Saturday 2 March 2019

"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]...


[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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