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Opinion / Cross Talk

Debating the merits of ‘autism’ as a diagnostic category

by  /  11 March 2015

In December, in an editorial published in the journal Trends in Neuroscience, Eric London brought a megaphone to a provocative question that has been whispered among researchers in the field for years: Does the term ‘autism’ really hold value? In a follow-up Q&A on our site, London clarified his argument: “It would be great if categorical diagnosis worked, but it doesn’t.” However, if we doaway with autism as a diagnostic term, what should replace it? We asked several scientists with expertise in basic research, translational medicine, clinical research and policy to weigh in on the topic.

The Experts:
Expert

Thomas Insel

Director, National Institute of Mental Health
Expert

Celine Saulnier

Clinical Director for Research, Marcus Autism Center at Children’s Healthcare of Atlanta and Emory University in Atlanta
Expert

William Mandy

Senior Lecturer, University College London
Expert

Steven Hyman

Director of the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard

A single diagnostic bucket is problematic

Thomas Insel, a physician and neuroscientist, is director of the National Institute of Mental Health in Bethesda, Maryland.

In many fields of medicine, from oncology to infectious disease, there is a growing realization that the pathway to better treatments runs through better diagnosis. ‘Precision medicine’ is the term used to describe the process by which ostensibly singular syndromes, such as breast cancer or pneumonia, have been deconstructed into a multitude of diseases with specific treatments for each.

Oddly, in autism, the process has moved in the opposite direction, as many forms of autism are now clustered together underthe term ‘autism spectrum disorder.’ The move away from precision medicine might make sense given our limited understanding of how to deconstruct autism and, more importantly, the lack of treatments for potential subtypes of thedisorder. A catchall term like autism spectrum disorder simplifies coding, billing and many aspects of service delivery.

But a single diagnostic bucket for a multitude of disorders introduces problems for scientists, especially when researchers are under the belief that the diagnosis confers validity as well as reliability. This is the reason for the National Institute of Mental Health’s Research Domain Criteria (RDoC) project: Diagnosis based solely on signs and symptoms is unlikely to be a valid reflection of a precise biological disorder.

Indeed, virtually every field of medicine has developed biomarkers to augment diagnosis. The challenge for scientists studyingautism is to deconstruct autism spectrum disorder into its many subtypes by identifying biomarkers, including cognitive factors, that can reveal valid subtypes.

It is important to understand that a useful biomarker does not need to be abnormal in every person within the broad autism spectrum disorder category. In fact, the point of having a biomarker or cognitive marker is to identify more homogeneous subgroups. Even in the near term, the RDoC approach can reveal subgroups of autism that reflect mechanisms underlying thedisorder or predict clinical response.

Again, this is the lesson from other areas of medicine. When only half the children with fever and sore throat have a positive Strep culture, we don’t throw out the culture results.

Precision medicine becomes most important for designing clinical trials. No one would launch a trial of a new antibiotic for all children with fever or all adults with chest pain, unless the goal was limited to short-term symptomatic relief. For thedevelopment of effective treatments, biomedical or psychosocial, we need to select individuals with the same disorder.

In terms of treatment response, we don’t yet know whether autism is 5 or 50 disorders, but starting with a highly heterogeneous population is destined to yield negative or weak treatment effects. Defining a more precise diagnosis, as planned through RDoC is, therefore, the first step to developing more effective treatments.

We need common ground across clinical, scientific domains

Celine Saulnier is clinical director for research of the Marcus Autism Center at Children’s Healthcare of Atlanta and Emory University inAtlanta, where she is also assistant professor of pediatrics.

The debate about whether the current diagnostic criteria for autism spectrum disorder and other neurodevelopmental disorders in the latest edition of theDiagnostic and Statistical Manual of Mental Disorders” (DSM-5) have both clinical and scientific utility is an important one. I experience this dilemma every day as I straddle both of these worlds, conductingdiagnostic evaluations for clinical research.

If clinical practice generates questions to answer through research, and science is then translated back into enhancing clinical practice, then I believe we need common classification across both domains.

Eric London’s paper brings to light the many challenges of trying to squeeze the DSM-based peg into a neuroscience- or research-based hole, resulting in the development of the National Institute of Mental Health’s Research Domain Criteria(RDoC). But without some common language, criteria and knowledge base across disciplines, splitting off into different paths is not likely to help the cause.

From a clinical perspective, the DSM certainly poses challenges in that behavioral symptomatology is classified into categories — and, as argued by London, often overlapping ones. For autism spectrum disorder, the DSM-5 has improved in taking a more dimensional approach than previous editions (by considering autism a spectrum and removing subtypes that science had difficulty substantiating), but it is still categorical.

Despite the controversy of labels (disorder, disease, condition and so on), we cannot underestimate the need to have adiagnosis for eligibility purposes. In the absence of a diagnosis, individuals are likely to not receive much-needed treatments or interventions to overcome their challenges, nor will they receive insurance reimbursement for care (the need for insurance reform is a separate issue altogether). What’s more, if given the wrong diagnosis (even if closely related to other neurodevelopmental conditions), an individual is at risk for receiving inappropriate treatment.

The common thread across all autism spectrum disorders regardless of intellectual ability or symptom severity is the social deficits. Non-autism neurodevelopmental disorders may have social complications as a result of their core symptomatology, but these vulnerabilities are not primary to the disability. Treating them as such would not be optimal.

As noted by London, we are learning that early predictors of autism in the first year of life (for example, early motor, posturaland sensory processing impairments) can differ from the symptoms typically observed later in development, and they might not be the core and defining symptoms historically characteristic of autism (social communication deficits and restricted andrepetitive behaviors).

When social communication impairments are not identified and treated early on, debilitating associated behaviors, such asaggression, self-injury and behavioral dysregulation, can develop, surpassing the disability itself and requiring substantial remediation throughout life.

Collectively, these complexities pose challenges for the application of either the DSM or RDoC across fluctuating developmental stages. This also raises the question of whether autism has one etiology or whether ‘autisms’ are the result ofvarious neurodevelopmental pathways going awry at different points in time.

There is value in a diagnosis of autism

William Mandy is senior lecturer at University College London, where he practices clinically and conducts research. Much of his work focuses on how autism is best conceptualized.

Eric London convincingly argues that the diagnosis of autism lacks validity. Current diagnostic criteria for autism almost certainly do not describe a single, real disorder. In fact, they probably don’t even describe a coherent syndrome, but rather conflate at least two symptom dimensions that can occur independently of each other.

There are probably dozens, or even hundreds, of autisms that have distinct causes, prognoses and treatment needs, and that only superficially resemble one another.

Nevertheless, despite my lack of faith in the scientific validity of autism, I believe there is value in continuing to use thediagnosis, both in clinical work and in clinically focused research. Why? Because a diagnosis should be judged by its utility as well as its validity — and over the years, the diagnosis of autism has built up a fair amount of utility.

In part, the growth of its utility is based on a steady increase in public understanding of the disorder. I think many people arealso becoming more empathetic toward people who have the diagnosis. Schools increasingly accommodate and supportchildren with autism. Parents feel less blame for their child’s difficulties if the child is diagnosed with autism. Also, treatmentsare emerging that help alleviate some of the difficulties experienced by people with autism.

What’s more, the community of people with autism is growing in cohesion and strength, and is increasingly finding ways toarticulate the needs of its members. Many people report that receiving an autism diagnosis served to help them better understand themselves, and to view their own struggles with more compassion and less shame. Others report a sense ofkinship with other people with autism that fosters a positive self-concept and greater resilience.

London suggests that autism be replaced with a broader ‘neurodevelopmental disorders’ category, with specifiers being used to communicate the individual’s specific pattern of neurodevelopmental difficulties. In theory, this is an excellent idea but, in my opinion, it is impractical. Such a move would cause widespread confusion in clinics, schools and the wider community — and it would certainly be resisted by the countless numbers of people for whom being ‘autistic’ is a proud part of their identity.

I believe that we should retain the category of autism, but not its reification. We can continue to use the term autism or autism spectrum disorder, while understanding that it denotes a heterogeneous group of people. The task of the next decade is to discover the best ways of parsing this heterogeneity: Success in this will result in a more valid system for categorizing neurodevelopmental problems. Only once we have at least the beginnings of a scientifically valid replacement should autism be retired from psychiatric classification.

Current categories are both too narrow and too broad

Steven Hyman is director of the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard University, as well as Harvard University Distinguished Service Professor of Stem Cell and Regenerative Biology.

Diagnostic criteria for autism and indeed all neuropsychiatric disorders remain in an awkward transitional state. Objective medical tests are still lacking, and shortcomings in the newest edition of theDiagnostic and Statistical Manual of Mental Disorders” (DSM-5) are well recognized.

Among other flaws, DSM-5 categories have the odd property of being too narrow and too broad at the same time. Narrowly constructed DSM diagnostic silos create vast erroneous comorbidities even in cases where a single pathophysiological process is likely to be at work. Despite their narrowness, DSM categories do not identify homogeneous populations, as confirmed by recent advances in genetics.

Yet current knowledge of pathogenesis — the basis of mature diagnostic systems in medicine — is not yet adequate for autism or other neuropsychiatric disorders to produce a good alternative. The National Institute of Mental Health’s commitment to developing Research Domain Criteria (RDoC) centered on the dysfunction of neural circuits is at an early stage. An emphasis on RDoC-like approaches already benefits researchers, however, by freeing them from the need to ground their research in fictive DSM-5 categories.

Scientifically, the DSM-5 definition of autism spectrum disorder is an improvement over the previous version, the DSM-IV, by removing poorly validated subtypes. However, the category still selects populations that are too heterogeneous to form thebasis of most brain imaging studies or clinical trials.

Genetics has been successful in the past few years in spite of the DSM. Given the intrinsic heterogeneity of genetic risk for neuropsychiatric disorders such as autism, large samples are needed to achieve results that stand up over time. The fuzzinessof DSM diagnoses makes the ‘signal-to-noise’ problem even worse. Ultimately, the identification of most common and rare genetic variants that contribute to autism will require samples from many tens of thousands of individuals.

Strategically, it makes sense to lump neurodevelopmental disorders for now, in order to give researchers a chance to start overagain, free of the bias created by current unwarranted splits. Researchers can then reanalyze these larger groupings with modern scientific tools, to search for meaningful stratification of disorders that might, for example, inform treatment.

One such approach, which is being applied to general medical disorders, is to search within large genetically analyzed populations to find affected individuals with shared risk factors. Individuals who thus appear to be stratified by their genetics would then be recontacted by researchers and deeply characterized — perhaps with new approaches suggested by thegenetics. The ultimate goal is finding empirically based subgroups within larger syndromes.

For now, as researchers test new hypotheses offered by genetics and other scientific observations, there must be some latitude for researchers to leave the Procrustean DSM categories behind. The RDoC initiative is a good start. However, in thelong run, it will be important to bring the sets of criteria together again, or at least to have effective crosswalks.

Individuals with autism and their families will want to know how new scientific findings apply to their condition, most notably to treatment recommendations. Also, if the Food and Drug Administration were to approve a new drug, it would have to rely on criteria used by clinicians, because it is clinicians who will be doing the prescribing. In both cases, it will be critical to be able to connect scientific findings with clinical care.


About Cross Talk
Discussions among leading experts in the field. Submit your questions to [email protected].
  • Dena Gassner

    The primary concern I have with the DSM 5 is that they have deconstructed autism such that, one needs multiple disabilities to be able to be served in every domain of difficulty. My son, who was diagnosed with PDD-NOS 20 years ago, would now require diagnoses including Social Pragmatic Disorder, Autism Spectrum Disorder, Specific Learning Disabilities in all areas, Stereotypic Motor Disorder, Motor Delay. All of these were considered “features of ASD” in prior interpretations. Now he would have to be categorized at school as “multiply handicapped”. ASD is a constellation of needs and strengths (which are never addressed) that present uniquely in each person. Further, the gender bias in diagnosis is creating maltreatment and exposing girls and women to delayed services and protective capacities. We can do better.

    • Planet Autism

      I agree it has been broken down and not necessarily correctly, such as SCD. In the UK some clinicians use the DSM and some use the ICD which is another problem. There should be a requirement to only use the ICD which after all, is international. There is already vast variation between areas as to how assessments are done in the UK and using different manuals only exacerbates it, especially with such failings from CAMHS as exist.

  • Seth Bittker

    The behavioral definition of autism is useful in that it describes behavior and studies show many with the characteristic behavior will get benefit from ABA or other forms of behavioral therapy.

    It also seems logical to make use of some form of biomarker where possible as this can be more objective and may lead the way to biochemical therapies. It seems that a hunt for a single marker which explains all aspects of behavior is unrealistic. However, there are a large number of biomarkers in the literature currently that could be used (for example some urinary markers for autism include high N-methyl nicotinamide in urine, high HPHPA in urine, high hippurate in urine). Categorizing using such biomarkers makes sense because we are more likely to get to meaningful biochemical therapies based on a biochemical definition.

    So when providing a diagnosis we should say something about behavior and something about biochemistry where possible. I.e. he has “autism by DSM V with elevations in HPHPA and hippurate based on organic acid test.” This would also encourage physicians to get in the habit of ordering metabolic and immune marker tests when diagnosing autism, which would be a positive step since for some metabolic abnormalities associated with autism there are effective biochemical therapies already.

  • Alison Singer

    When Dr. Mandy writes that “the growth of its (a diagnosis) utility is based on a steady increase in public understanding of the disorder” he is ignoring the fact that for the most severely challenged people with autism, public understanding and awareness has declined. With the increase in focus on high functioning people with autism in the media, in research, as self advocates, etc, the expectation for intellectual and behavioral functioning of people with “autism” is higher than ever. When I meet someone new and tell them my daughter has autism, the first question is often “is she high functioning?” She’s not, and her needs are very different than the needs of someone with completely different symptoms. Families raising severely effected children are not focused on job skills, self actualization or personal fulfillment; often we are simply trying to prevent our kids from peeling the skin off their arms and running out of the house naked in the middle of winter.

    While it is important that very high functioning people with autism have access to supports and services to mitigate their social disability, it is a huge disservice to extremely challenged people with autism to use the same term to describe their grave issues. We need a new word to describe the type of autism that is relentless, aggressive, abusive, painful, constant and overwhelming. Without a new term, our children are sure to be left behind.

    • Paulina

      Alison, I just wanted to say that this is a very important and acute issue as educational providers, schools and people around us have no idea what severe autism with all the associated difficulties looks like and what it is like for the parents, fighting a relentless war.

      • Planet Autism

        If you think the ‘war’ fought by parents of high-functioning children is any less relentless you are incorrect. In fact, it’s likely much harder, because many of us have had to fight to get recognition of our children’s difficulties, had it blamed on parenting and fought hard for support purely because the difficulties are “invisible” as a disability but no less profound, just profound in a different way. People with high-functioning children are far less likely to qualify for support such as respite care, far more likely to have their children forced into a mainstream school they cannot cope in, to go to tribunals to get statements of SEN etc. Please read about the misnomer of the high-functioning label on Bill Nason’s Facebook page. High-functioning people are also far more likely to suffer mental ill-health through the associated failure in support for them. It’s high-time those at the less severe end of the spectrum were recognised.

    • Planet Autism

      I would be interested to know on what you base your statement “the fact that for the most severely challenged people with autism, public understanding and awareness has declined”? I see it as the opposite, that awareness of “lower functioning” autism is likely what it ever was, but “higher functioning” autism still has virtually zero public understanding and awareness despite it having been put higher on the agenda. In my view, the Autism Act 2009 and subsequent strategies have been entirely ineffectual due to no policing and as a result amount to lip service. There is the most massive autism ignorance towards high-functioning people and I encounter this daily. I recently saw a doctor and when she knew I was on the spectrum she said (which I didn’t take offence at because she was lovely and with her being foreign I know sometimes foreigners word things in a way that may [ironically] not be socially as acceptable in the UK) “well you managed the communication well”. In fact the medical profession seems as ignorant as the general public which is shocking, considering the legal requirements on them to provide reasonable adjustments and not to discriminate.

  • ASD Dad

    Here’s a provocative thought – whilst the focus is often on science / medicine – has anyone of those commentators ever thought of the valuable insight that education and those involved in the educational process, bring to the table in improving (treating ?) many of the aspects that define children with Autism in the real world.(I include family as educators)

    Quality teachers, teacher aides and a host of other people directly and indirectly involved in my son’s education moved him forward, without reference to genes, biomarkers or neurology.

    Whilst a diagnosis and accompanying label may be important it is not everything.

    Is it ?

  • Gene Bensinger

    I agree with Alison Singer that, unfortunately, the increased focus on the area of moderate and severe social challenges and deficits in autism has had some negative, unintended consequences for many individuals and families who experience “autism” in its most severe, global manifestations. Policy makers seem to be minimizing the support needs of this more highly impacted population too.

    • Planet Autism

      On the basis of what do you claim ‘more highly impacted’? Please read my response to Alison Singer regarding the misnomer that is “high-functioning” (not even a diagnostic term despite it’s prevalent use). Being verbal, being able to use the toilet, being able to manage some vestige of “self care” does not render someone less highly impacted. It’s just differently impacted. High-functioning autistics still self-harm, neglect themselves, are judged as able when they are not, often don’t qualify for support or respite. Parents of high-functioning children are too long the forgotten army in the ‘war’ referred to by Paulina. Despite the Autism Act 2009, we are still being failed. I am on the spectrum and also parent to two autistic children so I experience this from angle of parent/carer and involved individual.

  • Eric London

    I would like thank SFARI and the Cross Talk participants for helping to further the discussion of this challenging but important topic. Overall there appears to be substantial agreement about the problems which the categorical diagnosis presents. Much of the disagreement appears to be more tactical in how to proceed to solve the problem.
    The question of how urgent it is to move past the Procrustian DSM (thank you for that adjective Dr Hyman), appears to be at issue. As Dr Insel points out, precision medicine is a key in designing clinical trials. Recently two very hopeful clinical trials (mGluR 5 inhibitors and arabaclofen) for fragile X and autism failed, despite having some clear responders in the trials. In the case of fragile X having a well characterized genetic association was also not sufficient to stratify the subjects in the study. The RDoC will aid in defining biologic systems which cross DSM boundaries. The tactical issue at hand is whether at this point, we could be doing a better job at observing, documenting and analyzing clinical observations, using a more agnostic approach facilitate by abandoning DSM categories. Combined with RDoC type research, it is possible that more useful characterizations of the patients might lead to better prognostic insights, treatments and superior outcomes. In the end, it is the observable symptoms which must be treated, regardless of how “basic” the intervention is and there is no doubt that the treatments will cross current categorical boundaries.
    I cannot fathom how it will be possible to retain the diagnosis without its reification. Reification is practiced not just by the uniformed but is the norm rather than the exception among the informed. Many autism meetings open with a lecture on heterogeneity and then speaker after speaker present their data derived from the categorical diagnosis confirmed by the gold standard. This is defacto reification. If I repeatedly raised my hand at meetings to point this out I would no doubt be considered socially inappropriate and perhaps spoken to by well meaning wiser officials prior to being ejected.
    Despite Dr Mandy’ s correct assertion that there has been a beneficial growth in awareness which has been associated with the term autism, I have no doubt that families and affected individuals would quickly trade in their attachment to the diagnosis for more effective treatments. Obtaining the diagnosis often requires many months or even years involving many visits and referrals. During this time, valuable early intervention is not taking place. This is a disgraceful situation and not necessary. At least in part, it is the categorical diagnosis which frightens many professionals away from making a diagnosis which is the first step toward treatment. Research has shown that primary care physicians consider themselves incapable of diagnosing and treating autism (although they believe themselves to be capable of treating equally complex brain disorders) and other studies show that the families agree with their primary care provider’s inadequacy. A similar situation exists for special education teachers. While I do not mean to minimize the inherent challenges presented by those who we now categorize as autistic, I suspect that demystifying the diagnosis would go a long way towards inviting community service providers back into the fold. Behaviorist have been doing very effective treatment for decades with minimal attention to diagnosis. Einstein said “if you cannot explain it to a 6 year old, you do not understand it yourself”. Let us at least have descriptors that we can explain to primary care physicians.

    • Robin P Clarke www.autism-causes.org

      “If I repeatedly raised my hand at meetings to point this out I would no doubt be considered socially inappropriate and perhaps spoken to by well meaning wiser officials prior to being ejected.”
      – In other words, autism researchers’ meetings discriminate against those displaying autistic (but super-appropriate) behaviours?!

  • RA Jensen

    I’ve watched this debate for decades. In the 1980′ the co-editors of the Journal of Autism Eric Schopler US Editor) and Michael Rutter (European editor) wrote an article on the debate between what they called ‘lumpers’ and ‘splitters’ when it comes to diagnostic issues. I’m looking forward to the publication of ICD-11. The chair of the autism working group is Sir Michel Rutter who said ‘At the moment there are important differences between proposals for DSM-5 and ICD-11. For the most part, there is broad agreement on the overall concepts but there are difficulties with respect to the details. That arises most especially because the DSM-5 starts with dealing with research criteria before considering the concepts and WHO does it the opposite way round. That is to say, the starting point with WHO is the clinical conceptualisation and the clinical criteria. At a later point, of course, research criteria have to be developed but that comes secondarily. In my view, that is the most appropriate way round’.

    • Planet Autism

      I have contributed to the draft beta ICD11 regarding autism because I was horrified at the way the DSM went in dropping Asperger’s and bringing in SCD (a sure way to miss many high-functioning and masking autistics) and already it looks like ICD11 is following suit. I am also dismayed at the DSM ignoring the issues of female presentation of autism which can only be addressed by amending the diagnostic criteria.

  • ASD Dad

    Autism as I have said ad infinitum needs a multidisciplinary approach that encompasses a range of “diagnoses”. A team of insightful and practical minded medical, educational experts, parents and the child , youth or adult themselves … bring together knowledge as to real (for lack of a better word) functionality and overall quality of life.

    In some children with severe impact a thorough neurological diagnoses (ie epilepsy) may be the key to making large steps to quality of life improvements and have a broader effect on ‘autistic’ behaviors.

    Other teenage children may need the assistance of social skilling programs that help them achieve better interpersonal relationships, without ever the need for medical intervention of any kind.

    In young preschool children it may be the use of ABA …

    There are differing perspectives … but there is also the ability to encompass and embrace these all. It goes to personalized ‘care’ …not necessarily personalized “medicine’ … there is a difference.

    The medical profession needs to get out of the clean antiseptic hallways of universities and hospitals and visit real children, in real life situations and talk to real parents in their environments to understand the Autistic world.

    • Planet Autism

      ABA is viewed very controversially within the autism world.

  • Mark Carew

    Understanding Diagnosis?. What is diagnosis? Simple questions? To understand, I suggest, perhaps first establish identity and consensus of stakeholders. On this basis alone, I see only a whirlwind of confusion. “Autism” is a problem to civilization, and it is the key movers in that sphere who are content with the confusion. Science is complicit by default.

  • Planet Autism

    In the UK, there is no automatic testing of biomarkers in the assessment process. The NHS needs to spend more on autism to ensure all individuals are accurately diagnosed. There is a massive divide between research and the clinicians on the ground. I don’t believe NHS clinicians are even required to keep up-to-date on research. When a senior CAMHS clinician had no idea of the genetic link between schizophrenia and autism and I as a layperson did, I realised how bad this issue was.

    • Seth Bittker

      I am in the US, and while I have no experience with the medical system in the UK, I don’t think you are missing much with respect to autism diagnosis and treatment.

      I live in the northeast part of the US close to New York which is filled with very high profile hospitals and specialists. So theoretically medical care and autism diagnosis should be fairly up to date here. However, my experience is diagnosis is purely behavioral here as well. Pediatricians do not order biochemical tests and most don’t even think of autism as being caused by biochemical dysfunction. If we could just get practitioners to order quantitative organic acid tests including dysbiosis markers and tests for immune markers, I think we could learn a lot more about this disease and perhaps help a lot of kids as well.

      • Planet Autism

        I agree assessment should be a holistic process. For instance, mitochondrial disorders should be tested for, methylation, mast cell disorder etc. All the while doctors are not joining the dots there will be lack of understanding. For instance there is a strong correlation between Ehlers Danlos Syndrome and Autism. But many children with autism who suffer clumsiness and hypermobile joints and tiredness are not assessed for EDS. At least in the US you have medical insurance so you are more likely to be tested for things. In the UK there is a cost-cutting, money-saving mentality with the NHS and so many conditions are not diagnosed, especially if they are invisible disabilities. There is also a great lack of expertise in the UK regarding high-functioning autism and even more so if the individual is female.

    • Robin P Clarke www.autism-causes.org

      “Knowing” that there “is” a genetic link between schiz and aut could actually be ignorance rather than knowledge. Typically aut and schiz tend to have in common: social withdrawal and unorthodox behaviour. Consequently there is a likelihood of false blurring of the “diagnoses” between the two. Which leads to an artifactual “finding” of a genetic link which is nothing of the sort in reality.

      • Robin P Clarke www.autism-causes.org

        I should clarify that the “linked” genes in question would be genes for introversion, which is commonly misinterpreted as either aut or schiz.

  • elizabethtorres

    You should replace it with a neuroscientific characterization of the stuff that behavior is made up of. That is, the efferent motor output variability at all levels of the nervous system, from breathing to digestion to actual motions, and then with the neurophysiological characterization of the returning afferent streams that those very motions caused in the periphery (as directed by the brain). Dig into the neural activity underlying change in non invasive and naturalistic ways using existing wireless EEG technology beyond the rigid constraints of imaging research where the person is forced to be still, the most difficult thing for anyone typical, let alone for a system with issues of volitional control.

    You should precisely characterize pain, temperature dysregulation and movement control (volitional and spontaneous) to have an index of corporeal awareness and frame of reference in each child. You should quantify how they cannot sense touch and pressure appropriately, how they can be out there in the cold or heat and have delayed reactions to it, how the sensations of their body and external world are different. All of these information is quantifiable today. We have invented the means to do this in real time. I can provide you with a long list of PUBMED papers, an e-Book and media coverage. It is useless for there is a community holding tight to the cash cow that is autism or to the glory and fame that has endowed them with at the expense of negatively impacting many lives. The disconnect between these researchers and the affected people is so huge that the very inventories that help diagnose this “social – cognitive disorder” are full of useless objects and miniature stuff that most kids cannot even hold because they cannot feel the tips of their fingers appropriately. The whole inventories are full of presses that stress the kids so much and give them so much anxiety that their practice should be banned altogether.

    You should get rid of all the Psychological (guessing and theorizing definitions) that are based on opinions and agendas driven purely by money and the desire to be famous and important in some idiotic community. You should replace it in other words with real quantitative and blindly reproducible science. Such a thing does exist and we do it every day, 24/7, weekends included, in my lab at Rutgers University. And people are listening out there. Parents and people in the spectrum are listening.

    The scientific community needs to rid itself of biases and despicable practices that handcraft stories and lies in autism. There is absolutely no science behind most claims and the little bit of truth that sees the light is distorted and contaminated. It is forced to be regressed against noise (i.e. all the non sense observational inventories that severely pollute our science and that is costing taxpayers a bundle).

    Those of you behind these inventories, pay attention, you are directly impacting the lives of the people affected by this disorder that you have specifically said is not sensory-motor based. There is a cost for this lie and it is by now a hand crafted deliberate lie. I have quantitative proof of it and many more in the scientific community do as well. You will not get away with it for much longer. I promise you that on behalf of all the children and adults in the spectrum that have touched us deeply and that are now my family. This is a personal matter for me and as far as my lab and our families across the world are concerned, there is no way to stop the transformative change at all fronts of what you have handcrafted as autism.

    • Robin P Clarke www.autism-causes.org

      What Elizabeth Torres is talking about above is quite well presented in this very short video. https://youtu.be/yCEWNNs7z88
      It appears to be an important discovery, but of course autism researchers are too busy chasing their colleagues’ tails to notice it and the many people who have heavily invested in “diagnostic” expertise will not welcome a prospect of their being made irrelevant. Meanwhile Elizabeth also errs in aligning with the standard evidence-defying pseudoscience claptrap that autism is a “disorder” (or “disorders”). As I will be explaining in due course.

  • usethebrainsgodgiveyou

    Elizabeth…I’m not sure where you are coming from, but I sure as heck do get tired of the fear based BS that passes as science.

    • Elizabeth B Torres

      I’m coming from the type of objective science and Applied Mathematics that permeates entire fields of Neuroscience and that the autism field is lacking. But I’m also and more importantly coming from the human side of things where each of 100’s of families that by now have come to my lab our come in touch with us are now my own family. I refuse to see autism as “them” and “us” for we’re all in this together. And I am also tired of what others call science. It is scary to see what they have gotten away with.

      • usethebrainsgodgiveyou

        I meant to reply to you, my comment is below this one.

  • usethebrainsgodgiveyou

    I see you have worked stroke and Parkinson’s patients. There are similarities I see in reading Dr. Jill Bolte Taylors “Stroke of insight”, and there is concern that autistics are more prone to Parkinsons. BUT, most importantly, you make reference to Teitelbaums work which I found profoundly true and informative. http://journal.frontiersin.org/article/10.3389/fnint.2015.00012/full Before Applied Behavioral Analysis became the be-all, end-all of autism, sensory disturbances were almost diagnostic.And then there is this: “All too often in the case of autism and other disorders of the nervous system the affected individual is treated in third person and dehumanized.” There are a couple of “World Autism Experts” that have made a comfortable living doing that. Sigh…

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Spectrum Wiki is a community of researchers affiliated with an academic or research institutions. To be considered for participation, please fill out this form and a member of our team will respond to your request.

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