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Autism research and other musings

Paul Whiteley
1,226 posts

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  • April 8, 2017
  • 04:13 AM
  • 329 views

One more time folks... pregnancy folate and autism risk

by Paul Whiteley in Questioning Answers

Folate yet again on this blog? Sorry but that's just how the peer-reviewed papers have fallen..."Maternal folate supplementation during pregnancy may reduce the risk of ASD [autism spectrum disorder] in the offspring, especially in the Western population."So said the meta-analysis by Yu and colleagues [1] reporting on a topic that has seen quite a lot of research interest down the years (see here). Authors this time around cumulatively examined data for some 4,500 cases of autism compared w........ Read more »

  • April 7, 2017
  • 04:48 AM
  • 329 views

Folate-dependent one carbon metabolism and transsulfuration pathways: biomarkers for autism?

by Paul Whiteley in Questioning Answers

I found it a little unusual that the findings reported by Daniel Howsmon and colleagues [1] (open-access) talking about "multivariate statistical analysis presented herein [provided] unprecedented quantitative classification results for separating participants into ASD [autism spectrum disorder] and NEU [neurotypical] cohorts based solely on biochemical data" merited a rapid reply in a prominent science magazine pouring cold water on the results (see here). Not least bec........ Read more »

  • April 6, 2017
  • 02:44 AM
  • 330 views

"a single intravenous infusion of autologous umbilical cord blood" and autism

by Paul Whiteley in Questioning Answers

'Could stem cells offer hope for autism?' went one media headline referencing the very preliminary "phase I, open-label trial" published by Geraldine Dawson and colleagues [1] (open-access) detailing the experiences of a single intravenous infusion of autologous umbilical cord blood in 25 children with "a confirmed diagnosis of ASD [autism spectrum disorder]."Well, the results were promising in respect of important issues such as safety in light of the tenet 'first do no harm': "Assess........ Read more »

Geraldine Dawson, Jessica M. Sun, Katherine S. Davlantis, Michael Murias,, Lauren Franz, Jesse Troy, Ryan Simmons, Maura Sabatos-DeVito, Rebecca Durham, & Joanne Kurtzberg. (2017) Autologous Cord Blood Infusions Are Safe and Feasible in Young Children with Autism Spectrum Disorder: Results of a Single-Center Phase I Open-Label Trial. Stem Cells Translational Medicine. info:/10.1002/sctm.16-0474

  • April 5, 2017
  • 03:14 AM
  • 329 views

Paediatric congenital heart disease and autism risk (again)

by Paul Whiteley in Questioning Answers

"Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates."So said the findings reported by Jessica Bean Jaworski and colleagues [1] who set about "to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders." Covering a topic that ........ Read more »

Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH.... (2017) Rates of autism and potential risk factors in children with congenital heart defects. Congenital heart disease. PMID: 28299880  

  • April 4, 2017
  • 02:55 AM
  • 286 views

Autism, ageing and comorbidity

by Paul Whiteley in Questioning Answers

I'm not spending too much time today on the findings published by Elizabeth Wise and colleagues [1] but did want to bring them to your attention. Looking at the presentation of "comorbidities and behavioral and neuropsychiatric symptoms" in relation to autism in the context of ageing, some important details were noted. Not least that "GI [gastrointestinal] disorders (68.9%) and seizure disorders (23%) were common, and 25.7% of the sample had a BMI [body mass index] >30" wh........ Read more »

  • April 3, 2017
  • 03:10 AM
  • 294 views

Decreased urinary creatinine levels associated with autism (again)

by Paul Whiteley in Questioning Answers

One finding in particular stood out from those reported by Lussu and colleagues [1] following some nifty metabolomic investigations: decreased levels of urinary creatinine in their cohort of participants diagnosed as on the autism spectrum (n=21) compared with "controls (n = 21), these being siblings of autistic patients."Based on the "use of 1 H-NMR metabolomics to analyze the global biochemical signature of ASD [autism spectrum disorder] patients" researchers turned again to a fa........ Read more »

Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, & Francavilla R. (2017) The urinary 1 H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings. Autism research : official journal of the International Society for Autism Research. PMID: 28296209  

  • April 2, 2017
  • 04:10 AM
  • 281 views

On the under-studied populations within the autism spectrum

by Paul Whiteley in Questioning Answers

I don't typically post on a Sunday, but given that today - 2nd April - is World Autism Awareness Day I've decided to make an exception. The theme of today's post is based around the notion that the autism spectrum is truly wide and heterogeneous, and although this is fairly universally acknowledged, the current peer-reviewed research literature on autism is perhaps not yet so accepting. So...Consistent with the idea that scientific research seems to go through cycles of themes/interests, th........ Read more »

Chakrabarti B. (2017) Commentary: Critical considerations for studying low-functioning autism. Journal of child psychology and psychiatry, and allied disciplines, 58(4), 436-438. PMID: 28346760  

  • April 1, 2017
  • 04:16 AM
  • 301 views

Yet more bumetanide and autism findings

by Paul Whiteley in Questioning Answers

Bumetanide, a loop diuretic medicine typically used to treat heart failure, is probably not something that most people would associate with 'attenuating' some of the presented characteristics of autism. This Na-K-Cl cotransporter (NKCC) blocking drug (influencing chloride concentrations in neurons and impacting on the actions of gamma-Aminobutyric acid, GABA) has however made quite a few appearances in the peer-reviewed autism research literature (see here and see here) and beyond........ Read more »

Lemonnier, E., Villeneuve, N., Sonie, S., Serret, S., Rosier, A., Roue, M., Brosset, P., Viellard, M., Bernoux, D., Rondeau, S.... (2017) Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders. Translational Psychiatry, 7(3). DOI: 10.1038/tp.2017.10  

  • March 31, 2017
  • 02:51 AM
  • 285 views

Coeliac disease, autism and more

by Paul Whiteley in Questioning Answers

"Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD [attention-deficit hyperactivity disorder], ASD [autism spectrum disorder], and intellectual disability."So said the study findings reported by Agnieszka Butwicka and colleagues [1] who, yet again, relied on one of ........ Read more »

Butwicka A, Lichtenstein P, Frisén L, Almqvist C, Larsson H, & Ludvigsson JF. (2017) Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study. The Journal of pediatrics. PMID: 28283256  

  • March 30, 2017
  • 03:12 AM
  • 288 views

[Objective] exposure to flame retardants and social behaviours

by Paul Whiteley in Questioning Answers

Although a few details of the study reported by Shannon Lipscomb and colleagues [1] (open-access) interested me, I was particularly taken by their use of "a silicone passive wristband sampler [worn] around his/her wrist or ankle" to "assess the child’s exposure to flame retardants" as part of their investigation "to determine if flame retardant exposure was associated with measurable differences in social behaviors among children ages 3–5 years."I've covered the topic of potential adver........ Read more »

Lipscomb ST, McClelland MM, MacDonald M, Cardenas A, Anderson KA, & Kile ML. (2017) Cross-sectional study of social behaviors in preschool children and exposure to flame retardants. Environmental health : a global access science source, 16(1), 23. PMID: 28274271  

  • March 29, 2017
  • 02:54 AM
  • 293 views

L-methylfolate administration and autism: a case report

by Paul Whiteley in Questioning Answers

I should have really titled this post 'another case report' given yesterday's entry on this blog talking about a case of [untreated] PKU and autistic behaviours/diagnosis. Here I am again talking about another N=1 with autism in mind and specifically the findings reported by Kim Siscoe & David Lohr [1] on how: "L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate r........ Read more »

  • March 28, 2017
  • 04:34 AM
  • 302 views

Presenting with the symptoms of autism and then diagnosed with phenylketonuria (PKU)

by Paul Whiteley in Questioning Answers

The case report from Betül Mazlum and colleagues [1] (open-access available here) illustrates once again that (a) the plural 'autisms' exist (see here) and (b) screening for inborn errors of metabolism (IEM) should be an important part of any autism assessment (see here). Indeed, screening for IEM should really be part of assessments for many different labels...Detailing a case report wherein a 3-year old child came to clinical attention for "speech delay and social problems", the authors ........ Read more »

Mazlum B, Anlar B, Kalkanoğlu-Sivri HS, Karlı-Oğuz K, Özusta Ş, & Ünal F. (2016) A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood. The Turkish journal of pediatrics, 58(3), 318-322. PMID: 28266201  

  • March 27, 2017
  • 04:38 AM
  • 307 views

Detecting stereotypic behaviours through technology

by Paul Whiteley in Questioning Answers

"We have designed an Internet-of-Things (IoT) framework named WearSense that leverages the sensing capabilities of modern smartwatches to detect stereotypic behaviors in children with autism."So said the paper by Amir Mohammad Amiri and colleagues [1] (open-access available here) and, I have to say, something that really piqued my [research] attention. Describing how authors managed to design and construct a smartwatch with the ability to "detect three behaviors, including hand flapping, pa........ Read more »

Amiri AM, Peltier N, Goldberg C, Sun Y, Nathan A, Hiremath SV, & Mankodiya K. (2017) WearSense: Detecting Autism Stereotypic Behaviors through Smartwatches. Healthcare (Basel, Switzerland), 5(1). PMID: 28264474  

  • March 25, 2017
  • 05:37 AM
  • 300 views

Including the "full intellectual range" in autism vision research

by Paul Whiteley in Questioning Answers

The paper by Alyse Brown and colleagues [1] (open-access available here) is probably not going to gain any significant media headlines (unlike other recent studies - see here and see here) but does cover a rather important question regarding the autism research landscape: how representative is autism research?Specifically looking at the collected research on visual processing (distinct from physical issues with the eyes that still require greater awareness) with autism in mind, the authors ........ Read more »

  • March 24, 2017
  • 03:46 AM
  • 284 views

Autism and anxiety disorder: zooming in on the details

by Paul Whiteley in Questioning Answers

Although it is not necessarily new news that (a) autism rarely exists in some sort of diagnostic vacuum, and (b) that some of the comorbidity 'over-represented' when it comes to autism can actually be more disabling than autism itself, there are still more investigations to be done.The paper by Vicki Bitsika & Christopher Sharpley [1] represents an example of how autism science is starting to go past the whole 'is there a connection between...' bit when it comes to autism and various comorbi........ Read more »

  • March 23, 2017
  • 04:02 AM
  • 298 views

Congenital cytomegalovirus (CMV) infection and autism continued

by Paul Whiteley in Questioning Answers

I wanted to briefly talk about the paper by Francesca Garofoli and colleagues [1] on congenital cytomegalovirus (CMV) infection and autism not because it contains any novel data (see here), but because it reminds us that the potential 'pathways' to a diagnosis of autism are multiple and not necessarily 'pre-programmed' as per the 'it's all genetic' arguments that frequently figure in various domains.Congenital CMV infection refers to the transmission of CMV - "a common virus that belongs to the ........ Read more »

  • March 22, 2017
  • 04:08 AM
  • 274 views

On genotype and environmental exposure patterns

by Paul Whiteley in Questioning Answers

I was rather interested to read the paper by Michela Traglia and colleagues [1] (open-access available here) concluding that: "maternal and fetal genetic make-up are important determinants of mid-gestational maternal circulating levels of some environmental organohalogens." Interested because, in these days of gene-environment interactions being applied to just about everything, the detail that is missing - which genes might potentially be linked to which environmental factors - has not yet........ Read more »

  • March 21, 2017
  • 03:57 AM
  • 313 views

PACE trial recovery data and chronic fatigue syndrome - a reply

by Paul Whiteley in Questioning Answers

I'd encourage readers interested in the background to the response paper by Michael Sharpe and colleagues [1] to have a look at a previous blogging occasion when the topic of the PACE trial, chronic fatigue syndrome (CFS) and 'recovery' were discussed (see here).Suffice to say that this latest paper is a reply to one published by Carolyn Wilshire and colleagues [2] who concluded that: "The claim that patients [with CFS] can recover as a result of CBT [cognitive behaviour therapy] ........ Read more »

M Sharpe, T Chalder, AL Johnson, KA Goldsmith, & PD White. (2017) Do more people recover from chronic fatigue syndrome with cognitive behaviour therapy or graded exercise therapy than with other treatments?. Fatigue: Biomedicine, Health , 1-5. info:/10.1080/21641846.2017.1288629

  • March 20, 2017
  • 04:13 AM
  • 303 views

ALSPAC says no to cat ownership - psychosis risk hypothesis but...

by Paul Whiteley in Questioning Answers

"While pregnant women should continue to avoid handling soiled cat litter, given possible T. gondii exposure, our study strongly indicates that cat ownership in pregnancy or early childhood does not confer an increased risk of later adolescent PEs [psychotic experiences]."So said the findings reported by Francesca Solmi and colleagues [1] (open-access) who brought a smile to any reader of the title of their paper: "Curiosity killed the cat: no evidence of an association between cat ownershi........ Read more »

  • March 18, 2017
  • 04:58 AM
  • 321 views

HSV-2 gestational infection and offspring autism risk

by Paul Whiteley in Questioning Answers

"In our cohort, high levels of antibodies to herpes simplex virus 2 at midpregnancy were associated with an elevated risk of autism spectrum disorder in male offspring. These findings provide support for the hypothesis that gestational infection may contribute to the pathogenesis of autism spectrum disorder and have the potential to drive new efforts to monitor women more closely for cryptic gestational infection and to implement suppressive therapy during pregnancy."That was the conclusion reac........ Read more »

Milada Mahic, Siri Mjaaland, Hege Marie Bøvelstad, Nina Gunnes, Ezra Susser, Michaeline Bresnahan, Anne-Siri Øyen, Bruce Levin, Xiaoyu Che, Deborah Hirtz.... (2017) Maternal Immunoreactivity to Herpes Simplex Virus 2 and Risk of Autism Spectrum Disorder in Male Offspring. mSphere. info:/10.1128/mSphere.00016-17

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