"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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"Hyperopia, astigmatism, and strabismus seem to be independently associated with ADHD"

The findings reported by Charlotte Reimelt and colleagues [1] provide the brief blogging fodder today and the observation that following their analysis: "all examined forms of refractive error and strabismus showed an association with ADHD [attention-deficit hyperactivity disorder]."

Refractive error (e.g. near and far sightedness) and strabismus (squint) are not uncommon eye/vision issues among the general population. I've previously talked on this blog about such issues being potentially over-represented among certain diagnostic labels (see here) but up until now I don't think I've talked about such issues with ADHD in mind. I have discussed visual impairment and ADHD (see here) but not these specific eye issues.

Drawing on data derived from "the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) study (N = 13,488)", researchers observed "an increased risk for ADHD in children with hyperopia, astigmatism, and strabismus compared with the control group." They also make a case for further research in this area.

Obviously the oft-used tenet 'correlation is not the same as causation' comes into play here. It means that we have to be quite careful not to say that such eye/visions are a *cause* of ADHD or vice-verse because that has not been proven by such data. The Reimelt findings do however imply that preferential screening for such eye conditions when a diagnosis of ADHD is received might be a good idea. They also imply that preferential screening for ADHD and/or related behavioural issues, might also be a good idea as and when such eye/vision conditions are also detected.

So, Merry Christmas and as is typical, Kirsty MacColl and The Pogues. And just in case you thought 'drunk tanks' were a thing of the past, think again...

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[1] Reimelt C. et al. The Underestimated Role of Refractive Error (Hyperopia, Myopia, and Astigmatism) and Strabismus in Children With ADHD. J Atten Disord. 2018 Oct 29:1087054718808599.

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Rare genetic condition manifesting as autism and its management

"We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion."

That was the starting point of the article published by Cora Cravero and colleagues [1] (open-access available here). Researchers describe in some detail how a diagnosis of autism spectrum disorder (ASD) was made "on communication and social interaction impairments and restricted, repetitive patterns of behaviour and interests" and what followed: "The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression."

Detailing how "comparative genomic hybridization array identified a de novo 1.4 Mb microdeletion of chromosome 1q21.3" and various associated physiological findings, the Cravero report provides some rather intriguing evidence that the sentence 'science does not know what causes autism' might not necessarily ring true for everyone (see here for other examples). As the authors note: "The 1q21.3 microdeletion seems associated with ID [intellectual disability], dysmorphic features, and early SIB [self-injurious behaviour] and can be a cause of syndromic autism."

One or two particular details are noteworthy in the Cravero findings outside of the idea that the N=1 might be an important concept in relation to the autism spectrum.

First, is the quite extreme effects that self-injurious behaviour (SIB) in the context of autism can have on a person. This child was blinded by their extreme SIB: "intense and repeated mutilations of cheekbones and eyes, culminating in a bilateral blindness at the age of 4 years by intumescent white cataract after numerous surgical complications." As I've mentioned before on this blog, SIB can in some cases lead to some very complicated adverse health outcomes (see here) that are not uncommon to the autism spectrum (see here). There is however a brighter note to add to the SIB experienced by this child as the authors noted that a range of interventions seemed to help alleviate some of the challenging behaviours linked to such actions. I note for example that naltrexone - the opiate antagonist - was utilised to "decrease the endorphin sensation seeking procured by SIB and diminish SIB." This follows something of a resurgence in interest in this medicine (see here) and is music to my own research ears (see here).

Second, is a little detail mentioned about the eating habits of this child: "a diet almost exclusively made up of dairy products." Alongside some accompanying details on how "intestinal transit was altered, with episodes of diarrhoea (false constipation), encopresis, and coprophagia" and I'll just say that this is something I've heard quite a bit down my years of autism research. Alongside the use of lactulose to aid the bowel issues and the anti-opioid effect of naltrexone (yes, the protein in dairy products does break down into opioid-like compounds), I'm wondering whether some of the research I've been involved with down the years looking at casein-free diets might also be relevant too (see here)?

Finally, I need to draw your attention to the increasingly popular idea that regression is a part of quite a few cases of autism (see here). Indeed the pattern of autism + ID particularly being over-represented when it comes to regression in the context of autism (see here) seems to be borne out by the case report detailed by Cravero et al.

It is good to hear that after "a year of hospitalization" the outcomes reported on this child were quite a bit more favourable than where he began. So: "His mood was stable, without tantrums or irritability, and he felt pleasure without crippling stereotypes. The SIB were limited to small low intensity fists against his helmet or his cheekbone, occurring from time to time." Further: "During the best of times he wandered half-days without helmet, smiling and exploring his environment using tactile gestures."

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[1] Cravero C. et al. Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness. Case Rep Psychiatry. 2017;2017:7582780.

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Autism and visual impairment reviewed

Of the various autism science journals out there in peer-reviewed (La-La!) land, one journal in particular is really starting to grow on me: [The] Review Journal of Autism and Developmental Disorders.

I like this journal because it is basically systematic review and meta-analysis heaven when it comes to the quite voluminous autism research literature and seems to publish some real gems (see here for example).

Another paper from this journal caught my eye recently by Maggie Butchart and colleagues [1] (open-access) synthesising the collected research on "the prevalence of visual impairments in children and adults with Autism Spectrum Disorder (ASD), and the similar behavioural traits associated with both visual impairment and autism." Affiliated with the RNIB - Royal National Institute of Blind People - Scotland among other groups, the authors trawled the research literature looking at reported visual impairments in relation to the autism spectrum and provide quite a nice overview of 'where we're at' with regards to "papers published from 2000-2015."

The paper is open-access but a few comments are required bearing in mind my relative lack of knowledge on the complexities of visual impairments.

First: "Collating the evidence from six of the seven prevalence studies suggests a refractive error rate in the childhood ASD population studied at 22.9–32.7%, which is comparable with general childhood refractive error rates in 6–7 year olds at 29%, and 32.3% in 12–13 year olds." What this means is that a diagnosis of autism does not protect against the presence of refractive errors ('when the shape of the eye prevents light from focusing directly on the retina').

Second: "Estimates of childhood strabismus in the UK is 1.5 to 5.3%... but in the evidence collated in this review, the incidence of strabismus amongst autistic participants is higher at 8.3%." Strabismus, where the eyes don't align properly, seems to be a little bit more prevalent when it comes to autism compared with general population statistics. This is a topic that I've talked about before on this blog in relation to correcting such an issue with autism in mind (see here).

Finally: "There were no studies examining ophthalmic conditions and adult autistic populations who are more at risk of age-related visual impairments." Bearing in mind the search parameters included in the Butchart paper, I'm kinda dismayed that this is the current state of affairs. You'd have thought with all the money and resources being thrown into autism research that someone, somewhere might have thought more about eye health in adults with autism? Eye-tracking, reading the mind in the eyes test... the word 'eye' or 'eyes' is prominent in autism research but just not in relation to eye health it seems. And bear in mind that issues with eye health probably will affect the results of some of those autism 'eye' studies.

Eye or vision issues related to autism have often been a topic of discussion on this blog (see here and see here for examples) and so I'm glad that someone has finally brought a review of this area into the peer-reviewed arena. Screening is important; even if some of those on the autism spectrum may not always be by first sight (pardon the pun) particularly amenable to taking part in an eye exam - adjustments can and should be made.

And finally consider this: "Undiagnosed visual impairment is likely to severely impact quality of life. There is a need therefore for education and training that equip autism support practitioners with the awareness and skills to identify potential visual impairment, to refer individuals to optometry professionals if necessary, and to make necessary adjustments to service environments and support practices for individuals identified as having a visual impairment." Not much more to say really is there aside from 'make it so'.

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[1] Butchart M. et al. Autism and Visual Impairment: a Review of the Literature. Review Journal of Autism and Developmental Disorders. 2017. Jan 5.

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Butchart, M., Long, J., Brown, M., McMillan, A., Bain, J., & Karatzias, T. (2017). Autism and Visual Impairment: a Review of the Literature Review Journal of Autism and Developmental Disorders DOI: 10.1007/s40489-016-0101-1

Correcting ophthalmic problems in autism

'Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder?' went the title of the paper by Pinar Ozer and colleagues [1]. Yes, it may very well do was the answer (but with certain caveats and the requirement for a lot more research in this area).

Strabismus, a condition where the eyes don't line up in the same direction, can sometime have some quite noticeable effects on a person's vision and indeed, has been linked to various other non-vision related symptoms and outcomes.

Ozer et al looked to identify "the impact of optical or surgical correction of the strabismus on the child using a questionnaire for parents." The published research of this team has been previously discussed on this blog (see here) with ophthalmic findings in mind, and the requirement for quite a few more resources to be put into eye examinations when autism is diagnosed (see here). This time around they were discussing what happens when such eye issues are resolved.

I'm not completely convinced that the Ozer findings this time around reporting 'significant improvements' in areas of "psychosocial interactions" is as it stands, a methodologically firm finding just pertinent to autism. Although no expert on strabismus, from what I gather, the 'cosmetic' side of the condition can have some far-reaching effects on 'psychosocial' functions. I daresay that such effects would be just as prevalent in autism as they are in the general population and hence, correction would likely have similar outcomes.

I am more open to the idea that if strabismus is affecting vision, as in causing something like blurred or double vision, correction of the issue may in some cases have some important 'effects' in relation to autism. Accepting that structural issues with the eye are not necessarily the same as or causative of visual perceptual issues that seem to crop up quite often in the autism research arena, it is not outside the realms of possibility that something like strabismus could be part and parcel of visual effects for some people.

I suppose to reiterate, screening for structural eye/vision issues when it comes to autism remains a pretty important area.

To close, karate gradings for one of my brood today and this is what they will be attempting...

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[1] Ozer PA. et al. Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists. Semin Ophthalmol. 2016 Sep 6:1-6.

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Ozer PA, Kabatas EU, Bicer BK, Bodur S, & Kurtul BE (2016). Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists. Seminars in ophthalmology, 1-6 PMID: 27599387

Pattern-related visual stress in ME/CFS

At the time of writing this post, important discussions about ME (myalgic encephalomyelitis) and/or CFS (chronic fatigue syndrome) are coming thick and fast.

Years of talk about 'yuppie flu' and other even more derogatory terms to describe the often very disabling experience of ME/CFS (SEID if you wish) have seemingly been replaced by sensible discussion on things like a research agenda for CFS/ME (at least in some parts of the world). As per other blogging occasions where CFS/ME has figured, 2015 is proving to be a bit of a turning point...

Who do we have to thank for this shift in thinking? Well, my bet would be on the thousands of people who suffer with ME/CFS (yes, people do suffer with the condition) and their families and loved ones who have tirelessly campaigned down the years for appropriate recognition of the condition despite living an often torrid existence as a consequence of their symptoms. Patient power in action you might say. I'd also drop in a name or two for some research pioneers such as Jose Montoya (see here) and colleagues and the research tag-team that is Mady Hornig and Ian Lipkin (see here) (they have fingers in many research pies!) for their important contributions. A colleague of mine, Prof. Malcolm Hooper, also deserves a mention (see here) in that list of the great and the good, alongside countless other investigators and clinician folk.

Part of the shift in our thinking and understanding of ME/CFS, aside from some recognition that several states/conditions/diagnoses might reside under the umbrella terms ME/CFS, is the idea that the physiology and biology of the disease course are deserving of quite a bit more study over and above the focus on just the psychological 'effects' of the condition. Heated discussions about the PACE trial (see here) and its follow-up (see here) have served a useful purpose insofar as stressing that 'psychology' may be part and parcel of CFS/ME as an 'effect' (see here) but this does not mean that more fundamental biology and biochemistry should be ignored as potential aetiological and intervention options (see here).

The idea that there may be psychological 'effects' to cases of ME/CFS is something explored in a recent paper by Rachel Wilson and colleagues [1] who concluded that their findings "provide evidence of altered visual perception in ME/CFS." Based on data from a small group of people diagnosed with ME/CFS compared with age and sex-matched asymptomatic controls, researchers set out to "determine vulnerability to pattern-related visual stress." Pattern-related visual stress (PRVS) by the way, refers to problems stemming from looking at certain types of visual stimuli. For the purposes of their study, Wilson et al used the Pattern Glare Test to determine PRVS (further information can be read here although I am told that those with photosensitive epilepsy should resist any further temptations to look for the patterns used).

"Pattern-related visual stress may represent an identifiable clinical feature of ME/CFS that will prove useful in its diagnosis." That was the conclusion reached on the basis of the results obtained, and specifically that: "ME/CFS patients exhibited significantly higher pattern glare scores than controls for the mid-SF [spatial frequency] pattern" among other things. I might reiterate that this was quite a small study in terms of participant numbers and also in the context of assessing visual stress so I'm cautious about any claims of such a variable being somehow diagnostic at this time. Some media write-up of the study can be seen here.

Nonetheless, these are interesting results and perhaps map on to other related data from some of the authors on the Wilson paper [2]. Quite a few moons ago, my colleagues and I also talked about the possibility of visual manifestations included in the context of [some] ME/CFS [3]. On that occasion, we discussed the idea that light sensitivity or photophobia might be something to look at, allied to issues such as auditory hyperacuity (noise sensitivity) and other, more cognitive-related issues appearing alongside the more traditional fatigue-related aspects to presentation. I cannot say for sure that visual stress and auditory acuity issues are linked, but one might reason that within the wider context of perceptual issues being part and parcel of at least some cases of ME/CFS, there may be more research to do in this area with multi-sensory perception in mind. I might add that ME/CFS research might be able to learn a few things from other areas of research too (see here and see here) given some research history with ocular manifestations in mind [4].

The question is then: what are the biological underpinnings of such issues? Well, I have some ideas about that too including entertaining the potentially controversial notion that there may be an 'infectious' component to something like ME/CFS [5] at least in some cases...

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[1] Wilson RL. et al. Increased Vulnerability to Pattern-Related Visual Stress in Myalgic Encephalomyelitis. Perception. 2015 Nov 3. pii: 0301006615614467.

[2] Hutchinson CV. et al. Vision-related symptoms as a clinical feature of chronic fatigue syndrome/myalgic encephalomyelitis? Evidence from the DePaul Symptom Questionnaire. Br J Ophthalmol. 2014 Jan;98(1):144-5.

[3] Whiteley P. et al. Correlates of Overlapping Fatigue Syndromes. Journal of Nutritional & Environmental Medicine. 2004; 14: 247-259.

[4] Potaznick W. & Kozol N. Ocular manifestations of chronic fatigue and immune dysfunction syndrome. Optom Vis Sci. 1992 Oct;69(10):811-4.

[5] Underhill RA. Myalgic encephalomyelitis, chronic fatigue syndrome: An infectious disease. Med Hypotheses. 2015 Oct 19. pii: S0306-9877(15)00382-5.

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Wilson RL, Paterson KB, & Hutchinson CV (2015). Increased Vulnerability to Pattern-Related Visual Stress in Myalgic Encephalomyelitis. Perception PMID: 26562880

More ophthalmic findings in autism

"Ophthalmic pathology was noted in 26.9 % of patients with ASD [autism spectrum disorder], of which 22 % had significant refractive errors and 8.6 % had strabismus."

That was the conclusion reached in the paper by Emrah Utku Kabatas and colleagues [1] based on the premise that: "Children with autism spectrum disorders (ASD) frequently have ophthalmologic disorders"; that is, issues with the anatomy and function of the eyes.

We've been here before. I'll take you back to the post that I wrote around the paper by Ikeda and colleagues [2] and their quite remarkable suggestion that ophthalmic pathology was present in 40% of people with autism or a related disorder. Such cumulative evidence should be enough to convince even the most sceptical healthcare providers that they should be setting up regular eye care appointments for every person diagnosed with autism. More so when perhaps autism is joined with faddy eating habits and the important effects that nutritional deficiency might also bring to eye health (see here).

Music: Kate Bush - Hounds of Love.

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[1] Kabatas EU. et al. Initial Ophthalmic Findings in Turkish Children with Autism Spectrum Disorder. J Autism Dev Disord. 2015 Mar 24. 

[2] Ikeda J. et al. Brief report: incidence of ophthalmologic disorders in children with autism. J Autism Dev Disord. 2013 Jun;43(6):1447-51.

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Kabatas EU, Ozer PA, Ertugrul GT, Kurtul BE, Bodur S, & Alan BE (2015). Initial Ophthalmic Findings in Turkish Children with Autism Spectrum Disorder. Journal of autism and developmental disorders PMID: 25800865

Vision impairment and ADHD?

Science often has the ability to surprise.

So it was when I first read the paper by Dawn Decarlo and colleagues* (open-access here) which suggested that: "children with vision impairment may be more likely to be diagnosed with ADHD [attention deficit hyperactivity disorder] than children in the general population". I should point out that this observation should not be totally unexpected given some media for other studies by the authors (see here).

Lady in a green jacket @ Wikipedia  

The Decarlo study was based on a question of "whether the prevalence of parent-reported ADHD diagnosis in a cohort of pediatric low vision subjects was similar to that reported for the general population". It seems researchers were a little bit worried that there may be some mixing up of the signs and symptoms of possible ADHD as a consequence of a child's visual impairment and sought to further look into the issue.

So, bearing in mind the paper is open-access, a few study details:

• Alabama, USA was the study setting, and the medical records of participants (N=245) with low vision were drawn from two sites. Researchers garnered various details about participants covering basic demographic information and that relevant to vision including "primary ocular diagnosis, presence or absence of nystagmus, and best-corrected visual acuity in each eye". They also asked participants' parents whether or not their child had ever received a diagnosis of ADHD and had state and national ADHD prevalence estimates to hand.
• Results: the Alabama state ADHD prevalence estimate (based on 2007 data) was 14.3% and the US national prevalence 9.5%. The parent-reported prevalence rate of study children ever having a diagnosis of ADHD was 22.9% (56.245). Examination of an additional cohort of 19 children with almost total vision loss for a diagnosis of ADHD was 10%.
• Albinism - a condition concerned with the production of melanin - was the most frequently reported eye problem among participants (16%) and similar to the issue of optic nerve hypoplasia (ONH), saw a prevalence of ADHD diagnosis at 20% of these cases. Indeed, ONH has previously been linked with 'behavioural problems' in other research** and indeed, some of the features of autism***.
• Researchers concluded: "the prevalence of parent-reported ADHD among children with vision impairment in the present study is considerably higher than that reported by the Centers for Disease Control and Prevention".

There is obviously more to do in this area insofar as ascertaining whether these results are more widely applicable to cases of paediatric vision impairment or just a statistical blip. Noting for example, that the State of Alabama has an ADHD prevalence estimate some way above the US national estimate, might imply that ADHD is more generally apparent as a diagnosis there, so children were more likely to receive a diagnosis as a result of better screening facilities for example. Indeed, in my review of some of the [worldwide] prevalence rates of pediatric ADHD rates (see here), the figures coming back were nearer the US national average than the Alabama state estimate although potentially rising.

The lack of an external control group looking both at asymptomatic controls or even those children with something like hearing impairment in the Decarlo study, means that some caution must be exercised before leaning too far into the suggestion of any relationship.

The question of what mechanism might be behind any association is also important. I could suggest that the quite recent report of a link between solar intensity and ADHD (see here) might potentially offer some clues if one is to assume that vision is a common denominator across these areas of research. That being said, it is quite a tentative link and as yet, I can offer no further support for this suggestion.

Perhaps more relevant are the discussions about shared genetic/environmental influences which affect vision and potentially, risk of ADHD, as being linked to any association. Taking you back to the paper by Antoine and colleagues**** which was discussed in another post (see here) on inner ear conditions being linked to hyperactivity, one might assume similar mechanisms to be plausible. That also the paper by Kim and colleagues***** reported issues with vision function and colour vision to be linked with cases of adult ADHD is something else to throw into the mix.

Whatever the reason(s) for such a correlation, I am intrigued by the Decarlo findings and wait attentively for any further movement in this area of investigation.

Music to close, and having recently heard the song Purple Rain on the radio, I have a rekindled respect for Prince...

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* Decarlo DK. et al. Prevalence of attention-deficit/hyperactivity disorder among children with vision impairment. J AAPOS. 2014 Feb;18(1):10-4.

** Teär Fahnehjelm K. et al. Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. Acta Ophthalmol. 2013 Oct 7.

*** Parr JR. et al. Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Dev Med Child Neurol. 2010 Oct;52(10):917-21.

**** Antione MW. et al. A Causative Link Between Inner Ear Defects and Long-Term Striatal Dysfunction. Science. 2013; 341: 1120-1123.

***** Kim S. et al. Visual function and color vision in adults with Attention-Deficit/Hyperactivity Disorder. J Optom. 2014 Jan-Mar;7(1):22-36.

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Decarlo DK, Bowman E, Monroe C, Kline R, McGwin G Jr, & Owsley C (2014). Prevalence of attention-deficit/hyperactivity disorder among children with vision impairment. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus, 18 (1), 10-4 PMID: 24568975

Synaesthesia prevalent in autism?

The BBC headline 'Study links synaesthesia to autism' recently caught my eye (and nose!) discussing the paper by Baron-Cohen and colleagues* (open-access) who suggested that: "The rate of synaesthesia in adults with autism was 18.9% (31 out of 164), almost three times greater than in controls".

Colour and sensation @ Wikipedia 

Synaesthesia according to the UK Synaesthesia Association is best described as a "union of the senses" whereby "two or more of the five senses that are normally experienced separately are involuntarily and automatically joined together".

In other words, some people might experience certain words as tastes or see colours when they hear music. The BBC follow-up their coverage of the Baron-Cohen paper with a story about a man who can taste the London Underground map and his efforts to re-design the Tube map according to 'sausage and eggs' and 'putrid meat'.

In their paper, the authors tested the suggestion of overlap between autism - adults with "high-functioning autism or Asperger's syndrome" - and synaesthesia by asking participants with autism and asymptomatic controls to complete a questionnaire on any experiences of synaesthesia alongside something called the Test of Genuineness-Revised (ToG-R) "to validate any self-reported auditory-visual forms of grapheme-colour (GC) and sound-colour (SC) synaesthesia and was sent to all participants in order to detect true and false positives and negatives". That being said, response rates to the ToG-R were not brilliant; as per another quote: "Telephone follow-up to find out why ToG-Rs were not being completed revealed that participants with autism reported fatigue from the 241 possible choices".

Based on their data however, they report that "The rate of synaesthesia in autism (18.9%) was almost three times greater than in the typical sample (7.22%)". They also suggest that this figure might be an under-estimate given that some participants with autism "claimed they did not have synaesthesia, but were judged by the experimenters to have synaesthesia on the basis of their questionnaire responses".

I have to say that I'm very interested in these results. Sensory issues with regards to the autism spectrum are something of growing importance given the effect that they can have on both how a person perceives the world around them and also how such perceptions can impact on day-to-day functioning and quality of life. Even the latest version of DSM saw fit to include sensory issues in their latest redefinition of the autism spectrum (see here).

That being said I still want to see more on this topic done before I totally commit to the likelihood that synaesthesia is frequently prevalent in cases of autism. Questions about how representative these results are for example, to those who present with a greater severity of autistic symptoms or with comorbid learning disability remain as does the question of mechanism and whether there are genetic or biological commonalities to be seen.

I'd also hazard a guess that synaesthesia is just the tip of the iceberg when it comes to sensory and visual issues and autism; indeed whether as per the exclusion criteria for acquired synaesthesia in the Baron-Cohen study "the person had any medical conditions affecting vision". Well, if the Ikeda results are anything to go on, yes would probably be the answer for anything up to 40% of those with autism. How such vision issues would impact on the presentation of synaesthesia remains to be seen. And finally there is the question of whether any other -sia conditions also reported in cases of autism might also show some involvement, as per the chatter about prosopagnosia (face-blindness)?

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* Baron-Cohen S. et al. Is synaesthesia more common in autism? Molecular Autism 2013, 4:40

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Simon Baron-Cohen, Donielle Johnson, Julian Asher, Sally Wheelwright, Simon E Fisher, Peter K Gregersen, & Carrie Allison (2013). Is synaesthesia more common in autism? Molecular Autism, 4 DOI: 10.1186/2040-2392-4-40

Surgery following self-injurious behaviour

Discussions on self-injurious behaviour (SIB) or auto-aggression are not normally for the faint-hearted.

Indeed, as I intimated on a previous post on SIB and autism, when such behaviours are witnessed in children and young adults - even older adults, one does wonder what the effects might be not only on the person themselves but also on a parent or a sibling as they watch their own flesh and blood banging their head on a wall or pulling their hair out or trying to gouge their eyes out. I can't put myself in their place without thinking of how it might affect me if it were one of my brood showing such behaviours.

In this post I'm drawing your attention to a paper by Robert Sisk and colleagues* (open-access) on surgical outcomes following the repair of detached retinas in young adults with intellectual disability (ID) and SIB. Due credit should go to Harold Doherty of the Facing Autism in New Brunswick blog for bringing this paper to my attention. I'm not going to deconstruct the paper in any statistical sense because the paper speaks for itself in terms of observations and outcomes of those nine patients described. Some of the language used is also a little too technical for me.

The long-and-short of it was that in a largely non-verbal subject group, where autism is mentioned as being some part of 6 cases, the outcome of surgery for detached retina is reported. I just want to clarify one thing about retinal detachment, we aren't talking eye-balls hanging out of eye-sockets or anything like that, but rather when the retina comes away from the support tissue. Nevertheless it is a medical emergency and can have profound consequences if not treated in time.

There are a few points and quotes from the Sisk paper worthy of some comment.

• Surgery was reported to be successful in all cases but that's not to say retinal detachment (RD) did not occur more than once for a few of the participants and at least partially because SIB didn't just miraculously stop following the first episode. 
• "RDs from self-injurious behaviors were observed during puberty, coinciding with the onset or worsening of self-injurious behaviors". Ah yes, puberty and the wonders it brings for everyone. Indeed, what puberty can mean to those with autism and/or intellectual disability for example (see here).
• "Self-injurious behaviors also worsened when visual performance declined and served as an indicator to family members and health care providers to investigate for RD". This is an important point about SIB. It kinda tells us that there is nearly always a reason for SIB and one shouldn't for example just assume that it's naturally part and parcel of autism or ID presentation (just like another comorbidity). It also suggests that those findings by Ikeda and colleagues on ophthalmologic disorder and autism (40%) are to be taken very, very seriously save any more health inequality appearing.
• "The management of RD in patients with severe cognitive impairment and persistent self-injurious behaviors was challenging". Indeed in some cases things did not stop at RD in terms of both repeat episodes and the onset of other symptoms such as glaucoma as a result of the long-term use of silicone oil tamponade as part of the treatment.

Reiterating my starting sentence to this post on SIB not being great dinner party conversation, I'd like to think there are some lessons that could be learned from papers like the one from Sisk. That for example, autism is a very, very heterogeneous spectrum with lots of shades of presentation is an important point that should not be forgotten. That those on the more 'severe' end of the spectrum might be at greater risk of comorbidity as a result of things like SIB - and importantly not always able to communicate the reasons why - should automatically mean a greater focus on health screening and the potential outcomes from things like SIB (not just the eyes and vision). It's not that we might not have clues as to at least some of the circumstances around SIB**.

Presenting SIB as potentially occurring in cases of autism*** should perhaps also be an important part of the autism awareness message. Alongside other physical comorbidity which might also reflect on behaviour (see here and here), and where it can lead (see here), adding SIB to the long list of potential correlates to autism can only serve to heighten awareness of the importance of these factors and how we might go about dealing with them to improve quality of life. I'll being continuing this chatter about the 'ESSENCE' of comorbidity in a post next week...

To finish and without making light of the topic matter covered today, I believe it is customary to celebrate Star Wars day (May 4th) in a particular way... and we have the late Margaret Thatcher to thank for this???

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* Sisk RA. et al. Surgical Outcomes Following Repair of Traumatic Retinal Detachments in Cognitively Impaired Adolescents With Self-Injurious Behavior. Journal of Pediatric Ophthalmology and Strabismus. 2013; 50: 20-26.

** Duerden EG. et al. Risk factors associated with self-injurious behaviors in children and adolescents with autism spectrum disorders. J Autism Dev Disord. 2012; 42: 2460-2470

*** Richards C. et al. Self-injurious behaviour in individuals with autism spectrum disorder and intellectual disability. J Intellect Disabil Res. 2012; 56: 476-89.

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Sisk RA, Motley WW 3rd, Yang MB, & West CE (2013). Surgical outcomes following repair of traumatic retinal detachments in cognitively impaired adolescents with self-injurious behavior. Journal of pediatric ophthalmology and strabismus, 50 (1), 20-6 PMID: 23061560

The eyes have it for autism?

Twenty-twenty @ Wikipedia 

There were a few reasons why I wanted to talk about the paper from Ikeda and colleagues* on ophthalmologic (eye) disorders noted in cases of autism.

First and foremost is my continued, unwavering, interest in all things comorbidity with autism in mind. Probably the next reason was the quite astonishing rate of ophthalmologic disorder reported by Ikeda, in "40% of patients with autism or a related disorder".

A final reason? Well without wishing to plug anyone, a friend of mine is making some waves in this whole area of vision and perception and he's talked quite a bit about the value of appropriate eye examinations for people with autism and lots of related developmental conditions, partly so as not to reflect yet another health inequality.

Indeed having very recently seen him lecture again and talk about problems with vision, face perception and descriptions of eyes, nose and mouth seemingly not being where they were supposed to be alongside faces morphing into animals and vegetables, I'm more convinced than ever about the value of looking at vision processing for some cases of autism and other conditions too.

During a past post titled: Do you see what I see? I talked about the sensory and perceptual link to autism and how even the proposed revisions to the DSM V description of autism spectrum disorders have recognised just how important issues with visual, auditory and other sensory modalities might be to cases.

The Ikeda paper is slightly different insofar as they were looking for specific issues with the eyes following a retrospective review of their caseload.

The main points:

• Based on a total cohort of 407 pediatric attendees diagnosed with an autism spectrum disorder at a medical centre, a chart review revealed that 154 had documentation pertaining to an ophthalmologic examination by a suitably qualified person.
• Most children were male, white and diagnosed with mild/moderate autism. Over half of the children (57%) "presented with an eye-related concern" in the majority noted by parents.
• Results: only 40% of the cohort were cooperative for recognition visual acuity testing (the well-know eye chart test) and of those other 60% not cooperative, upwards of a third were found to have an ophthalmologic disorder. 
• That original 40% quote used in the beginning of this post included a variety of ophthalmic issues, many of which I can't even pronounce never mind give you detailed information about. The main issues were: strabismus (irregular aligning of the eyes) (21%) and "significant refractive errors" including hyperopia (long-sightedness) and myopia (short-sightedness) as being primary.
• Other less commonly described conditions include: nystagmus (voluntary or involuntary eye movements) and ptosis (a drooping or falling of the eyelid), and something linked to the autoimmune neuromuscular condition myasthenia gravis.

There are a few quite important points of discussion to take from this work and some other related study. Aside from reiterating the percentage of children with autism with verifiable issues with their eyes and vision (40 PERCENT), the point made about those who were least cooperative during examination carrying quite a high burden of ophthalmologic disorder is a worrying trend. That coupled with other data from this study on the role of comorbid intellectual disability (ID) also potentially being a risk factor for eye problems, really does make you sit up and think. I'm not for one minute suggesting that those in the uncooperative category are somehow cajoled into undertaking an eye examination (indeed whether it would be possible) but certainly the onus might be on the clinician and other professionals to engage in a little creative thinking about how uncooperative participants can be more readily catered for.

There is also a question about the relationship between ophthalmologic disorders and some of the various perceptual issues reported in cases of autism. Again my lack of expertise in this areas shines through as I cannot readily say whether issues like strabismus might have the potential to impact on visual perception or indeed whether some kind of cognitive correction might be at work**. I assume like everything, there is probably going to be a degree of individuality to such eye issues and any adaption made or not where timing might also be an important factor.

Meandering (a lovely word!) through the other research on ophthalmologic disorders and autism, there seems to be snippets of information about for example, various genetic conditions manifesting eye disorders and autism (see this paper by Strömland and colleagues*** for example). Such papers pose some interesting questions about whether within the autisms spectrum (plural again), there may be cases whether eye anatomy and physiology might share underlying issues (genetics, epigenetic or environmental) with the appearance of autistic characteristics**** in the same way that some people get quite excited about facial phenotypes and autism.

"Just one last thing"... I also chanced upon an interesting case series described by Pineles and colleagues***** (open-access) on something called vitamin B12 optic neuropathy presenting in cases of autism. I've kinda touched upon vitamin B12 and methlymalonic acid (MMA) issues appearing in autism in a previous post. Pineles et al suggest that a deficiency in vitamin B12 might indeed be an important correlate for things like decreased visual acuity in some cases of autism. This in itself asks a few further questions about why such deficiency might be present and indeed whether there may be some good reasons to look more closely at vitamin supplementation (thinking back to Jim Adams' study) where certain eye problems might be present as a comorbidity.

Oh, and I assume you have seen this paper?

To close, always remember Apollo Creed and the Eye of the Tiger. Respect.

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* Ikeda J. et al. Brief report: Incidence of ophthalmologic disorders in children with autism. J Autism Dev Disord. February 2012.

** Economides JR. et al. Perception via the deviated eye in strabismus. J Neurosci. 2012; 32: 10286-10295.

*** Strömland K. et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007; 143A: 1317-1325.

**** Miller MT. et al. The puzzle of autism: an ophthalmologic contribution. Trans Am Ophthalmol Soc. 1998; 96: 369-385.

***** Pineles SL. et al. Vitamin B12 optic neuropathy in autism. Pediatrics. 2010; 126: e967-e970.

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Ikeda J, Davitt BV, Ultmann M, Maxim R, & Cruz OA (2012). Brief Report: Incidence of Ophthalmologic Disorders in Children with Autism. Journal of autism and developmental disorders PMID: 22350452

Coeliac disease and cataracts?

Given that one of the more consistent interests on this blog is related to the gut and the various gastrointestinal (GI) co-morbidities that have been noted alongside some cases of autism spectrum and related conditions, it is little surprise that I have arrived at yet another potential manifestation of one such co-morbidity, coeliac disease (CD); this time looking at its possible relationship with cataracts.

The US National Institutes of Health (NIH) carry some good information on cataracts: what they are and how they come about. A cataract is defined as a clouding of the lens of the eye which affects vision and is primarily a condition associated with age although there are other factors also involved depending on the type of cataract. It was interesting to read that the various 'risk' co-morbidities attached to cataracts include both disease and environment. Cataracts are one of the primary causes of blindness around the globe and a condition which really should not be as prevalent as it is given its high degree of 'treatability' through fairly routine surgery.

An interesting study has appeared suggesting that a diagnosis of CD may increase the risk of developing cataracts. This follows on from a previous case report potentially linking cataract with CD (said subject of this case only being 18 years old) and a suspicion of a link in cases of CD co-presenting with hypoparathyroidism. The current study assessed data on over 28,000 people diagnosed with CD over a 40-year period and using some nifty statistics compared each of them with 5 non-CD controls to assess the risk of cataracts in CD (I think you can see that the sample base was huge). The results suggested that approximately 4% of patients with CD developed cataracts over the course of the follow-up period (where roughly 3% would be expected). I know what you are saying 4% over 3%, so what? Well percentages perhaps don't give the true story here given that an excess of 250 people with CD developed cataracts over the examination period, which in statistical terms represents an increased risk.

Despite being a comparatively small risk, extra-intestinal symptoms like cataracts potentially related to CD are always of some interest to me and quite a few others because they provide a tantalising peek into how CD might manifest itself outside of the common GI symptoms. In the cases of CD and cataracts described here, one of the main theories linking the two is hypocalcaemia as a result of the malabsorptive effects of CD which has been previously discussed in the research literature. Once again those pesky malabsorption (and gut permeability?) issues seem to end up disrupting all manner of systems and not just in the short term. On a similar note I would perhaps refer you to an interesting post over at Brain Posts by Bill Yates on the role of fibre (UK spelling) and inflammation and how CD might represent yet another risk factor.

As far as I am aware, cataracts in relation to autism run at about the same prevalence rate (?) as they do in the general population. There is the odd paper suggesting a possible link between the features of autism, cataracts and various genetic disorders but very little else. There is also perhaps some tie-up between some of the various risk factor conditions for cataracts and autism; not least congenital rubella and diabetes but I don't want to stretch any relationship, that at the moment does not appear to be present. Whether the risk of cataracts will become more relevant to autism as the autistic population age, I dunno.