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Two steps forward, one step back

21 May

Good News: British groups supporting unorthodox biomedical approaches to autism are distancing themselves from theories attributing autism to vaccines.

Bad News: These groups are still promoting treatments – such as stem cell therapies – for which there is no coherent scientific rationale and no good evidence of efficacy or safety.

Treating Autism, with an address in Bow, East London, and the Autism Treatment Trust, based in Edinburgh, have circulated ‘advocates and organisations involved in the care of patients with Autism Spectrum Disorder’ with a package including a (curiously anonymous) ‘scientific review’ entitled Medical Comorbidities in Autism Spectrum Disorder, a flyer for a conference in Edinburgh in June entitled Changing the Course of Autism: The Science and Intervention, and a complimentary copy of The Autism Revolution: Whole Body Strategies for Making Life All It Can Be, by the American paediatric neurologist Martha Herbert.

The most striking – and most welcome – feature of this package is that it contains no mention of the cause with which both these groups have been most closely associated over the past decade – the campaign claiming a link between childhood immunisations, particularly MMR, and autism. Bill Welsh, former property developer and president of the ATT and of its predecessor Action Against Autism, has been a leading figure in the anti-vaccine campaign in Scotland since 1998. Wakefield himself was a platform speaker at Treating Autism’s first two conferences, in 2007 and 2009, and TA members were prominent in the protests in support of Wakefield outside the GMC when he was struck off the medical register in 2010.

In relation to the current TA/ATT package, MMR is, like the dog that did not bark in the night, significant in its absence.It might be too much to expect that these groups would acknowledge the harm that the anti-MMR campaign has caused to families affected by autism (particularly in encouraging so many into the futile and demoralising litigation) and to child health more widely (confirmed by the recent measles outbreaks).Yet, on a more positive note, Martha Herbert, the keynote speaker at the forthcoming Edinburgh conference, makes the forthright declaration – ‘I strongly encourage vaccination’- in her book (The Autism Revolution, p103). This is progress indeed.

The TA/ATT focus on ‘medical co-morbidities’ – conditions, such as sleep disorders, gastro-intestinal disturbances and epilepsy, that may co-exist with autism – is also a welcome and timely initiative. The ‘scientific review’ draws attention to a number of recent studies that reveal the unsatisfactory standards of medical care experienced by people on the autistic spectrum, highlighting inadequacies in relation to examination, investigation and treatment. It is unfortunate that this review appears to rely largely on North American, Australian or even Middle Eastern sources, and appears to be unaware of the extensive work – both in terms of research and advocacy – carried out by Mencap and others in the UK, in relation to the wider population of people with learning disabilities. This work has been summarised in the Confidential Inquiry into Premature Deaths of People with Learning Disabilities, http://www.bris.ac.uk/cipold/fullfinalreport.pdf.

It is also unfortunate that the discussion of co-morbidities has a perfunctory character in the TA/ATT review, being largely confined to a brief introduction. The question of medical co-morbidities is subsequently conflated with a quite distinct issue – the author’s claim that recent studies confirm a ‘paradigm shift in our understanding of ASD’. From this perspective autism is ‘now increasingly recognised as a whole body disorder, with the core deficits in communication, social interaction, restrictive/stereotypic behaviours that have been attributed to ASD, being surface manifestations of a systemic and complex disease process’. In fact, this is not a new ‘paradigm’, and nor is it ‘increasingly recognised’. It is the familiar dogma promoted by the ‘unorthodox biomedical’ fringe associated since the early 1990s with the (now defunct) Defeat Autism Now! group in the USA. (For an account of the emergence of this movement from the ‘metabolic psychiatry’ of the 1960s, and its incorporation of biochemical and immunological theories in the 1970s and 1980s, see my books, MMR and Autism: What Parents Need To Knowand Defeating Autism: A Damaging Delusion.) The TA/ATT review includes a plethora of references to recent studies claiming to confirm ‘earlier findings of widespread biomedical abnormalities in autism’. On past experience, these claims, based on preliminary laboratory studies or small scale – and often poorly constructed – clinical trials, will turn out to be of dubious significance.

Though the TA/ATT review includes little commentary on interventions, it resorts to selective quotation of mainstream academic sources to provide legitimacy for interventions favoured by unorthodox biomedical practitioners, notably exclusion diets. For example, in relation to the gluten-free, casein-free diet the author cites a recent authoritative Cochrane systematic review in the following terms: ‘from the existing trial evidence it concluded that “the diet poses no disbenefit or harm” [emphasis in original], and it identified positive effects of this diet relating to improvement in overall autistic traits, social isolation, and overall ability to communicate and interact (Millward et al., 2008)’. This is a significant distortion and misrepresentation of the Cochrane review (http://www.ncbi.nlm.nih.gov/pubmed/18425890).This review does not contain the sentence quoted, but in the discussion section it comments, in relation to two major studies of the GFCF diet (Knivsberg, 2003, Elder et al,2006), that ‘neither study reported disbenefits including harms and costs of these diets’. The statement presented by the TA/ATT review as the judgement of the Cochrane authors is in fact their (critical) description of the Knivsberg and Elder papers. The Cochrane authors’ categorical conclusion is that ‘we cannot recommend these diets as standard treatments’. Not only is this ignored by the TA/ATT review, it is immediately contradicted by an endorsement of the GFCF diet by Paul Whiteley and Paul Shattock, Britain’s leading advocates of this diet (and of the wider unorthodox biomedical campaign) over the past 20 years.

The TA/ATT offers several highlighted quotations from the recent ‘consensus report on the evaluation, diagnosis and treatment of gastro-intestinal disorders in individuals with ASD’, produced by of the American Academy of Paediatrics. (See: http://www.ncbi.nlm.nih.gov/pubmed/20048083) Yet it neglects prominent statements from this report which contradict the approach recommended by the TA/ATT review. For example, echoing the Cochrane review, the AAP concludes that ‘available research data do not support the use of a casein-free diet, a gluten-free diet, or combined gluten-free, casein-free diet as a primary treatment for individuals with ASDs.’ Furthermore, it dismisses the sorts of claim made by the TA/ATT review for the significance of various immunological and microbiological factors in relation to autism:

‘A direct cause-and-effect relationship between immune dysfunction and autism has yet to be proven.’

‘The role of gut flora in the pathogenesis of gastro-intestinal disorders in individuals with autism is not well understood.’

The TA/ATT review presents a dozen brief case histories to illustrate its claims – and to demonstrate a 100% success rate from the interventions it recommends. Given the lack of clinical detail – or any information about how these cases were selected – it is impossible to offer any evaluation. However, it is worth noting that in eight of the 12 cases, improvement appeared to follow treatment with antibiotics. The AAP consensus statement observes that ‘it should be noted that empirical antibiotic and antifungal therapy in patients with ASD is not recommended.’

The programme for the Edinburgh conference includes only one speaker on the question of co-morbidities – Dr Daniel Goyal. He is also scheduled to advise attenders on ‘How to Approach Your GP and Paediatrician’. This seems a bold enterprise for a doctor who is qualified as neither a GP nor a paediatrician and whose main experience is in occupational health. His experience in relation to autism appears to have been acquired entirely in private practice, at the Breakspear Clinic in Hertfordshire (recently sanctioned by the GMC over chelation treatment) and at his own Sincere Health ‘nutritional and environmental medicine’ clinic in Harley Street. It is striking that the TA/ATT approach cannot attract the support of a single paediatrician, paediatric gastroenterologist, child psychiatrist or autism specialist working in the National Health Service in the UK.

The most worrying feature of the Edinburgh conference is the prominent place on the platform allotted to Drs Nicola Antonucci and Dario Siniscalco (who are scheduled to give three talks in the course of the weekend). Antonucci, a psychiatrist who acquired training in DAN! therapies in the USA, has teamed up with Siniscalco, formerly a pain researcher with a background in chemistry and pharmacology, to provide stem cell therapy for children with autism at a clinic in Bari in southern Italy. The pseudoscience behind this treatment, now available in the Ukraine, Costa Rica, Mexico, Panama and China as well as Italy (but illegal in the USA and the UK) is discussed in Defeating Autism (pp 114-115). At last year’s Treating Autism conference in London, stem cell therapy was promoted by Dr Jeffrey Bradstreet, a Florida preacher and vitamin salesman and former colleague of Andrew Wakefield, who was severely chastised for his role as both expert witness and treating physician in the ‘omnibus autism proceedings’ in the USA in 2009. (See:http://www.spiked-online.com/site/article/6283/) It is alarming to discover that Antonucci and Siniscalco have collaborated with Bradstreet in various publications.

Whatever my reservations about Martha Herbert’s misanthropic evangelical environmentalism (see Defeating Autism, pp19-22), she offers sound counsel against the use of some of the more dangerous therapies currently popular in the unorthodox biomedical world, notably hyperbaric oxygen and heavy metal chelation. I hope that she will take advantage of her place on the Edinburgh platform to remind attendees (and fellow speakers) of this judgement from her book:

‘Stem cell therapy is an example of a treatment that does not make biological sense to me for autism, is wildly expensive (in part because it’s not legal in the United States), has made some kids whom I know worse, and carries a high risk of danger. I would avoid it.’ (The Autism Revolution, p65)

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Michael Fitzpatrick 21 May 2013

It’s DSM 5 day

18 May

Yes, the day has arrived that the DSM 5 (the Diagnostic and Statistical manual) is released by the American Psychiatric Association. The DSM codifies the traits which make up, among many other things, an autism diagnosis. There was a great deal of controversy of the past few years about the way the DSM would handle autism. A major change was to move away from the “spectrum” of autism disorders (ASD) to a single autism diagnosis with a severity scale. Since eligibility for services is often tied to an autism diagnosis–such as insurance, special education and state disability services–many groups were concerned that the new DSM would leave specific groups out. One can find discussions of how those with Asperger syndrome will not be included in the new autism, how those with intellectual disability will not be included and how those with PDD-NOS will not be included.

Yesterday, Molecular Autism included three papers on the DSM 5.

The first introduces the other two: DSM-5: the debate continues by Fred R Volkmar and Brian Reichow.

Here is the abstract (full text free online):

We are fortunate to have invited commentaries from the laboratories of Dr Cathy Lord and Dr Fred Volkmar offering their perspectives on the new Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria for the autism spectrum. Both Lord and Volkmar are world-leaders in autism and in the autism phenotype and both have been very involved in the DSM: Volkmar was the primary author of the DSM-IV Autism and Pervasive Developmental Disorders section, and Lord has been equally active in the Neurodevelopmental Disorders Workgroup of DSM-5. As such, there are none more qualified to comment on what has been potentially gained or lost in the transition from the fourth edition to the fifth edition of this bible of psychiatric classification and diagnosis.

The first contributed paper is Autism in DSM-5: progress and challenges

Here is the abstract (and full text is available free online):

BACKGROUND:
Since Kanner’s first description of autism there have been a number of changes in approaches to diagnosis with certain key continuities . Since the Fourth edition of the Diagnostic and Statistical Manual (DSM-IV) appeared in 1994 there has been an explosion in research publications. The advent of changes in DSM-5 presents some important moves forward as well as some potential challenges.

METHODS:
The various relevant studies are summarized.

RESULTS:
If research diagnostic instruments are available, many (but not all) cases with a DSM-IV diagnosis of autism continue to have this diagnosis. The overall efficiency of this system falls if only one source of information is available and, particularly, if the criteria are used outside the research context. The impact is probably greatest among the most cognitively able cases and those with less classic autism presentations.

CONCLUSIONS:
Significant discontinuities in diagnostic practice raise significant problems for both research and clinical services. For DSM-5, the impact of these changes remains unclear.

The second contributed paper is DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes by Rebecca Grzadzinski, Marisela Huerta and Catherine Lord.

The abstract is below and the full text is online.

The heterogeneity in the clinical presentations of individuals with autism spectrum disorders (ASDs) poses a significant challenge for sample characterization and limits the interpretability and replicability of research studies. The Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) diagnostic criteria for ASD, with its dimensional approach, may be a useful framework to increase the homogeneity of research samples. In this review, we summarize the revisions to the diagnostic criteria for ASD, briefly highlight the literature supporting these changes, and illustrate how DSM-5 can improve sample characterization and provide opportunities for researchers to identify possible subtypes within ASD.

The DSM 5 is big news, and relatively big business. As discussed on the American Public Media program Marketplace, the DSM has a major effect on how insurance companies reimburse for various treatments–if you don’t have the diagnosis, you may not get reimbursed for the treatment. Also, the DSM 5 itself makes the APA a significant amount of money, raising questions about whether the DSM was pushed forward too soon (hence the title of the Marketplace spot: How much is the DSM-5 worth?)

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By Matt Carey

Comment on: A Danish population-based twin study on autism spectrum disorders.

12 May

There has been much discussion of twin studies in autism research for a long time. The reason is that if is found that “identical” (monozygotic) twins are often both autistic, that points to genetics as a major influence on the development of autism. For many years it was thought that this rate, the concordance, was about 90%. In other words, if one child is autistic, 90% of the time the other child is autistic. This was based on a number of older, small studies. More recently, a relatively large study showed a lower concordance: about 77% for ASD and 60% for autism. From this the authors claimed that the genetic contribution to autism risk was lower than previously thought, and that the environmental contribution was higher (about 55% environmental contribution).

A study just out from Denmark claims a concordance more in line with the older studies–95%. In A Danish population-based twin study on autism spectrum disorders., the authors write:

Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the “Child Behaviour Checklist” (CBCL) were used in the first screening phase, while screening in the second phase included the “Social and Communication Questionnaire” and the “Autism Spectrum Screening Questionnaire”. The final clinical assessment was based on “gold standard” diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.

This study is relatively small with only 13 “identical” twin pairs. Also, the concordance for “fraternal” (dizygotic) twins is relatively low at 4.3%. Sibling concordance is estimated at about 20%, so 4.3% raises a bit of a red flag. Of course the recent larger twin study is not without some controversy itself.

In the end, I doubt this new study will have much influence on the online parent community discussions (which are in themselves far from the most productive or important discussions on the topic. Just the apparently most vocal). We are left with there being some genetic contribution and some environmental contribution to autism risk. In other words, it remains important to put effort into both areas of research.

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By Matt Carey

IMFAR study: No Differences in Early Immunization Rates Among Children with Typical Development and Autism Spectrum Disorders

3 May

IMFAR, the International Meeting For Autism Research, is going on this week.  In preparation for the meeting, I posted the titles of a number of studies being presented.  The full abstracts are now available.  One might venture to guess that for a segment of the online parent community, this study (sadly) may get the most attention: No Differences in Early Immunization Rates Among Children with Typical Development and Autism Spectrum Disorders

It is not one of the very large population based epidemiological studies which have many thousands of participants.  But it is a good sized study with confirmed diagnoses.

As the abstract states, the difference immunization rates is not significant, with the autistic kids rate reported as slightly lower. One child was unimmunized, and that child is autistic.

One vaccine with significantly different uptake rates is the Hepatitis B vaccine, with autistic kids receiving this at a lower rate than the typically developing kids.  The HepB vaccine is one that gets a great deal of focus by those claiming vaccines causes an autism epidemic, with claims of much higher autism risk among those vaccinated with HepB. If this were true, one would expect the autistic group to show a higher uptake of this vaccine.

All in all, as the authors note, this is not a study about causation but the results do not lend support to the idea that vaccines are associated with higher autism risk. The study was undertaken by the MIND Institute, which is generally respected by the groups who promote the idea that vaccines are associated with autism.

K. Angkustsiri1,2, D. D. Li3 and R. Hansen2,4, (1)UC Davis MIND Institute, Sacramento, CA, (2)UC Davis Medical Center, Sacramento, CA, (3)M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA, (4)The M.I.N.D. Institute, University of California, Davis, Sacramento, CA

Background: The relationship between vaccines and autism spectrum disorders (ASD) has been of great interest to families and health providers.

Objectives: This study compares the immunization practices of preschoolers with ASD and typical development (TD).

Methods: Immunization records were abstracted from 240 (161 ASD, 79 TD) children between the ages of 24.1-54.4 months participating in the Autism Phenome Project from April 2006 to August 2011. Seventy-eight percent were male. We compared immunization rates for the vaccines required by the State of California for children ages 18 months to 5 years (3 doses of Hep B, 4 DTAP, 4 Hib, 4 PCV, 3 IPV, and 1 MMR). Of note, there was a national HIB vaccine shortage from 2007-2009. Varicella was not included due to the possibility of naturally acquired immunity. 

Results: Immunization rates in ASD children were slightly lower than in TD (see Table 1), but this difference was not statistically significant, with the exception of Hep B, where 91.3% of children with ASD had received 3 doses compared to 98.7% of TD (p=0.024). These rates were at or above those reported in the 2011 National Immunization Survey (NIS). One (0.6%) ASD child had not received any immunizations. The national rate for children who received no immunizations was 0.8%. 

Conclusions: Despite the lack of evidence supporting any causal relation of vaccines to ASD (IOM, 2011) many parents remain concerned and some choose to delay or avoid vaccines. Immunization rates in preschoolers with ASD in our sample were generally lower than TD, although there were no statistically significant differences except for Hep B.  Our study, although not designed to specifically address a causal relationship, does not support an association between vaccines and ASD. In most cases, these immunization practices represent behavior during the first 18 months of life prior to receiving an ASD diagnosis. Further study looking at differences in vaccine acceptance during the 4-6 year booster period is warranted, as having an ASD diagnosis may affect parents’ attitudes towards future immunization.

ASD (n=161) TD (n=79) p-value 2011 NIS
Hep B 147 (91.3%) 78 (98.7%) 0.024 91.1%
DTAP 150 (93.2%) 78 (98.7%) 0.110 84.6%
Hib 107 (66.5%) 48 (60.8%) 0.386 shortage 2007-09
PCV 134 (83.2%) 66 (83.5%) 0.128 84.4%
IPV 149 (92.5%) 78 (98.7%) 0.066 93.9%
MMR 151 (93.8%) 75 (94.9%) 0.99 91.6%

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By Matt Carey

Autism Science Foundation hosts live chat with David Amaral and Jill Locke tomorrow (Friday)

19 Apr

The Autism Science Foundation hosts live chats on Fridays during April. Tomorrow they will have chats with David Amaral (of the U.C. Davis MIND Institute) at 12noon eastern time and Jill Locke (of U Penn) at 2pm eastern time. The chats can be found at the ASF website.

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By Matt Carey

Autism reported at 1 in 50, but some parents no longer report their child is autistic. Can we say why?

16 Apr

A recent study reported that 1 in 50 children in the U.S. are autistic. This is based on parent report via a telephone survey, the National Survey of Children’s Health. The recent survey was taken in 2011-12. The last time a NSCH was performed was in 2007, and when those results were released in 2009 as Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007, a great deal of attention was focused primarily on two outcomes. First, the estimated parent-reported prevalence of ASD was about 1.1%. Second, about 0.5% of parents reported that they had been told that their child was autistic at some time in the past, but that their child was no longer autistic.

The report that came out recently presented a new parent-reported prevalence estimate: 1 in 50. (Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 2011–2012). That report did not go into details about those who were no longer reported as autistic by their parents. The question was asked–as were many follow up questions.

The question and some of the responses are:

Does [the child] currently have autism or autism spectrum disorder?

No: 0.36%
yes: 1.70%
Don’t know: 0.08%

So, out of a total of a raw (uncorrected) 2.1% of parents who responded that they were told at some point that their child was autistic at some point, 0.36% said their child was no longer autistic. That’s comparable to the previous report in absolute terms (about 0.4%).

As already noted, they asked follow up questions to those who answered “no”. They asked directly “To the best of your knowledge, did [your child] ever have autism or autism spectrum disorder?”.

Of those 0.36% whose child had “lost” their diagnosis at some point, 0.24% of parents reported “No”. I.e. the parents reported that they were told that their child was autistic in the past, but out of those parents 2/3 reported that their child was never autistic. A further 0.02% said they “don’t know” if their child was ever autistic.

to put another way, in the majority of cases where a parent-reported “ever had” been told their child was autistic, the same parent reported that the child was never autistic or they didn’t know.

If you are looking for evidence of recovery, 0.07% parents said that “Treatment helped the condition go away”. Another way to look at this: that’s 69 reports out of “treatment helped the condition go away” out of 2041 who reported they had ever been told their child was autistic (ASD). That’s about 3.4% of the total “ever had ASD” population.

The survey did not ask what specific therapies parents thought helped their children go from autistic to non-autistic. They did ask if, “The condition seemed to go away on its own.” (37 parents answered yes, about 1/2 of the number who said treatment helped). 81 parents reported “The behaviors or symptoms changed” 46 reported “A doctor or health care provider changed the diagnosis.”

Out of the total 0.36% (343) reports of no to “Does [the child] currently have autism or autism spectrum disorder?”, 102 said that “The diagnosis was given so that [the child] could receive needed services” and 122 said “You disagree with the doctor or other health provider about his or her opinion that [the child] had autism or autism spectrum disorder.”

The National Survey of Children’s Health is not just about autism. Which means they can’t spend all their time on autism questions. This time they have answered some of the questions raised by the idea that a sizable fraction of parents who are ever told their child is autistic later conclude their child is not. That fraction where parents report that treament was part of what “made the condition go away” is nonzero, but at about 3.4%, it is small enough that getting accurate information on what the parents thought was involved will be difficult. And it should be about 3-4 years before we get another NSCH survey report.

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By Matt Carey

Stephen Bustin: Why There Is no Link Between Measles Virus and Autism

9 Apr

Andrew Wakefield promoted the idea that the MMR vaccine caused autism. While his now-retracted 1997 Lancet paper is most often discussed, the strongest evidence he had actually came in later work where his team reported that they found evidence of the vaccine strain of the measles virus in the intestinal tissues of autistic children. The team used a methodology called Polymerase chain reaction (PCR). PCR amplifies a specific fragment of DNA, allowing one to identify if small amounts of that gene are present in larger samples. PCR tests were performed by John O’Leary in Dublin. As revealed later, Andrew Wakefield had a business stake in this laboratory.

As part of the MMR litigation in the UK, the vaccine manufacturers hired Stephen Bustin to review the methods and results of the O’Leary laboratory. Those results were not made public, but Prof. Bustin later was called in to testify in the U.S. Autism Omnibus Proceeding (the vaccine court). That testimony was discussed here at LeftBrain/RightBrain and elsewhere. Prof. Bustin is one of the world’s experts on PCR.

Prof. Bustin has now written his own account of the history of the measles-virus/autism work by Mr. Wakefield’s team in Why There Is no Link Between Measles Virus and Autism. The full report is free, open access. The report discusses what he already disclosed in his testimony: the multiple failures which resulted in the reporting of a false association of measles virus and autism.

Some of those failures include:

Absence of transparency: the key publication shows no data; hence an expert reader cannot evaluate the reliability of its conclusions

Unreliable techniques and protocols: analysis of the qPCR data was incorrect

Disregard for controls: obvious evidence of extensive contamination was disregarded

Lack of reproducibility: the data could not be duplicated by several independent investigators

One key failure involved skipping key steps in using PCR on measles virus. The measles virus is an RNA virus. PCR is very inefficient at detecting RNA, so a step called reverse transcriptase is used to convert the RNA to DNA before PCR (RT-PCR). The O’Leary lab did not perform this step. This result, and others, show that the samples used by Mr. Wakefield’s team were contaminated. Prof. Bustin goes into detail and covers more important topics, and as the paper is relatively short, it is worth a read for those interested in the science.

Prof. Bustin concludes:

As a result, the conclusions put forward by this [the Wakefield/O'Leary] paper are entirely incorrect and there is no evidence whatever for the presence either of MeV genomic RNA or mRNA in the GI tracts of any of the patients investigated during the course of the studies reported by O’Leary et al. Instead, it is clear that the data support the opposite conclusion: there is no evidence for any MeV being present in the majority of patients’ analysed. Unfortunately, the authors do not report whether any the patients had received the MMR vaccination. However, assuming that a significant proportion had done so, it is also clear that there is no link between the MMR vaccine and the presence of MeV in the intestine of autistic children.

The Wakefield MMR hypothesis is already failed, so this does not really change the conversation. What this report by Prof. Bustin does is document his own observations, measurements and analyses for the historical record so we can see just how bad the science was that promoted the Wakefield hypothesis.

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By Matt Carey

IMFAR program is now online

4 Apr

IMFAR, the International Meeting for Autism Research, is held in the spring of each year. Which makes me wonder, did the people who organized this have to go through IEP meetings? I ask because IEP meetings are often are held at the end of the school year and include a lot of evaluations, making it difficult for a parent to attend a Spring research meeting? It isn’t a parent conference, so this is really just an observation.

IMFAR is the top science conference for autism. It is big and it is where a lot of new work is presented. The meeting will be held in May and the abstracts will be available May 1st. But the program, meaning the titles of the talks, are available now. I’ve just done a little browsing and found some talks which are likely to spark conversations. These may not be the talks which reflect the research most likely to impact the lives of autistics and the broader autism communities, but I suspect these will be interesting to the online parent community. For example, one doesn’t need the abstract to get the conclusion of this talk: No Differences in Early Immunization Rates Among Children with Typical Development and Autism Spectrum Disorders. This paper is by the U.C. Davis MIND Institute, which carries a lot of weight with the groups who promote the vaccine-induced autism-epidemic idea, so perhaps this will help to move the discussion forward from the vaccine-focus of the past decade. One can hope.

On the first day, a keynote talk is being held: How Severe Is Autism – Really?

This session reviews the coexisting problems that usually exist in individuals with a diagnosis of autism spectrum disorder. It concludes on the note that it is possibly these associated problems and disorders that often drive the poor outcome that so many people now almost take for granted will be a consequence of autism in the longer term perspective. Language disorders, intellectual developmental disorders, non-verbal learning disability, epilepsy, medical disorders such as tuberous sclerosis and fragile X syndrome, ADHD, and depression are often the “real” cause of negative outcome in autism. Many people in the general population have marked autistic features without major “lifetime impairment”. The focus on *autism only* in early intervention programs is most likely a mistake.

And you probably thought when I said there would be talks which would likely “spark conversations” online, I was just talking epidemiology and etiology.

A recent paper proposed a correlation between a mother’s childhood history of abuse and autism risk in her children. (Emily Willingham discusses this study at Forbes). It appears the same team has a poster at IMFAR: Maternal Exposure to Childhood Abuse Is Associated with Elevated Risk of Autism. A big open question from that work is this: are autistics more likely to be abused as children? Which could make the link heritable. Which makes it interesting that this poster is in the same session at IMFAR:Epidemiology of Neglect and Maltreatment in Children with Autism Spectrum Disorders

There is an entire session on the ethical questions posed by biomarker research.

While the development of a blood biomarker as a screening or diagnostic tool for autism spectrum disorders is of great interest to the scientific and medical communities, it is also attracting intense scrutiny from other stakeholders including people with autism, ethicists, and parents. This symposium will therefore address the scientific, ethical and social challenges associated with the development of biomarkers for autism, and provide an update on the current status of research in this field. We will describe how the heterogeneity of autism, gender bias, and potential comorbidities, could derail the promise of identifying objective, reliable, and universally accepted biomarkers. We will consider the ethical and social issues relating to the development of biomarkers for autism in order to identify and describe the implications for the ‘difference versus disability’ debate; as well as consider possible wider tensions of biomarker research in relation to issues such as pre-natal screening and reproductive choice, and identity and inclusion for individuals on the autistic spectrum. Finally, we will summarize the most promising research on blood biomarkers for autism, describing the required steps to take a putative biomarker from the ‘bench to the bedside’. This educational symposium brings together researchers from scientific, ethical and psychological disciplines to provide a unique perspective on the utility of biomarkers for ascertaining autism risk, aiding in diagnosis and identifying therapeutic targets, all within the framework of the relevant ethical and social considerations.

Here’s the sort of research I wish were the sort to “spark conversations”. Adaptive Intervention For Communication In Minimally Verbal School Aged Children. That is a study I really want to see. Likewise, I am pleased to see an entire session on Young Children, Schools. And Adults, Lifespan, Methods. And services.

Terry Brugha, who headed up the U.K.’s adult autism prevalence studies of recent years will present: The Autism Epidemic Hypothesis: the Association of Autism With Age in the General Population.

There is a large international focus, with research from India, China, South America and other areas usually under represented in research. Another keynote talk discusses this in terms of epidemiology: The Epidemiology of Autism Spectrum Disorder: Toward a More Inclusive World:

We live in an era of exciting advances in our awareness and understanding of autism spectrum disorder, but also a time of enormous global imbalance. Most of what is known about the epidemiology, genetics, clinical manifestation and course, treatment, and nearly every other aspect of autism is based on research in high income countries, where fewer than 10% of births occur and less than 20% of the population lives globally. This talk will describe opportunities to expand the horizons of autism epidemiology and service delivery to include the 80 to 90% of affected individuals and families who live in low and middle income countries, as well as those who are socioeconomically disadvantaged and living in high income countries. It will also describe some of the cultural and financial barriers to progress, and make a case for incorporating concepts of the World Health Organization’s International Classification of Disability and Functioning into the classification and epidemiology of autism spectrum disorder, with the ultimate goals to include not only primary prevention of autism but also enhancement of participation and social inclusion of people with autism spectrum disorder.

One session is: 30-Year Follow-Up of Autism in Adulthood.

The population of adults with ASD is increasing rapidly, entering systems of healthcare and adult support that are already at capacity. Understanding the nature of ASD in adults, their unique needs, and availability of service options, is essential for resource planning and service development. Investigations into this period of life are increasing, but much remains unknown. This study examines adult outcomes for a large, population-based sample of adults identified as children in the 1980′s. Outcomes of interest concern diagnostic presentation, functional abilities, co-occurring medical and psychiatric conditions, social functioning, independence, service use, and access to services. Overall, outcomes for this sample were consistent with what has been reported for similar samples, yet there were notable differences in factors contributing to outcomes compared to what has been reported for other groups. Our findings support the importance of a range of accessible healthcare and support service options for adults with ASD. Detailed analyses are underway to investigate patterns leading to specific outcomes for subgroups of the population of adults with ASD.

I would have written that abstract a bit differently, but I am very appreciative that this session is being held.

Two years ago, I was able to attend IMFAR with the help of an Autism Science Foundation grant. I really wish I was able to attend this one. There looks to be a great deal of interesting research being discussed.

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By Matt Carey

Autism Rate 2%, what now?

25 Mar

Autism prevalence data are always news makers. Although, maybe it’s just me, but the announcement of a new autism prevalence estimate for the U.S. didn’t seem to be as big a news story as previous reports. That said, so much of the discussion around prevalence estimates centers on “what does this tell us about the past” or “what about the future”.

“What does this tell us about the past” is the discussion around “was there/is there an epidemic (usually with an explicit or implicit reference to vaccines)”. “What about the future” is usually a discussion focused on the economic burden and what happens in we project the trends out to the future.

But what about right now? We have roughly 2% of our school age children in the U.S. who are autistic. Disabled to various degrees. Probably a like number of adults as well. For those who don’t accept this notion, keep in mind that one of the major themes of the recent report was how a large fraction of autistics were identified late. They had fallen through the cracks and were possibly not receiving the supports they needed. We are talking teenagers, not just young children. It isn’t that great a leap to say that we there is a large population of unidentified autistic adults.

Most news stories and most discussion will focus on one number: 2%. I would argue, and will argue, that a factor of at least equal importance is not how many autistics there are, but how diverse this population is and how little is really known.

There is no biological test for autism. As this study and many others have shown, the understanding of what autism is, even behaviorally, is still evolving. And this is important whether you take a medical model of autism or a disability model or some combination of the two.

We (a society of autistic and non-autistic people) need to give autistics the tools and supports needed to succeed in this world, with various definitions of success. And we can’t do that if we don’t understand what is needed. 2% is a number that can grab people’s attention. And that includes politicians. But to me, the bigger issue is the breadth of the spectrum. The diversity of the autistic population. Consider the report again. There are so many ways to look at the data, but let me pick some facts to highlight. The prevalence estimate for 10-13 year olds was about 2.4%. Of this, roughly half fall into the so-called “mild” autism category. Only 5% of parents placed their child into the “severe” category. Of course, there is no real definition of mild, moderate, or severe to use for this, and parents might be biased to report milder needs, but let’s go with the structure we are given. But, in the end, 1%, 5%, 95%, is less important than the fact that there are subpopulations of autistics which needs a very different support structure than others.

Many people discussing the new prevalence values focus on the need to have the money to provide supports (be it in the home, the school or the workplace, medical or non-medical) for a wide variety of autistics. But in order to do that, we have to know what supports and tools are needed. I know this is getting repetitive, but no amount of money can give autistics, parents, teachers, caregivers and employers the tools needed if we don’t know what the appropriate tools are.

There is a broad spectrum of autism, and a broad spectrum of ages. Perhaps the most overlooked area of autism, be it research or supports and services, are the needs of adults. Many parents tend to categorize autism by IQ, with a linear spectrum with those with lower IQ’s on one side and those with higher IQ’s on the other. Even with this simple model, we have a huge matrix of needs for autistics: with age on one axis, and IQ on another. But the IQ-category idea is too simplistic. Which means, the real matrix of needs we have to understand is multidimensional.

Ask someone outside the community who has a basic understanding of the autism discussion, “what should we do for autistics?” and you are likely to get, “behavioral intervention”. OK, for some fraction of a young population, that may be a good answer. Maybe, one might argue, truly individualized education plans (IEP) will allow parents and teachers to customize supports for the needs of the autistic during school. That’s how it is supposed to work, but this process would be much more efficient if we had better recommendations for autistic students of all ages.

It is worth taking a moment here to point out that here is a point where more money directly into services is needed. Mention special education to a school administer and you are likely to hear “unfunded mandate”, “budget”, and “encroachment”. We in the U.S. have never lived up to our responsibility to support special education as promised from a federal level (federal special education support is less than 1/2 what was promised). And it isn’t like state and local governments are supporting special education to the levels needed.

But that’s just school. What about transition to adulthood? Thank god for people like Paul Shattuck who has been asking these questions, but this study only came out last year. And adulthood and autism has recently been referred to as “the great unknown” in one paper.

And medical issues? These get a lot of discussion, especially in online parent forums. Ask what medical conditions are more common in autistics and you will likely hear, “GI complaints”, “immune dysfunction”, “metabolic dysfunction”. Anyone want to venture a guess as to what are, by far, the most common comorbid conditions to autism in children? Neurological disorders and mental health conditions. Autistics are 25 times more likely to have one or both of these. And what happens in older populations? Another “great unknown”.

So, yes, 2% is big. And it’s important. And it will get people’s attention. But if we don’t know what tools or how to support any given segment of the population, it’s just saying how many people we can’t support.

Of course we need to take autism seriously. It doesn’t matter if 2%, 0.2% or 0.02% of the population are autistic, it is still important. But we need to recognize that there are whole areas of questions we haven’t even asked yet, much less found good answers for. It is hard to package this essage into a sound bite, but the focus needs to be on the breadth of the questions, not just te size of the population.

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By Matt Carey

CDC-HRSA report: Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 2011–2012

20 Mar

A new report came out today: Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 2011–2012. I’ll come back for more detail and discussion soon, but the bottom line: the autism prevalence estimate for the US is now about 2%. 3.23% for boys.

Here is the press release for this:

CDC and HRSA issue report on changes in prevalence of parent-reported

Autism Spectrum Disorder in school-aged children

Who: CDC’s National Center for Health Statistics and the Health Resources and Services Administration

What: “Changes in Prevalence of Parent-Reported Autism Spectrum Disorder in School-Aged Children: 2007 to 2011-2012.”

The report was co-authored by HRSA and data collection was conducted by the CDC. The data come from the National Survey of Children’s Health, a nationally representative phone survey of households with children. This survey is conducted every four years.

Main findings of the report:

· The prevalence of parent-reported ASD among children aged 6-17 years was 2 percent in 2011-2012 compared to 1.2 percent in 2007.

· The change in prevalence estimates was greatest for boys and for adolescents aged 14 to 17 years.

· Children who were first diagnosed in or after 2008 were more likely to have milder ASD than those diagnosed in or before 2007.

· Much of the increase in the prevalence estimates from 2007 to 2011-2012 for school-aged children was the result of diagnoses of children with previously unrecognized ASD.

The report is available at http://www.cdc.gov/nchs.

For information about HRSA’s autism efforts visit http://mchb.hrsa.gov/programs/autism/index.html.

For information about CDC’s autism efforts visit http://www.cdc.gov/ncbddd/autism/index.html.

As indicated above, there are clearly social factors at play involving identification of individuals previously unidentified. For example: If one looks at the prevalence estimate for 6-9 year olds in 2007, a value of 1.31% was obtained. In 2010-11, the prevalence for children born in the same years (now aged 10-13 years old) is 2.39%. In other words, children born in the years 1998-2001 saw an big increase in the estimated autism prevalence.

For the 2010-11 report, about 1/3 of the children were diagnosed after 2008. These are children 6-17 years old, so they were born in 2005 and before. About 30% of children born in 1998-2001 were diagnosed after 2008. These are children aged 7-13.

And, yes, this means that the thimerosal hypothesis, the notion that the increased exposure to thimerosal from vaccines in the 1990′s cause an autism-epidemic, is even less viable. There are obviously a number of social influences behind the increase in autism prevalence estimates in the U.S.. These could mask a “real” increase (or, interestingly, a real decrease). But had thimerosal been a primary driver of the increased prevalence, the prevalence would be dropping. The prevalence for children 6-9 years old, children born after the phase out of thimerosal, now is estimated at 1.82%.

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By Matt Carey

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