From limp to scurvy in the context of autism

"A panel of nutritional markers was sent, and a presumptive diagnosis of scurvy was made."

So said the case report detailed by Adam Yan and colleagues [1] as, yet again (see here and see here), the topic of scurvy in the context of autism appears in the peer-reviewed science literature. Scurvy, a condition affecting various tissues of the body, comes about as a result of a lack of adequate vitamin C in the diet. It's thought of as a rare disease nowadays, following on from some 'limey' historical observations (see here).

I say that scurvy is a rare disease, but as per the other blogging occasions when it's received attention, for those diagnosed on the autism spectrum it's not as rare as it should be. Indeed, even Yan et al note that "scurvy is increasingly identified in children with ASD [autism spectrum disorder] and developmental delay who consume restrictive diets, often lacking in fruits and vegetables." Their case report highlights how clinicians need to be observant...

The subject of the Yan case report was a young boy diagnosed with autism who was described as non-verbal. He came to clinical attention following "a 2-week history of limp and oral mucosal bleeding." Unfortunately, his first contact with medical professionals resulted in less-than-revealing typical test results that meant he was discharged with "a referral to dentistry to address the oral mucosal changes." Things did not improve. He presented again to hospital, this time "with new onset of fevers for 1 week, ongoing limp that had progressed to complete refusal to weight bear, and persistent bleeding from his oral mucosa." This second time a few more investigations were ordered and a very (VERY) low level of vitamin C (ascorbic acid) was detected: "The low ascorbic acid level confirmed the diagnosis of scurvy with a concomitant diagnosis of anemia." Treatment in the form of vitamin C and an iron supplement (alongside a multivitamin) did the trick in terms of the limp/leg problem and bleeding gums.

What are the lessons from this case report? Well, yet again, the realisation that issues such as those related to feeding problems present quite widely in relation to autism (see here) and can very much impact on health is paramount. Indeed, it should really be part of standard medical care to monitor and keep monitoring children in particular, with a diagnosis of autism to ensure that their nutritional needs are being met in many areas (see here). If they're not, supplement (under appropriate medical guidance) and don't be afraid to do so, keeping in mind that each person/child is different (see here).

I'm also minded to mention that when medical and other allied healthcare practitioners are faced with a child/adult with autism that is non-verbal and presenting with 'symptoms', the onus really should be on medicine to turn investigator to find out 'hows-and-whys' rather than discharging with a 'we don't know' sentiment. I say this in the context that a diagnosis of autism is seemingly not protective against any other condition/label/disease occurring, and noting other, more catastrophic, examples where this has happened (see here). And minus any sweeping generalisations, a few correctly framed questions can sometimes be enlightening [2] for all-manner of different issues pertinent to autism...

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[1] Yan A. et al. Limp in a Child With Autism Spectrum Disorder. Global Pediatric Health. 2017. Nov 30.

[2] Cohen S. et al. Sleep patterns predictive of daytime challenging behavior in individuals with low-functioning autism. Autism Res. 2017 Dec 1.

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Summarising birth risk factors for autism

Hot on the heels of the various evidence published last week on the rise and rise of variable gene-environment interactions in relation to autism aetiology, an entry on the Autism Speaks blog directed me to a study published in the Pediatrics today which takes an overview look at the collected data on birth factors in relation to risk of developing autism. The abstract to the paper can be found here.

Based on a meta-analysis of several studies looking at various perinatal and neonatal risk factors analysed in connection to autism, several issues are suggested to be potentially related by Gardener and colleagues, although like many things about autism, no one factor or pattern of factors seems to show a universal connection.

So, issues such as umbilical cord 'complications' (I assume this means things like knots and/or being wrapped around baby's head), low birth weight and small for dates are a few of the risks which seem to show some possible connection. Others which have already come up on this blog in one shape or form include: hyperbilirubinemia, neonatal anaemia, feeding difficulties, and being a summer birth. I note also a possible connection with blood or rhesus incompatibility which is something I perhaps will go into in a future entry. There were a few other conditions not found to be associated with any increased risk including head circumference and prematurity. I was a bit taken aback by prematurity not showing association when the data were joined. Having said that, studies like this one have perhaps indicated that such issues might be more related to any co-morbid cognitive problems attached to the autism diagnosis. The head circumference factor is something that is due to be discussed in a separate post in the coming weeks.

I don't want to jump on to any bandwagon with these findings because, as the authors note, they were often comparing oranges and apples with the array of research reviewed. I do however think that this paper provides some important data when starting to look at both 'risk' factors in developing autism and possibly mechanisms; building on what is known about some of the birth factors listed and the risk of other physical and behavioural developmental conditions outside of autism.