Showing posts with label International Classification of Functioning. Show all posts
Showing posts with label International Classification of Functioning. Show all posts

Wednesday, 9 November 2016

A 'frank' presentation of autism?

"Many individuals with ASD [autism spectrum disorder] have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD." So said the paper by Ashley de Marchena & Judith Miller [1] who carried out an "empirical study of frank ASD" and by the looks of my Twitter feed when I initially posted about this study, there are quite a few varied opinions about the concept of 'frank' autism.

Although 'frank autism' makes up a significant portion of the chatter about the de Marchena/Miller paper, the authors do provide an alternative description using the term "classic autism" and how "there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning." On that basis, they set about surveying just over 150 clinicians involved in the diagnostic assessment of autism/ASD using a "13-item questionnaire about frank ASD" and report results on just how many people in their cohort were familiar with this term, how widespread they thought it might be as well as how it might be comprised.

Results: "Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation." The sorts of behaviours respondents thought were most frequently associated with frank autism were things like eye contact issues, the "presence of motor mannerisms, and atypical gait or posture" and communicative styles. Surprisingly: "respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation." Ten minutes, eh?

"We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD" said the authors, as some important insights into clinical decisions about autism assessments are potentially revealed in this paper.

In line with the comments received about this paper on social media, there are a few things to note. First and foremost is the idea that clinicians might be pretty good at spotting [some] autism fairly quickly. I don't think this should surprise anyone given that autism is diagnosed by behaviour (and developmental history) and whilst nothing beats a comprehensive assessment, experienced clinicians are always going to have 'hunches' or mental tick-boxes based on their previous experiences of diagnosing autism (or not). I might add that one needs only read some of the literature behind the development of the ICF core sets for autism (which are due out in the not-so-distant-future) to see such expertise in action (see here).

But... experts whilst being experts aren't always correct as we've seen on other occasions when it comes to experts and autism screening/diagnosing (see here). There is also the suspicion that bias could be creeping into clinical decision-making too which could potentially affect diagnostic rates for specific groups for example (see here). Indeed, with all the changes being applied to some of the diagnostic criteria for autism as per the introduction of DSM-5, one wonders how such 'bias' is going to affect groupings such as the SCD 'catch-all' description (see here) for example?

I would also be a little concerned that behaviours "absent from diagnostic criteria (e.g., atypical gait or posture)" are being potentially used to form clinical opinions/decisions. Yes, I appreciate that motor issues - potentially linked to gait and posture - are in the ascendancy again when it comes to autism (see here for example) but in light of known comorbidity accompanying autism such as dyspraxia for example [2] I think we have to be quite cautious about the mindset being applied here and how comorbidity is potentially being grouped into core autism. I might also add that the growing interesting in tic disorder(s) being 'over-represented' in autism is something else that could potentially be affected by such 'frank' thinking (see here).

I'm a great believer in appropriate screening and detailed diagnostic assessment when it comes to autism on the basis of many variables, not least that autism rarely comes as a stand-alone diagnosis (see here) and that autistic traits are seemingly present across various other different labels too (see here and see here). Whilst it is not unexpected that those assessing and diagnosing day-after-day may build up a mental picture of what autism is (and isn't), there are cautions attached to the idea that clinical impressions are being formed seemingly so early during 'interaction or observation' and what this could mean for the heterogeneity of autism and the presentation of its important over-represented comorbidities.

Music to close and something a little relaxed to ease your 2016 worries: Erik Satie - Gymnopédie No.1.

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[1] de Marchena A. & Miller J. "Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder. Autism Res. 2016 Oct 21.

[2] MacNeil LK. & Mostofsky SH. Specificity of dyspraxia in children with autism. Neuropsychology. 2012 Mar;26(2):165-71.

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ResearchBlogging.org de Marchena, A., & Miller, J. (2016). “Frank” presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder Autism Research DOI: 10.1002/aur.1706

Wednesday, 29 April 2015

The International Classification of Functioning, Disability and Health (ICF) core sets for autism

"The International Classification of Functioning, Disability and Health (ICF) is a framework for describing and organising information on functioning and disability. It provides a standard language and a conceptual basis for the definition and measurement of health and disability."

That is the US CDC - Centers for Disease Control and Prevention - definition of the ICF (from WHO) and how, among other things, the ICF offers a "scientific basis for understanding and studying health and health-related states, outcomes, determinants, and changes in health status and functioning."

Bearing in the mind the utility of the ICF, one might start to appreciate how useful a schedule it might be if applied to autism. Say for example, you wanted to develop "useful standards for research and clinical practice and generating a common language for functioning and impairment in ASD in different areas of life and across the life span" [1]?

Well, the paper from Sven Bölte and colleagues [1] detailing the initial foray into developing "Comprehensive and Brief ICF Core Sets for ASD [autism spectrum disorder]" has now been joined by a further publication from Elles de Schipper and colleagues [2] (open-access here) adding further flesh to the scientific bones in applying the the ICF to autism. The de Schipper paper represents stage one of this four stage project - "a systematic review, an expert survey, a patient and caregiver qualitative study, and a clinical cross-sectional study" - and an initial look at "relevant functional ability and disability concepts" which could be mapped onto "the ICF-CY (Children and Youth version of the ICF, covering the life span)."

The de Schipper paper is open-access so it doesn't need any grand discussions from me. I will draw your attention to a few details however covering some idea of the size of the task facing researchers in this area: "The broad variety of ICF-CY categories identified in this study reflects the heterogeneity of functional differences found in ASD-both with respect to disability and exceptionality-and underlines the potential value of the ICF-CY as a framework to capture an individual's functioning in all dimensions of life." That also: "Twenty-two percent of the [autism relevant] concepts identified could not be linked to ICF-CY categories" means that the ICF-CY might not necessarily be as comprehensive as one would wish when [eventually] specifically applied to autism.

I am going to keep my eyes open for further developments of the ICF-CY with autism in mind. Assuming that this project gets it 'roughly right' when it comes to mapping the nature of autism onto the schedule, the potential benefits to autism research and practice are considerable when one takes into account ideas such as outcome and autism and its objective measurement including the analysis of things like daily living skills [3]. Move over Autism Impact Measure?

Music: Yeah Yeah Yeahs - Zero.

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[1] Bölte S. et al. Classification of functioning and impairment: the development of ICF core sets for autism spectrum disorder. Autism Res. 2014 Feb;7(1):167-72.

[2] de Schipper E. et al. Ability and Disability in Autism Spectrum Disorder: A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version. Autism Res. 2015 Mar 28.

[3] Bal VH. et al. Daily living skills in individuals with autism spectrum disorder from 2 to 21 years of age. Autism. 2015. April 28.

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ResearchBlogging.org de Schipper E, Lundequist A, Coghill D, de Vries PJ, Granlund M, Holtmann M, Jonsson U, Karande S, Robison JE, Shulman C, Singhal N, Tonge B, Wong VC, Zwaigenbaum L, & Bölte S (2015). Ability and Disability in Autism Spectrum Disorder: A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version. Autism research : official journal of the International Society for Autism Research PMID: 25820780