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  • April 27, 2016
  • 08:35 AM

Your Body Has A Photographic Memory

by Mark Lasbury in As Many Exceptions As Rules

For the first time anywhere - an easy explanation of your immune system in 1500 words! For the low, low price of zero dollars you can find out how your body protects you better the second time you are exposed to a disease. Special bonus offer – we’ll throw in how vaccines work and why you need one every year for the flu, although your old flu vaccines might still be helping you. ... Read more »

  • April 27, 2016
  • 04:30 AM

Should We Drop the Vertical Drop Jump?

by Nicole Cattano in Sports Medicine Research (SMR): In the Lab & In the Field

Performance on the vertical drop jump landing task was not found to be associated with anterior cruciate ligament injury risk in a group of female handball and soccer athletes. ... Read more »

  • April 27, 2016
  • 03:07 AM

The A Word: the science behind...

by Paul Whiteley in Questioning Answers

The A WordI'm not typically inclined to talk about TV programmes on this blog (well, not usually) but today I'm making an exception based on the conclusion of the BBC drama series 'The A Word' last evening.For those who might not know, this [fictional] series charts the ups and downs of a family living in the Lake District whose lives are in one way or another touched by autism as a function of a 5-year old boy diagnosed with the condition. The show had a notable addition to the cast with a very straight-talking Christopher Eccleston appearing (yes, one manifestation of Dr Who) but all the actors provided some pretty sterling performances including the child actor Max Vento, who plays Joe 'the 5-year old boy with autism'.I don't want to go into all the ins-and-outs that the series covered (bearing in mind it was a fictional drama series and not 'real life autism' as per series such as the one by Louis Theroux) but there were a number of themes included that do fall into the peer-reviewed science domain typically covered on this blog. I'd like to briefly cover some of those themes and perhaps provide some short discussion on what they might mean without trying to over-analyse or over-generalise things. I might add that this is my interpretation of the series and readers are also advised to see what others also thought about it.So:WanderingEvery episode of the series opens with Joe happily strolling down a deserted road set against the backdrop of the beautiful Lake District. You'll already note that Joe is a boy and so already we have our first 'stereotype' when it comes to autism. Joe has a 'thing' for music (and some mighty good taste in music I might add) as per his almost constant earphone-wearing, and seems happy on his trails on his own. During most episodes of his wanderings he's met by a friendly couple who know Joe and are happy to return him home. I personally was in two minds about this depiction. As throughout the series, it's obvious that the writers know something about some of the themes in autism (research and practice) and I daresay that this reference is a nod to the idea that autism and wandering has received some much needed research attention. In real-life however, any 5-year old child discovered walking on their own on any road would in all likelihood trigger safeguarding mechanisms should authorities become aware... see episodes 5 & 6.Parental concerns and diagnosisThe process of going from parental concerns about Joe's behaviour to getting a diagnosis is covered in the series. Again keeping in mind that this is fiction, I think many people (certainly on Twitter) saw the most disconnect in this part of the story given (a) the reluctance of the parents - particularly the mother - to 'accept' something might be 'out of place' with Joe's behaviour and (b) the extremely quick time taken for a diagnosis of autism or autism spectrum disorder (ASD) to be given. Without generalising, diagnosis here in the UK is very rarely a quick thing and many parents can and do feel some relief as and when the 'hurdle' of diagnosis has been eventually overcome. Certainly here in the UK, receipt of a diagnosis normally triggers access to important future plans.SchoolingMainstream schooling vs. home schooling is an important issue covered during the series. We for example, see Alison - Joe's mum - worried about how Joe will cope in his village primary school where his social interaction with other children for example, looks to be minimal at best. The storyline in this area was perhaps one of the most powerful parts of the series as parental worries of 'how will my child cope?' intermixed with the variety of emotions viewers watch the family go through. Interestingly, the series did offer something important to this story as Joe himself voices an opinion about his desire to go to school. Granted things might not always be so easily communicated in real-life but the idea of taking into account the child's wants and wishes when it comes to schooling options is perhaps an important one. Later in the series we also see how Joe does make friends at school. Viewers who've seen the series might have also noticed the opening and closing of school doors during these school segments by Joe reflective of what might be considered a ritual or routine - a core feature of autism.Speech and language therapyAgain, outside of the dramatic plot line that follows the introduction of a speech and language therapist (SALT) to the series (who it turns out was bullied by the mother of Joe during her school days), it was indeed useful to see how much impact a good SALT can have on a child with autism. As well as emphasising the 'stopping and starting' of developmental progress that accompanies any child irrespective of the presence of autism or not, the series does well to highlight how a range of professionals can make a real difference to the lives of children on the autism spectrum. Personally, I would have liked to have see the archetypal all-rounder that is the occupational therapist (OT) also included in the storyline but there you go...SleepJoe is seen in pretty much every episode asleep with his night light on followed by a soothing kiss good night from his mother. Again, not one to try and generalise but not every autistic child and their family look forward to such peaceful nights...Parent and family relationshipsThroughout the series, viewers watch how the ups and downs of family life manifest in the relationships between family members. We see for example, how Alison devotes almost her entire existence to Joe in terms of getting a diagnosis and arranging suitable schooling for example, whilst also running a busy household and a business. The stresses and strains tug and pull on important relationships manifesting in various different ways and impacting on various decisions. There are sexual scenes during the series and I know from what some people have written, these were thought of as a distraction to the main storyline. I however think it was important for the writers to include all aspects of parent and family relationships including more intimate moments (bearing in mind the program aired after the watershed). The idea also that autism in the family has the ability to impact on siblings was another important feature of the series. The experiences of Joe's older (half) sister, Rebecca, illustrate how siblings might require additional support when a diagnosis of autism is received in the family but also how they can be very vocal advocates for their brother(s) or sister(s) with autism.Fever and autism (oh and broccoli...)Episode 4 of the series introduced some interesting research-based concepts into the storyline. We see Joe develop an illness and 'fever' following a plan... Read more »

  • April 26, 2016
  • 10:42 AM

You Scratch My Back

by AG McCluskey in Zongo's Cancer Diaries

Where does the idea of a scientist as a crazed loner come from. Let's work together!... Read more »

Brown, R., Deletic, A., & Wong, T. (2015) Interdisciplinarity: How to catalyse collaboration. Nature, 525(7569), 315-317. DOI: 10.1038/525315a  

AG McCluskey. (2016) You Scratch My Back.. Zongo's Cancer Diaries. info:/

  • April 26, 2016
  • 07:02 AM

Gently frying your eyeballs at work

by Rosin Cerate in Rosin Cerate

When I was a kid, I got thwacked in the face with a golf club. It was totally my fault. I was goofing around with my cousins (as one does) and failed to notice one of them winding up for a swing. Ended up with four stitches, the first one just half an inch from my left eye.... Read more »

  • April 26, 2016
  • 03:10 AM

Bacterial origin and transferability of depression?

by Paul Whiteley in Questioning Answers

The paper by Zheng and colleagues [1] caught my eye recently and the interesting ideas that "dysbiosis of the gut microbiome may have a causal role in the development of depressive-like behaviors" and "transplantation of GF [germ-free] mice with ‘depression microbiota’ derived from MDD [major depressive disorder] patients resulted in depression-like behaviors compared with colonization with ‘healthy microbiota’ derived from healthy control individuals."Bearing in mind the focus on mice not people in these results, it's not necessarily new news that the trillions of bacteria that call our gut home might be doing so much more than just helping to digest food and producing the odd vitamin or two. I've covered the concept a few times on this blog (see here for example) and how the so-called gut-microbiota-brain axis is gaining some scientific ground [2].Whilst there are still quite a few more investigations to do in this area, this is not the first time that elements of the gut microbiome have been implicated in a complex condition like depression (see here) including how certain routinely available medicines might also show some involvement (see here). Zheng et al elaborate on some of the types of bacteria that might play a role in their results - "the gut microbiotic compositions of MDD patients and healthy controls were significantly different with MDD patients characterized by significant changes in the relative abundance of Firmicutes, Actinobacteria and Bacteroidetes" - but I think we have to be a little cautious about casting 'blame' just yet. The gut houses quite a lot more than just bacteria y'know and it's not outside the realms of possibility that elements of the gut virome for example, might also be able to exert some effect.The idea of potential 'transferability' or transmission of depression [3] as a function of gut bacteria or other elements also gathers ground based on the Zheng findings. Accepting that familial transmission of depression is not an entirely new concept, the idea that genetic and other non-genetic factors might be complimented by sharing a similar gut microbial profile is a tantalising idea. Not least also because there is the prospect of 'changing' the gut microbiome [4] and potentially impacting on the the presentation of at least some 'types' of depression [5] alongside various other conditions. I say this also with the understanding that depression is a complicated condition and that various other 'biological' factors might also play an important role in presentation (see here and see here)...But this is interesting work.Music - and yet again, The Gimme Gimmes with I will survive...----------[1] Zheng P. et al. Gut microbiome remodeling induces depressive-like behaviors through a pathway mediated by the host’s metabolism. Molecular Psychiatry. 2016. April 12.[2] Rogers GB. et al. From gut dysbiosis to altered brain function and mental illness: mechanisms and pathways. Molecular Psychiatry. 2016. April 19.[3] Canli T. Reconceptualizing major depressive disorder as an infectious disease. Biology of Mood & Anxiety Disorders. 2014;4:10.[4] Evrensel A, Ceylan ME. The Gut-Brain Axis: The Missing Link in Depression. Clinical Psychopharmacology and Neuroscience. 2015;13(3):239-244.[5] Dinan TG. et al. Psychobiotics: a novel class of psychotropic. Biol Psychiatry. 2013 Nov 15;74(10):720-6.----------Zheng, P., Zeng, B., Zhou, C., Liu, M., Fang, Z., Xu, X., Zeng, L., Chen, J., Fan, S., Du, X., Zhang, X., Yang, D., Yang, Y., Meng, H., Li, W., Melgiri, N., Licinio, J., Wei, H., & Xie, P. (2016). Gut microbiome remodeling induces depressive-like behaviors through a pathway mediated by the host’s metabolism Molecular Psychiatry DOI: 10.1038/mp.2016.44... Read more »

  • April 25, 2016
  • 04:30 AM

Patient-Reported Outcome Measures Are Associated to Biochemical Markers

by Jane McDevitt in Sports Medicine Research (SMR): In the Lab & In the Field

Poor scores on the Knee Osteoarthritis Outcome Score and Tegner Activity Scale may be associated with elevated biomarker concentration levels that reflect collagen turnover.... Read more »

  • April 25, 2016
  • 02:15 AM

Parenting a child with autism or ADHD: what the science says...

by Paul Whiteley in Questioning Answers

I'm talking about parenting again today. Two papers are served up for your reading interest today, providing an important 'science-based' perspective on the general experience of parenting a child who is also diagnosed with an autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD).The first paper by Britt Laugesen and colleagues [1] "aimed to identify and synthesize the best available evidence on parenting experiences of living with a child with attention-deficit hyperactivity disorder, including their experiences of healthcare and other services." Their review (whose protocol can be seen here), based on over 20 research articles, was able to boil down various study findings into 15 categories or themes. Without plagiarising, they were: "an emotional roller coaster between hope and hopelessness; mothers as advocates in a battlefield within the system and family; parental experiences in a crossfire of blame, self-blame, and stigmatization; shuttling between supportive and nonsupportive services and professionals; routines, structures and strategies within everyday life; and despite multiple challenges, it is not all bad."The second paper by Khim Lynn Ooi and colleagues [2] (open-access) sought to do a similar thing but with autism (ASD) in mind; coming up with four common themes centred on: "1) The Parent, 2) Impact on the Family, 3) Social Impact, and 4) Health and Educational Services." Within each of these domains, various discussion points were identified covering areas as diverse as 'coping with autism and the child' to 'experience with health services'. As per the final item included in the Laugesen paper on parenting a child with ADHD, raising a child with autism was also described as "not all doom and gloom."Combined, these papers provide some important details about what might be further done to improve child and parent outcomes as and when autism or ADHD (or both) are suspected or diagnosed. I appreciate that it is easy for me to say this (sat here just blogging about research) and change is often a very slow process. As I've hinted in previous posts, change also needs to be accompanied by additional resources and money, which in these austere times is not an easy thing to come by.But if there is a bottom line I do think it should be a sentence from the Ooi paper: "The provision of timely, adequate, and continuous support to parents is therefore important in empowering parents to adapt to the lifetime diagnosis of autism, which can be addressed by improvements in public awareness, policy making, and health care practices." Science doesn't necessarily agree with the whole 'lifetime diagnosis of autism' as being applicable to every case (see here) but in particular, I'd champion the idea that 'health care practices' could be modified when it comes to autism (and ADHD) insofar as ensuring that a diagnosis does not lead to a 'second-class citizen' healthcare experience. Words like 'oh, it's just part of their autism' should be heard less and less (see here) as other research seems to agree on the need to focus on "physical well-being" [3]. As to the ideas about policy making and improvements in public awareness, well policy changes are good ideas but don't always come with a guarantee in the real world (see 'Autism Act'). As for public awareness, yes, that is also something that should be happening (see 'The A Word') but given the huge amount of diversity present in the autism spectrum, one has to be very careful not to portray too generalised an 'image' of what autism is (and isn't). Snowflakes people, snowflakes.Music: Kennedy by The Wedding Present.----------[1] Laugesen B. et al. Living with a child with attention deficit hyperactivity disorder: a systematic review. Int J Evid Based Healthc. 2016 Apr 7.[2] Ooi KL. et al. A meta-synthesis on parenting a child with autism.  Neuropsychiatric Disease and Treatment. 2016; 12: 745-762.[3] Egilson ST. et al. Quality of life of high-functioning children and youth with autism spectrum disorder and typically developing peers: Self- and proxy-reports. Autism. 2016. April 5.----------Laugesen B, Lauritsen MB, Jørgensen R, Sørensen EE, Rasmussen P, & Grønkjær M (2016). Living with a child with attention deficit hyperactivity disorder: a systematic review. International journal of evidence-based healthcare PMID: 27058250Khan, T., Ooi, K., Ong, Y., & Jacob, S. (2016). A meta-synthesis on parenting a child with autism Neuropsychiatric Disease and Treatment DOI: 10.2147/NDT.S100634... Read more »

Laugesen B, Lauritsen MB, Jørgensen R, Sørensen EE, Rasmussen P, & Grønkjær M. (2016) Living with a child with attention deficit hyperactivity disorder: a systematic review. International journal of evidence-based healthcare. PMID: 27058250  

Khan, T., Ooi, K., Ong, Y., & Jacob, S. (2016) A meta-synthesis on parenting a child with autism. Neuropsychiatric Disease and Treatment, 745. DOI: 10.2147/NDT.S100634  

  • April 23, 2016
  • 11:37 PM

Long-term antibiotics for those with chronic symptoms that may or may not be related to Lyme disease

by Microbe Fan in Spirochetes Unwound

A Lyme disease study published a few weeks ago in the New England Journal of Medicine has received a lot of coverage in the press.  According to the abstract of the study, Berende and colleagues conducted a randomized placebo-controlled clinical trial to test the effectiveness of long-term antibiotics in treating "longer-term" symptoms "attributed" to Lyme disease.As many readers of this blog know, treatment of Lyme disease is a controversial topic.  Antibiotics are effective in treating Lyme disease, but 10-20% experience symptoms such as fatigue, muscular aches, and joint pain for at least 6 months following conventional treatment.  The cause of the persisting symptoms is not known.  They could be due to tissue damage caused by the infection, ongoing inflammation, or bacteria that survived antibiotic treatment.  Mainstream medical societies such as the IDSA do not believe that lingering infection is responsible for the persisting symptoms, and they do not recommend retreatment with antibiotics.  Four randomized controlled studies conducted in the U.S. showed little benefit of retreating these patients with antibiotics for up to 3 months.  On the other hand, not-so-mainstream groups such as ILADS dispute the interpretation of the data.  They insist that the treatment groups did show some improvement and that longer treatment regimens lasting longer than 3 months are needed for complete recovery of these patients.There is another group of patients that also suffer from enduring fatigue, muscle aches, and joint pain.  They may or may not have had Lyme disease in the past, but their ongoing symptoms stem from some other condition.  Unfortunately, they may be misdiagnosed with "chronic Lyme disease" and end up being treated for a long time with antibiotics in an attempt to eradicate an infection that they don't have.The new NEJM paper describes a randomized placebo-controlled trial that was conducted in the Netherlands.  281 subjects who had been experiencing chronic symptoms blamed on Lyme disease (fatigue, muscle aches, joint pain) were randomized into three groups.  All three groups were treated with ceftriaxone intravenously for two weeks.  The subjects were next given oral antibiotics or placebo for 12 weeks.  One group was treated with doxycycline, another group with both clarithromycin and hydroxychloroquine, and the third group was given placebo pills.The graph below shows that the physical quality of life, the primary outcome measure, improved a little for all groups.  Because there was no difference in outcome among the three groups, the authors concluded that longer-term antibiotics were no better than short-term antibiotics in alleviating symptoms.  We don't know whether the initial two-week treatment with ceftriaxone had anything to do with the slight improvement since there was no true placebo (antibiotic-free) group.Change in mean SF-36 physical component summary scores before and after treatment period.  Figure 2 from Berende et al., 2016.Why wasn't a true placebo group?  The authors worried about withholding antibiotics from subjects who might have an infection that should be treated.  11% of the subjects hadn't been treated with antibiotics for their symptoms prior to their acceptance into the study.  This wasn't an issue with the earlier U.S. trials since previous treatment of Lyme disease with antibiotics was a requirement for acceptance into those studies, which included true placebo groups.One baffling aspect of the study was the inclusion of subjects who might not have had Lyme disease prior to the appearance of their chronic symptoms. Only a third of the subjects had objective clinical features of Lyme disease (erythema migrans, meningoradiculitis, or acrodermatitis chronica atrophicans) immediately preceding their chronic symptoms, and a little more than a half recalled a tick bite.  Contrast this with the earlier U.S. studies, which only accepted patients with chronic symptoms that followed antibiotic treatment of a well-documented case of Lyme disease.The remaining subjects did not have any objective features of Lyme disease before their chronic symptoms appeared.  The only evidence of a previous episode of Lyme disease was positive antibody testing by Western blot.  However, the antibodies may have been elicited by a Borrelia infection in the distant past.  Their past episode of Lyme disease may not be related to their chronic symptoms, which aren't specific for Lyme disease.  Another problem with relying solely on Western blots to diagnose Lyme disease is that false positives occur.  Without additional evidence, it is hard to be sure that their chronic symptoms were related to Lyme disease.Nevertheless, the editorial accompanying the paper expressed support for the relaxed inclusion criteria used to select the subjects for the study:Critics may rightly say that this trial does not truly capture with certainty the consequences of bona fide Lyme disease. However, studies with more stringent inclusion criteria have already been conducted, and the approach used by Berende and colleagues probably reflects the common practice in ambulatory care settings, in which patient presentations of fatigue or nonspecific pain prompt serologic checks for Lyme disease, despite evidence suggesting that these tests will not identify a probable cause or result in a treatment benefit.The study population may reflect what's encountered by clinicians in the real world, but for a clinical trial it doesn't seem right to lump those whose chronic problems followed a real episode of Lyme disease with those whose issues had nothing to do with Lyme.  Any benefit of the antibiotics experienced by those who had genuine Lyme disease (assuming that there was any benefit) may have been obscured by the lack of benefit in those whose chronic symptoms aren't related to Lyme disease.Berende and colleagues also defended the length of treatment, which is considered to be on the short end by those who support lengthy courses of antibiotic may be argued that 14 weeks of treatment is insufficient to show a beneficial treatment effect. However, whereas prolonged antimicrobial treatment is not uncommon for various infectious diseases, the purpose of prolonged therapy for such diseases is for the prevention of microbiologic relapse rather than for a delayed onset of clinical alleviation of signs or symptoms. We are not aware of any infectious disease in which the initial effect on signs, symptoms, and laboratory findings is delayed beyond the first 3 months of effective therapy. But the graph above clearly shows that the subjects felt better following the treatment period.  Unfortunately, as I mentioned earlier, the improvement in the quality of life can't be attributed to the antibiotics because there was no true placebo group.With these issues, I'm not sure how this study got published in NEJM.  Regardless of my opinion, it will undoubtedly be cited as additional evidence that long-term antibiotics don't alleviate long-term symptoms that stem from Lyme disease.ReferencesBerende A, ter Hofstede HJ, Vos FJ, van Middendorp H, Vogelaar ML, Tromp M, van den Hoogen FH, Donders AR, Evers AW, & Kullberg BJ (2016). Randomized Trial of Longer-Term Therapy for Symptoms Attributed to Lyme Disease. The New England Journal of Medicine, 374 (13), 1209-20 PMID: 27028911... Read more »

Berende A, ter Hofstede HJ, Vos FJ, van Middendorp H, Vogelaar ML, Tromp M, van den Hoogen FH, Donders AR, Evers AW, & Kullberg BJ. (2016) Randomized Trial of Longer-Term Therapy for Symptoms Attributed to Lyme Disease. The New England Journal of Medicine, 374(13), 1209-20. PMID: 27028911  

Melia MT, & Auwaerter PG. (2016) Time for a Different Approach to Lyme Disease and Long-Term Symptoms. The New England Journal of Medicine, 374(13), 1277-8. PMID: 27028918  

  • April 23, 2016
  • 12:41 PM

Does E. ewingii Cause More Cases of Ehrlichiosis Than Previously Thought?

by Pranab Chatterjee in Zoonoticus

This figure shows the incidence of ehrlichicosis cases by state in 2010 per million persons. Ehrlichiosis was not notifiable in Alaska, Colorado, the District of Columbia, Hawaii, Idaho, Iowa, Nevada, New Mexico, North Dakota or Montana. The incidence rate was zero for Arizona, Connecticut, Indiana, Massachusetts, Oregon, South Dakota, Utah, Vermont, Washington, and Wyoming. Incidence […]... Read more »

Harris, R., Couturier, B., Sample, S., Coulter, K., Casey, K., & Schlaberg, R. (2016) Expanded Geographic Distribution and Clinical Characteristics of Infections, United States . Emerging Infectious Diseases, 22(5), 862-865. DOI: 10.3201/eid2205.152009  

  • April 23, 2016
  • 03:12 AM

Parents on the autism spectrum and 'parenting efficacy'

by Paul Whiteley in Questioning Answers

There are some aspects of the autism research landscape that make for uncomfortable reading. I've covered a few of them on this blog (see here and see here for example) simply because of my belief that science should not be afraid to ask about and try and answer difficult questions.I'd place the paper by Winnie Yu Pow Lau and colleagues [1] in that uncomfortable reading zone as a consequence of their findings related to parenting efficacy as a function of parents who themselves have been diagnosed with an autism spectrum disorder (ASD) among other groupings. With one Tony Attwood on the authorship list, results are reported suggesting that whilst "mothers with ASD had comparable levels of parental efficacy to parents without ASD in the family" fathers with an ASD "had the lowest parental efficacy." The authors recommend that further screening and provisions should be put in place "to build fathers parental efficacy" minus any sweeping generalisations from this data. Parenting efficacy by the way, is thought to be a strong predictor of parenting behaviours potentially onwards being related to various offspring outcomes.As I've mentioned before on this blog, parenting is already a tough job even before any additional issues related to offspring behaviours or diagnoses are added to the mix (see here). Most parents do a good job navigating the various stages of child rearing and would probably have little or no regrets about the way that they eventually did the job. For many parents, to be told about any perceived weaknesses or 'failings' of parenting ability is generally not likely to be taken well considering the amount of time and effort that is devoted to raising a brood. Blood, sweat and tears people...It is with that sentiment in mind that I tread carefully with the Lau findings whilst at the same time acknowledging that parenting efficacy does perhaps need to be further researched under such circumstances. With the ever-increasing numbers of people being diagnosed on the autism spectrum, it is, by mass action, inevitable that more and more adults with an ASD are going to be raising families of their own. There are some quite high profile examples of parents on the spectrum raising children on or off the spectrum and doing it very well, but one should not assume that every family is fortunate to be the same, particularly when one takes into account individual family circumstances (lone parents, more than one child) and factors such as income and housing among others. The emphasis should rightly be on supporting those families when support is needed [2] whilst not coming across as too 'nanny state' or condescending; keeping in mind that the welfare of children is central to all this.As a last point, I am going to query the use of the Autism Spectrum Quotient (AQ) in the Lau study as a measure of autistic traits. This instrument may well cover elements of the autism spectrum but (and it is an important 'but') the presence of those traits might not necessarily be exclusive to autism (see here). From that point of view, further research needs to perhaps be a little more thorough about what exactly is being investigated, also understanding that a historical diagnosis of autism might not necessarily be set in stone and that the diagnosis rarely appears in a diagnostic vacuum - both factors that might impact on the stability of parenting efficacy. Indeed, with that last point in mind, the findings reported by Samyra Jogaib Bonatto and colleagues [3] on [self-reported] ADHD symptoms in parents of children with autism, are also deserving of quite a bit more allied scrutiny too.Music to close, and what else but something that Papa's the world over with have probably heard...----------[1] Lau WY. et al. Parents on the autism continuum: Links with parenting efficacy. Research in Autism Spectrum Disorders. 2016; 26: 57-64.[2] Chong WH. & Kua SM. Parenting Self-Efficacy Beliefs in Parents of Children With Autism: Perspectives From Singapore. Am J Orthopsychiatry. 2016 Apr 14.[3] Bonatto SJ. et al. The prevalence of symptoms of attention-deficit/hyperactivity disorder in parents of children with autism spectrum disorder. Psychiatry Research. 2016. April 5.----------Lau, W., Peterson, C., Attwood, T., Garnett, M., & Kelly, A. (2016). Parents on the autism continuum: Links with parenting efficacy Research in Autism Spectrum Disorders, 26, 57-64 DOI: 10.1016/j.rasd.2016.02.007... Read more »

Lau, W., Peterson, C., Attwood, T., Garnett, M., & Kelly, A. (2016) Parents on the autism continuum: Links with parenting efficacy. Research in Autism Spectrum Disorders, 57-64. DOI: 10.1016/j.rasd.2016.02.007  

  • April 21, 2016
  • 11:23 PM

Developmental regression in autism affects screening results

by Paul Whiteley in Questioning Answers

In today's short post I'd like to bring the findings reported by Lotta Höglund Carlsson and colleagues [1] to your attention and a reminder that developmental regression accompanying autism onset is an important feature for quite a few people.With the aim of looking at the "national, routine 18-month developmental surveillance at Child Healthcare Centres (CHC) on children later diagnosed with autism spectrum disorder (ASD)" in Stockholm County, Sweden, authors reported on the results of said surveillance for those (N=175) diagnosed with autism in terms of those who initially passed this screen and what might be done to increase it's diagnostic utility. Some interesting data emerged.We are told that over a third of the autism group "did not pass the required number of items" included in the screen and this was particularly prominent in those later diagnosed with autism and learning (intellectual) disability. We are also told that adding in additional variables linked to "regulatory problems - crying, feeding and sleeping" (the sorts of things that Kanner himself talked about) might increase the diagnostic yield of the 18 month surveillance by about 10%. But also... "Of those with ASD and ID who had passed, more than one-third experienced developmental regression after 18 months of age."There you have it. Regression is very much part and parcel of quite a few cases of autism and all the chatter about autism being [universally] present during the earliest points of infancy is not necessarily accurate and applicable to all cases. Of course this probably won't be a surprise to many as previous examples of later onset or 'acquired autism' litter the peer-reviewed literature (see here and see here for example). Appreciating that many factors might influence the age at which an autism diagnosis is given (see here) and how the Swedish findings might be important for future work coming out of the UK for example (see here), I'd like to think there is more to do in this area. Y'know everyone keeps talking about the more plural 'autisms' for example (see here), well I'd be minded to suggest that those who passed vs. those that didn't pass early developmental screens might be another comparison to throw into the autism research mix with a focus on phenotypes. And given the previous research conducted by some of the authors on the Höglund Carlsson paper (see here and see here), there may be quite a few other variables that could also be included in future work in this area...----------[1] Höglund Carlsson L. et al. Autism spectrum disorders before diagnosis: results from routine developmental surveillance at 18 months. Acta Paediatrica. 2016. April 8.----------Höglund Carlsson, L., Westerlund, J., Barnevik Olsson, M., Eriksson, M., Hedvall, �., Gillberg, C., & Fernell, E. (2016). Autism spectrum disorders before diagnosis: results from routine developmental surveillance at 18 months Acta Paediatrica DOI: 10.1111/apa.13418... Read more »

Höglund Carlsson, L., Westerlund, J., Barnevik Olsson, M., Eriksson, M., Hedvall, �., Gillberg, C., & Fernell, E. (2016) Autism spectrum disorders before diagnosis: results from routine developmental surveillance at 18 months. Acta Paediatrica. DOI: 10.1111/apa.13418  

  • April 21, 2016
  • 02:23 AM

The inter-pregnancy interval and risk of autism reviewed

by Paul Whiteley in Questioning Answers

"Short IPIs [interpregnancy intervals] are associated with a significantly increased risk of ASD [autism spectrum disorder]. Long IPIs also appear to increase the risk of ASD.So said the results of the systematic review undertaken by Agustín Conde-Agudelo and colleagues [1] into how birth spacing might impact on the risk of a child developing an ASD. Drawing on data from 7 studies that "reported an association between short IPIs and increased risk of ASD" including over 1.1 million children, the authors confirmed what quite a few people already suspected: "children born to women with IPIs of <12 months had a significantly increased risk of any ASD." 'Autistic disorder' a.k.a autism (over other ASDs such as Asperger syndrome) seemed to shoulder the largest risk following a short IPI.Of course we've been here before on the topic of IPI and autism risk (see here and see here) and as such the latest review results are not a complete surprise. What perhaps science does have to start thinking about are the various ways and means that a short IPI might confer additional risk of offspring autism. Personally, I'd initially go with the issue of a 'depletion of micronutrients' as being a prominent possible factor, as per what other research in this area has speculated on (see here). Combined with the so-called 'foetal programming hypothesis' (see here) drawing on the work of the late David Barker and others, the 'nine months that made us' is indeed an extremely important time from a nutritional point of view and potentially very relevant to at least some autism.To close: Victoria Wood - Brief Encounter. RIP mince pie in the eye...----------[1] Conde-Agudelo A. et al. Birth Spacing and Risk of Autism and Other Neurodevelopmental Disabilities: A Systematic Review. Pediatrics. 2016. April 7.----------Conde-Agudelo, A., Rosas-Bermudez, A., & Norton, M. (2016). Birth Spacing and Risk of Autism and Other Neurodevelopmental Disabilities: A Systematic Review PEDIATRICS DOI: 10.1542/peds.2015-3482... Read more »

  • April 20, 2016
  • 09:30 AM

Lucky For Me, I'm Diseased

by Mark Lasbury in As Many Exceptions As Rules

When people are sick we isolate, we feel sorry for them, we avoid them. But we don’t think about the many times that being sick is actually good for your health. One example – vaccines. Many vaccines give you disease to prevent disease. Unfortunately, too many people are foregoing vaccination for their children based on fraudulent data. Think anti-vaxxers don’t affect you because you and your kids are vaccinated? Read on and learn better.... Read more »

Centers for Disease Control and Prevention (CDC). (2012) Pertussis epidemic - washington, 2012. MMWR. Morbidity and mortality weekly report, 517-22. PMID: 22810264  

  • April 20, 2016
  • 04:30 AM

Smoking, Dyspnea and COPD may Predict Complications Following ACL Reconstruction

by Kyle Harris in Sports Medicine Research (SMR): In the Lab & In the Field

Complications following anterior cruciate ligament reconstruction are rare (1.3%). Patients who smoke, have a history of chronic obstructive pulmonary disease, or dyspnea have a greater risk of complications than those that do not.... Read more »

  • April 20, 2016
  • 02:30 AM

Talking therapies impacting on the epigenetics of panic disorder?

by Paul Whiteley in Questioning Answers

The psychologist Oliver James has made some waves recently, coinciding with the publication of his new book, with the suggestion that nurture might be 'outdoing' nature when it comes to various concepts from intelligence to mental health. At times the recent 'debates' in this area have not been pretty as arguments about 'what the science actually says' with regards to [structural] genetics vs. environment have tended to get a little heated, and the word 'blame' being banded around quite a lot. This set in the context of views and opinions of certain relevant disciplines.With all that in mind the paper by Ziegler and colleagues [1] (open-access) perhaps offers an olive branch between the various camps on whether genes or environment play the more important role in relation to something like mental health. Reporting results on "MAOA [monoamine oxidase A] methylation changes during the course of exposure-based cognitive behavioral therapy (CBT) in PD [panic disorder]" the authors describe how: "In a psychotherapy-epigenetic approach, responders and non-responders to a 6-week standardized CBT as defined by the number of panic attacks showed differential dynamics of MAOA methylation during the course of treatment: response was associated with a significant increase in MAOA methylation up to the level of healthy controls, while non-response rather went along with a further decrease in MAOA methylation."In a sort of two-stage study, Ziegler et al first compared the methylation status of the MAOA gene in a small-ish sample of female participants diagnosed with PD (n=28) compared with age- and sex-matched 'not PD' controls. Actually, it wasn't just a case of looking at the gene and saying 'yes it's methylated' or not but rather looking at those little islands on a gene where a methyl group can be added and reporting findings (for 13 of them). Authors reported that as a group, the PD participants showed MAOA methylation differences compared to controls - overall hypomethylation of the gene and "at CpGs 3, 6–9, 12 and 13." Hypomethylation normally means something akin to increased gene expression; as the authors note: "As in a functional in vitro assay decreased methylation has been shown to activate MAOA expression... MAOA hypomethylation might result in a decreased availability of monoamines in the synaptic cleft and thereby confer an increased risk for PD." Authors also reported something of an interesting association between baseline PD severity and MAOA methylation levels.In the second part of the study: "MAOA methylation was furthermore analyzed at baseline (T0) and after a 6-week CBT (T1) in the discovery sample parallelized by a waiting time in healthy controls, as well as in an independent sample of female PD patients (N=20)." The particular type of CBT administered has been detailed in other results [2] as we are also told that: "Pharmacological treatment remained unmodified during the course of CBT" and "patients were instructed to keep smoking behavior constant during the time course of therapy." Researchers reported that: "overall [in the] patient group irrespective of responder/non-responder status, as well as in the control group, MAOA methylation did not change significantly from T0 to T1 for average methylation or at any individual CpG site." When however the CBT group were sub-categorised as 'responders' or 'non-responders' on the basis of 'the number of panic attacks at T1 compared with T0' there was something a little more interesting to see. So: "responders displayed an increase in average methylation after therapy (mean change±s.e., 3.37±2.17%), while non-responders decreased in average methylation (mean change±s.e., −2.00±1.28%; P=0.001)."Without getting too carried away with the Ziegler results and accepting that furrowed brows still accompany talk about epigenetics, the potential implications of this study could be pretty huge. I'm not completely enthralled by the 'talking therapies' it has to be said, and the 'bigging up' of the idea that they are some sort of panacea when it comes to mental health and wellbeing as a whole despite their usefulness in certain contexts. Plurality people, plurality. I am however interested when an association is made between their use and gene expression as a function of responder status even if only one gene and one condition has so far been examined with little other genetic or biochemical factors taken into account. My stance on the whole 'genes vs environment' bit too is that it is rather too simplistic to say just 'one or the other' when it comes to complicated things like human behaviour and the vast heterogeneity that underlies it. For some people it could be more of a genetic thing [2] underlying certain characteristics of a particular condition, for others it might be more non-genetic factors. The N=1 seems to be an important point.If indeed it does turn out that the talking therapies (among various other 'environmental' factors) can impact on gene expression, there could be a few implications. The rise and rise of something like mindfulness (minus the hype) might also find a similar effect and could perhaps be [scientifically] pitted against CBT and other similar intervention hopefuls both in terms of behavioural outcomes and methylation status. Same goes for other potential 'methylation-modifiers' such as exercise for example in light of some changing attitudes in this area (see here). There is also the prospect that with some further science to do, the types of modification to gene expression could eventually be translated into a more biological intervention. Y'know, as per other discussions about the methionine cycle as a source of those methyl groups (see here) or the various agents that can affect methylation practices. Perhaps even looking at the various medications that psychiatry already has in its arsenal as having an epigenetic effect too?More investigation is required.----------[1] Ziegler C. et al. MAOA gene hypomethylation in panic disorder-reversibility of an epigenetic risk pattern by psychotherapy. Transl Psychiatry. 2016 Apr 5;6:e773.[2] Okbay A. et al. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nature Genetics. 2016. April 18.----------... Read more »

Ziegler C, Richter J, Mahr M, Gajewska A, Schiele MA, Gehrmann A, Schmidt B, Lesch KP, Lang T, Helbig-Lang S.... (2016) MAOA gene hypomethylation in panic disorder-reversibility of an epigenetic risk pattern by psychotherapy. Translational psychiatry. PMID: 27045843  

  • April 19, 2016
  • 07:05 PM

Neural stem cell transplants aid traumatic brain injury recovery

by Dr. Jekyll in Lunatic Laboratories

No one knows Traumatic brain injuries (TBI) quite like veterans. Unfortunately, it is a major cause of mortality and morbidity, often causing lifelong disability for those who survive. There is simply no treatment, jut care, but a new study might change that. Stem cell therapy has recently been receiving attention as a way to promote […]... Read more »

Junling Gao, Raymond J. Grill, Tiffany J. Dunn, Supinder Bedi, Javier Allende Labastida, Robert A. Hetz, Hasen Xue, Jason R. Thonhoff, Douglas S. DeWitt, Donald S. Prough.... (2016) Human Neural Stem Cell Transplantation-Mediated Alteration of Microglial/Macrophage Phenotypes after Traumatic Brain Injury. Cell Transplantation. DOI: 10.3727/096368916X691150  

  • April 19, 2016
  • 02:13 AM

Bumetanide for schizophrenia? A case report

by Paul Whiteley in Questioning Answers

Bumetanide - a medicine known as a diuretic - has appeared before on this blog (see here for example) in relation to some preliminary suggestions that at least some types of autism might be sensitive to intervention using this particular compound [1]. The names Lemonnier (Eric) & Ben-Ari (Yehezkel) are a big part of the research group interested in bumetanide and its use outside of more traditional indications; particularly, the focus on its action on NKCC1 onwards to an effect on GABA.Whilst there is still interest in the use of bumetanide for 'some' autism [2], today I'd like to briefly bring your attention to an interesting report on the use of this pharmaceutic in an adolescent diagnosed with schizophrenia [3]. The case report by Lemonnier et al details how following the use of bumetanide, there was a corresponding effect on some of the positive symptoms of schizophrenia; in particular: "Long-term treatment reduced hallucinations significantly." The authors conclude that "Further clinical trials and experimental studies are warranted."Although still early days, I find this to be interesting research if not the first time that NKCC1 has been mentioned with schizophrenia in mind. When one looks at the range of 'effects' potentially linked to the NKCC1 inhibitors such as bumetanide [4] one gets a flavour for what might be potentially linked. As Jaggi et al suggest: "The inhibitors of NKCC1 are shown to produce anxiolytic effects; attenuate cerebral ischemia-induced neuronal injury; produce antiepileptic effects and attenuate neuropathic pain." I'm particularly drawn to the 'antiepileptic effects' bit in particular, as a function of the quite long-standing association between schizophrenia and epilepsy (see here). I'm not putting my eggs in one scientific basket by saying that, but given what is known about NKCC1 and some 'refractory' epilepsy [5] for example, it sounds as good a place to continue investigations as any...Music: Me First & The Gimme Gimmes with a classic... Top of the World.----------[1] Lemonnier E. et al. A randomised controlled trial of bumetanide in the treatment of autism in children. Transl Psychiatry. 2012 Dec 11;2:e202.[2] Grandgeorge M. et al. The effect of bumetanide treatment on the sensory behaviours of a young girl with Asperger syndrome. BMJ Case Rep. 2014 Jan 31;2014. pii: bcr2013202092.[3] Lemonnier E. et al. Treating Schizophrenia With the Diuretic Bumetanide: A Case Report. Clin Neuropharmacol. 2016 Mar-Apr;39(2):115-117.[4] Jaggi AS. et al. Expanding Spectrum of Sodium Potassium Chloride Co-transporters in the Pathophysiology of Diseases. Curr Neuropharmacol. 2015;13(3):369-88.[5] Sen A. et al. Increased NKCC1 expression in refractory human epilepsy. Epilepsy Research. 2007; 74: 220-227.----------Lemonnier E, Lazartigues A, & Ben-Ari Y (2016). Treating Schizophrenia With the Diuretic Bumetanide: A Case Report. Clinical neuropharmacology, 39 (2), 115-117 PMID: 26966887... Read more »

Lemonnier E, Lazartigues A, & Ben-Ari Y. (2016) Treating Schizophrenia With the Diuretic Bumetanide: A Case Report. Clinical neuropharmacology, 39(2), 115-117. PMID: 26966887  

  • April 18, 2016
  • 02:23 AM

'Autism genes' are not just 'genes for autism'

by Paul Whiteley in Questioning Answers

The paper by Ya Wen and colleagues [1] (open-access available here) caught my attention recently with the suggestion that: "ASD [autism spectrum disorder]-associated genes may contribute not only to core features of ASD themselves but also to vulnerability to other chronic and systemic problems potentially including cancer, metabolic conditions and heart diseases." Further: "ASDs may thus arise, or emerge, from underlying vulnerabilities related to pleiotropic genes associated with pervasively important molecular mechanisms, vulnerability to environmental input and multiple systemic co-morbidities."With a quite well renowned inclusion on the authorship list - Martha Herbert - who along with another notable writer penned a pretty good book not so long ago, Wen et al present data pertinent to "an ASD pathway network" where details of ASD-related genes were downloaded from SFARI (Simons Foundation Autism Research Initiative) and gene set enrichment analysis conducted "with the Kyoto Encyclopedia of Genes and Genomes (KEGG) Pathway Database." The idea was to focus in on some of the specific molecular processes attached to the function of those genes and how [some] autism might be but one 'effect' from structural issues with those genes.Some 650 genes were included for analysis. They were eventually sorted into a 'top 50 enriched pathways' pointing to some rather interesting biology. "Two pathways stood out most strongly amongst the pathways in which the SFARI ASD-associated genes participated: the MAPK signaling pathway which was the most highly interactive, and the calcium signaling pathway, which was the most highly enriched pathway." Further: "integrated analysis for MAPK and calcium signaling pathways came together in the process “calcium-PKC-Ras-Raf-MAPK/ERK”" something that the authors speculate might 'link' the genetics of autism to various other conditions - "involved in cancer, heart diseases and metabolic problems." But don't be fooled by the focus on just two pathways as the authors present a rather complicated picture of interacting 'disease' and 'functional' pathways (see here for Figure 2) as old favourites such as 'tryptophan metabolism' crop up alongside mention of mTOR  for example.There is quite a lot to take in with the Wen results and once again, I would encourage readers to have a good read through the data keeping in mind the idea that a diagnosis of autism does not seem to be protective against other comorbidity appearing. The calcium signalling dysregulation noted in particular, is interesting. There is quite a bit of information both in [2] and outside the peer-reviewed domain (see here) on this topic and as per the discussion by Wen et al "if something went wrong with calcium signaling systemically, both cardiac and neural problems might ensue. Although identifying an overlap between neural and cardiac genes ought to make us more attentive to potential comorbidities, the overlap may simply highlight how core molecular functions play roles across diverse systems of the body and brain." Not to try and make connections where none might exist but something like congenital heart disease and autism risk has also been discussed on this blog previously (see here) and one might similarly extend a relationship [3] in light of the Wen findings.As important as the Wen paper is, it is not by any means perfect in terms of "The tendency to study genes that are related to genes already implicated in ASDs" among other things. Indeed, I note that one of the curators of the SFARI database also has something to say. As I've mentioned quite a few times on this blog, structural genetics is an important area for autism research but does not necessarily encompass the entirety of the genetics of autism or any other label. More and more science is starting to appreciate that gene expression is something also quite important and how, minus any hype, the body has quite a few ways of switching genes on or off in various tissue as per the science of 'epigenetics'. Then there are the other elements that make up our genome (see here) as also being potentially important and the idea that the plural autisms (see here) probably reflect more than one pathway onwards to developing of symptoms.But don't let any of that detract from the finding from Wen and colleagues and their potential importance...To close, I can't let today pass without mentioning a certain 'Awakening' film coming to DVD today. My brood and I already have our popcorn ready for this evening and no doubt quite a few more after. Cue the rolling titles...----------[1] Wen Y. et al. Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling. PLoS One. 2016 Apr 7;11(4):e0153329.[2] Schmunk G, Gargus JJ. Channelopathy pathogenesis in autism spectrum disorders. Frontiers in Genetics. 2013;4:222.[3] Splawski I. et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31.----------Wen Y, Alshikho MJ, & Herbert MR (2016). Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling. PloS one, 11 (4) PMID: 27055244... Read more »

  • April 16, 2016
  • 05:20 AM

Long terms effects of communication by gesture and autism: a case report

by Paul Whiteley in Questioning Answers

As per previous entries on this blog, I'm not at all adverse to the idea that case reports (the so-called N=1) can offer some important insights into a heterogeneous (dare I say 'plural') condition like autism. Today, I'm once again heading down this route as I bring to your attention the letter from Webster and colleagues [1] talking about a 40 year follow-up note "About a Boy with Autism Taught to Communicate by Gestures when Aged Six."Harking back to a paper published by some of the authors in 1973 [2] (published in the same journal albeit under a different title name), Webster et al provide some important details on how Geoff, a then 6-year old boy, was taught "a sign-language program" and how "at the time, it seemed to help Geoff and many other children." Fast forward some 40+ years and the authors note that things have changed but at the same time remained pretty much the same for Geoff. So: "Geoff has hung onto the signs taught to him early on" but also: "Geoff now “speaks” as he signs some words. This speech is easier to understand if you see him every day than if you see him only now and then." Indeed his vocabulary, whilst perhaps limited by other standards, does include many important words, mostly signed but some either said verbally or paired verbally with signing. Outside of things like food preferences, I was particularly happy to see that various emotions and states are represented in his vocabulary; never underestimate the power that being able to tell someone that you are 'happy' or 'angry' can bring to a person."His communications, both verbal and gestural, are constantly evolving to help him to express his wishes, and he seems very excited when he has made clear his needs or wants and we have understood them." What that sentence tells us is that communication is both a vital bridge and something that should be constantly 'worked on' when it comes to autism [3]. In these days where quite a lot of focus has turned towards the usefulness of early intervention for autism (see here for example), the message that learning is a lifelong thing can often get lost in the noise. I might add that said learning might be made a little easier by the rapid rise in technology [4].Finally, I think it is important to draw your attention to another aspect of the Webster letter in terms of the use of residential and supported living arrangements and the autism spectrum. In line with the idea that the autism spectrum is truly wide and heterogeneous is the reality that for quite a few people, lifetime residential placement and care are an important part of their lives. Geoff, we are told "adjusted well to the residential setting" and continues to enjoy life in that setting. The authors acknowledge that despite their success in teaching sign to people like Geoff: "we tended to underestimate the long-term services that many of these children, as they grow into adolescence and adulthood, do actually require." I daresay that those sentiments ring as true today as they did 40 years ago.To close, yet another DC comics film coming soon with an excellent trailer soundtrack...----------[1] Webster CD. et al. Lessons that Linger: A 40-Year Follow-Along Note About a Boy with Autism Taught to Communicate by Gestures when Aged Six. J Autism Dev Disord. 2016. March 28.[2] Webster CD. et al. Communicating with an autistic boy by gestures. J Autism Child Schizophr. 1973 Oct-Dec;3(4):337-46.[3] Mulhern T. et al. A systematic review and evaluation of procedures for the induction of speech among persons with developmental disabilities. Dev Neurorehabil. 2016 Apr 8:1-21.[4] Lorah ER. et al. A Systematic Review of Tablet Computers and Portable Media Players as Speech Generating Devices for Individuals with Autism Spectrum Disorder. J Autism Dev Disord. 2015 Dec;45(12):3792-804.----------Webster, C., Fruchter, D., Dean, J., Konstantareas, M., & Sloman, L. (2016). Lessons that Linger: A 40-Year Follow-Along Note About a Boy with Autism Taught to Communicate by Gestures when Aged Six Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-016-2773-x... Read more »

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