Wednesday, February 10, 2010

APA Does it again! New DSM pleases (almost) nobody

"As somebody who has a child with a diagnosis of autism, I want to be able to turn to the official criteria and see a description that sounds like my child," Grinker says. "Right now my child sounds like three or four different disorders."

Yup.That sounds about right.

By now everybody has seen what the Amercan Psychiatric Assocition has
proposed for the new diagnostic criteria for autism.The criteria is vague,so generalized,that almost anybody could get an "autism" diagnosis.Reading this page dosen't really tell you all that much.The APA page on how they reached this criteria,however is a much more interesting read.If you are willing to take the time,and go through this with an open mind,it makes a great deal of sense.It only furthers my belief that most of us have been very wrong for years about just what "autism" is,and the need for all of us to work towards getting what most people call "autism" officially reclassified as several different disorders.

Some have claimed that intellectual disability is not among the considerations.Now I am no expert on intellectual disability,but one of the first things that stuck out at me was this:

In her introduction to the panel, Amy Wetherby, Ph.D., (Tallahassee,
Florida) noted that currently the core symptoms of autism are divided into three
domains: impairment in social interaction (e.g., impairment in the use of
nonverbal behavior; lack of spontaneous sharing; lack of social/emotional
reciprocity; failure to develop peer relationships), impairment in communication
(e.g., delay in or lack of development of spoken language and gestures; impairment in the ability to initiate or maintain conversation; repetitive and idiosyncratic use of language; lack of pretend play), and repetitive behaviors and fixated interests (e.g., preoccupation with restricted patterns of interest;inflexible adherence to routines; repetitive movements; preoccupation with parts of objects).

So language delay,and being nonverbal was discussed.One could possibly extend this to include generalized intellectual disability? Let's see what else we have here.

One of the next things I found was:

John Constantino, M.D., (St. Louis, MO), in his presentation,noted that,1) autism represents the severe end of a continuum of inherited social deficiencies that occur in nature and it is arbitrary where to draw the line between affected and normal states.; 2) there are no data that support Asperger’s disorder breeding true...

There goes one of the more beloved claims neurodiversity loves to tout.So much for that "natural variation".

In his introduction to the panel, Edwin H. Cook, Jr., M.D.,(Chicago, IL) noted that restricted and repetitive behaviors are currently de-emphasized relative to social impairment. Why should a child with mild social and communicative impairment whose main impairment is disabling restrictive and repetitive behaviors be considered to have less likelihood of autistic disorder? Is our lack of emphasis on severity of this area justified by the data or is it based on our “preoccupation” with social and communication function?

I agree.Far too much importance is placed on the social impairments,even moreso than on spoken language ability.

I was a little surprsed that Susan Swedo was part of the planning group,given that PANDAS/PITAND is not mentioned anywhere.In fact,the only mention of it anywhere on the site,is to rule it out as a psychiatric illness.

Susan Swedo, M.D., (Bethesda, MD), in her presentation, noted how little data
has been reported regarding the difference between fixated interests in autism
and obsessive-compulsive symptoms in obsessive-compulsive disorder (OCD),noting that there may be a clear difference between childhood onset obsessions and
adult-onset obsessions. Differences in treatment response, patterns of
comorbidity and neuroimaging findings suggest that in adults, obsessions seem to
fit best with anxiety disorders and in children are more closely linked to
attention deficit hyperactivity disorder and tic disorders.

I'd agree with that,as long as you make that "seizure or tic disorders".Yet another "comormidity"? Looking around the DSM-V for OCDs,and related conditions,we come to the section on Stereotypic Movement Disorder.Here we have a whole complex of symptoms,that I have had for most of my life.Ones many have associated with "autism",myself included:

Stereotypic Movement Disorder
Sub Title
Stereotypic Movement Disorder
The work group is recommending
that this disorder be classified under Anxiety and Obsessive-Compulsive Spectrum
Disorders or Childhood Disorders, if that section is retained

Repetitive, seemingly driven, and apparently purposeless motor behavior (e.g.,
hand shaking or waving,body rocking, head banging,self biting).
B. The disturbance causes clinically significant distress or impairment in social,
occupational, or other important areas of functioning.
C. The motor behavior is not due to the direct physiological effects of a substance or a general medical condition.
D. The motor behavior is not restricted to the symptoms of another mental disorder (e.g., compulsions in Obsessive-Compulsive Disorder, tics in Tic Disorder, stereotypies in Pervasive Developmental Disorder, hair pulling in Hair Pulling Disorder(Trichotillomania)).
Specify if:
With Self-Injurious Behavior: If the behavior results in bodily damage (or would result in bodily damage if protective measures were not used.

Sounds a helluva a lot like what a lot of us think of as "autistic " behaviour doesn't it? but if you look at the bottom of the page,and look at the conditions associated with this,nowhere is autism listed. Instead what you get is

Anxiety, Obsessive-Compulsive Spectrum, Posttraumatic, and Dissociative Disorders
Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence

It sort of makes you wonder if this behaviour in "autism",might really be related to PANDAS,or PITAND,especially in those with immune problems since PANDAS causes OCDs

Regarding the difference between stereotypies in ASD and compulsions in OCD, the two symptoms are more similar than different in presentation. For example, when the repetitive behavior is interrupted,children respond negatively, regardless of whether the behavior is a compulsion or a stereotypy. Dr. Swedo noted three possible hypotheses regarding the relationship: that symptoms in autism and OCD are the same phenomena and result from similar etiologies; that they are the same behavioral abnormality, but represent different etiologies; or that symptoms in autism and OCD only appear to be similar but differ in nature and etiopathogenesis. Comparing ASD and obsessive-compulsive personality disorder (OCPD), similarities between them include rigidity, need for sameness, and individuals being “cold” and socially isolated; differences include age at onset (earlier in ASD), degree of
impairment (greater in ASD), and presence of comorbid symptoms (more in

Then we come to one of the statements that really got to me.

Keith Widaman, Ph.D., (Davis, CA),in his presentation, looked at lifespan changes from the perspective of mental retardation. Cross-sectional studies of intelligence have shown that there are substantial improvements in many areas until the developmental period ends around age 20;after that point, stability is more likely.

Dead wrong.Clearly Dr.Widaman has never seen an adult who has had autism as a child, improved,and then regressed again,after a severe infection,or diet change.Metabolic or immune based "autism" is anything but stable.But there I am thinking like a patient or a parent again, and not like a doctor or researcher.Maybe these conditions are not really "autism" after all.

For mental retardation, which is considered a developmental disorder,the diagnosis is supposed to be made in the first 18 years of life. Does it therefore make sense to make a diagnosis of ASD and intellectual disabilities in someone presenting at age 50?

Again,entirely different model.

Regression is currently only included in the diagnostic criteria in Childhood Disintegrative Disorder (CDD),where it is required.Clinically it is commonly seen in Rett Syndrome but not included in the criteria, and is not even mentioned in Autistic Disorder, Asperger’s Disorder,or PDD-NOS, although it is known to occur fairly frequently.

The paucity of reports is confirmation that CDD is a rare condition, with prevalence thought to be 1.1 to 6.4 per 100,000.

Maybe that's because it's been misdiagnosed as "autism".Or is it just another "comorbity"? Who knows?

2) deleting motor skills regression from the areas of regression in criterion B because of scarcity; and 3) in criterion D, having the diagnosis of CDD pre-empt a diagnosis of autistic disorder so that CDD with onset before age 3 is not diagnosed as autistic disorder (one-third to one-half of CDD patients show their regression between ages 2 and 3). Compared with autistic disorder, CDD has no significant difference in clinical symptomatology apart from its higher incidences of epilepsy and EEG abnormalities.

During the ensuing discussion, it was pointed out that regression may be a more common feature of autism than was previously thought with some prospective studies indicating that a loss of skills is the rule rather than the exception. In regressive autism, the skills are lost in the second year of life, while in “early onset” autism, skills are lost in the first year of life. There was general agreement that symptom onset is on a continuum between regression and non-regression and that defining the borders between the two can be difficult.

Anybody else find these statements contradict each other? Dontcha love that "more common feature than previously thought"?

Asperger’s disorder is essentially defined as meeting criteria for
autism without the language impairment. Lorna Wing introduced the term in
1981 to aid recognition of the part of the autism spectrum with good IQ and
language. It has increased awareness and recognition and helped to clarify
the core deficits of ASD, but also increases the possibility that there may be
over-diagnosis of ASD. Asperger’s disorder has also had an impact on family
studies of autism with regard to what we recognize as “caseness.” Dr. Happe
noted that the current criteria do not work: they do not allow for developmental
change, the early language criteria do not demarcate groups with different
prognoses, it is hard to apply the diagnosis for adult cases, and there is no
clear conceptual basis for the diagnosis. Dr. Happe concluded that although
there is a recognizable Asperger’s type and that some cases of classic autism
grow into this picture, she wonders whether there may be a better classification
schema. Sally Ozonoff, Ph.D., (Sacramento, CA), in her presentation, compared
high functioning autism (HFA) with Asperger’s, and noted that there were few
differences in their definitional DSM-IV criteria
; both require two social
symptoms and one repetitive/stereotyped symptom
, both are in the average range intellectually and have current fluent language. The main criterion distinguishing the two disorders is the requirement in Asperger’s that onset of language occurs at the expected time, e.g., single words by age 2. Dr.
Ozonoff noted that it is difficult to evaluate the literature since definitions vary across studies and that many children who are thought clinically to have
Asperger’s actually meet criteria for autism
(which supercedes a diagnosis of Asperger's). There is some evidence to suggest that Asperger's and HFA do not represent distinct disorders: they co-occur in the same families and do not “breed true” (i.e., family members of patients with Asperger's have HFA and
family members of patients with HFA have Asperger's); children with autism who
develop language have similar outcome to Asperger's; HFA and Asperger's are
indistinguishable by school-age; and although studies find better language
skills and/or verbal IQ in Asperger's, multiple studies have found no group
differences in other neuropsychological domains.

This is a fairly accurate description,but there are a couple of big factors they left out here.

  • How many Aspies do you hear about who have stereotypic or stimming problems as bad as autisic children do.I know I did until I treated my autism biomedically.

  • .

  • The brain differences between Asperger's and autism,clearly visible on MRIs.

    .The fact that there are families,like mine,where one sibling has autism,and another sibling has childhood-onset bipolar disorder or schizophrenia.This may be due to each sibling having a slightly different set of COMT mutations .

Chance mutations in the human genome, once incorporated into the gene pool, can have functional consequences for human populations when expressed through their specific protein alterations. Complex genetic diseases like schizophrenia and primary mood disorders are associated with clusters of these chance mutation changes and their associated protein abnormalities in the brain. Catechol O-methyltransferase (COMT) is an enzyme that metabolizes dopamine in the brain in the extracellular space (homovanillic acid [HVA] is the intracellular catabolic enzyme). COMT activity in the human striatum is not critical to dopaminergic signaling, since dopamine reuptake proteins largely terminate dopamine action in that region. However, COMT activity in the frontal cortex is important because dopamine reuptake proteins are sparse, and COMT functions there to terminate dopamine action in the synapse. Because dopamine in the frontal cortex facilitates short-term memory, high COMT activity should inhibit this aspect of cognitive function. The gene for COMT is located on chromosome 22.

COMT mutations are found in all three conditions,and it raises a few questions.
  • Do they play a role in the male predominance for autism,as they do in ADHD?Is it a cause for the son having autism,and the daughters having childhood onset bipolar or schizophrenia,as it is in our family?

  • Has anybody come close to figuring out if there are specific COMT mutations unique to autism,bipolar,or whatever?

See there are much more intersting questions out there than vaccines.

My problem is that so many adults with no developmental history worthy of an ASD have been wrongly diagnosed with them.If Asperger's is to mean true autism,but without the language delay,this should call into question the not only diagnoses of many who have been diagnosed with an Asperger's, but the numbers,and the epidemiology that has led to this idea of an "autism epidemic" in the first place.

The seventh panel addressed the question of how does comorbidity affects
symptoms of Autism?In her introduction to the panel, Sally Rogers, Ph.D.,
(Sacramento, CA) noted that other developmental disorders occur commonly with
autism (e.g., up to 86% also have non-verbal learning disorders) as well as
other psychiatric disorders (e.g., 20-30% with affective disorders, 33-75% with
ADHD), and various medical conditions (10-37%, with the rate depending on the
severity of the degree of intellectual disability. Dr. Rogers argued that one
way to address this comorbidity is to adopt a dimensional approach which could
address sociability and social capacities, communication, intellect,activity
level,motor skills and movement,mood and temperament, academic abilities,
adaptive behavior, maladaptive behavior/psychiatric symptoms, and health. Autism
could be viewed in the same way as we do intellectual disabilities (i.e., IQ) --
as a final common behavioral pathway of many different biological etiologies:
“the autisms,” as opposed to our current view of autism as primarily a familial
genetically-determined disorder with comorbidities occurring more frequently in
the more severe cases


Here again,the whole notion of "comorbidity" seems to center around neurodevelopmental ones.Nothing specifically about GI disease,metabolic or immune problems.And just what do they mean by "various medical conditions" anyway?If the Yahoo! groups I belong to,and various blogs I read,not just Age of Autism,are any indication,the numbers of those with these conditions are a lot higher than 10-37%.

Wandering or eloping has been a big issue for me,and it is for many with "autism".But if you do a search within the DSM-V,it only comes up in relation to dementia and neurocognitive disorders .Like intellectual disability,this may be an entirely unrelated condition,and one that is even further off the radar,as far as research funding is concerned.Eloping and wandering was a major issue with me,and only went away with biomedical intervention.I may be way off base here,but I wonder if eloping isn't some sort of immune-based problem,similar to what you see with dementia in HIV ?

One real bright spot here is the way some aspies are reacting to the changes.A lot of us are sitting back and laughing ourselves silly at their reaction to it all. Serves them right.

But the change is going to be hard for some people with Asperger's, says
Michael John Carley, executive director of the Global and Regional Asperger
Syndrome Partnership in New York and author of Asperger's From the Inside Out.
"I personally am probably going to have a very hard time calling myself
autistic". says Carley, who was diagnosed with Asperger's years ago.

Many people with Asperger's take pride in a diagnosis that probably describes some
major historical figures, including Albert Einstein and Thomas Edison, Carley
says. Under the new system, those people would represent just one extreme of a
spectrum. On the other extreme is "somebody who might have to wear adult diapers and maybe a head-restraining device. This is very hard for us to swallow," he says.

Returning to the summary page of the new name we have

New name for category, autism spectrum disorder, which includes autistic disorder (autism), Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified.

Differentiation of autism spectrum disorder from typical development and other "nonspectrum" disorders is done reliably and with validity; while distinctions among disorders have been found to be inconsistent over time, variable across sites and often associated with severity, language level or intelligence rather than features of the disorder.
Because autism is defined by a common set of behaviors, it is best represented as a single diagnostic category that is adapted to the individual’s clinical presentation by inclusion of clinical specifiers (e.g., severity, verbal abilities and others) and associated features (e.g., known genetic disorders, epilepsy, intellectual disability and others.)
A single spectrum disorder is a better reflection of the state of knowledge about pathology and clinical presentation; previously, the criteria were equivalent to trying to “cleave meatloaf at the joints”.

Which sort of gets back to what I was saying in my first post about everything being comorbid. Maybe we ought to stop thinking about autism itself as that big a deal,and concern ourselves more with finding the causes for these "associated features",that may be the bigger problems.If neurodiversity has to readjust,maybe everybody else has to as well.I am going through a very interesting personal journey.I am finding out that I may not have "autism" after all,but rather a sort of polymorphic metabolic syndrome,with that old devil "features of autism",and it's very possible that many children we say have "autism" really have the same thing.Especially if they have GI disease,and improve with MB12.

A hallmark of megaloblastic anemia is ineffective erythropoiesis, as evidenced
by erythroid hyperplasia in the bone marrow, a decreased peripheral reticulocyte
count,and an elevation in lactate dehydrogenase (LDH) and indirect bilirubin
levels.The pathogenesis of these findings is the intramedullary destruction of
fragile and abnormal megaloblastic erythroid precursors.

An understanding of the source of cobalamin and folate is important to understand the pathogenesis of the development of megaloblastosis. Dietary intake is the source of cobalamin and folate because humans cannot synthesize these substances. Cobalamin must be bound to intrinsic factor (IF), and this complex is taken up in the terminal ileum. Once absorbed, cobalamin is bound to another protein, transcobalamin II (TCII), and is transported to storage sites. Abnormalities in any of these steps in cobalamin transport can lead to deficiencies in this substance. Considerable amounts of cobalamin are accumulated in storage sites; this explains why years elapse before cobalamin deficiency develops in patients who cannot take up dietary cobalamin.

The move to relassify Rett's disorder as a nonpsychiatric disorder is the sort of move that I would like to see here.In the words of Michelle Dawson "Genetic syndromes don't belong in our book,and I agree".But in order to get this "genetic syndrome" out of the DSM,parents are going to have to put aside their preconceived notions about vaccines,and ill-defined "dysfunctions" that they may or may not cause,and have their kids tested,for things like megaloblastic anemia,and folate metabolism disorders.If they did,we might end up a clear picture of a genuine metabolic syndrome by the time the DSM-VI comes out.

Tuesday, February 2, 2010

Some thoughts on Arthur Krigsman's newst study.

I finally got to reading Dr.Arthur Krigsman's article published last week,"Clinical Presentation and Histologic Findings at Ileocolonoscopy in Children with Autistic Spectrum Disorder and Chronic Gastrointestinal Symptoms",and right away,there were a copule of things,I was ready to applaud.First,the fact he had included at least one patient in the study,who was as old as 36 years old.Secondly the realization,that changing the diet has no effect at all on severity of GI pain,something that I have been trying to tell people for years,and that neither parents or doctors seem to get.

Abdominal pain was easily determined in patients able to articulate
discomfort.In non-verbal patients,abdominal pain was indicated by
frequent,unexplained excessive irritability, awakening from sleep in a state of
unusual irritability or agitation, and uncharacteristic aggression.1 “Pain
posturing”,in which the child assumes a leaning position, providing direct
pressure to the lower abdomen, is a clinically accepted pain indication in this
population and parents were specifically asked about this.While initial patient
evaluation included a dietary history to explore the possibility of food allergy,this was not a common finding. However, in virtually every case, foods causing non-IgE mediated GI symptoms were avoided for 6-months prior to endoscopic examination.

In all cases, dietary interventions/restrictions did not significantly improve gastrointestinal symptomatology and initial laboratory evaluation did not provide an etiologic diagnosis.

I was more than a little ticked off.Krigsman,et al admitted that there was serious pain going on here,but they seemed to offer nothing as far as treatment or management of this pain was concerned.GI pain was something I brought up,the last time I saw my DAN! doctor.His only suggestion was that I try to get medical marijuana,which I am seriously looking into,but I neither have the money for it,nor meet the State of New Mexico's official criteria for it.Like so many with autism,my blood tests have never quite made it for a Crohn's diagnosis.

I then saw that they had used ileocolonoscopy to examine the patients, something no doctor was ever willing to do for me.

Of the 83 patients presenting with diarrhea without constipation, data on
ileal and colonic inflammation was available for 74. Of these, 59 (79.7%) had
inflammation in either the ileum, the colon or both locations. An additional 6
patients who presented with diarrhea but for whom ileal intubation was not
successful, had colonic inflammation, while 3 did not.For patients presenting
with diarrhea therefore,the estimate of prevalence of inflammation is between
65/83 and 68/83 (78.3%–81.9%). Data on ileal and colonic inflammation was
available on 19 patients presenting with constipation without associated
diarrhea.Of these, 12 (63.2%) had ileal or colonic inflammation.3 patients for
whom ileal intubation was not successful presented with diarrhea. All 3 had
colonic inflammation. This allows a more definitive estimate of overall
prevalence of inflammation in this group.Of the 22 patients presenting with
constipation alone,15 (68.1%) had ileal or colonic inflammation.


It then talks about ileo-colonic lymphoid-nodular hypoplasia,something I was found to have years ago,but nobody seemed to think was all that important.

My problem with this,is most of the literature on this,seems to come from Andrew Wakefield, and nobody else seems to want to study it much.

So the conclusion he comes to is this:

This study confirms earlier reports of a non-specific (non-Crohn’s disease, non-ulcerative colitis) mucosal histopathology in ASD patients with chronic gastrointestinal symptoms....It appears that the immunologic and inflammatory
activity in the bowel is part of a larger, systemic multi-organ immunopathology.
...While ileocolonic LNH has long been thought of as a ‘normal’ pediatric
variant commonly encountered in developmentally normal children undergoing
ileocolonoscopy, it is also a prominent component of the inflammatory response
in gastrointestinal infectious processes such as H. pylori gastritis,
Shigellosis,C. difficile colitis, and yersiniosis, among others.

The origin of the ileocolonic pathology is unknown.The pattern of inflammation may represent autoimmune disease,chronic infectious enterocolitis, food sensitivity/ allergy, or a combination of the above.Because virtually all patients were on some form of a symptom based restricted diet, the impact of specific dietary factors on symptoms and histopathology could not be evaluated in this study.

In short,we have no idea what the f**k is going on,and no way to treat it.

Well,the two things that stuck out in my mind were all the attention paid to the ileum,and this business about a "a larger, systemic multi-organ immunopathology".I may be all wet on this,but I have an interesting theory.What if the GI disease is all secondary to a genetic methylation disorder,or something related to MB12 deficiency,or metabolism? MB12 is metabolised in the ileum after all.The article did not mention if any of the people in the study were tested for megaloblastic anemia or folate metabolism disorders or not,but I wonder if this could not be the cause.

Megaloblastosis is a generalized disorder because nonhematopoietic cells, such as GASTROINTESTINAL and uterine cervical mucosal cells, can also have megaloblastic features. The etiology of megaloblastic anemias is diverse, but a common basis is impaired DNA synthesis. The most common causes of megaloblastosis are cobalamin (vitamin B-12) and folate deficiencies. The usual causes of cobalamin deficiency are pernicious anemia (PA, see Pernicious Anemia), failure of absorption of cobalamin in the terminal ileum...

I also wonder if the underlying GI,and immune issues so many of us with autism,and MTHFR problems have may be due to an unknown "new" condition originating in the

All this requires is an ability to look beyond vaccines as the possible cause for all this crap,yes crap.Open your minds,and you open yourself to all sorts of possibilties.

Has Krigsman,though,that is the question.While he is to be commended for not mentioning vaccines or MMR once,his past precedes him.I am no fan of case/autism/quackwatch,any more than I am of David Gorski,but his name on the study does raise all sorts problems.Especially for more mainstream doctors who want to take this stuff seriously.I would assume he still believes all this about vaccines,and thimerosol,since he has made no public statement otherwise.

Everybody at Thoughtful House seems to have a dark cloud over them, even though they are clearly doing some very important work.Perhaps they ought to let somebody else do some of this work for a while,someone who isn't tainted by all this vaccine stuff,and can look at things more objectively,and investigate other causes for these conditions.

Don't forget,I've lived with the GI disease of autism myself for almost fifty years.As a child/teenager, I had to go to the ER fo severe impaction more than once.The food reactions of head banging, severe stimming,and rages,with the acute malabsorption that follows it is something I know personally all too well.I've been through it all.Nobody wants to find an answer more than I do,but perhaps by allowing those who believe vaccines are the cause for it all,to do most of the research,we will never get to the real answers after all.