciniphila and Bifidobacterium spp. in feces of children with autism, Gastrointestinal flora and gastrointestinal status in children with autism–comparisons to typical children and correlation with autism severity, Fecal lactoferrin and Clostridium spp. in stools of autistic children, and Pyrosequencing study of fecal microflora of autistic and control children, among others.

If the findings from this latest paper are spurious finding based on sample size problems, a lot of other studies are coincidentally finding the same type of thing in the wrong way.   Does anyone think that is likely?

I entered the autism world and online autism debate from a place of seeing with my own eyes the failures of a toddlers GI function and the difficult to overstate changes in that toddler alongside improvements in his GI health.  On one of the first autism blogs on which I participated I got into a discussion (argument?) with a blogger who I came to respect very much, but has since moved on.  I described the fact that my son had six or more diarrhea stools, a day, every day, for months on end, and that when we added dietary changes, probiotics, and later antifungal agents, the changes to his GI function were profound and impossible to misinterpret.  He told me something along the lines that humans were susceptible to illusions and sleight of hand, and I thought, ‘as if not knowing the difference between diarrhea and a log was along the lines of figuring out where the jack of spades went!’.   I couldn’t believe, could not fucking believe, someone would try to convince me that I had imagined my sons problems, and associated recovery.   This wasn’t a sugar pill study where I was asked if my child acted more or less hyperactive, this was a matter of asking myself, ‘How many diarrhea diapers did I change today?  Six?  Or Zero?’  [Repeat once a day for 180 days.]

I doubt this is necessary, but just in case, I will go on the record to state that it is easy, very easy, to tell the difference between a condition of chronic diarrhea and normal GI function.  There might not be a more simpleminded determination to make on Planet Earth or indeed, our perceptible universe.   This is a situation that is susceptible to placebo effects only in the most elaborate imaginations of people who have never experienced chronic GI problems.

From that time on, with nearly zero exceptions, I have become a little less shocked, but a little more saddened by the doublethink style skepticism applied to GI distress and autism in nearly every single conversation I have ever seen on the Internet.  I’ve put some time thinking toward this, why so many otherwise intelligent people house such extreme hostility on a relationship between GI function and autism.  I believe that the Wakefield / MMR autism debacle is at the heart of this disconnect; his ill fated and now retracted paper that launched a thousand Internet scribbles has seemingly forever tied GI complaints and autism to bad science.

It doesn’t have to be this way.  As a community, the vaccine wars and kissing cousin prevalence question has done a lot to fracture us, and very little to unite us.  That is a sad statement, and nothing makes it more unfortunate than the fact that it does not have to be this way.  Wakefield can be wrong about the MMR and there can still be very real differences in GI function in some cases of autism.  We can respectfully disagree about how well our existing prevalence studies inform us on the incidence of autism without also needing to accept a world view where every child with autism has raging bowel problems.

We should have the intellectual honesty to admit that there is nothing inherently dangerous about acknowledging what the data tells us; GI function seems to be abnormal in a subset of children with autism, and the underlying features of that GI distress are qualitatively different than what is found in ‘normal’ children.

–          pD

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23 Responses to "Extremely Long Overdue Clinical Findings “Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances”, and The Swan Song Of A Tragically Overused Autism Canard"

Hi pD
Remember when probiotics were considered as irrelevant to ASD?
Gastroenterol Res Pract. 2011;2011:161358. Epub 2011 Oct 26.
The potential role of probiotics in the management of childhood autism spectrum disorders.
Critchfield JW, van Hemert S, Ash M, Mulder L, Ashwood P.
http://www.ncbi.nlm.nih.gov/pubmed/22114588
When nutrition was considered as irrelevant to ASD?
BMC Pediatr. 2011 Dec 12;11(1):111. [Epub ahead of print]
Effect of a vitamin/mineral supplement on children and adults with autism.
Adams JB, Audhya T, McDonough-Means S, Rubin RA, Quig D, Geis E, Gehn E, Loresto M, Mitchell J, Atwood S, Barnhouse S, Lee W.
http://www.ncbi.nlm.nih.gov/pubmed/22151477
J Am Coll Nutr. 2011 Oct;30(5):348-53.
Autism rates associated with nutrition and the WIC program.
Shamberger RJ.
http://www.ncbi.nlm.nih.gov/pubmed/22081621
when postnatal xenobiotics were considered irrelevant to ASD?
BMC Neurol. 2011 Nov 4;11:139.
Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia.
Al-Yafee YA, Al-Ayadhi LY, Haq SH, El-Ansary AK.
http://www.ncbi.nlm.nih.gov/pubmed/22051046
I wonder, more than ever, what the future will bring….
more high quality research is needed- and urgently-on this and other topics…some years ago these concerns were dismissed at face value when presented- whatever how you presented them..
and in terms of GI issues in ASD, the quality , severity and presentation is particular individually in ASD and these characteristics should be properly researched- especially taking into account other CMPs to the ASD diagnosis …

Hi Maria, my old friend –

Indeed, I do remember all of those things. Things sure have changed! I look forward to the future for lots more.

– pD

I wish I could have pressed the Like button more than once!

“I described the fact that my son had six or more diarrhea stools, a day, every day, for months on end, and that when we added dietary changes, probiotics, and later antifungal agents, the changes to his GI function were profound and impossible to misinterpret.”

Sounds so familiar. This was my old life. GF/CF and the Specific Carbohydrate Diet improved my son’s life. It was not an immediate fix, but as his gut healed we saw huge improvements across the board (language, GI issues, mood, personality, health, etc.).

If we had listened to the nay sayers, Brody would not be doing as well as he is now.

Hi A Ventography –

Thanks for stopping by my blog and your kind words. I am saddened by the thought of another child who has suffered, but tales of improvement and joy are welcomed.
– pD

Fabulous post! Thanks!

This research will probably end up at least vindicating the work of John Walker-Smith and team (though I won’t be holding my breath for the apology).

IMFAR 2010 Abstract

Conclusions: We describe a distinctive syndrome in autistic children wherein gastrointestinal dysfunction is associated with altered gene expression reflecting intestinal inflammation, impaired carbohydrate metabolism and transport, and dysbiosis.

The 2011 Paper (Blink if you missed it) said

“Eighty-seven percent of AUT-GI subjects had behavioural regression.”

So what do we begin to understand.

A unique gastrointestinal syndrome with features reflecting intestinal inflammation. Where 87% of the patients lose acquired skills and develop aberrant behaviours.

Sound familiar, does to me …

Barbara Irene Kazmierczak, PhD, MD at Yale
ssociate Professor of Medicine (Infectious Diseases) and of Microbial Pathogenesis seems to be doing some interesting work in this area.

http://medicine.yale.edu/intmed/infdis/people/barbara_kazmierczak-3.profile

Also this link shows many researchers undertaking studies around this issue…

http://www.keystonesymposia.org/meetings/viewMeetings.cfm?MeetingID=1170

Children with autism, gastrointe­stinal symptoms have high levels of Sutterella in their gut.

More evidence of the importance of John Walker-Smi­th and the Lancet paper.

1. New research conducted at Columbia University reports that children with autism and gastrointe­stinal disturbanc­es have high levels of a bacterium called Sutterella in their intestines­.

2. Over half of the children diagnosed with autism and gastrointe­stinal disturbanc­es had Sutterella in intestinal biopsy tissue, while Sutterella was absent in biopsies from typically developing children with GI

3. Sutterella was present at remarkably high levels.

4. Western immunoblot­s revealed plasma IgG or IgM antibody reactivity to Sutterella wadsworthe­nsis antigens in 11 AUT-GI patients, 8 of whom were also PCR positive, indicating the presence of an immune response to Sutterella in some children.

5. Brent Williams, PhD, the lead author on the study. “There is much work to be done toward understand­ing the role Sutterella plays in autism, the microbiota­, infections­, and inflammati­on.”

6. Previous studies identified Sutterella in samples from Crohn’s disease and Ulcerative colitis.

Crohn’s disease.

http://www.ncbi.n­lm.nih.gov­/pubmed/19­712374

Crohn’s disease and ulcerative colitis.

http://www­.ncbi.nlm.­nih.gov/pm­c/articles­/PMC169834­7/

7. it is not known whether this bug is a cause or a consequenc­e of such inflammato­ry bowl disorders

http://mbi­o.asm.org/­content/3/­1/e00261-1­1.full

http://www­.news-medi­cal.net/ne­ws/2012011­2/Children­-with-auti­sm-gastroi­ntestinal-­symptoms-h­ave-high-l­evels-of-S­utterella-­in-their-g­ut.aspx

Also commentary Paul Patterson CIT

Gut-associ­ated bacterial microbiota in paediatric patients with inflammato­ry bowel disease.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/16648­155

Reduction in diversity of the colonic mucosa associated bacterial microflora in patients with active inflammato­ry bowel disease.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/15082­587

Gut microbiota and inflammati­on.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/22254­115

Reduction in diversity of the colonic mucosa associated bacterial microflora in patients with active inflammato­ry bowel disease.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/15082­587

Gut microbiota and pediatric disease.

In the brain-gut axis view, gut microbiota could also play a role in autism.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/22179­208

The potential role of probiotics in the management of childhood autism spectrum disorders.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/22114­588

Pathways underlying the gut-to-bra­in connection in autism spectrum disorders as future targets for disease management­.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/21810­417

State of the art; microbiolo­gy in health and disease. Intestinal bacterial flora in autism.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/21524­713

Gastrointe­stinal flora and gastrointe­stinal status in children with autism–co­mparisons to typical children and correlatio­n with autism severity.

http://www­.ncbi.nlm.­nih.gov/pu­bmed/21410­934

http://www.ncbi.nlm.nih.gov/pubmed/22119694 Received this just this morning from autismspeaks. I hope this has not been covered. I have to get to the dentist.

You delve deeper than so many, while trying to remain objective. Thanks.

PLEASE read link in my second post. Teaser:
“They [children with autism] were seven times more likely to have experienced these gastrointestinal problems than were children without any developmental disability”

Here it is again. http://blog.autismspeaks.org/2012/01/24/autism-and-associated-medical-conditions/

Science and parents must work together. Neither has a corner on the truth. PKU was discovered by a scientist because of an insistent mother who said her kids “smelled funny” after eating. A special diet can keep kids out of institutions, and keep them from suffering from an early death. My son’s speech therapist had 2 sisters who had PKU. Now, every child is tested at birth. There is precedence for diet and severe disability.

Keep it up. We love having a voice!

Hi Usethebrainsgodgiveyou – 

That is a pretty neat paper, thank you for pointing it out to me.  That is one I am going to have to try to get a copy of.  I was surprised to see no real differences in some of the other conditions, like eczema.  

– pD

________________________________

Hi pD

A new paper on mice model and infection you would be interested in

http://www.nature.com/nature/journal/v481/n7382/full/481413d.html?WT.ec_id=NATURE-20120126

Thanks, Blackheart! That does look pretty neat. I really hate the move by Nature to give you a teaser of an editorial though. Jerks.

Here is the paper: Prenatal immune activation interacts with genetic nurr1 deficiency in the development of attentional impairments

Prenatal exposure to infection has been linked to increased risk of neurodevelopmental brain disorders, and recent evidence implicates altered dopaminergic development in this association. However, since the relative risk size of prenatal infection appears relatively small with respect to long-term neuropsychiatric outcomes, it is likely that this prenatal insult interacts with other factors in shaping the risk of postnatal brain dysfunctions. In the present study, we show that the neuropathological consequences of prenatal viral-like immune activation are exacerbated in offspring with genetic predisposition to dopaminergic abnormalities induced by mutations in Nurr1, a transcription factor highly essential for normal dopaminergic development. We combined a mouse model of heterozygous genetic deletion of Nurr1 with a model of prenatal immune challenge by the viral mimetic poly(I:C) (polyriboinosinic polyribocytidilic acid). In our gene-environment interaction model, we demonstrate that the combination of the genetic and environmental factors not only exerts additive effects on locomotor hyperactivity and sensorimotor gating deficits, but further produces synergistic effects in the development of impaired attentional shifting and sustained attention. We further demonstrate that the combination of the two factors is necessary to trigger maldevelopment of prefrontal cortical and ventral striatal dopamine systems. Our findings provide evidence for specific gene-environment interactions in the emergence of enduring attentional impairments and neuronal abnormalities pertinent to dopamine-associated brain disorders such as schizophrenia and attention deficit/hyperactivity disorder, and further emphasize a critical role of abnormal dopaminergic development in these etiopathological processes.

Very nice! I wonder how my pubmed alerts missed that one?

Thanks a lot.

– pD

Paul Patterson has a commentary on a new GI paper perhaps you could give us some of your thoughts pD …

http://infectiousbehavior.wordpress.com/2012/02/13/gi-problems-in-autism/

Hi Blackheart –

Unfortunately, I haven’t had time to read this one yet (or even get a copy). But the take home message to me is largely similar; GI problems in the autism cohort are not imaginary. I do appreciate very much the association between GI problems (constipation) and reduced functioning as measured by social interaction and ‘lack of expressive language’. I am also reminded, again, of the sadness of the situation in that the default position to be tested was one that parents were ‘over reporting’ GI problems in their children.

The final sentence of the abstract from the Levit paper, These findings are consistent with a hypothesis that GID in ASD represents pleiotropic expression of genetic risk factors seems a bit of a stretch taking into consideration the rest of the abstract. Levit is a big MET-C guy, but even still. I have often times thought that maybe the differential responses to stress, and indeed, the stressful nature of being significantly impaired by autistic behaviors could be contributing to GI distress in some children. Of course, this could cause other problems.

Those are my off of the cuff thoughts. If I get a copy of this bad boy and get a chance, I may try to post something more thorough.

Thanks!

– pD

http://www.google.com/hostednews/ukpress/article/ALeqM5igFgn1M5KJubYQjS17G-bCGFZ9WQ?docId=N0955371331115415403A

An eminent doctor has won his High Court battle against being struck off over the MMR jab controversy.

Professor John Walker-Smith appealed against the General Medical Council’s (GMC) determination that he was guilty of serious professional misconduct.

His fight for his reputation was supported by the parents of many children with autism and bowel disease seen by him at the Royal Free Hospital, north London, up to his retirement in 2001.

Mr Justice Mitting, sitting at London’s High Court, ruled the GMC decision “cannot stand”.

He quashed the finding of professional misconduct and the striking-off.

Calling for changes in the way GMC fitness to practise panel hearings are conducted in the future, the judge said of the flawed handling of Prof Walker-Smith’s case: “It would be a misfortune if this were to happen again.”

Prof Walker-Smith left court with members of his family, saying: “I am extremely pleased with the outcome of my appeal.

“There has been a great burden on me and my family since the allegations were first made in 2004 and throughout the hearing that ran from 2007 to 2010. I am relieved that this matter is now over.”

Thanking his friends and supporters, including his own family and many parents and former patients, he added: “I will never forget all the support I have received and I am truly grateful for it. I hope now to enjoy my retirement with my family.”

In a written ruling, the judge made it clear the judgment was the end of the case, and the GMC did not intend to appeal.

—————————————–

Hopefully this will bring attention to the GI issues / Immunity issues surrounding ASD children.

Just as there are many types of autism,there are also no doubt many types of GI disease in autism.If you read my posts over at RI,and LBRB,you know I am an adult on the spectrum,with both a severe NVLD,and a LOT of medical issues.I have possibly two types of GI disease,one is definitely refractory,or non responsive,celiac.I don’t know if this was caught too late,or is just a nonresponsive phenotype.It caused me to have rickets most of my life,and for me to have secondary Methylmalonic Acidemia and Homocystinemia,from folate and B12 malabsorption.I have teenage onset pernicious anemia,and other autoimmune disease,like juvenile arthritis.

I head banged and eloped all of my life,both were triggered by electrical seizures deep inside my brain.The eloping with temporary dementia.I started on folinic acid two years ago,and it stopped both cold.I recently learned about a condition in autism,called autoimmunity of the folate receptors.It is fairly new,and is probably what I have.There seem to be both part metabolic-part autoimmune forms
http://www.nature.com/mp/journal/vaop/ncurrent/pdf/mp2011175a.pdf

And purely autoimmune forms
http://www.danrossignolmd.com/uploads/7/0/7/2/7072522/rossignol_autism_folate_receptor_autoimmunity_autism_one_2011.pdf

Which is probably what I have.I am now close to a diagnosis.Note both have GI disease,also note the GFCF diets in the Nature article.

This may be something for you to consider for your son.

Oh yeah,I wasn’t fully out of diapers until I was nine years old.

Hi Roger Kulp –

I have seen your posts in a few of the standard places and we share some similar thoughts.

Regarding cerebral folate antibodies, my son has tested negative and does not appear to be a candidate for folinic acid supplementation.

The original folate antibody study, Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. has some pretty insane findings, completely invalidating the idea that a cure is impossible in some subset of children, The sister paper to this, which observed reductions in cerebral foltate antibodies following a milk free diet in the treatment group, and showed large increases in the challenge group, A milk-free diet down regulates folate receptor autoimmunity in cerebral folate deficiency syndrome

In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a milk-free diet in 12 children (nine males, three females; mean age 6y [SD 4y 11mo], range l–19y), decreased autoantibody titer significantly from 2.08pmol of FR blocked per ml of serum (SD 2.1; range 0.24–8.35) to 0.35pmol (SD 0.49; range 0–1.32; p=0.012) over 3 to 13 months, whereas FR autoantibody titer increased significantly to 6.53 (SD 6.08; range 0.54–14.07; p=0.013) in nine children who were reexposed to milk for 6 to 14 weeks. In 12 children on a normal diet (eight males, four females; mean age 5y 5mo [SD 4y 1mo], range 1y 6mo–16y 4mo), the antibody titer increased significantly from 0.84pmol of FR blocked per ml (SD 0.39; range 0.24–1.44) to 3.04pmol (SD 1.42; range 0.84–6.01; p=0.001) over 10 to 24 months.

You know, it is pretty funny that these studies can illustrate a biologically plausible mechanism of a CF diet substantially helping a subset of children. So much misplaced skepticism.

I do believe it is important to note that the seemingly high values of prevalence in the Rossignol study you posted is very likely an over estimate, the children in question were referred by DAN doctors, and were also in a position where their parents (edit) felt a lumbar puncture was an acceptable intervention. These children weren’t going to go on to become self diagnosing Aspies.

– pD

Hi pd,

I have a son that is 2 1/2 and is regressing into ASD symptoms including speech regression, repetitive behavior and strange fits, etc. Like you he is our first and we assumed his frequent less than solid stool was a normal baby/toddler thing. The more I read the less I feel this is true and would like to try the dietary strategies you utilized. I feel like I have to do something but the people I trust to take care of my son are trying to lead me into excepting the inevitability of his possible and likely condition. I refuse to except that! Can you please reference me to some dietary info regarding removing complex carbohydrates, GF/CF diets and toddler safe anti fungal supplements. The way I see it these attempts at gaining the same success you had are not going to hurt my son but not doing anything is going to kill me. Any advise you can give will greatly be appreciated.

Thank you,
-Desperate Father-

Hi Desperate Father –

I remember the desperate times vividly, and my thoughts are with you. If it is any consolation, we made it out the other end of desperation ally, so that means you probably can do.

Regarding ‘inevitability’, I don’t think that is a useful term. I don’t know if your child, or any child, can be ‘cured’ of autism, but I know some that have lost their diagnosis, and most others that have made tremendous strides developmentally. How much of this improvement is due to one therapy or the other, or just simple development, I cannot tell you with any certainty.

Regarding GF/CF diets, there isn’t a whole lot in the literature. The ‘gold standard’ studies, double blind and placebo controlled, are small, but generally found no group effects. There are several open / no placebo studies that seem to show some effect. My thoughts on dietary intervention are that it is a relatively simple intervention to attempt, and even easier to give up on if you don’t see anything. Here are some ideas:

1) Start a log of your child’s bowel movements. If you are like me, and your son has six slurry blasts a day, if might not be a problem to determine if you are having an effect, but it still would be nice to have documents.

2) DO NOT TELL ANY THERAPISTS/TEACHERS/RELATIVES YOU ARE TRYING A NEW INTERVENTION. This is a great asset, you suffer from an array of biases, you know you are doing something you think (hope) will help. If people that don’t know that you are trying something see a difference in your child, you can have more insight into the question of if your changes are making a difference or not.

3) SCD is a total bitch. Don’t try it straight off; GF is difficult enough.

4) Try a trial of GF. Remove gluten from your child’s diet for two or three weeks. Then, let him have a bunch of wheat, pizza, macaronie, bread, whatever. Blast away! See if you can tell a difference in behaviors, and/or bowel behavior. Again, blind anyone you can to this intervention and see if they notice also. If you don’t see anything, then maybe dietary interventions aren’t a good choice for your child.

4) As far as anti fungal agents, you will need a prescription. We get ours from a medical doctor who specialized in treating autism as a medical condition. There are diagnostics you can use that can verify the presence/absence of fungus in your child’s GI tract. You can ask your regular pediatrician for an antifungal; they may look at you like you are crazy. Unfortunately, there are no literature references showing a greater frequency of fungal infections per se in the autism population, the study like the carbohydrate study in this post show that disturbances to the microbiome is a real phenomena in autism. If bacterial populations are so highly skewed in GI+Autism, it does not seem unreasonable to believe that other things are out of balance. At the end of the day, an antifungal treatment should be relatively short term, you pediatrician may be willing to prescribe one for you as a trial. (?) Be careful though; when we started my son on antifungals he went insane with rage (pain?) for about three days, but when the ride was over, his self injurious behaviors rapidly disappeared.

Good luck! You can reach me at passionlessDrone at yahoo if you have other questions.

– pD

Thank you for your insight and support. I have read a lot about how micro flora can alter mental state and I can’t believe how unwilling (with a few exceptions) the scientific community is to studying these seemingly logical conclusions. I wish these so called smart people would acknowledge that even though there is not %100 explain ability that there is definitely consistent patterns in a lot of the theories regarding diet and mental health. You have brought me some comfort and support in the face of a heart breaking and overwhelming situation where I feared there was none.

We’re a group of volunteers and opening a new scheme in our community.
Your website offered us with valuable information to work on. You’ve done an impressive job
and our whole community will be thankful to you.

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