Tuesday, 19 September 2017

"a heightened co-occurrence rate of ASD [autism spectrum disorder] and GD [gender dysphoria]"

Gender dysphoria "where a person experiences discomfort or distress because there's a mismatch between their biological sex and gender identity" is something that has seemingly risen in research popularity in the context of autism (see here).

The findings reported by Janssen Aron and colleagues [1] (open-access available here) add to the body of research in this area where "endorsement of sex item 110, “wish to be opposite sex,” is 7.76 times more likely among participants with an ASD [autism spectrum disorder] diagnosis than in a nonreferred comparison group." 'Sex item 110' refers to a question item on the Child Behavior Checklist (CBCL) by the way.

Drawing on data derived from almost 500 participants diagnosed with an ASD and some 1600 responses to the CBCL from a 'normative sample', researchers inquired about possible gender variance. Importantly: "In the present study, all CBCL charts had been filled out by the patients' parents" so we need to bear in mind this was a study of proxy reporting albeit from those who probably know the participant pretty well. Researchers observed that some 5% of the ASD cohort "endorsed sex item 110" compared with about half a percent of the control group. Biological gender discussed in terms of 'natal gender' did not suggest that any one gender were more or less likely to endorse that CBCL question and age of participants similarly showed little impact on the endorsement of the questionnaire item.

The authors caution that response to one item on the CBCL does not a gender dysphoria diagnosis make. But they do suggest that further screening could be preferentially offered as and when either autism is diagnosed or indeed screening for autism/autistic traits when gender variance is encountered in the clinic minus any sweeping generalisations. One might also see a need for designing new questionnaires/schedules to specifically ascertain signs of gender dysphoria in cases of autism - indeed, as some have [2] - with a focus on both longitudinal research i.e. how might signs and symptoms change with age/maturation and also taking into account more direct reporting from participants themselves...

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[1] Janssen A. et al. Gender Variance Among Youth with Autism Spectrum Disorders: A Retrospective Chart Review. Transgend Health. 2016 Feb 1;1(1):63-68.

[2] George R. & Stokes MA. Gender identity and sexual orientation in autism spectrum disorder. Autism. 2017. Sept 15.

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Monday, 18 September 2017

Parent-mediated intervention for autism falls yet again

"We found minimal evidence for main effects of ART [Adapted Responsive Teaching] on child outcomes."

So said the study results reported by Linda Watson and colleagues [1] adding to a bank of studies (and meta-analyses) suggesting that parent delivered early behavioural interventions for autism or cases of 'at-risk for autism' in the most part are not seemingly cutting the scientific mustard (see here). I temper that last sentence with a number of caveats; not least that the methodological quality of the studies in this area still has some way to go and also that parent-mediated interventions covers quite a bit of ground in terms of techniques. The idea however that moves to make parents with children with autism some kind of 'super-parents' (yes, someone did use a term similar to that) to impact on their child's early presentation is not exactly borne out by the scientific data in this area. I would add that many parents of children with autism are already super-parents without any additional help, indications or guidance for the powers-that-be.

This time around nearly 90 young infants "at-risk of later ASD [autism spectrum disorder] diagnoses" were given either ART or REIM (referral to early intervention and monitoring) following other work from this authorship group on this topic [2]. ART by the way, focuses on 'relationships' over a 6 month period where aspects such as engagement, awareness and joint action between parent and child are some of the points of interest. Various facets of functioning were assessed and, assuming the equal use of other early intervention services between the groups, the time, effort and costs of ART did not seemingly provide some wildly significant gains when compared with REIM. In short, yes something like ART is a wonderful aid for things like increasing parental responsiveness to their kids but when it came to important child outcomes - including autism-related outcomes - the intervention did not seemingly fare so well.

What's more to say on this topic? Well, being careful not to hark back to the bad 'ole days where parenting behaviours were 'blamed' for the development of offspring autism, I'm not going to totally poo-poo this area of research and practice. There are some pretty good intervention strategies out there for helping parents to further *connect* with their children in the context of autism and potentially raising the potential and wellbeing of all parties concerned. My issue however is that moves to 'manualise' such interventions in the context of all autism (or rather all 'potential cases' of autism bearing in mind the use of the words 'at-risk') is not a great idea. As I've mentioned before in the context of the pluralised autisms, screening for things like inborn errors of metabolism potentially presenting with autism or autistic features seems a better first use of resources, assuming that underlying biological issues being associated with autism are probably not going to be that amenable to something like parent-mediated intervention or the like as per the example of something like phenylketonuria and autism (see here).

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[1] Watson LR. et al. Parent-Mediated Intervention for One-Year-Olds Screened as At-Risk for Autism Spectrum Disorder: A Randomized Controlled Trial. J Autism Dev Disord. 2017 Aug 31.

[2] Baranek GT. et al. Preliminary Efficacy of Adapted Responsive Teaching for Infants at Risk of Autism Spectrum Disorder in a Community Sample. Autism Research and Treatment. 2015: 386951.

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Saturday, 16 September 2017

Guess what? Gastrointestinal symptoms are prevalent in autism

The paper by Calliope Holingue and colleagues [1] provides brief blogging fodder today and a topic that has finally found its way into accepted peer-reviewed science when it comes to autism spectrum disorders (ASD): gastrointestinal (GI) issues are an often over-represented comorbidity when it comes to ASD.

Reviewing the peer-reviewed research literature on this topic, the authors concluded that there are some quite wide and sometimes disparate findings on the frequency of functional GI symptoms in the context of autism. Part of the reason for this is the lack of a standardised tool for looking at GI symptoms in relation to the label.

But: "The prevalence range for constipation was 4.3-45.5% (median 22%), for diarrhea was 2.3-75.6% (median 13.0%), and for any or more than one symptom was 4.2-96.8% (median 46.8%)." Median by the way, refers to the middle number (or in this case middle percentage) from the collected datasets and stresses that approaching half of all people on the autism spectrum may present with 'any or more than one' GI symptom of clinical relevance.

I've said it before and will say it again, there is guidance out there for the screening, diagnosis and management of bowel symptoms as and when they occur alongside a diagnosis of ASD [2]. We can um-and-ah about the cause(s) of such issues (stressing that the physiological is likely just as important as any psychological explanations) but at the end of the day, those diagnosed with autism and accompanying bowel issues - both functional and/or pathological - should receive the same care and management for their bowel issues as anyone else, save any further tragedies. Indeed, given the links being made between something like slow intestinal transit and autism for example (see here), preferential screening should perhaps be the order of the day before severe endpoints are reached (see here)...

To close, and not to make light of GI issues in relation to autism, a cautionary tale against 'throwing your poo(p) out of the window because it would not flush'???

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[1] Holingue C. et al. Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence. Autism Res. 2017 Aug 30.

[2] Buie T. et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 2010 Jan;125 Suppl 1:S1-18.

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Friday, 15 September 2017

"Children with autism spectrum disorder who improve with fever"

The title of this post mirrors that published by Rebecca Grzadzinski and colleagues [1] looking at an intriguing phenomenon whereby "some children with ASD [autism spectrum disorder] may show behavioral improvements during fever."

I had expected these results to be published given their appearance at this years IMFAR conference (see here) as one of my 'ones to watch' picks. Indeed, the results do not disappoint as the words 'discovery sample' and 'replication sample' are used as per other instances in the peer-reviewed research literature of this methodology (see here for example).

Drawing on data from the Simons Simplex Collection where over 1500 parents with children with autism were asked "whether and in which areas their child improved during fever", researchers randomly assigned participants to either the discovery or replication sample. They took various information - "demographics, medical history, ASD symptoms, adaptive skills, and presence of de novo ASD-associated mutations" - for each child and compared 'fever improvers' with 'fever non-improvers' across those measures for the discovery set.

Results: "Parent reports of 17% of children indicated improvements during fever across a range of domains." Some people might quibble with the reliance on parent report in this study but not me as per other work indicating 'sensitivity to an issue if not necessarily expertise' (see here). That almost a fifth of children with ASD might potentially show some clinical improvement during a fever episode is not to be sniffed at (see here) and hints that previous chatter about 'hot baths and autism' (see here) might not be just some odd idea (albeit with the requirement for further experimental study and with no endorsement from me).

Then: "Discovery and replication analyses revealed that the Improve Group had significantly lower non-verbal cognitive skills (NVIQ) and language levels and more repetitive behaviors." Such results, whilst requiring replication, hint at some interesting future studies to be done with certain parts of the autism spectrum. Lower NVIQ and language levels shouldn't however be just interpreted as just meaning those towards the more 'severe' end of the autism spectrum; even those with spoken language on the autism spectrum can be quite severely disabled by their autism.

"Understanding the profiles of children who improve during episodes of fever may provide insights into innovative treatments for ASD." I find myself in agreement with such sentiments, particularly when set in the context of possible "immunologic and neurobiological pathways, intracellular signaling, and synaptic plasticity" being potentially affected by fever onset [2] in the context of autism.

Music to close: Hüsker Dü - Makes No Sense At All (no reflection of the current research I might add).

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[1] Grzadzinski R. et al. Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection. Autism Res. 2017 Aug 31.

[2] Curran LK. et al. Behaviors Associated With Fever in Children With Autism Spectrum Disorders. Pediatrics. 2007; 120: e1386-92.

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Thursday, 14 September 2017

What nearly 1500 patients with ME/CFS actually think about CBT, GET and pacing therapy

Today I'm discussing the findings reported by Keith Geraghty and colleagues [1] (open-access might be available here).

Looking at some interesting data derived from a rather large patient survey, authors examined what people diagnosed with myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) actually thought about / experienced when it came to three intervention options: cognitive behavioural therapy (CBT), graded exercise therapy (GET) and pacing therapy (PT). A little bit of context about these interventions can be seen here including reference to some other peer-reviewed published work from members of this authorship group.

Based on the results of a survey offered by one of the premier UK organisations devoted to ME/CFS - certainly the one I tend to use when it comes to defining the spectrum that is ME/CFS - Geraghty et al add something to a body of research looking at the 'real world' impact (or not) of the various interventions currently advised for 'treating' CFS/ME (at least here in the UK). Their analyses suggested that: "While a small percentage of patients report some benefit from either CBT or GET, the majority experience no benefit." Even worse: "GET brings about a substantive deterioration in symptoms for almost half of patients"; something important to mention in the context of other, similar, intervention results being published earlier this year (see here).

At this point, I'll also refer you to other discussions of the Geraghty paper (see here).

Details are important to the Geraghty results. Including quite a sizeable cohort (N=1428) and asking over 200 questions "regarding treatment, particularly CBT, GET or PT", results were also compared against other patient survey results in the context of the intervention(s) being scrutinised. The combined results painted a similar sort of picture when it comes to experiences of the interventions insofar as "CBT brought about improvement in symptoms for approximately 35 per cent of respondents (65% unchanged/worse)" and "25 per cent of GET reported improvement in symptoms (17% unchanged/54% worse)." All this needs to be read in the context of the primary medical tenet: first, do not harm.

Geraghty et al acknowledge that there are limitations to their study results; not least that recall bias might be a potentially important issue and also that delivery of said interventions  might not have been carried out in "a uniform manner" (something also mentioned in the paper by Collin & Crawley [2]). With all due respect to the respondents, I might also add that independent confirmation of their diagnosis - knowing how important this - might also have provided some further methodological strength to the results too.

But in the context that patient surveys "offer a valuable insight into the ‘patient experience’" and how controversial some (all?) of these intervention options have been/continue to be in relation to CFS/ME (see here), these latest results represent an important research voice. They suggest yet again, that blanket recommendations for treating CFS/ME may have lots of potential effects (some positive but also quite a few negative) for many, many people diagnosed with such debilitating conditions. And once again, in the words of Jonathan Edwards [3] "If they [those diagnosed with ME/CFS] are still ill, presumably these approaches have failed and the priority is to find something more effective." Indeed (but don't hold your breath at least here in Blighty).

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[1] Geraghty K. et al. Myalgic encephalomyelitis/chronic fatigue syndrome patients' reports of symptom changes following cognitive behavioural therapy, graded exercise therapy and pacing treatments: Analysis of a primary survey compared with secondary surveys. J Health Psychol. 2017 Aug 1:1359105317726152.

[2] Collin SM. & Crawley E. Specialist treatment of chronic fatigue syndrome/ME: a cohort study among adult patients in England. BMC Health Serv Res. 2017 Jul 14;17(1):488.

[3] Edwards J. PACE team response shows a disregard for the principles of science. J Health Psychol. 2017 Aug;22(9):1155-1158.

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Wednesday, 13 September 2017

Autism portrayed in the movies: pleasing some of the people some of the time...

Things have come a long way since the first real mainstream appearance of autism on the silver screen (Rain Man). Nowadays, not a week seems to go by when autism doesn't feature in one form or another on a television show or new film/movie; even appearing in Sesame Street. I see this as a good thing when it comes to bringing autism further into the public psyche and hopefully preventing headlines such as 'Mother sent 'hurtful' letter about 'screechy' son with autism' from making many more appearances.

The downside however, is that with every representation of autism, there are typically comments galore about how autism is not being accurately portrayed or represented. A case in point is a new series called Atypical which has, according to one commentator, invited the same-old-same-old from some quarters (see here). Indeed, the old tenet: 'you can please some of the people some of the time, but not all of the people all of the time' seems to be tailor-made when it comes to views and opinions on the representation of autism on the screen.

It's timely that a new paper looking at the representation of autism in film and TV has also been published by Anders Nordahl-Hansen and colleagues [1]. Starting on the basis that: "Inaccurate portrayals [of autism] are a concern as they may lead to increased stereotypes toward the condition" authors concluded that many characters portraying autism seemed to "align unrealistically well with DSM-5 diagnostic criteria." They mention that those 'savant skills' (a.k.a 'a superpower') that every person with autism is supposed to have(!) were VERY well represented in the media content they surveyed. The authors go on to talk about the educational value of such portrayals and "the notion of authenticity in representing the autistic experience."

As I mentioned a few sentences back, I see autism appearing in more TV and films as a good thing. It makes an often invisible condition a lot more visible and helps to spread the idea that children/adults who were traditionally 'hidden away' deserve the same rights as anyone else. Insofar as the notion of 'authenticity' there have been quite a few, quite authentic portrayals of autism on TV shows. 'The A Word' was one of them (see here) (although I don't doubt some might disagree). Of course, there are always going to be creative processes acting on the fictional portrayal of autism; this goes for just about anything to do with creative media - soap operas do this all the time in the constant chase for viewer ratings. Indeed, one should never forget that TV shows and movies are in a constant state of chasing viewer ratings and not always necessarily produced with authenticity in mind.

In the context of autism also being an extremely heterogeneous condition (y'know, those 'autisms' that I keep going on about), I find it nigh on impossible that any single representation of autism is going to please all of the people all of the time. 'Authentic' is always going to be a matter of perspective...

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[1] Nordahl-Hansen A. et al. Mental health on screen: A DSM-5 dissection of portrayals of autism spectrum disorders in film and TV. Psychiatry Res. 2017. Aug 22.

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Tuesday, 12 September 2017

Facial phenotypes of autism continued

Quite a few years back, I talked on this blog about research suggesting that the structure of faces might be an important research area when it comes to at least some autism (see here). As per that blogging occasion, I cautioned that one has to be a little careful in this area of science so as not to make too many sweeping generalisations from any findings, but that there may some important *associations* to be noted. Such associations may, for example, be particularly important in the context of various genetic syndromes manifesting specific facial features as well as expressing autism or autistic traits.

In recent times I've noticed a couple of articles emerging on this topic from the University of Western Australia under the guidance of Prof. Andrew Whitehouse. Research from Prof. Whitehouse has been discussed before on this blog (see here and see here for examples) and I have to say I'm quite a fan of some of his, and his teams, efforts.

This time around I'm blogging about the papers by Maryam Boutrus and colleagues [1] and Diana Weiting Tan and colleagues [2] who talked about applying "a hypothesis-driven approach" to the study of facial phenotypes when it comes to autism and then offered up one such hypothesis: "comparing the facial masculinity/femininity of boys and girls with ASD [autism spectrum disorder] to that of typically-developing children" in the context of elevated prenatal testosterone exposure being *associated* with autism (albeit probably not universally so). I yet again hasten to add that the term 'typically-developing' is the authors' choice not mine.

The Tan paper talks about 3D imaging of faces from "a normative sample of 48 boys and 53 girls" which built up a kind of composite image to differentiate boy faces from girl faces. Some 21 facial landmarks were initially used but eventually this was boiled down into 11 selected facial features: "three linear distances (alar-base width, nose height and upper lip height) and eight geodesic distances (outer-canthal width, forehead width, forehead height, right upper cheek height, nasal tip protrusion, nose height, upper lip height, and nasal bridge length)."

The second part of the study then applied these 11 parameters deemed useful for differentiating "the faces of typically-developing boys and girls" and used them to compare faces of children diagnosed with ASD compared with those with no diagnosis - "54 autistic and 54 control boys... and also for 20 autistic and 60 control girls." This involved the application of "an overall facial masculinity/femininity index" providing a scale scoring between extreme masculinity and extreme femininity.

Results: "autistic boys had significantly lower gender scores for their faces (i.e., more masculine) when compared to the control boys." Also: "For girls, ANOVA showed that gender scores were significantly lower (i.e., less feminine) for the ASD group compared to the control group." These findings were accompanied by some equally interesting observations in relation to how the gender context of facial features seemed to tie into aspects of autistic presentation. Specifically: "increased facial masculinity in the ASD group correlated with more social-communication difficulties based on the Social Affect score derived from the Autism Diagnostic Observation Scale-Generic (ADOS-G)." No such relationship was reported in relation to the other part of the diagnostic dyad currently used to diagnose autism - Restricted and Repetitive Behaviours (RRBs).

Obviously, more needs to be done in this area. The sample size for both parts of the study reported by Tan et al is preliminary at best and replication is most definitely the name of the research game. I have to say that outside of the sexing/gendering of faces with autism in mind, I'm particularly interested in how facial masculinity might be linked to greater issues with social affect. One wonders whether this might for example, extend to the more general population and indeed, sub-clinical signs and symptoms of autism such as that noted in the broader autism phenotype (BAP)?

To close, although unrelated to the material covered today, facial phenotyping is starting to ask some other interesting questions too...

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[1] Boutrus M. et al. Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach. Autism Res. 2017 Aug 17.

[2] Tan DW. et al. Hypermasculinised facial morphology in boys and girls with Autism Spectrum Disorder and its association with symptomatology. Sci Rep. 2017; 7: 9348.

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