No Autism. Today, Conor's Grand Mal Seizure Scared The Hell Out Of Me

The Joy of Conor

Every day with my buddy Conor is a joy because of who he is. Every day with Conor requires extra concern and attention to his well being because of the autism disorder that restricts his life and presents serious challenges to his ability to participate in it like others of his age.  Today though autism was the least of Conor's, or my, worries.  Today, shortly before 11 am I was upstairs and heard Conor downstairs making various noises ... as he often does.  But there was something different about the sounds I heard.  When Conor makes noises they may sound unusual at times but he is clearly making them, he is in control.  What I heard today was different.  Conor was making noises but they were not his usual kinds of utterances, he was not in control.  I went downstairs to see what was happening. 

When I saw Conor he was lying on his side on the living room floor.  His body was shaking violently back and forth. He did not appear conscious and he was not responsive to any attempt to elicit a response. Thick green and yellow fluid  had oozed out the side of his mouth. I tried to lift him and it was like trying to lift a pile of 190-195 pound bricks, there was no response. For a brief instant my mind flashed with the possibility that this might not end well.  I called 911 and the terrific  Emergency Measures Response team were soon at our door. With them  to offer direction, and with Conor's big brother providing help, I sat Conor up and then changed him. We were soon on the way to the Dr. Everett Chalmers Hospital where the wonderful staff of the DECH hospital took great care of our Conor with me and Mom beside him. Right now Conor is sleeping on one of our living room couches, with lots of blankets and comfy pillows. Mom is spending the night on the other couch. 

Autism is not responsible for today's emergency. We don't know for sure if epilepsy or some other condition was involved. What we do know beyond any doubt is that Conor suffered a grand mal seizure as defined by the Mayo Clinic:

Grand mal seizure 

 Definition By Mayo Clinic staff

A grand mal seizure — also known as a tonic-clonic seizure — features a loss of consciousness and violent muscle contractions. It's the type of seizure most people picture when they think about seizures in general. Grand mal seizure is caused by abnormal electrical activity throughout the brain. In some cases, this type of seizure is triggered by other health problems, such as extremely low blood sugar or a stroke. However, most of the time grand mal seizure is caused by epilepsy. Many people who have a grand mal seizure will never have another one. However, some people need daily anti-seizure medications to control grand mal seizure.

Hopefully the connections between various disorders ... or groups of symptoms ... known as autism, intellectual disability and epilepsy .... will be studied thoroughly and more time will not be wasted by academics spending years trying to find the perfect, stream lined definitions of disorders which are heterogenous, varied, complex and dangerous to those who suffer from them.  

For today I am thankful that my Conor is sleeping safe and sound in our living room.  Today I say thank you to the wonderful emergency measures response personnel and the staff of the Dr. Everett Chalmer Hospital emergency trauma ward.  Thank you very much.

Autism Is An Epidemic: Time To Stop Pretending Otherwise

Autism Speaks, commenting on and citing an article  from the Boston Globe,  reports that American Academy of Pediatrics President Elect James Perrin, M.D., F.A.A.P., has called autism an epidemic:

"James Perrin, M.D., F.A.A.P., president-elect of the American Academy of Pediatrics (AAP), called autism and other developmental disorders one of the major epidemics facing U.S. children. Dr. Perrin, a professor of pediatrics at Harvard Medical School, directs the Clinical Coordinating Center of Autism Speaks Autism Treatment Network (ATN). 

He also leads the Autism Intervention Research Network on Physical Health (AIR-P), a federally funded program built on the ATN. “Childhood obesity and other chronic health conditions: The continuing growth in childhood asthma and the tremendous growth in mental health conditions and developmental conditions like autism. We’ve got three or four major epidemics really growing among children and adolescents in America,” Dr. Perrin told the Boston Globe in a special interview."

I applaud Dr. Perrin for having the common sense, the good conscience  and the courage to speak the obvious truth.  Since my son's autistic disorder diagnosis 14 years ago at age 2 the CDC estimated prevalence of autism has moved from 1 in 250 to 1 in 88.  The 1994 DSM changes/increased awareness excuses which undoubtedly explain PART of the increases are trotted out with each change in the estimates as being FULLY  explanatory of the increases, without any convincing evidence in support of their statements of belief.   Many of us who raise, love and care for the children who are part of this epidemic are not drinking the kool-aid of the epidemic deniers.  Dr. Perrin will probably be vilified by "experts", including some with Neurodiversity ideological perspectives, who routinely mock those who dare state the obvious.  There is an autism epidemic.  Autism is rising. Thank you for speaking up Dr. Perrin.

Autism is an epidemic. It is time we all faced that reality. 

Lia Marinoiu On Life With Simon; Her Brother With Severe Autism Disorder

"Lia Marinoiu lives in the Toronto area. She is an extremely mature and articulate 19 year old sister of her untreated, severely autistic younger brother. She describes the impact on every facet of her life, currently and in the future, of growing up with an untreated sibling. She offers straight talk about the failures of our politicians and why Canadians not directly affected should care about this issue."

 Medicare for Autism Now: Medicare's Orphans, Episode 9, Lia Marinoiu

DSM5 Autism Exclusion of ID? Study Finds Single Gene Mutation Known To Cause Intellectual Disability Increases Risk of Autism Disorders

If you believe the DSM5 Neurodevelopmental committee responsible for expressly removing those with Intellectual Disability from the new, oversimplified Autism Spectrum Disorder when they claim that exclusion is based on current science you may want to reconsider. The DSM5 ASD excludes those with intellectual disability if the ID "accounts for" the mandatory social communication deficits of the DSM5 ASD. Even if a child has ALL the mandatory deficits in A,B, C and D it doesn't count, they are still excluded,  if the category A, social communication deficits can be "accounted for by general developmental delays".   This intentional culling of the autism spectrum disorder is purportedly based on current research a claim which I have always found to be extremely dubious with respect to the exclusion of intellectually disabled.  A new study further confirms the lack of scientific basis for the exclusion of those with severe ID from the new ASD.

The very high co-morbidity of autism and intellectual disability has been known for many years and the most recent CDC estimates had placed the figure at between 41 and 44% of all persons with pervasive developmental disorders (now commonly referred to as autism disorders). The figure for autistic disorder itself had been estimated as high as 70% of persons with Autistic Disorder and ID.  CDC autism expert Dr. Marshalyn Yeargin-Allsopp had referred to those with intellectual disability as representing the "vast majority" of those with  classic Autistic Disorder.

In Autism and intellectual disability: a study of prevalence on a sample of the Italian population, La Malfa G, Lassi S, Bertelli M, Salvini R, Placidi GF, the authors reported that their study confirmed the relationship between ID and autism and suggested a new approach in the study of ID in order to elaborate a new integrated model for people with ID and autism.  Despite the relationship between ID and autism the new DSM5 ASD will exclude those most severely affected by ID and autism.  The oversimplified DSM5 ASD has clearly rejected the call by La Malfa and colleagues for a new integrated approach preferring to artificially cleave ID off from ASD. 

Now a new study by the The Scripps Research Institute (TSRI) published in CELL, November 9, 2012,  appears to completely rip the foundation out from under the DSM5 attempt to disassociate intellectual disability and autism. It does so by showing how a single gene already known to cause intellectual disability also increases the risk of developing autism.  Given the known high co-morbidity and this reported genetic connection it is difficult to see how the DSM5 team can continue to justify its express, targeted exclusion of intellectually disabled from the new ASD but I am sure they will try.

e! Science News provides an overview of the study and interviews lead TSRI researcher Gavin Rumbaugh, PhD:

Scientists uncover secrets of how intellect and behavior emerge during childhood

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a single protein plays an oversized role in intellectual and behavioral development. The scientists found that mutations in a single gene, which is known to cause intellectual disability and increase the risk of developing autism spectrum disorder, severely disrupts the organization of developing brain circuits during early childhood. This study helps explain how genetic mutations can cause profound cognitive and behavioral problems. The study was published in the Nov. 9, 2012, issue of the journal Cell.

 The genetic mutations that cause developmental disorders, such as intellectual disability and autism spectrum disorder, commonly affect synapses, the junctions between two nerve cells that are part of the brain's complex electro-chemical signaling system. A substantial percentage of children with severe intellectual and behavioral impairments are believed to harbor single mutations in critical neurodevelopmental genes. Until this study, however, it was unclear precisely how pathogenic genetic mutations and synapse function were related to the failure to develop normal intellect.

 "In this study, we did something no one else had done before," said Gavin Rumbaugh, a TSRI associate professor who led the new research. "Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder."

The DSM5 committee members who have crafted this non evidence based new ASD will not be influenced by this recent study.  I saw Dr. Susan Swedo speak twice at Toronto IMFAR 2012.  She appeared more personally offended by criticism than interested in seriously addressing the merits of such criticism.  The several studies pointing out exclusions at both the HF and LF ends of the autism spectrum under the DSM5 regime are simply dismissed on the basis that they are using old data, that is information used in diagnosing persons currently assessed with autism under the DSM-IV.  The DSM5 team responded with a "mine's bigger than your's" study which was led by DSM5 team member Catherine Lord who had previously confessed to the NYT Amy Harmon that the objective of the new ASD was to target intellectually disabled for exclusion. Real objective stuff?

The DSM5 team has dug in its heels on the New ASD. It has been recoiling from criticism of possible exclusion of persons at the very high end of the autism spectrum.  As always both the media and autism researchers (with the exception of John Matson) simply disregard both the DSM5 ASD language expressly targeting for exclusion the intellectually disabled and Dr. Lord's express confession that the exclusion is intentional. The DSM5 team paid no apparent attention to the La Malfa study or to the authors' conclusion recommending a new approach in the study of ID in order to elaborate a new integrated model for people with ID. The odds of the DSM5 team taking the TSRI study any more seriously are slim to none. 

Autism 2013: Insel's Autisms or the Oversimplified DSM5 Autism Spectrum Disorder?

"If you’ve met one person with autism – you’ve met one person with autism." Stephen Shore 

The succinct and famous quote by Stephen Shore about the variation and complexity of autism disorders is cited often and just as often ignored. In fact it is ignored completely by the DSM5 which has merged high functioning autism and Asperger's into the streamlined New Autism Spectrum Disorder while ignoring the varied and complex realities, the heterogeneity of autism disorders.  As the parent of a severely autistic son with profound development delays, as an autism advocate who has visited adults with severe autism symptoms living in psychiatric facilities,  I do not agree with or support the vanilla flavored, stream lined DSM5 "autism". It does not reflect reality, it does not reflect the complex heterogeneity of autism disorders.

As a humble autism parent advocate  I am well aware that my opinions are worth   little to the DSM5 intelligentsia or to autism researchers generally. Most autism researchers tend to be courteous but dismissive, even condescending, in responding to my concerns about the express exclusion of the intellectually disabled under the DSM5 autism definition. That exclusion will make life easier for them as researchers but do nothing to help those who display all the symptoms of autism disorders but will be excluded because they are also intellectually disabled.

Autism researchers employing fMRI's that are widely featured and profiled in current autism research will be able to continue their misleading and unethical practices of excluding the most severely challenged autism participants while pretending their findings apply across the entire "autism spectrum".  Researchers will be able to continue their exclusionary practices because their needs are being accommodated by the DSM5 team which redefines autism to exclude those persons who are too difficult to study; who simply can not be counted on to sit still underneath a machine or to answer a questionnaire.

There are, however, voices that are more difficult to ignore; be they critics generally of the DSM5 or those who specifically critique the new autism definition.  Frances, Volkmar, Ritvo, Matson are but a very small selection of the credible autism and mental health researchers who have questioned the DSM5's  new and oversimplified Autism Spectrum Disorder.  In previous commentaries I have mentioned Lynn Waterhouse's writings on the complexity and variation of autism. Her vision of autism, as I understand it (while still working my way through her recent book on the subject) is inconsistent with the simplified autism of the DSM5.

Thomas R. Insel, M.D.. Director, National Institute of Mental Health (NIMH) and Chair of the IACC has not, to my knowledge, openly criticized the DSM5 generally or the DSM5 Autism Spectrum Disorder.  On his Director's Blog in the commentary Words Matter though he offers a picture of autism that reflects its complexity not the oversimplified, streamlined DSM5 version of autism:  

Words Matter

By Thomas Insel on October 02, 2012 

" ...  there are many barriers to progress, not all of them are scientific. Some involve policy, some involve poverty, and remarkably, some are simply linguistic. In mental health, we are stymied by our language. The most obvious linguistic problem can be found in our current diagnostic terms, what my predecessor Steve Hyman has called “fictive categories.” Terms like “depression” or “schizophrenia” or “autism” have achieved a reality that far outstrips their scientific value. Each refers to a cluster of symptoms, similar to “fever” or “headache.” But beyond symptoms that cluster together, there should be no presumption that these are singular disorders, each with a single cause and a common treatment. Recall that Bleuler, who first introduced the term schizophrenia over a century ago, referred to “the schizophrenias.” And with new genetic discoveries, scientists are beginning to describe “the autisms,” a group of neurodevelopmental disorders of diverse causes. 

.......  

"there is a more fundamental role for science, which is nothing less than the quest for understanding our world. The homeless man with schizophrenia, the non-verbal child with autism, and the soldier with PTSD need services and treatment, but also understanding—because the quest for understanding spawns compassion, intimacy, and even wonder."

Insel's autisms, a group of neurodevelopmental disorders with diverse causes, reflects the complex, varied, heterogeneity of autism symptoms and challenges. Lynn Waterhouse in  Rethinking Autism: Variation and Complexity has provided a similar perspective, an alternative to the DSM5's oversimplified and exclusionary Autism Spectrum Disorder.  

The APA will probably push through with the simple version of autism.  It will not advance the science involved in understanding autism.  It will not assist in finding causes, risk factors, treatment or cures for autism disorders.  It will not assist in  providing services that better fit the complex and varied challenges facing those who actually suffer from the daily limitations the autism disorders impose on their lives.

The DSM5 oversimplified  autism will probably be pushed upon us by Lord, Swedo and company. Hopefully though clinicians and researchers will not follow their lead and will instead consider the Waterhouse and Insel perspectives,  rethink the autism disorders, and embrace the varied and complex realities they present so that those who suffer from "the autisms" can be better helped to live happier,  more rewarding lives.

Autism Research Bias, Autism's Outcasts And The DSM5 Autism Do-Over: Shame on the APA

Four years ago, in Autism's Outcasts, I wrote about the exclusion from public consciousness,  and from autism research,  of those with autism and intellectual disabilities.  I am re-posting the research portion of Autism's Outcasts below. The comment overall talks about the media tendency, as demonstrated at that time by CBC and CNN, to exclude the harsher realities of severe autism, including those with associated with intellectual disability, from their generally feel good portrayals of autism disorders. At the time I was unaware that  the DSM5 autism "experts" would soon thereafter take steps to officially cast the intellectually disabled out of the Autism Spectrum Disorder by the express exclusionary language of the introductory paragraph of Mandatory Criterion A and that it would be based on the same autism research bias against the intellectually disabled that was known both to a humble autism dad like me and to DSM5 Neurodevelopmental Committe captain Dr. Catherine Lord who acknowledged that bias in  Social Policy Report, Autism Spectrum Disorders Diagnosis, Prevalence, and Services for Children and Families:

""However, research in ASD has tended to use overwhelmingly White, middle to upper middle class samples, and has often excluded children with multiple disabilities and/or severe to profound intellectual disabilities". [underlining added - HLD]

The express exclusion of the severe to profound intellectually disabled in the DSM5 Autism Spectrum Disorder is found in the introductory paragraph of Mandatory Criterion A:

"Autism Spectrum Disorder

Must meet criteria A, B, C, and D:

A.    Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:"

Even if a person exhibits all the persistent deficits of Mandatory Criterion A, B, C and D that person will not receive an autism diagnosis if the Criterion A deficits can be explained by "general developmental delays" or intellectual disability. Unlike those who will not receive an autism disorder diagnosis because they do not exhibit all the mandatory criteria for a DSM5 ASD diagnosis those with severe intellectual deficits who meet all of the criteria will still be excluded on the basis of the faulty, non evidence based logic that, even though an intellectually disabled may exhibit all the mandatory criteria for the new ASD, including the 3 deficits listed under category A, it doesn't matter because .... they are severely intellectually disabled.  

No explanation for the exclusion has been provided that makes any sense.  I have read the public comments by Dr. Catherine Lord, I have attended IMFAR and asked Dr. Susan Swedo directly about this exclusion and no sensible explanation for casting out the intellectually disabled from the autism spectrum has been provided.  

The DSM5 generally, and the DSM5 Autism Spectrum Disorder specifically, have been explained on the basis that the changes introduced reflect current research.  With respect to autism however that explanation is not satisfactory.  It is not satisfactory because those with severe autism deficits, particularly those with profound intellectual disability have been excluded, merely for reasons of convenience, from much autism research,  as set out in the 2008 Autism's Ouctasts comment that follows:

"Autism Research - Exclusion of Lower Functioning Autistic Subjects

In The face of Autism research as reflected in the IMFAR looking glass, Research in Autism Spectrum Disorders 2 (2008) 385–394, authors James M. Bebko, Jessica H. Schroeder, Jonathan A. Weiss, Kerry Wells, Kristen McFee and Gayle M. Goldstein reviewed the abstracts from a major autism conference (IMFAR) from 2004 to 2006. They found an increase in the proportion of studies with preschool or infant participants. There was also a decrease in studies using lower functioning samples, and an increase in studies using Mixed samples. The use of control groups generally decreased, and the use of cognitively impaired comparison groups remained low:

In terms of the functioning level of participants, research in autism has tended to focus in recent years on the higher functioning range of autism (HFA) or those with Asperger Syndrome (AS). According to a meta-analysis of cognitive and behavioral studies by Mottron (2004), over 75% of published studies on autism in 1999–2002 were comprised of participants with no identified cognitive delay. Such focus limits the generalizability of findings, as a large portion of individuals with autism and autism spectrum disorders have associated cognitive impairments,with estimates ranging from 40% to 70% of the population (Fombonne, 2005; LaMalfa, Lassi, Bertelli, Salvini & Placidi, 2004). Clearly a more balanced range of studies, with appropriate comparison groups is necessary.

....

Associated with this profile in the use of comparison groups in studies presented during this time period is an apparent decreasing representation of individuals with low or moderate intellectual impairments in the studies. One risk of such a trend is that our understanding of autism may become biased to the higher end of the functioning continuum. It is important that research continue to include individuals with cognitive impairments to ensure that our knowledge based on etiology, assessment, and intervention continues to expand across the entire range of expression of the disorder." [Bold highlighting added HLD]

The autism research bias in favor of the higher end of the functioning continuum and against the intellectually disabled at the lower end of the autism spectrum has been reflected in the recent research such as fMRI research which excludes severely autistic children from their studies because of the difficulties they present as subjects particularly the difficulty in ensuring compliance and limited motion during the use of the fMRI.  The researchers' solution? Just exclude and ignore the intellectually disabled, severely autistic from their studies and generalize to the entire spectrum while doing so.  The researchers are willing to make an unsubstantiated generalization to the entire spectrum because it is convenient to do so.  As a parent of a son with severe autism and profound developmental delays I do not have such a luxury when it comes time for anxiety inducing activities like haircuts, shaves and dental procedures.

The DSM5 authors claim that the New Autism Spectrum Disorder is based on current research.  It is no surprise then that the autism research bias against those with severe to profound intellectual disability is also reflected in the express exclusion of those who display all of the mandatory criteria of the New Autism Spectrum Disorder but also have the misfortune to be intellectually disabled.  Like the mainstream media, like the autism research community generally, the DSM Neurodevelopmental Committee authors of the New ASD  have, for no good reason, chosen to banish the severely intellectually disabled, Autism's Outcasts.

Shame on Dr. Catherine Lord and the DSM5 Neurodevelopmental Committee. I will think of their convenience based exclusion of the intellectually disabled from autism research and the DSM5 autism disorder as I help my son shave today. 

York University Study Joins Ranks Of Those Raising Questions About The DSM5 Autism Do-Over

In Autism diagnosis change questioned by York University  study Toronto Star Science & Technology Reporter Kate Allen interviews Dr. Adrienne Perry and York University undergraduate student, Azin Taheri, about a study designed by Taheri, with assistance from Dr. Perry, which had been intended to look at how the new DSM-5 criteria applied to kids already diagnosed with Autistic Disorder and PDD-NOS. No subjects with Asperger's Disorder were included in the study. 

"The York study looked at case histories of 131 children aged 2 to 12. All had either autism or pervasive developmental disorder-not otherwise specified (PDD-NOS), two of the current subcategories. None had Asperger’s.

Perry, who had originally diagnosed all the children, used her previous clinical notes and parent interviews to complete the DSM-5 checklist. Another experienced psychologist, who was not told about the hypothesis of the study, did the same for about a quarter of the cases with nearly identical results.

Eighty-one per cent of the children diagnosed with autism using the old criteria also qualified for the new diagnosis of Autism Spectrum Disorder. But only 17 per cent of the PDD-NOS kids did. Many more of the children with low IQs fit the new description than those with high IQs.

The findings were both surprising and troubling, especially since a cluster of studies have arrived at similar results. Perry and Taheri’s study was presented at a conference in May."

The study report, Exploring the Proposed DSM-5 Criteria in a Clinical Sample,        is available in full online as published in the Journal of Autism and Developmental Disorders Volume 42, Number 9 (2012), 1810-1817, DOI: 10.1007/s10803-012-1599-4.

It is difficult to accept that the DSM5 Autism Spectrum Disoder represents the current state of autism science when several studies, and numerous autism researchers and clinicians,  have raised serious questions about the redefinition of what is by most people's understanding a group of very complex disorders with no, as yet identified, biological markers, no understanding of what causes these disorders.  The wisdom of redoing the definition of what constitutes autism is not at all clear to this humble father of a wonderful son who suffers from severe autistic disorder and profound developmental delays. Not clear at all. 

Medicare for Autism Now: Shelley Davis Behavioural Consultant and Attorney

From the Medicare for Autism Now web site and the film Medicare's Orphans: A Film About the Fight to Get Healthcare for Children with Autism in Canada an interview with Shelley Davis:

Shelley Davis is a US based Behavioural Consultant who has consulted to BC families for the last 15 years. She is also a practicing attorney. She reviews two US laws – the IDEA (Individuals with Disabilities Education Act) and the ADA (Americans with Disabilities Act) and how determined parent advocacy attained both. She describes the stark contrast in approach and delivery of autism treatment between California and BC. In her experience the only reason for improvements in BC was the result of the work and advocacy done by the original FEAT of BC (Families for Early Autism Treatment) parents. However, in her view, we’re still at the very beginning of the process. We need to continue to work together and have high expectations because it so too easy for children with autism to be pushed aside.

DSM5 Autism's Targeted Exclusion Of Intellectually Disabled Is NOT Based on Research Evidence

Dr. Catherine Lord has attempted to sell her DSM5 New Autism Spectrum Disorder in a comment at the Huffington Post by telling the ignorant, unwashed public that we have nothing to fear from the DSM5 Autism changes. Dr. Lord is trying to paint those who disagree with the DSM5 Autism Do-Over as irrational  thereby deflecting legitimate criticism which she and her DSM5 colleagues have not been able to credibly answer.  My criticism of the new DSM5 is two fold. 1. It expressly targets for exclusion the intellectually disabled who are also autistic and 2. It oversimplifies a complex disorder.  

I have commented for the past 2 1/2 years on the DSM5's  targeted exclusion of the intellectually disabled. The new definition excludes persons with profound intellectual disability from an autism diagnosis even if they display ALL of the diagnostic criteria.  This exclusion is derived from the convenience of researchers and clinicians who find the challenge of working with severely autistic, profoundly intellectually disabled persons too overwhelming.   Dr. Lord herself pointed out the tendency of autism researchers to exclude those with multiple disabilities and moderate and severe intellectual disability in  Social Policy Report, Autism Spectrum Disorders Diagnosis, Prevalence, and Services for Children and Families:

""However, research in ASD has tended to use overwhelmingly White, middle to upper middle class samples, and has often excluded children with multiple disabilities and/or severe to profound intellectual disabilities". [underlining added - HLD]

Parents of children with severe autism and intellectual disabilities can not simply abandon our children. Unlike parents, autism researchers and DSM5 autism committee members do not have to find ways to work with the most challenged autism cases.  They simply exclude them by redefining them out of the spectrum.  They do so by ignoring the evidence of those diagnosed with autism and ID by existing criteria.

The express exclusion, "not accounted for by general developmental delays"  occurs in the introductory paragraph to mandatory criterion A of the DSM5 ASD definition:

"Autism Spectrum Disorder

Must meet criteria A, B, C, and D:

A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:"

Lynn Waterhouse in her newly released book "Rethinking Autism" Variation and Complexity, pages 382-385, references this express exclusion and argues that the exclusion of those with intellectual disability is NOT evidence based.  She points out that the exclusion is based on a faulty, non evidence based assumption that a  person's intellectual or cognitive disability causes the social communication deficits. Waterhouse argues that the exclusion of the intellectually disabled IGNORES evidence of published, credible,  studies indicating that 55-70% of those diagnosed with autism by prior criteria experienced intellectual disability based developmental delays.  The exclusion also ignores  genetic, chromosomal and neuroscience studies showing substantial overlap between cognitive disability and social communication deficits. 

Dr. Lord confessed in the NYT Amy Harmon interview that the DSM5 team targeted intellectually disabled for exclusion from the new Autism Spectrum Disorder.  That targeted exclusion of the intellectually disabled is not evidence based. It is not helpful to understanding autism disorders generally and will cause harm to the most severely affected by autism, the ones who are, apparently, too much of a challenge for Lord and the DSM5 Autism Do-Over team. The exclusion of the intellectually disabled from the new autism disorder, while not evidence based, serves the interests of researchers, clinicians and services providers who lack the good conscience and the intestinal fortitude to work with the most severely affected by autism disorders: those with  general developmental delays, those with intellectual disability.

I don't know if the DSM5 Autism team has a motto. An accurate, honest one might be:

"DSM5, simplifying autism complexity by ignoring the evidence; helping those with autism disorders, except those who are too challenging and inconvenient."

Is All Genetic Autism Research Fundamentally Flawed?

The assumption in traditional genetic expression analysis that mRNA content is similar between cells (represented by orange and black dots) does not affect the final results when the cells in fact do have equivalent mRNA content, as in Figure A. In Figure B, the cell represented by the orange dots has a significantly higher mRNA content, but when the data is normalized with the assumption that their contents are equal, the perceived response is skewed and inaccurately indicates that some of the genes are repressed (green bars). Using a standardized control, as in Figure C, eliminates the assumptions about mRNA content and presents accurate results.

Whitehead Scientists Identify Major Flaw in Standard Approach To Global Gene Expression Analysis, Nicole Giese Rura, October 25, 2012 

Autism research has been dominated for many years by the "it's gotta be genetic" mindset that has seen autism research dollars flow overwhelming toward genetic research at the expense of substantial research of environmental factors.  This dominance has been maintained despite the failure of the autism research community to find specific genes which could be said to cause autism disorders.  Much of the recent discussion has focused on gene expression.  Now a team of researchers led by Richard Young of the Whitehead Institute has identified a major flaw in traditional genetic expression analysis.  Will this flawed analysis undermine existing autism gene expression research?

The Whitehead article by Nicole Giese Rura indicates that the flaw is serious, even shocking,  that it affects a wide range of current biological research and that it may render previous research based on the flawed assumption questionable:

“The different results we saw from different methods of gene expression analysis were shocking, and led us to reinvestigate the whole process on several platforms,” says Jakob Lovén, postdoctoral reseacher in Young’s lab and co-author of the Cell paper. “We then realized that the common assumption that cells contain similar levels of mRNA is badly flawed and can lead to serious misinterpretations, particularly with cancer cells that can have very different amounts of RNA.” 

 In addition to delineating this problem, the Whitehead scientists also describe a remedy. By using synthetically produced mRNAs, called RNA spike-ins, as standardized controls, researchers can compare experimental data and eliminate assumptions about total cell RNA amounts. The remedy applies to all three gene expression analysis platforms they studied. 

Although the researchers believe the use of RNA spike-ins should become the new standard for global gene expression analyses, questions are likely to persist about the interpretations of much prior research. 

“There are over 750,000 expression datasets in public databases, and because they generally lack information about the cell numbers used in the analysis, it is unclear whether they can be re-examined in order to validate the original interpretation” says David Orlando, a scientist in the Young lab. “It may be necessary to reinvestigate some important concepts.”

Hopefully credible professionals involved in autism research will address this development promptly, indicating whether they agree with the Young Lab study, to what extent genetic autism research is affected and whether it will be necessary to reinvestigate conclusions reached by prior genetic autism research.  

Questioning Answers - An Excellent Autism Research Blog

My favorite blog dedicated to autism research is Questioning Answers, by researcher Paul Whiteley,  and I  recommend it for anyone interested in the subject.   Whiteley  presents autism research information in a manner that can be digested by this humble autism dad and is not condescending.  The content is broad, balanced and clear in its coverage of autism research subjects.  Whiteley displays no obvious bias,  (not obvious to me anyway),  in his comments which are always informative.  The QA blog regularly focuses on subjects that will be of interest to parents such as yesterday's Antipsychotics, autism and core symptoms. 

Whiteley describes his blog and his interest in autism and other research on his blog site profile:

"I have been involved in autism research for more years than I care to remember. The Questioning Answers blog is a place to describe and discuss various research into autism spectrum and related conditions. My Gutness Gracious Me blog is for discussions on various gastrointestinal research. I make no recommendations, I am not giving any medical advice, I am not formulating any specific opinions and do not want to get into any ethical, political or religious debates. I am not trying to change anyone's opinions, views, beliefs or anything else. These are purely blogs about science and research in autism and a few other interesting things. Any posts I make are my own opinions and not reflective of any organisation I am affiliated to. Keep in mind that science deals with probabilities not absolutes."

I follow Questioning Answers, read it regularly, and follow Whiteley's Twitter updates @QuestAnswers as well.  In my opinion Whiteley's blog profile self description is accurate and honest.  On Blogger and on Twitter Questioning Answers is a valuable  resource and I highly recommend it for anyone interested in autism disorder research.

Autism Stem Cell Treatment Research: Who is the Real Quack? Gorski (ORAC) or the FDA?

Real Quackery: Duck Flapping and Splashing  

Photos by HLDoherty 

In any commentary in which I dare question the self appointed protector of all things scientific, the ORACle known as Dr. David H. Gorski,  I have to begin with the statement that I recognize the public health importance of vaccines and that both of my sons, and I for that matter, have received all vaccines recommended by our local public health authorities in New Brunswick.  This statement is necessary because Dr. Gorski almost invariably alleges that anyone who questions the wisdom he brings down from the mountain top for us, the ignorant unwashed, is really just a closet anti-vaxxer.  I don't think vaccines are perfect though and it is my understanding that neurological damage has been caused by some vaccines in some individuals. I am aware also that Dr. Bernadine Healey had recommended further study of possible vaccine autism connections before her death ... and that some had vilified her for doing so.

Yesterday I commented on the fact that the FDA had approved a study to determine whether umbilical cord blood derived stem cells might be effective tools in treating autism. The article I quoted from contains some professional quotes indicating that the study is well designed and also contained a number of quotes expressly indicating that it is a very PRELIMINARY study.  I was happy to see research aimed at establishing or assessing possible treatments for autism disorders.  I was also happy that the study was, as reported in the article, approved by the US FDA.  To my thinking, as a humble autism dad,  FDA approval confirmed that the study would be conducted by appropriate guidelines, professionally and ethically. My commentary attracted a comment from MJ, author of the Autism Jabberwocky blog:

"Did you notice that the self-appointed high priest of science wrote (at least) two pieces on stem cells and autism? In the first he calls it quackery because it isn't evidence based and in the second says that studying the issue at all is unethical. He really seems to want to have it both ways. No treatments without proper research, which is reasonable, but no research because there is no evidence that it would work...."

I think MJ has made an excellent point.  How are we supposed to determine what is evidence based, effective treatment for autism or any other disorder, if no research is done to determine effectiveness?

Gorski`s objection to the ethics of a preliminary study of stem cells in treating autism disorders is set out in Is a trial of stem cell therapy in autism scientifically and ethically justified? :

``Think of it this way: Do you think that the evidence implicating a hyperactive immune system is strong enough to justify treating autistic children with prednisone? Cyclosporine? Other immunosuppressive drugs? If not, then why would anyone advocate using autologous stem cells, which appear to be immunosuppressive? Why on earth would an institute like the Sutter Neuroscience Institute carry out such a trial based on low prior probability? What sort of preclinical evidence did they have to justify this trial? The scientists in the article who say that the likelihood of a positive result from this trial is low are, if anything, too optimistic. The likelihood of a positive result is almost homeopathically low. When it comes to clinical equipoise, this trial looks to me as though it’s all risk with too little prospect of benefit to be justifiable without a lot more clinical evidence.``

While he is notorious for splashing for attention by flapping his wings and quacking out cheap insults at those who disagree with him, I have no doubt that surgical oncologist Dr. David H. Gorski (ORAC) is much better placed than I am to assess the ethical basis for conducting this preliminary study.   He questions the internal review board (IRB), apparently unknown to him at the time, in  a reasonably courteous, serious  manner.  What is not really clear from Gorski's comments is whether he would ever view any autism treatment study as justifying  supervision by an IRB or approval by the FDA.  In the comment linked above he did state with reference to pharmaceutical companies seeking drug approval:

"Similarly, any private entity (such as a pharmaceutical company) seeking FDA approval for its drug or device have to register with the FDA and abide by the Common Rule, whose most important set of rules mandate IRB approval and monitoring of the research. Some states also mandate that all human subjects research carried out within their borders, regardless of funding source, must abide by the Common Rule."

Since there is an IRB in place for this preliminary study, and since the FDA has given its approval for it to proceed, I assume Dr. Gorski (ORAC) will, if he has not already done so, acknowledge that this study is being conducted in accordance with recognized public health authority backing. As a mere layperson I assume that the US FDA has conducted the usual inquiries and that they are best placed, even better placed than surgical oncologist and autism expert Dr. Gorski, to determine the ethical appropriateness of the study. 

I assume that Dr. Gorski who feels FDA approval is a comforting requirement for  approval of new pharmaceutical company drugs or devices is also comforted by the FDA approval of the stem cell preliminary study. Surely he does not now consider the FDA to be governed by the quacks he so detests?

Regardless, if Gorski, the FDA or any other health professional or authority is simply going to ridicule and dismiss attempts to conduct any research into possible autism treatments and cures they will simply lose credibility with many autism parents when they try to convince them that they should stick with evidence based treatments for their autistic children.  That is not quackery. That is reality.

FDA Approved Stem Cell Autism Treatment Preliminary Study

I was surprised to see that a preliminary study of stem cell treatment of autism disorders is proceeding with FDA approval in the United States.  Stem Cells as possible treatments for autism have been mentioned for some time but have been subjected to disparaging commentary for several reasons including the usual anti cure attacks from Neurodiversity self interest groups. To see a preliminary study actually examining a possible source of treatment and cure for autism disorders is startling.  To see such a preliminary study receive FDA approval and thereby receive some protection from the anti cure autism extremists and self anointed protectors of the one true science at Respectful Insolence and similar sites is almost shocking.

Philly.com carries a HealthDay article by Mary Brophy Marcus, Could Stem Cells Treat Autism? Newly Approved Study May Tell  which indicates that: 

"Thirty children with the disorder, aged 2 to 7, will receive injections of their own stem cells from umbilical cord blood banked by their parents after their births. All of the cord blood comes from the Cord Blood Registry, the world's largest stem cell bank. Scientists at Sutter Neuroscience Institute, in Sacramento, Calif., said the placebo-controlled study will evaluate whether the stem cell therapy helps improve language and behavior in the youngsters."

The article  is careful not to over hype the study emphasizing that although it is a well designed study it is still a preliminary study which will in effect help decide whether further such studies concerning stem cell treatment of autism are warranted and that it is very early in this process.  The article also points out that there are mixed views  with some researchers being skeptical about the value of stem cells in treating autism. 

The cautions expressed are  helpful to my mind.  Those who oppose research that might lead to knowledge of autism causation, or to treatments and cures will seize on any excuse to attack and derail such research.  The disciplined, professional approach will help ward off such attacks.  In the end we should ALL want proper procedures, proper protocols to be followed to ensure that ANY results, positive, negative or neutral to anyone's perspective can be relied upon.

Personally, I am very happy that there is actual  research being done, in proper fashion, by credible professionals, under appropriate authorization aimed at finding treatments and cures for autism disorders. After years of  pointless, meandering,  autism research it is encouraging to see researchers who still live in the real world, who do not view parents as the enemy, and who realize that despite the protests of a few very high functioning persons  autism disorders are very debilitating, limiting and even dangerous for many who suffer from them.  Autism disorders require treatment as advocated by parents seeking treatment and cure for their children and for those who suffer from them and want treatment and cure for themselves.  Let the research be done and be done properly. 

Bribery! First Shave & Haircut for Conor THEN Back to So Called "Segregated" School

Conor Shows Off His New Shave and Haircut

Nothing wrong with bribery if it helps us get Conor to sit still for a shave and haircut! 

That's what happened this long weekend when I bribed Conor to accept a shave and haircut by indicating first shave and haircut then back to school, the school he loves so much. A school where he receives what the extreme, everybody in the mainstream classroom, ill informed inclusion ideologues deride as a segregated school. Conor accepted the shave and haircut. I handled the shave. Mom handled the haircut.

Conor loves his so called "segregated" school experience.  Every day, as I have pictured on this blog many times, Conor packs his back pack and lunch for school and parks them in front of the door  to get ready for school the next day.  

At school Conor starts his day in a Resource Centre with other students with challenges.  It is a wonderful environment for him to start the day, for breaks and for certain types of life skills activities.   There are adults with experience and skills for handling the unexpected challenges supervising and managing the Resource Centre.  It is a warm and welcoming environment and ensures security for students like our Conor.  Conor receives his primary ABA based instruction in a cubicle adjacent to other students also receiving such instruction.  His aide, who provides the instruction, was trained at the excellent UNB-CEL Autism Intervention Training program and his ABA based instruction is a critically important part of Conor's school day.

Conor does NOT like shaves and haircuts.  Sensory issues are long recognized by health authorities like the American Psychiatric Association as a condition that accompanies autism.  Challenges with sensory issues will now be expressly included as a diagnostic criterion, although not a mandatory criterion, in the DSM5's new Autism Spectrum Disorder.  Challenges with sensory issues, including flashing lights and loud sounds,  are recognized by major theatre chains that put on special autism friendly showings of some movies to accommodate those sensory challenges. Challenges with sensory issues are why we removed Conor from the mainstream classroom where he came home every day with self inflicted bite marks on his hands and wrists.  Challenges with sensory issues are why Conor receives his instruction in a quiet area outside the mainstream classroom.  

Conor loves his so called "segregated" schooling.  Conor's experience, the DSM autism criteria, the successful accommodation of his specific autism challenges, the accommodation of other autistic children by theatre chains will have no impact on the rigid, locked mindset of New Brunswick's extreme inclusion ideologues but it is reality.  If only the extreme inclusion ideologues were still capable of looking at the evidence and understanding that  alternative environments like Conor's Leo Hayes High School resource centre, and his individualized ABA instruction area are in fact an accommodation of his autism spectrum disorder challenges.

I have referred to authorities like the American Psychiatric Association.  The APA recognizes in its new Autism Spectrum Disorder diagnostic criteria (B.4.) that some, but not all, children with autism will have sensory challenges.  So too the Autism Society New Brunswick, during the MacKay Inclusion review informed Professor Wayne MacKay of its position that some autistic students can learn in the mainstream classroom and some can not. It is necessary to look at the evidence in each case and provide the appropriate learning environment based on that evidence. 

In Conor's case no one knows the evidence better than his Mom and Dad. If Education and Early Development Minister Jody Carr or Extreme Inclusion Icon Gordon Porter think differently then I ask them whether they think they could safely provide Conor with a shave and haircut?  I don't think they would try ... and in all fairness ... I wouldn't let them. 

ASfAR Early Autism Intervention Review: ABA Only Autism Intervention to Receive Highest Rating of E: Established Based on Evidence

The Australasian Society for Autism Research has just released "A Review of the Research to Identify the Most Effective Models of Practice in Early Intervention for Children with Autism Spectrum Disorders" which assesses the research evidence in support of the various early autism interventions and rates the interventions according to the level of evidence base in support of each intervention.  As with every other major research review of the effectiveness of early autism interventions only ABA, applied behavior analysis, received the highest rating:

All credible reviews of autism interventions from the US Surgeon General to the American Academy of Pediatrics, Management of Children with Autism Spectrum Disorders (2007, confirmed 2010) have rated ABA highest of all early interventions for autism disorders. Only ABA has consistently, as in this Australiasian review, been placed in the highest category in this case described as "Established based on Evidence".  This review, like all other reviews of the research literature before it, is unlikely to change the minds of the anti-ABA ideologues but it is important as one more tool to support political and legal advocacy aimed at providing education and health benefits for autistic children and adults.  Thank you to Dr. Jon Brock a member of the ASfAR executive committee for highlighting this new research report via Twitter. 

Neurodiversity Author and Ideologue Steve Silberman ALMOST Acknowledges Low Functioning vs High Functioning Autism Reality

Neurodiversity autism author and ideologue Steve Silberman ALMOST acknowledged the common sense reality of differences in autism function levels but at the last minute he turned and walked away once again. In an article at Scientific American  titled Contributors Lee Billings and Steve Silberman talk autism, space travel, and extraterrestrial life (Part 1)  Silberman talks briefly about the realities of low functioning autism and how the challenges they present COULD lead one to conclude that there really are differences in functioning levels. Then he abruptly struts away and denies those same differences. He, once again, takes the decidedly Non-Scientific American  ideological perspective that parents and clinicians who recognize differences in functioning levels are simply wrong and that the high functioning autistic persons he knows and adores  who claim that HFA and LFA are meaningless labels are right:

Lee: Is there any emerging consensus about the wide variations in the severity of autism?

Steve: I would say that one emerging consensus is that the idea that there is a single, unified condition called “autism” is little more than a useful fiction. This fiction allows us to address certain similarities across a very broad and diverse spectrum of conditions, and enables government agencies and insurance companies to offer services based on a single box labeled “autism” that can be ticked on a form. But that monolithic notion doesn’t reflect the actual reality, which is much more complex. What we call autism is probably a cluster of many different conditions, rooted in a wide variety of genetic predispositions and epigenetic triggers, which exhibit themselves in many different ways, including variations in severity.  The truth is that there are many “autisms,” rather than one “autism.”

Lee: Could you talk more about the problematic distinctions between “low-functioning” versus “high-functioning” people with autism? What alternative is there to this classification structure?

Steve: Obviously, the language of “high-functioning” versus “low-functioning” is very tempting to use, and most people—that is, parents and clinicians—use it. If you have a kid who can’t talk or use the toilet, rarely seems to connect with the people around her, appears to be profoundly intellectually disabled, and bangs her head against the wall, it seems appropriate to classify her as “low-functioning.” On the other hand, if you have a guy with an Asperger diagnosis who has a job writing code or fixing luxury cars and has a wife and kids of his own—it seems easy to call him “high-functioning.” But the autistic adults I know hardly ever use those two terms, because they know better. Even people who are classified as high-functioning—like John Elder Robison and Temple Grandin—really struggle with some aspects of life that most neurotypical people don’t have to struggle with.  At the same time, some research into “low functioning” individuals in recent years indicates that they may have much more going on inside them than is usually visible from the outside. That’s one reason why the development of alternate forms of communication for people who have difficulty with spoken language—and we’re talking about iPads here, an “assistive technology” that many neurotypicals find indispensable these days—is so important. I’ve interviewed some autistic people who would be written off as “low-functioning” by most people, but once they get an iPad with text-to-speech apps in their hands, they become as eloquent as poets.

Personally, I avoid using the terms “high-functioning” and “low-functioning” because I think they’re both misleading. The term “high-functioning” makes certain kinds of challenges invisible, while the term “low-functioning” makes certain kinds of intelligence and capability harder to see. Many “low-functioning” kids will eventually learn self-care skills and be able to communicate with some form of assistive technology. Once they can make their thoughts visible to others, you find out that they have very rich inner lives, and were always listening to what was being said around them. We need to find out what has worked in the lives of people like Robison, Grandin, and Stephen Shore—a guy who was considered low-functioning when he was young, and whose parents were told to put him in an institution. He’s now a professor at Adelphi University, and a delightful person. Once we find out what has worked for them, we can apply those lessons to the next generation of autistic people. That’s why Jenny McCarthy’s claim that “there were no autistic adults, it’s all now” is not just wacky and incorrect, it’s dangerous, because it deprives the huge population of autistic kids of visible mentors and role models whom they can learn from."

Silberman's claim is that because some persons once considered low functioning went on to communicate and excel in life it is therefore wrong to distinguish between low and high functioning autism disorders. This claim is absurd and lacking in common sense. As he has stated some persons with LFA have difficulty with the most basic functions in daily life like toilet training. Some engage in serious self injurious behavior. He could also have mentioned the autistic adults who live their lives not with assistive technology but in assisted living in varying levels of residential care including full time 24-7 institutional care. The realities of life for these people by any common sense measure are fairly described as low functioning compared to the very high functioning Friends of Silberman club ...  the Robisons, Grandins and Shores. 

Steve Silberman either lacks common sense and can not distinguish between these different functioning levels or he has simply chosen to turn and walk away from that truth in the interest of promoting his career and books as a leading author of the irrational ideology known as Neurodiversity. His public denials of the challenges, the more severe challenges facing low functioning autistic persons puts  him in the group of people who are obscuring public discussions about the natue of autism disorders and the needs of those who suffer from low functioning autism. 

I have visited Low Functioning severely autistic adults living in psychiatric hospitals. I have talked by phone with Michelle Dawson and I have met John Robison at the recent IMFAR conference in Toronto.  I have met very capable persons with High Functioning Autism and Aspergers here in New Brunswick.  These people are much higher functioning in their abilities to function in the real world than those living in residential and institutional care and Steve Silberman should know that. 

Shame on you Silberman.

More Confirmation of Targeted Exclusion of Intellectually Disabled from DSM5 Autism Spectrum Disorder: But NO ONE CARES

Emily Singer has published an article at SFARI, Proposed guidelines won't miss autism cases, study says, which appears to suggest that persons who would meet DSM-IV PDD-NOS and Asperger's will "only" be reduced by approximately 10% under DSM5 criteria. The focus, as always, is on the HF end of the spectrum with no mention made of the intellectually disabled who will be excluded under the wording of mandatory criterion A of the DSM5. "We didn't see any evidence that there would be dramatically lower diagnosis of people with Asperger's or PDD-NOS," says Lord."

Catherine Lord has previously confessed that the real targets for exclusion from the DSM5's New Autism Spectrum Disorder are the intellectually disabled:

-"Catherine Lord, the director of the Institute for Brain Development at NewYork-Presbyterian Hospital, and a member of the committee overseeing the [DSM-5 autism] revisions, said that the goal was to ensure that autism was not used as a “fallback diagnosis” for children whose primary trait might be, for instance, an intellectual disability or aggression." [Bracketed terms added for context - HLD]

- Dr. Catherine Lord, as reported by NYT reporter, Amy Harmon, A Specialists’ Debate on Autism Has Many Worried Observers, New York Times, January 20, 2012

Persons with ID represented "the vast majority" of persons with autistic disorder according to CDC autism expert Dr. Yeargin-Allsopp. The DSM-IV addition of PDD-NOS and Aspergers reduced that figure to 41-44% according to recent CDC surveys.  The DSM5 exclusion under Criteria A for social communication even where  EVEN if all Critera A categories are otherwise exhibited will result in a further significant reduction in numbers of person with autism and ID. And that is the real aim of the DSM5 as Catherine Lord again confesses as reported in the Singer/SFARI article:

"Lord and her colleagues found that the DSM-5 is as sensitive as the DSM-IV, meaning it accurately identifies those who have autism. The DSM-5 criteria also have better specificity than those in the DSM-IV, meaning they can better distinguish between people who have autism and those who have other developmental disorders, the study found."

As set out above the real targets for exclusion from the autism spectrum under the DSM5 autism do-over are the intellectually disabled who are targeted by the addition of the "not accounted for by general developmental delay" disqualifying criterion in mandatory criterion A. Studies by J Matson have confirmed that substantial numbers, as many as 35.5%, of intellectually disabled who would meet DSM-IV autism criteria, will be excluded under the DSM5 criteria. 

In the DSM5 the evolution of autism into Aspergers continues with the targeting for exclusion of the intellectually disabled. But no one cares. Not Dr. Lord,  not Dr. Geraldine Dawson of Autism Speaks whose organisation has expressed concern over the possible impact of the DSM autism do-over on those at the HF end of the spectrum but not on the intellectually disabled. Not the New York Times and other major media who have worried over the possible HF exclusions.   The exclusion of some HF is possible, the exclusion of many LF intellectually disabled is certain but apparently no one cares about the intellectually disabled and the impact this exclusion will have on them.