Showing posts with label research summary. Show all posts
Showing posts with label research summary. Show all posts

Saturday, 29 December 2018

2018 autism research review on Questioning Answers

So, once again it's time for my annual 'what was hot in autism research this year' roundup. As in previous years (see here), 2018 was a year packed with all sorts of weird (see here) and wonderful (see here) research and research-based discussions. Some important key themes emerged and/or continued to be discussed that I'd like to bring to your attention.

So...

1. Autism does not typically appear in a diagnostic vacuum.

Last year (2017) I predicted that we'd see a lot more (research) recognition that autism rarely appears in some sort of diagnostic vacuum, be that in relation to behavioural and psychiatric labels or more somatic diagnoses. I'd like to think that I was roughly right, as various papers were published pertinent to this topic. A few articles that were covered on this blog included:


There's still a way to go in this area. Various questions need answering such as whether 'comorbidity' is the factually correct word to use in some contexts [1] or whether, in some circumstances, various *issues* might actually be more 'core' to the presentation of autism. Y'know, something like what Mildred Creak talked about with regards to anxiety and autism for example [2] quite a few years ago albeit with some different terminology. This also has some important implications, not least for how such *comorbid* issues are to be managed if connected to core autistic features alongside the pitfalls of self-diagnosis.

2. The (estimated) prevalence of autism.

The autism numbers game features prominently every year. In 2018 it was particularly notable as a result of the United States CDC releasing their 'once every two year estimates of autism in 8-year olds' report. A few posts covered this and other research including:


The net result of all this research is that whilst it's pretty difficult to say exactly how many people have been diagnosed with autism or an autism spectrum disorder (ASD) in any particular population at any particular time, the estimates continue to flood in. And the bottom line seems to be: the 'growth' in the (estimated) numbers is seemingly still continuing at a pace and science should continue to be asking 'why'? (see here and see here for examples). Policymakers likewise should also continue planning and ensuring that money, resources and services are available to all who need them.

3. The autisms (plural). 

The autisms. Y'know, the idea that within the huge heterogeneity that is covered by the label 'autism' or 'ASD', there may be lots of different 'types' of autism and/or pathways to the diagnosis. It's a topic that continues to be explored in the peer-reviewed research arena. Some examples this year include:


And you'll perhaps have noted that among some of that research, words like 'actionable metabolic tests' have been used indicating that observable behaviour might eventually not be the only variable when it comes to diagnosing autism. Indeed, I'll be blogging about this more early in the New Year based on further study [3]...

4. The ICF core sets for autism.

I've talked quite a bit on this blog in 2018 about the development of the ICF core sets for autism. This initiative has an important purpose: "To capture [the] complex melange of functioning experiences beyond the diagnosis, the ICF offers a tool to describe the lived experience of a person with ASD in a comprehensive and standardized way." And progress was seemingly made in 2018 and long should it continue:


5. Other news, views and progress.

Because there were a myriad of other research papers published in 2018 and discussed on this blog, I've included a few other posts that might be an interesting read for some. It's a mixed bag of science, news and ideas, but hopefully you can see that autism research continues at a pace in various different directions.


As to my prediction of 'where next?' for autism research in 2019, well, I'm hoping that the topic of nutritional deficiency and autism might receive quite a bit more 'interest' given the quite worrying data that is emerging on the topic of scurvy and autism for example (see here and see here and see here). It's not exactly difficult research to undertake, and given what nutritional deficiency can mean for some folk (yes, things like physical pain and discomfort), I'd suggest that it should be made a research priority. Perhaps add it to the autism research list?

And finally as always, Happy New Year. I hope you'll visit and enjoy this blog again in 2019 - you know that you're always welcome!

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[1] Rubenstein E. & Bishop-Fitzpatrick L. A Matter of Time: The Necessity of Temporal Language in Research on Health Conditions that Present with Autism Spectrum Disorder. Autism Res. 2018 Sep 5.

[2] Evans B. How autism became autism: The radical transformation of a central concept of child development in Britain. Hist Human Sci. 2013;26(3):3-31.

[3] Barone R. et al. A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses. Front Psychiatry. 2018;9:636.

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Sunday, 31 December 2017

2017 autism research review on Questioning Answers

All hail The Onion
So, it comes around again. The annual 'what was hot in autism research this year' review for 2017.

I'm a bit pressed for time as you probably are too, so I'll make it short this year and pull together a sort of top 5 research areas that emerged/continued in 2017 based on the 300-odd entries made on this here Questioning Answers blog this year. So, in no particular order...

1. Physical activity and autism received a whole lotta research attention this year (see here). Guess what? Exercise is kinda good for lots of different reasons (see here and see here for examples), some of which may well tie into various aspects of a diagnosis of autism too (see here).

2. Psychosis and/or schizophrenia can manifest alongside autism and vice-versa (see here and see here). And such symptom combinations may have important implications for management too (see here). I know this area of research potentially carries a lot of 'baggage' with it, but burying heads in the sand isn't gonna help. It also reiterates the ideas that (a) there is no substitute for a thorough professional assessment when autism is suspected (see here) and (b) overlaps with a bigger question on whether quite a lot of the 'comorbidity' discussed with reference to autism, might in some cases be something so much more 'core'...

3. We should all be listening a lot more to autistic people / people with autism (see here and see here, and yes, it should be 'who speaks for whom'!). This doesn't mean that important parent/carer voices are somehow silenced given the important role(s) they can and do play (see here). Just that we can learn a lot more when voices are combined. I'm also minded to suggest disposing of the term 'neurotypical' or NT in 2018 and beyond (see here) given the absurdity of assuming that anyone is at all 'neurotypical' or indeed, assuming that everyone on the autism spectrum are somehow 'neurodiverse'. Oh, and going back to the representation of autism in the media, don't assume that fictional portrayals are always going to please everyone all of the time (see here)...

4. Sexual identity and preference(s) in relation to autism is rising in research terms (see here and see here). Granted, some of the associations that have been reported on need quite a bit more study (see here) but alongside talk about gender dysphoria rates in autism (see here), important questions need asking and answering. I know some people might see this research area as a bit 'so what?' but one shouldn't underestimate how important gender and sexual identity can be to a person for lots of different reasons.

5. The continued rise and rise of the systematic review and/or meta-analysis in relation to autism research. Not everyone is (or should be) completely enamoured with such collected analyses, particularly in light of the term 'if you've met on person with autism, you've met one autistic person'. But such data are casting a little more 'generalised' light on many areas of autism research and practice and providing some nice general directions for further study. A few this year included: fatty acid use and autism (see here and see here), anxiety and autism (see here), visual issues and impairments and autism (see here) and breastfeeding and autism (see here). For the most part, such analyses have added to the ideas that (a) autism does not normally reside in some sort of diagnostic vacuum; and (b) receipt of a diagnosis of autism should represent a 'starting point' for further investigations not the finishing line.

So there you have it.

I'm also going to make a prediction about one important direction that autism research (and practice) will continue on in 2018: even more recognition that the diagnosis of autism rarely exists in a diagnostic vacuum...

I'll hopefully catch you all in 2018. Happy New Year!

Music to close the year, and I'm going for the Eye of the Tiger yet again. C'mon, get up and practice your punching arms (or Sanbon tsuki if you prefer) to the beat. You know you want to*.

* No medical advice is given or intended. Please consult your medical professional in you have an existing health condition before beginning any new exercise regime. I mean it...

Thursday, 11 May 2017

Autism research at IMFAR 2017: a few ones to watch...

As I always seem to do at this time of year, I offer up a sort of 'highlights' post of what there is to see at the premier annual autism research event called IMFAR (The International Meeting for Autism Research) this year, and what we can perhaps expect to see in the not-to-distant-future in the peer-reviewed science domain. No, I'm not in San Francisco for the event, but I am most definitely interested in some of the science being presented.

If you are a Twitterer(!), there is a hashtag to accompany this years IMFAR meeting (#IMFAR2017) so as to follow proceedings on social media. A few choice abstracts for your attention then, in no particular order:



In addition, a few papers also talk about research that has already appeared in the peer-reviewed science domain and some important 'where next?' questions/answers:


I believe there is something for everyone in that list of papers. Of course there is lots more science being presented on too so I'd encourage everyone to peruse the conference proceedings...

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Tuesday, 27 December 2016

2016 autism research review on Questioning Answers

Time flies! Once again, I'm posting my annual 'state of the science' autism research review, this time covering the particularly unusual year of 2016.

With around 300 blog entries to choose from, I'm changing the format this year to list a 'top 5' of areas where I think some scientific progress has been made. The caveat as ever being that there are still mountains to climb in terms of delineating aetiology, nature and importantly, how one can actually improve quality of life for those on the spectrum. At the foot of this post I've also detailed a few 'areas to watch' in the coming months/years too.

So, in no particular order, here goes:

1. Vitamin D and autism. As per my 'one to watch' prediction from the 2015 end-of-year review, there has been a veritable science feast focused on the sunshine vitamin/hormone in connection to autism (see here). The research discussions in 2016 started with some initial talk about 'clinical improvements' following supplementation with vitamin D (see here). This was accompanied by chatter about the possible use of pregnancy vitamin D affecting risk of offspring autism (see here and see here). Screening for vitamin D levels as and when a diagnosis of autism is received was also discussed (see here). Then, towards the end of the year, things got really interesting as one of the first controlled trials of vitamin D supplementation in autism was published (see here) with the promise of more to come (see here). The findings (double-blind, placebo-controlled) suggested that for some at least, vitamin D over placebo might have the ability to affect the presentation of some aspects of autism. The caveats? Well, larger controlled trials are required and one has to be careful about doses of vitamin D in light of some cautionary tales (see here). What else needs to be done on the topic of vitamin D and autism? Given the number of conditions the sunshine vitamin has been linked to - some labels potentially crossing over with autism - a wider view of any 'effects' outside of those just on core autism symptoms might be useful. This will probably also provide some more potentially information about the possible hows-and-whys of vitamin D action.

2. Autism as a plural condition. 'The autisms' is a phrase not unfamiliar to this blog (see here) but this year, a couple of papers really started putting some scientific flesh on to the bones of the argument for why we need to rethink autism. Discussions on the paper by Lynn Waterhouse and colleagues [1] (see here) set the tone for such a debate and how the label of autism serves a purpose in defining / describing symptoms but seemingly does little else when it comes to a research perspective looking at the hows-and-whys of autism. That autism seemingly appears alongside a long list of other conditions including quite a few of the various inborn errors of metabolism (see here and see here) substantiates the idea that a singular labels says very little about the 'essence' of autism. And speaking of ESSENCE (see here), there was yet more on this important topic. Another part of this 'pluralisation' debate is the fact that the 'autism is a lifelong condition' mantra rolled out again and again and again might not necessarily ring true for everyone who was once diagnosed on the autism spectrum (see here and see here). And to say that these children/adults were 'never autistic in the first place' does a real disservice to them, their parents and loved ones and the professionals who diagnosed them...

3. Meta-analysing autism. Mirroring what seems to be apparent in the research literature in general, a whole slew of meta-analyses and systematic reviews on the topic of autism emerged this year. We had reviews on long-term outcome and quality of life (see here), behavioural outcomes following exercise (see here), medication (see here and see here), joint intervention strategies (see here), pregnancy infection and offspring autism risk (see here) and allergic asthma and autism (see here) to name but a few. One of the particularly notable reviews of the collected data was that by Nevill and colleagues [2] on the topic of parent-mediated interventions for young children with autism. Covering a topic with more than a pinch of media hype this year (see here), the science behind the hype in this area actually turns out to be not that strong at the moment...

4. Real-world autism. Although I'm partial to reading quite a bit on the science about autism, one thing I hope I never forget is how that science translates into 'action' when it comes to autism, either in terms of 'hows-and-whys' or impacting on the day-to-day positives and negatives of living with the label. This year I've talked about more research on the topic of 'real world autism' covering various angles including: wandering and autism (see here), parents lived experience of offspring autism diagnosis and beyond (see here and see here), early mortality and autism (see here and see here), the so-called challenging behaviours (see here) and the employment stats (see here). Quite a few of these areas make for uncomfortable reading insofar as the widening gaps present between autism and not-autism. But just before anyone suggests that I'm somehow casting autism in shadow, many if not all of the issues raised in those posts are solvable. So for example, on challenging the idea that 'people with autism die younger' and in particular, tackling the heightened suicide risk seemingly present alongside autism, there are practical things that can be done (see here); not least appropriate screening for important comorbidities (see here) and managing accordingly. Yes, there are mountains to climb, but with a pair of sturdy 'research and clinical practice' walking boots, change is possible...

5. Immune function and autism. I've added this into my top 5 of scientific progress because the knowledge base around how the immune system may be linked to at least some 'types' of autism is increasing year on year. It's a huge topic in terms of both aspects covered and potential 'links' being made but a few choice areas include: 'autism genes' being linked to immune function (see here), immune-related conditions being over-represented in autism (see here) and some big names coming around to the idea of neuroinflammation and [some] autism (see here). In this section I'm also going to draw your attention to further evidence talking about infection 'correlating' with the onset of some autism (see here) and how important gut issues (that often have immune-related biochemistry linked in) associated with some autism have received some further welcome research attention (see here). On the basis of this and the wealth of other peer-reviewed research on this topic, it would be a brave person to say that the immune system has no link to at least some types of autism. Such research also opens up the possibility of alternative avenues for intervention too (see here and see here) (with no medical advice given or intended)...

So as you can see, it's been a busy research year again when it comes to the label of autism. Alongside some of the science covered I'd also draw your attention to some emerging ideas including the suggestion that autism genes are not just genes for autism (see here), the stats on the estimated numbers of people diagnosed with autism being still high (see here) and possibly still rising in some areas (see here) and the suggestion of a 'frank' presentation of autism (see here) as being put out there and what effects this might have on autism screening and diagnosis.

What next for autism research in 2017? Well I dunno. But I might speculate on a few things including: (a) the rise and rise of investigations into gut bacteria and autism (see here for one possible example) including research looking at potentially 'altering' gut bacterial profiles (see here), (b) more research looking at the DSM-5 catch-all category called SCD (see here) and what it means for autism as a whole, (c) CRISPR-Cas9 and autism research (carefully) continued (see here) (if patents and the like don't get in the way), (d) the development of the ICF core sets for autism continuing (see here) and (e) further investigations into conditions such as the connective tissue disorders in relation to autism (see here) bearing in mind how motor skills in relation to autism seems to be coming back into research fashion. On that last point also, and bearing in mind my other blogging interest in relation to the labels called chronic fatigue syndrome / myalgic encephalomyelitis (CFS/ME), I'm also wondering if it is time for someone, somewhere to think about looking at the prevalence of CFS/ME in autism or vice-versa? Provided that is, they can select the correct description of CFS/ME and can avoid any psychosomatic entanglements (see here)...

Anyhow, I wish you all (again) health and happiness for the New Year.

And finally for my brood of black belt karateka (not forgetting a brown belt too), a song about a tiger and never giving up. And thank you also for motivating me to get further into the sport even if you do think I'm better suited to kihon and kata over and above kumite... the cheek of it.

Later dudes.

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[1] Waterhouse L. et al. ASD validity. Review Journal of Autism and Developmental Disorders. 2016. Aug 10.

[2] Nevill RE. et al. Meta-analysis of parent-mediated interventions for young children with autism spectrum disorder. Autism. 2016. Nov 14.

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ResearchBlogging.org Waterhouse, L., London, E., & Gillberg, C. (2016). ASD Validity Review Journal of Autism and Developmental Disorders, 3 (4), 302-329 DOI: 10.1007/s40489-016-0085-x





ResearchBlogging.org Nevill, R., Lecavalier, L., & Stratis, E. (2016). Meta-analysis of parent-mediated interventions for young children with autism spectrum disorder Autism DOI: 10.1177/1362361316677838

Wednesday, 30 December 2015

2015 autism research review on Questioning Answers

So here we are again. The end of another blogging year and time to reflect on the peer-reviewed research highlights that made it on to Questioning Answers in 2015.

As per other years (see 2011, 2012, 2013 and 2014), it's been another interesting year that I'm gonna break down into research by the months. The question as always is: are we any further forward when it comes to the autism spectrum, it's aetiology, nature and improving quality of life for those on the spectrum? As in previous years, I'm going to be the optimist and say yes, with the important proviso that there is so much more to do, particularly in translating science into practice.

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January
The systematic review came under the spotlight with autism in mind and indeed set the tone for quite a bit of research this year consisting of systematic reviews and meta-analyses. Good for evidence-based practice, perhaps not so good for the value of the N=1. Very good also for telling us how much further research needs to go as words like 'lack of evidence' are thrown around quite a bit. The idea that kids 'at-risk' for autism might be able to avoid autism was also introduced to the world, bearing in mind science headlines might not tell the whole story and when it comes to identifying early autism or autistic traits, we're still missing cases (just in case you didn't know).

February
'What have we learned about autism?' was a post that gave me an opportunity to talk about plural autisms and the impact of comorbidity; some recurrent themes this year as in past ones. February 2015 should however be dedicated to another diagnosis - chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) - and some quite astounding scientific leaps made in terms of definition (see here) and acknowledgement that yes, this is a real condition (see here). This theme continued throughout the year.

March
'Sleep is an issue for quite a few people on the autism spectrum' was part of that meta-analysis tide (see here) and further evidence for the 'over-representation' of bowel issues in autism was provided by MoBa. Autism 'genes' and cognitive ability made some media headlines (see here) and perhaps also important to autism was the idea that inflammation might have some knock-on effects for psychological processes such as social cognitive processing (see here).

April
Supplementary fatty acids might not be cutting the scientific mustard for [core] autism according to some evidence (see here) but when it comes to comorbid issues such as inattention, there may be something more to see at least for some. Tics might be common in adult autism as might the need for further medical screening and care when it comes to the eyes (see here). Discussions on DSM-5 and autism also continued (see here); perhaps relevant to on-going debates about the prevalence (and incidence) of autism (see here).

May
Questions around the number of cases of autism continued in May. Further discussions on a possible relationship between congenital cytomegalovirus (CMV) infection and autism also persisted. Parent training vs. parent education were pitted against each other when it comes to tackling disruptive behaviours in the context of autism (see here). Important comorbidities such as depression (see here) and anxiety (see here) were also examined with autism in mind. And just outside of autism research, were some intriguing discussions about cats and schizophrenia...

June
Although making difficult reading, the topic of maltreatment and autism was discussed (see here). The idea also that employment is a universal cure-all for everyone on the autism spectrum was also challenged alongside a few of those 'stereotypes' about what kinds of jobs might 'fit' people on the autism spectrum best (see here). Enterovirus encephalitis cropped up twice this month with attention-deficit hyperactivity disorder (ADHD) (see here) and also autism-like (see here) in mind. Knowledge of the impact of viruses is spreading well beyond the somatic it seems (see here).

July
'Person with autism or autistic person?' was a question tackled this month. As perhaps expected, it depends on who you ask. The Cochrane Library said 'no' to chelation for autism (see here). Medical comorbidity is high in adult autism (see here) in case you didn't know; and added to all that literature about functional bowel issues being elevated in relation to autism, the inflammatory bowel diseases are also seemingly over-represented among people with autism (see here). But beware of sweeping generalisations as per the idea that air pollution might not show a connection to the presentation of autistic traits (at least in Europe).

August
There are 6 questions you might ask when screening for autism apparently, and 1 in 46 children in Canada are estimated to have an autism spectrum disorder (ASD). Optimal outcome and autism also continued its research ascendancy; this time in relation to the impact on psychiatric comorbidity (see here). Maternal obesity during pregnancy and offspring autism risk also got the meta-analysis treatment (see here). Digestive enzymes might have a role to play in some autism (see here) and as for fish oils preventing psychosis... well, there may be quite a bit more to see there (see here) (something potentially relevant to some autism too).

September
The Susan Hyman results based on the examination of a gluten- and casein-free (GFCF) diet for autism finally saw the light of day (see here). Alongside the idea that a ketogenic diet might be indicated for 'some' autism, eyes are starting to turn to the idea that food and nutrition might be key areas for autism research and beyond (see here). More needs to be done to encourage discussions about sex with people with autism, and when it comes to more general education, there are quite a few things that can be done to make school life and school transitions easier for pupils on the spectrum (see here). This perhaps includes paying due respect to the value of physical activity (see here).

October
Has the UK unknowingly started screening for autism? If so, should preferential screening perhaps be in place for those who are blind or visually impaired (see here)? Continuing the GFCF diet trend, no the GFCF diet if done properly is not seemingly inherently unhealthy, and one wonders whether it might also impact on those trillions of wee beasties that call us home (see here). Not every child with autism enjoys or is good at maths (see here) but theatre might hold some important promise as a training ground for various skills.

November
The autism numbers game continues: now 1 in 45 for various possible reasons. Head and brain size in autism is complicated (see here) and quite a few more resources are needed to investigate the significance of low vitamin D levels in relation to autism (see here). Pop quizzes like 'are you on the autistic spectrum?' aren't any substitute for thorough screening and assessment (see here) and although autism is not generally thought of as a life-limiting condition, the premature mortality statistics paint a depressing picture (see here). Oh, and there may be some important immune clues to at least some cases of schizophrenia...

December
The idea that practising some of the martial arts might be a useful pastime for some on the autism spectrum continued to tease us (see here). Rather unusually, camel milk as a potential intervention option for some autism also continued on its double-blind, placebo-controlled odyssey (see here). Slightly more worryingly are the findings suggesting that pregnancy antidepressant use might need further examination when it comes to autism (being careful about how to frame such findings) and that almost forgotten nutritionally related diseases such as scurvy might be making a comeback where autism occurs alongside food selectivity issues (see here). Surely preferential screening is indicated from this and other data on other important nutrients? Oh, and PCOS and autism also got some research attention.

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In amongst the 300+ posts that graced this blog in 2015, it's always a little difficult to pick out just one pieve of research that I thought was really, really interesting. I'm going to suggest that the paper by Wang and colleagues [1] talking about vitamin D levels and autism represents a 'one to watch' area. Vitamin D is seemingly getting everywhere at the moment (see here) but alongside some preliminary findings looking at genetics of the vitamin D receptor gene (see here) with autism in mind, I'd wager that we'll be seeing a lot more on this topic in future times.

And with that I wish you all Seasons Greetings and a very Happy New Year.

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[1] Wang T. et al. Serum concentration of 25-hydroxyvitamin D in autism spectrum disorder: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry. 2015 Oct 29.

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ResearchBlogging.org Wang T, Shan L, Du L, Feng J, Xu Z, Staal WG, & Jia F (2015). Serum concentration of 25-hydroxyvitamin D in autism spectrum disorder: a systematic review and meta-analysis. European child & adolescent psychiatry PMID: 26514973

Tuesday, 30 December 2014

2014 autism research review on Questioning Answers

I like warm hugs...
Time flies doesn't it? And here we are yet again at the end of another research year and a time to reflect on the blogging highlights of 2014 on Questioning Answers. Once again the question is: are we any further forward when it comes to the autism spectrum, it's aetiology, nature and improving quality of life for those on the spectrum?

Once again, I'm going to be optimistic and say 'yes' in some respects we are, as autism research continues at a pace. The caveat being that there is still much more to do, particularly in translating research findings into practical strategies for improving quality of life for those on the autism spectrum and their loved ones who both want and require it.

As per previous years' reviews (see 2011, see 2012, see 2013), month by month I'm gonna give you an indication of some of things I thought were important enough to discuss on this blog, bearing in mind how blogging might just fill a gap between science and the translation of science.

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January
Treatable inborn errors of metabolism in cases of autism was the first entry for 2014, beginning an important theme that the diagnosis of autism or autism spectrum disorder (ASD) should be a starting point for further investigations not an end-point process. The summary paper by Cao and colleagues talking about the gut microbiome and autism (so far) offers a new frontier for part of that research agenda combined with the growing emphasis of comorbidity clusters talked about in a few papers. And yes that includes gastrointestinal (GI) comorbidity, which I'll be coming back to shortly. The introduction of the DSM-5 diagnostic criteria covering autism also received a mention in January with a specific focus on how its use might affect the autism numbers game. The new label of social communication disorder (SCD) also got a mention.

February
Optimal outcome continued to receive research attention and further moves towards the idea that the autisms (plural) might include a number of different developmental trajectories. Anti-brain antibodies and autism was another theme in receipt of further study too, but with a few caveats still remaining. The fantastic resource that is the Taiwan National Health Insurance Research Database (NHIRD) continued to give in research terms as per the curious suggestion that a diagnosis of asthma might be a risk factor for autism. A few other areas previously discussed in the autism research literature also got further attention as per findings on bumetanide and autism and issues with the BCKDK gene in relation to at least some types of autism.

March
1 in 68. That was the revised autism prevalence estimate from the US CDC with lots of discussions around the hows and whys. Obesity and autism also continued to receive some well-deserved research attention reflective of another important focus in 2014 looking at the physical health and activity levels of those on the autism spectrum. A specific female phenotype of autism was also a discussion point this month. More generally, inflammation in relation to psychiatry was also covered.

April
I fulfilled a lifelong ambition in April 2014 when my book was published. One of the prominent themes of the book was how the use of a gluten- and/or casein-free diet might be indicated for 'some' autism, something which may very well tie into some interesting work done on the opioid antagonist naltrexone with autism in mind. Those GI issues that some people have been talking about for many, many years with autism in mind also continued to receive supporting research evidence on their over-representation in the autism spectrum. The paper from Suzanne Goh and colleagues talking about mitochondrial dysfunction being part of a neurobiological subtype of autism also represents an important addition to the research in that area.

May
'Environment as important as genes in autism' was one of the sentiments expressed by the findings from Sven Sandin and colleagues looking at heritability and relative recurrence risk with autism in mind. Continuing that theme was an interesting case report about autism following enterovirus encephalitis and even further congential CMV infection as potentially being related to some offspring autism. The paper from Luke Taylor and colleagues concluding that vaccines were not associated with autism (via meta-analysis) created some column inches, albeit including one paper which itself became the topic of quite a bit of discussion. Again with some self-indulgence in mind, my small contribution to a paper on formulating low dose naltrexone into a cream also hit the peer-reviewed shelves. Not exactly autism-relevant for now but...

June
What should autism research focus on? That was the question asked (and answered) by the paper from Pellicano and colleagues. The answer varied according to who was asked but it appears translational research impacting on day-to-day life is what is required more often than not. Sorry to keep going on about optimal outcome and autism but yet another paper was published on this topic and for the first time, the suggestion that certain intervention strategies might make a difference was presented. Vitamin D and autism is a topic in the research ascendancy in 2014 particularly following the results presented by Eva Kočovská and colleagues. I also covered the sunshine vitamin/hormone from another point of view in June: depression and vitamin D which might be relevant to comorbidity with autism in mind. Kata training might be a good way to keep in shape and help with a few other issues associated with autism was the conclusion reached in a post on the use of martial arts. And finally, cytokine involvement in autism got a meta-analysis concluding that there is potentially much more to see in this research area. I for one wouldn't disagree with that last sentence.

July
The document on medical comorbidities occurring alongside a diagnosis of autism from the parent group Treating Autism here in the UK was published. Free to download and pretty comprehensive is the recommendation that I would give, highlighting again that a diagnosis of autism is a starting point not an end-point for further clinical scrutiny. Mercury exposure and autism or ADHD (attention deficit hyperactivity disorder) got it's own meta-analysis suggesting that there may be more to see when it comes to certain sources of the heavy metal mercury. Staying on the topic of heavy metals and childhood development, lead (Pb) exposure also got a further research battering when it comes to neurodevelopmental outcome. There is seemingly very little good to say when it comes to lead exposure particularly during childhood. Gait issues and joint hypermobility in relation to the autism spectrum was discussed, again with the requirement for further work in this potentially important area. And the research net is seemingly closing in on how prenatal valproate exposure might affect developing brains.

August
Bipolar disorder might be frequent in adult Asperger syndrome was the conclusion reached by Vannucchi and colleagues. But it might not be straight-forward to diagnose. The more classical relationship between some autism and learning disability (intellectual disability) was also considered from a prevalence point of view. Continuing the comorbidity theme was the suggestion that three-quarters of youth with an ASD might meet the criteria for ADHD and that psychosis might be more likely to follow a childhood neurodevelopmental diagnosis. Real ESSENCE or autism plus in action. Oh, and beware the hype around oxytocin and [all] autism...

September
Another diagnosis got pluralised... the schizophrenias (apparently). Sally Rogers and colleagues talked treating autism very early with again, the requirement for a lot more work in this area. The difference between DSM-5 and DSM-IV autism diagnoses were also highlighted. Zinc and copper got discussed with autism in mind, and more evidence of a complicated relationship between anxiety, sensory issues and gut problems was put forward by Micah Mazurek and colleagues. Gut issues were also proposed to be a factor potentially impacting on the absorption and bioavailability of medications used for some people with autism. Slightly outside of autism research, epigenetics got a first look at Chronic Fatigue Syndrome (CFS).

October
[Most] children with autism do not lack the capacity to engage in physical activity but for some reasons, activity levels are down compared with those not on the autism spectrum. Pregnancy infection might elevate the risk of offspring autism was the conclusion from Lee and colleagues. There was more to see when it came to vitamin D supplementation, both with autism in mind and perhaps with other conditions in mind too, although I hasten to add that I'm not giving medical or clinical advice on this or any topic. How stable is a diagnosis of Asperger syndrome was the question asked by Helles and colleagues, and when it comes to anxiety and the autism spectrum, are we talking about an intolerance of uncertainty as a primary factor? Oh, and remember SCD? Well, it might just be the catch-all label for the broader autism phenotype, and of course, broccoli and autism, the mechanism for which might also tie into the growing suggestion that air pollution might affect autism risk.

November
More from Pellicano and colleagues was published on the topic of autism research, and where autism research producers and consumers agree and disagree. The growing suggestion of autism or autistic traits appearing in some cases of Down's syndrome also gathered pace with the suggestion of a new clinical entity: Down Syndrome Disintegrative Disorder. Metabolomics and autism was another research topic with a growing fan base as per the [monster] paper by Paul West and colleagues. The pendulum swung again on the question of what factors might be linked to the increasing numbers of cases of autism being diagnosed (at least up to the late 1990s). And then there was leaky gut... and where that concept might be heading with quite a few conditions in mind. There was also a new player introduced to autism research from the cascade of compounds derived from everyone's favourite aromatic amino acid tryptophan: N-acetylserotonin - watch this space?

December
'Rather than using just one parameter when looking at potential biomarkers for autism, why not use several' was the very logical thinking by Yang and colleagues looking at cytokines and cortisol as a potential diagnostic tag-team. I can't disagree with their strategy if perhaps worrying a little about the term 'biomarker' when applied to all autism, heterogeneity, comorbidity and all. The diagnosis of autism is seemingly protective of nothing when it comes to other medical comorbidity as per the findings from Chiang and colleagues looking at the small but present increased risk of cancer. I tried not to sensationalise that paper but at the same time didn't want to shy away from such evidence-based findings. Telomeres, the shoelace tips of chromosomes got a mention as did an overview of the (non)link between smoking during pregnancy and offspring autism risk (with caveats). The blogging year ended as is started with a look at another inborn error of metabolism with autism in mind. 'Screening' seems to be the important word when it comes to such issues...

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So there you have it. Another year in the life of Questioning Answers and another year of autism research. With all the optimism and enthusiasm I have for such studies and investigations, there is still an awfully long way to go before anyone can start celebrating about how lives have been 'transformed' and inequalities reduced as a result. The Pellicano studies in particular, provide a stark reminder of how little we still know about autism and how far we need to go to make research truly translational including that of murine and related research.

At this point, I would normally pick one paper which really set a new standard in autism research in 2014. Given however the amount of research blogged about this year and some real moves towards 'big data' (be that based on that Taiwanese Insurance Database or other datasets) I'm struggling to select just one piece of research. So instead, three papers which I thought made an impact:

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Cytokine aberrations in autism spectrum disorder: a systematic review and meta-analysis. (Masi and colleagues).

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. (Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators)

Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder. (Goh and colleagues).

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And just before I go, a few tributes celebrating the lives of some of those who brought their considerable experience and expertise to bear on autism research: Lorna Wing, Elizabeth Newson and Paul Patterson. May you rest in peace.

Thanks for looking in, seasons greetings and a Happy New Year to all. Back in 2015 with lots more.

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ResearchBlogging.org Masi A, Quintana DS, Glozier N, Lloyd AR, Hickie IB, & Guastella AJ (2014). Cytokine aberrations in autism spectrum disorder: a systematic review and meta-analysis. Molecular psychiatry PMID: 24934179





ResearchBlogging.org Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, & Centers for Disease Control and Prevention (CDC) (2014). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002), 63 (2), 1-21 PMID: 24670961





ResearchBlogging.org Goh S, Dong Z, Zhang Y, DiMauro S, & Peterson BS (2014). Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging. JAMA psychiatry, 71 (6), 665-71 PMID: 24718932