"Our findings beg the question, what is going on with these children who no longer have an ASD diagnosis?"

The quote heading this post - "Our findings beg the question, what is going on with these children who no longer have an ASD [autism spectrum disorder] diagnosis?" - comes from some media coverage of the findings reported by Lisa Shulman and colleagues [1]. Shulman et al (bravely) set about examining an important phenomenon in autism research and practice circles: those who were previously diagnosed as being autistic / having autism but at a later date 'no longer met the diagnostic criteria for autism'.

I've talked about these so-called 'optimal outcomers' quite a bit on this blog (see here and see here and see here for examples). I know such discussions aren't everyone's cup of tea, particularly those who see autism as so much more than a diagnostic label, perhaps akin to an identity. The fact of the matter is however that there is what I would call 'substantial evidence' in the peer-reviewed science domain and beyond that the idea that 'autism is a lifelong condition/disorder' does not necessarily cover the huge heterogeneity encompassed under the label autism. Some people, for whatever reasons, do not reach critical diagnostic cut-off points for autism on a lifelong basis.

So, what did Shulman and colleagues do and find? They reviewed the clinical records of over 500 children who were diagnosed with autism or autism spectrum disorder (ASD) at a specific clinic. Most were aged around 3 years old when first diagnosed and were followed up about 3-4 years later. Importantly most of the children participated in one or more intervention programs aimed at improving skills and the like and (hopefully) quality of life. Again, although not everyone's cup of tea, the words 'applied behavioural analysis' (ABA) are also mentioned as an intervention; something that has been discussed in the context of optimal outcome before (see here).

Shulman et al noted that 38 children, equating to around 7% of their group (38/569), "subsequently experienced resolution of ASD symptomatology and no longer met diagnostic criteria for ASD at follow-up." This figure (7%) is not a million miles away from other figures noted in other independent studies (see here and see here).

Further examination of records however revealed that not meeting diagnostic cut-off points for autism did not necessarily mean 'symptom-free' as various other symptoms/conditions were noted in about two-thirds of their 'optimal outcomers'. This included language disorders, attention-deficit hyperactivity disorder (ADHD) and even the signs and symptoms of psychosis in a few. Three of the 38 optimal outcome children were noted to be completely symptom-free (described as 'recovered from autism' with no other issues); something that has again been noted in other studies too (see here).

Then back to that quote titling this post: what is going on with these children who no longer have an ASD diagnosis? I'm sure some people will put it wholly down to initial misdiagnosis. Y'know, something along the lines of 'they weren't autistic in the first place' despite the fact that they previously met clinical cut-off points for a diagnosis. Minus sweeping generalisations, misdiagnosing autism is not something that can be completely taken off the table as per other examples in the peer-reviewed literature and beyond (see here and see here). Indeed, if one ventures down the pathway of misdiagnosis as accounting for results such as those by Shulman and colleagues, one must logically then assume that such misdiagnosis is pretty widespread (at least in 7-12% of cases of autism). Such a situation also plays into other ideas too; particularly how self-diagnosis of autism is even more dangerous than has been hitherto suggested (see here and see here) with regards to the risk of misdiagnosis.

Other people might talk about things like 'masking' as accounting for such optimal outcome, where symptoms are merely being consciously hidden by those with autism (see here). It's an important area of study by all means but seriously ask yourself the question: how likely is it that a 6 or 7-year old child would be able to mask some fundamental signs and symptoms of autism so as to mislead a professional clinician that they didn't have autism having previously met cut-off points? Adults, yes perhaps some (see here). But young children? Be honest now...

Personally, I'm inclined to believe that at least some of those optimal outcome cases are genuine. That is, children (and adults) did meet the diagnostic criteria and clinical cut-off points for autism (including the criteria about symptoms significantly affecting day-to-day life) and then for whatever reason(s) symptoms abated. Intervention certainly could have played a role, but I'm also inclined to believe that behavioural intervention in particular, does not have the power to render someone who was autistic to be not-autistic. I know some big claims have been made about certain interventions down the years, but I've seen little [longitudinal] convincing evidence in the peer-reviewed literature yet.

There must be other factors at work. There must, for example, be a biological element to this. And as one example, just head back to all those discussions about certain types of infection potentially *leading* to the presentation of autism or autistic traits (see here and see here) as a possible template, and the outcomes mentioned for some. One possibility at least.

Much like discussions on another sometimes contentious topic - regression and autism (see here and see here) - there's enough peer-reviewed science literature to suggest that optimal outcome (or however you want to describe such 'growing out of' issues) is a very real scenario for some. Not all, but for some. And so once again the call goes out to start studying the genetics and biology of these so-called optimal outcomers, and then ascertaining whether any findings might have some important implications more widely for the [plural] label of autism...

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[1] Shulman L. et al. When an Early Diagnosis of Autism Spectrum Disorder Resolves, What Remains? J Child Neurol. 2019 Mar 12:883073819834428.

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"Ashleigh's vision problems were misdiagnosed as autism"

The quote titling this post - "Ashleigh's vision problems were misdiagnosed as autism" - comes from a TV programme that was picked up by the BBC news website recently.

It continues a theme in recent times showing examples where autism has been seemingly 'misdiagnosed' (see here and see here) at the cost of other recognised medical conditions being present. Such misdiagnoses have many potential implications; not least for the various trends in some quarters to 'self-diagnose' autism or self-identify as autistic without any formal assessment seemingly being undertaken (see here and see here).

So what was the misdiagnosed condition this time around? Well, it's potentially an important one because is covers a topic rather salient to autism: vision and the processing of visual (sensory) information (see here for example). To quote: "After being misdiagnosed with Asperger syndrome, Ashleigh later found out that her behavioural problems actually came from Cerebral Visual Impairment (CVI)." When describing CVI, the key point I get from the descriptive literature is that vision is not just about the eyes but also what the brain does to/with the visual information collected through the eyes.

Aside from the label 'Asperger syndrome' disappearing from diagnostic texts and discussions for various reasons (see here and see here), a quick glance at some of the information on CVI reveals that the potential misdiagnosis of autism when CVI was present is not something entirely new (see here). To quote from the RNIB (Royal National Institute for the Blind) website here in Blighty: "Many of the standard special needs assessments generally fail to identify children with CVI. If anything there is a danger that they may be misdiagnosed as possibly having autistic spectrum condition, due to some of the characteristics being shared. Not being able to maintain eye contact or respond to facial expressions, may be due to poor contrast sensitivity or to the part of the brain that recognises facial expressions being impaired." They don't however discount the idea that CVI and autism can co-occur - "Of course CVI and autism can co-exist" - something that an expert I mentioned this study to confirmed and something noted in the peer-reviewed science literature [1] too. But misdiagnosis is also a potential risk.

I'm not going to say too much more on this topic aside from reiterating an oft-mentioned phrase on this blog: the diagnosis of autism should be a starting point for further investigations and not the finishing line. I appreciate that to many people - individuals and their parents/caregivers - the time and effort spent actually getting and going through assessment and diagnosis of autism feels like it should be the finishing line (see here). But please, don't stop there. Keep questioning and importantly, keep screening, and screening for lots of different things. As per the example of Ashleigh, there may be lots more to see (pardon the pun) and in some cases, potentially novel and important 'intervention' avenues to consider to improve quality of life [2]...

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[1] Bosch DG. et al. Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. Clin Dysmorphol. 2015 Jan;24(1):34-7.

[2] Bartel T. Mystery solved: Our son's autism and extreme self-injury is genetic and treatable. Am J Med Genet A. 2017 May;173(5):1190-1193.

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Paediatric Acute-onset Neuropsychiatric Syndrome (PANDAS) misdiagnosed as autism: some implications

Credit: BBC Website 25 January 2019

The BBC website recently ran with an interesting story headed under the title: "Mother's appeal after boy diagnosed with autism when he just needed antibiotics." It was an interesting piece that drew attention once again to an increasingly important condition known as Paediatric Acute-onset Neuropsychiatric Syndrome (PANDAS) also called PANS.

Classically triggered by Streptococcal infections, PANDAS/PANS is typically characterised by quite an abrupt change in behaviour to include things like "clinically significant obsessions, compulsions and/or tics" alongside things like anxiety, sensory issues, aggression and a corresponding loss of academic abilities. Treatment is often multi-disciplinary; but in the most part intervention includes the use of various types of antibiotics clinically indicated to treat strep infections. This also follows a wider research-based thread suggesting that strep infections *might* have some important links to various neuropsychiatric conditions (see here).

The BBC piece specifically focused on how the young boy highlighted was "repeatedly diagnosed as having autism and severe anxiety" and how following a PANDAS diagnosis, and after just two days of antibiotic treatment, the mother of the young boy "felt like Jack was back." I'll also mention that the mum of Jack was herself a medic, a psychiatrist, and so was perhaps more attuned than most people about clinical diagnoses like autism and anxiety. It also emphasises how she kept on questioning...

Mention of the label autism in the BBC story got me thinking about quite a few things. Although still relatively sparse, there are some isolated reports in the peer-reviewed science literature observing that something like PANDAS/PANS can be "misdiagnosed as autism spectrum disorder" [1] in some circumstances. Such a notion complements some still emerging views that: (i) there may be many different routes to a diagnosis of autism (pertinent to the notion of 'the autisms'), (ii) autism is not universally an inborn genetic condition/state/diagnosis present from birth or early infancy, and (iii) autism for some people, is not necessarily a lifelong condition or label or state. Having discussed those views quite a bit on this blog (see here and see here and see here respectively) and noted some 'resistance' in some quarters to them, it is important that stories such as the one about Jack are continually highlighted. Not least because for him at least, his mother's determination and tenacity ultimately led to a new [accurate] diagnosis and subsequent treatment tailored to his particular circumstances. I daresay that other children (and even adults) who perhaps share Jack's clinical picture remain undiagnosed and untreated out there; something which represents a significant health inequality for them and their families. I might also add that the autism-anxiety diagnostic mix discussed in the BBC piece also complements the idea that the word 'comorbidity' may not be entirely accurate for the experience of [some] anxiety in the context of [some] autism (see here).

Jack's story begs the question: just how many people have been diagnosed with autism yet are 'suffering' with undiagnosed PANDAS/PANS? There's a research study there for someone brave enough there; alongside further study on whether elucidating the mechanisms of PANDAS/PANS when seemingly mimicking the signs and symptoms of autism & anxiety *could* be beneficial for at least some other parts of the wider autism spectrum...

Continue questioning and continue investigating seem to be the key lessons, as once again we are reminded that a diagnosis of autism should be a starting point and not 'the finishing line'.

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[1] Goncalves MVM. et al. Pediatric acute-onset neuropsychiatric syndrome (PANS) misdiagnosed as autism spectrum disorder. Immunol Lett. 2018 Nov;203:52-53.

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Autism diagnoses (and diagnostic stability) in Germany

"From 2006 to 2012, the prevalence of autism spectrum disorder diagnoses in 0- to 24-year-olds increased from 0.22% to 0.38%."

That was one of the details included in the rather interesting paper by Christian Bachmann and colleagues [1] who provided some introductory information on the the trends in autism diagnoses in Germany. I say 'introductory information' because it appears that autism or autism spectrum disorder (ASD) has not exactly received the research attention in Germany that it perhaps has in other similarly developed nations such as the United States or here in Blighty. Indeed, as Bachmann et al note: "Due to the only available study to date, the prevalence of ASD in Germany is estimated to be about 0.25% in 0- to 24-year-olds in 2009" and even that was taken from another study by the author [2].

This time around, the authors listed two primary aims for their research: (a) "to establish the time trends in the administrative prevalence of autism spectrum disorder diagnoses" and (b) "to assess the stability of autism spectrum disorder diagnoses over time." I'm interested in both these areas on this blog (see here for example). Data for the time trends part of this research came from "the German statutory health insurance company Allgemeine Ortskrankenkassen (AOK) from the years 2006 to 2012" where a diagnosis of ASD was registered by ICD-10 definition. Data for the stability side of their research was via a "cohort with a first-time diagnosis of autism spectrum disorder in 2007 through 2012, investigating the percentage of retained autism spectrum disorder diagnoses."

Results: well as per the opening sentence to this post, the only way is up when it comes to the estimated prevalence of autism or ASD despite the figures being a tad lower than those for other countries. Those percentages were based on nearly 15,000 ASD diagnoses being recorded in 2006 out of 6.9 million insurees, and nearly 22,000 ASD diagnoses in 2012 out of 6.4 million insurees. Males were quite a bit more likely to be diagnosed with autism/ASD and prevalence peaked for the age group 6-11 year olds.

Then to that stability part of the study and from "3927 patients (mean age: 8.7 years, 68.9% males)" with a specific ASD diagnosis in 2007 only a third 'carried on' with a specific diagnosis by 2012. The authors note: "This figure is lower than the usual persistence for ASD diagnoses, which is about 73%–100%." Lower? Yes, I'd say. The reasons for this quite notable lack of diagnostic stability? Well, the authors note that there is probably going to be more than one (before anyone makes any sweeping generalisations). They talk about the lack of "specialised mental health services that are competent to diagnose ASD according to international standards and guidelines" as one factor. They talk about diagnoses "often made by paediatricians or occupational therapists, without employing diagnostic gold standards like Autism Diagnostic Observation Schedule (ADOS)." They even talk about diagnostic switching between ASD subgroups as potentially also being a factor to consider. And then another possibility: "Other reasons include improvement of symptoms because of successful therapeutic interventions" without any specific mention of what types of therapeutic intervention might be involved. Sounds very 'optimal outcome' to me (see here). In short, it's probably going to be complicated.

Bearing in mind those diagnostic stability figures and the authors reliance on a database that relied on those unstable figures for prevalence estimates, this is interesting research. It shows that even a social and economic powerhouse like Germany still has some way to go in many areas not least with that related to autism. Where next? Well, as per the authors suggestion: "one possible option could be to establish standardised diagnostic algorithms and certify ASD diagnostic centres who employ these standards." Sounds good but in amongst the chatter about autism 'misdiagnosis' and seemingly 'ill-trained' professionals diagnosing, I do wonder whether further, more detailed, investigations are needed on the autism diagnostic stability figures of Germany and whether it's all just due to administrative errors...

Music to close, and this guy was/is apparently quite big in Germany...  Permit denied!

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[1] Bachmann CJ. et al. Diagnoses of autism spectrum disorders in Germany: Time trends in administrative prevalence and diagnostic stability. Autism. 2016. Dec 20.

[2] Bachmann CJ. et al. Psychopharmacological treatment in children and adolescents with autism spectrum disorders in Germany. Res Dev Disabil. 2013 Sep;34(9):2551-63.

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Christian J Bachmann, Bettina Gerste, & Falk Hoffmann (2016). Diagnoses of autism spectrum disorders in Germany: Time trends in administrative prevalence and diagnostic stability Autism: International Journal of Research & Practice : 10.1177/1362361316673977

Feigning ADHD?

Feign: "to pretend to feel or be affected by (something)."

I tread very carefully today with this post based on the findings reported by Paul Marshall and colleagues [1] who concluded that: "a significant percentage of those making a suspect effort will be diagnosed with ADHD [attention-deficit hyperactivity disorder] using the most commonly employed assessment methods."

Their findings, based on the examination of "how many adult patients would plausibly receive a diagnosis of attention-deficit/hyperactivity disorder (ADHD) if performance and symptom validity measures were not administered during neuropsychological evaluations" highlights something of a worrying situation involving the 'faking' or 'feigning' of the symptoms of ADHD.

Why would anyone want to do such a thing, you might ask? Well, accessing some of the treatments of choice (stimulants) is one possibility entertained in other peer-reviewed literature [2] in light of their potential nootropic effects but doubtless there are probably other reasons too including the possibility of receiving various academic accommodations as a result of diagnosis.

Marshall et al describe results based on the comparison of data between 102 participants quite comprehensively diagnosed with ADHD and 115 who "were identified as putting forth suspect effort in accordance with the Slick, Sherman, and Iverson (1999) criteria." The criteria by Slick et al by the way, represents an attempt to "define psychometric, behavioral, and collateral data indicative of possible, probable, and definite malingering of cognitive dysfunction." Marshall and colleagues reported that it was pretty difficult to distinguish between "suspect effort and ADHD groups" and that quite a bit more needs to be done to separate feigned and real symptoms/participants.

As other commentators have noted (see here) the relative ease that the symptoms of ADHD can be 'faked' during assessment is a worry particularly in light of the ballooning prevalence figures for the condition (see here). The prospect of diagnosing conditions such as ADHD on the basis of current behaviour, neuropsychological test functioning and/or developmental history without any objective biological or genetic test is an important reason why the label is potentially open to mis-use and abuse. One might even argue that the changes to the diagnostic criteria for ADHD in DSM-5 for example (see here) are only likely to make matters worse.

As with other instances where symptoms or illness is feigned or faked, it is the people who genuinely present with ADHD or related hyperkinetic disorders who ultimately suffer as a result of such actions. Not only because their diagnosis and symptoms may be spuriously called into question (people so love to generalise) but also because research looking to discover the cause(s) or ways to intervene in ADHD may also be potentially tarnished as a result of the inclusion of such fakers and their data in the science. Indeed, one could argue that where instances of feigning illness are detected, and relevant reasons for such faking are excluded, one might consider this type of fraud the same as any other type of fraud...

Music: Faith No More - Epic. More bands should dance with boxing gloves don't you think?

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[1] Marshall PS. et al. The Impact of Failing to Identify Suspect Effort in Patients Undergoing Adult Attention-Deficit/Hyperactivity Disorder (ADHD) Assessment. Psychol Assess. 2016 Jan 11.

[2] Sansone RA. & Sansone LA. Faking Attention Deficit Hyperactivity Disorder. Innovations in Clinical Neuroscience. 2011;8(8):10-13.

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Marshall PS, Hoelzle JB, Heyerdahl D, & Nelson NW (2016). The Impact of Failing to Identify Suspect Effort in Patients Undergoing Adult Attention-Deficit/Hyperactivity Disorder (ADHD) Assessment. Psychological assessment PMID: 26751085

Late, delayed and mis-diagnosis of autism

It's inevitable that with all the mountains of autism research published on a daily basis, certain themes will occur at certain times. My post today is reflective of one of those themes and how, on occasion, the autism diagnostic process does not run as smoothly as we would all like to think.

I start this post with a link to an article discussing some forthcoming research to be published titled: 'The autistic pupils ‘traumatised’ by delayed diagnosis'. Describing the results of a survey of parents included as part of a scheme of work (see here) where experiences of the diagnostic process were gauged, researchers reported that over half of parents were "unhappy with the diagnostic process" for their children. The observation that children were waiting an average of 3.5 years from initial contact with healthcare professionals to final receipt of a diagnosis is a pretty eye-watering statistic too, albeit a step up from previous research in this area [1].

Next up is the paper from Davidovitch and colleagues [2] reporting that: "Subsequent late diagnosis of ASD [autism spectrum disorder] after an initial ASD-negative comprehensive assessment is a common clinical experience." Based on an: "Extensive chart review of patients' electronic medical records" from "a representative population-based registry of patients seen during 2004 to 2011" researchers reported that over 200 children were diagnosed with an ASD after their 6th birthday "although their initial comprehensive developmental evaluations before the age of 6 were negative for ASD." The authors discuss possible reasons for the reversal of diagnosis including "evolving diagnosis as well as missed and overdiagnosed cases of ASD."

Finally, is the paper from Aggarwal & Angus [3] with the conclusion: "ASDs can go undetected during childhood and these clients can sometimes present during adolescence to mental health services for a psychiatric comorbidity." This followed their experiences of a diagnosis of autism being potentially missed or masked during childhood, only to be picked up during adolescence when a referral was made "for a psychiatric comorbidity."

Taken as a collection, these articles/features reiterate that the diagnosis and diagnostic process of autism is often a very complicated thing even before one starts to talk about politics, the availability of resources to undertake such a task and on occasion, actually getting someone to take notice of the need for a referral (see here). I've talked before on this blog about the various factors than can influence the age of autism diagnosis (see here) stressing for example, the fluidity in behavioural expression particularly during the early years (see here) and even into adulthood (see here). Outside of the idea that there may be a number of diverse developmental trajectories when it comes to autism (see here) impacting on presentation, including the idea of regression potentially being present for some (see here), even the most seasoned autism professionals are not error-free when it comes to something like autism screening and diagnosis (see here).

Insofar as the Aggarwal/Angus results, and the idea that the label of autism may only come to diagnostic attention when other psychiatric comorbidity lead, this is something discussed previously on this blog (see here and see here). The overlap between the autism and for example, the schizophrenia spectrums (see here) is an area crying out for further research attention and how intersecting with the idea of ESSENCE in autism (lots of different labels/symptoms potentially following a diagnosis of autism), symptom masking can be a real issues (see here). That also goes for the potential appearance of autism in other conditions such as Down's syndrome for example (see here).

With the growing tide of research suggesting that early (sometimes very early) intervention may be able to make a real impact on the course of autism for some (see here and see here), late, delayed or even mis-diagnosis should be viewed not only as a source of significant stress for those on the autism spectrum and their loved ones, but also as an area of vital importance to autism research on the ways and means of minimising such issues.

[Update: 25 March 2015: The paper from Crane and colleagues [4] has been published. The full-text is available here.]

Music then. I've probably linked to this before but here is Blondie and One Way Or Another.

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[1] Howlin P. & Asgharian A. The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families. Dev Med Child Neurol. 1999 Dec;41(12):834-9.

[2] Davidovitch M. et al. Late Diagnosis of Autism Spectrum Disorder After Initial Negative Assessment by a Multidisciplinary Team. J Dev Behav Pediatr. 2015 Feb 2.

[3] Aggarwal S. & Angus B. Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents. Australas Psychiatry. 2015 Feb 4. pii: 1039856214568214.

[4] Crane L. et al. Experiences of autism diagnosis: A survey of over 1000 parents in the United Kingdom. Autism. 2015. March 25.

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Davidovitch M, Levit-Binnun N, Golan D, & Manning-Courtney P (2015). Late Diagnosis of Autism Spectrum Disorder After Initial Negative Assessment by a Multidisciplinary Team. Journal of developmental and behavioral pediatrics : JDBP PMID: 25651066



Aggarwal S, & Angus B (2015). Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents. Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists PMID: 25653302