Paul Whiteley

1223 posts · 668,551 views

Autism research, research blogging and health science stuff (picture is accurate)

Questioning Answers
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  • September 10, 2012
  • 05:04 AM
  • 674 views

Maternal IgG antibodies and offspring autism

by Paul Whiteley in Questioning Answers

Baby, baby @ Wikipedia  I'm acutely aware that many of the autism and related research papers that I discuss on this blog have the ability to be construed in more than one way.Take for example the collected data being produced on de novo mutations and older dads as being a risk factor for autism. The message - particularly in the accompanying media - emerging from that body of work suggests that paternal age might well have the ability to affect the risk of offspring developing autism. Inde........ Read more »

  • September 6, 2012
  • 06:48 PM
  • 873 views

BCKDK mutations: a treatable form of autism?

by Paul Whiteley in Questioning Answers

The Nature headline reads: Amino-acid deficiency underlies rare form of autism. My interest is piqued. The paper by Novarino and colleagues* suggests "autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome". My interest is most definitely piqued. Hence therefore this very quick post (yeah right!) on some potentially very important results.Let's rewind a bit first. I've talked about amino acids and autism (and schizop........ Read more »

Gaia Novarino1,*,†, Paul El-Fishawy2,*, Hulya Kayserili3, Nagwa A. Meguid4, Eric M. Scott1, Jana Schroth1, Jennifer L. Silhavy1, Majdi Kara5, Rehab O. Khalil4, Tawfeg Ben-Omran6, A. Gulhan Ercan-Sencicek7, Adel F. Hashish4, Stephan J. Sanders7, Abha R. , Hebatalla S Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, & Joseph G. Gleeson. (2012) Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. info:/10.1126/science.1224631

  • September 6, 2012
  • 07:59 AM
  • 759 views

PCB congeners and 15q11-q13 duplication autism

by Paul Whiteley in Questioning Answers

Contains PCBs @ WikipediaThe science news is currently awash with talk about results from the Encyclopedia of DNA Elements (ENCODE) project (see here for a good description). The net results have been summarised by quite a few media outlets including the BBC, including the suggestion that junk DNA might not be as junk as first thought (see this post from MJ over at Autism Jabberwocky).I was interested to see that the words DNA methylation cropped up quite a few times during the course of th........ Read more »

  • September 4, 2012
  • 04:18 AM
  • 930 views

Dried blood spots, cytokines and autism

by Paul Whiteley in Questioning Answers

Thank you Robert Guthrie @ WikipediaThe Nature website recently carried an interesting headline: "Archived blood spots could be epigenetic jackpot" based on a recent study by Huriya Beyan and colleagues* on the application of DNA methylomics to stored Guthrie cards to study early infant epigenetics.Just in case this makes no sense to you, the basic suggestion is that all those dried blood spots taken from days old infants to test for various inborn errors of metabolism like PKU, c........ Read more »

  • September 2, 2012
  • 05:16 AM
  • 1,338 views

C1q activation and schizophrenia

by Paul Whiteley in Questioning Answers

The Doorman @ WikipediaI'm back to schizophrenia with this post based on another very interesting paper by Dr Emily Severance and colleagues* describing some of the potential ins and outs of C1q activation, diet and immune function.Regular readers of this blog might remember the last offering from Dr Severence et al on gastrointestinal (GI) inflammation and immune activation in cases of schizophrenia (see here**). The net finding suggesting that inflammation might tie into permeability of the GI........ Read more »

Severance EG, Gressitt K, Halling M, Stallings CR, Origoni AE, Vaughan C, Khushalani S, Alaedini A, Dupont D, Dickerson FB.... (2012) Complement C1q formation of immune complexes with milk caseins and wheat glutens in schizophrenia. Neurobiology of disease. PMID: 22801085  

  • August 29, 2012
  • 07:25 PM
  • 995 views

What are the early behavioural signs of autism?

by Paul Whiteley in Questioning Answers

Baby stare @ Paul Whiteley"Autism is a developmental disorder presenting in early infancy". I think most people would agree with this statement; even those who know very little about autism and its intricacies. I can remember years ago using various videos (yes before DVDs et al there were videos) to demonstrate to groups of students how autism might manifest itself in young children and how presentation can differ from child to child depending on lots of different factors.I struggle to rem........ Read more »

  • August 28, 2012
  • 06:53 AM
  • 918 views

ADTree reloaded: classifying autism based on 7 ADI-R items?

by Paul Whiteley in Questioning Answers

A lengthy quote to begin this post:"Deploying a variety of machine learning algorithms, we found one, the Alternating Decision Tree (ADTree), to have high sensitivity and specificity in the classification of individuals with autism from controls. The ADTree classifier consisted of only 7 questions, 93% fewer than the full ADI-R, and performed with greater than 99% accuracy when applied to independent populations of individuals with autism, misclassifying only one out of the 1962 cases used for v........ Read more »

Dennis P. Wall, Rebecca Dally, Rhiannon Luyster, Jae-Yoon Jung, & Todd F. DeLuca. (2012) Use of artificial intelligence to shorten the behavioral diagnosis of autism. PLoS ONE. info:/10.1371/journal.pone.0043855

  • August 25, 2012
  • 08:02 PM
  • 888 views

Stick with me kid: adhesion molecules and autism

by Paul Whiteley in Questioning Answers

Spider web by Luc Viatour / www.Lucnix.beA paper by Charity Onore and colleagues* from the MIND Institute caught my eye quite recently. The topic was adhesion, and in particular cell adhesion related to immune function; and an analysis of some of the primary players in this sticky process such as the selectins and other interesting molecules including CD31 otherwise known as PECAM-1 (see here for an explanation) in relation to autism. From the outset, I should clarify th........ Read more »

  • August 23, 2012
  • 07:45 AM
  • 1,864 views

De novo mutations, older dads and autism (again)

by Paul Whiteley in Questioning Answers

Those with an interest in autism (and/or schizophrenia) will have probably already seen the headlines discussing the study by Augustine Kong and colleagues* on  the rate of de novo genetic mutations and a father's age as being potentially important for conditions like autism and schizophrenia. For those like me who are still struggling with all things mutation, quite a nice summary of the current research is offered in this Nature commentary accompanying the study.I'm going to briefly focus........ Read more »

Augustine Kong,, Michael L. Frigge,, Gisli Masson,, Soren Besenbacher,, Patrick Sulem,, Gisli Magnusson,, Sigurjon A. Gudjonsson,, Asgeir Sigurdsson,, Aslaug Jonasdottir,, Adalbjorg Jonasdottir,.... (2012) Rate of de novo mutations and the importance of father’s age to disease risk. Nature. DOI: 10.1038/nature11396  

  • August 21, 2012
  • 05:02 AM
  • 845 views

Resurrecting XMRV in Chronic Fatigue Syndrome?

by Paul Whiteley in Questioning Answers

The letters X-M-R-V in relation to Chronic Fatigue Syndrome (CFS) have had their fair share of controversy in recent years. For those who don't know about XMRV - xenotropic murine leukemia virus-related virus - there is ample discussion about this topic on the web or you can browse my past posts covering the story here and here. I'm sure that a feature film or TV mini-series will be made eventually about XMRV and CFS including the back-story of Dr Judy Mikovtis and the whole WPI saga. I'll ........ Read more »

  • August 20, 2012
  • 05:26 AM
  • 1,469 views

Autism and microglia

by Paul Whiteley in Questioning Answers

An interesting paper has appeared by Beumer and colleagues* with the grandiose title: The immune theory of psychiatric diseases: a key role for activated microglia and circulating monocytes. It's an intriguing paper linking specific actions of the immune system on brain areas in connection to various conditions including depression and schizophrenia via a biological entity that seems to be gaining some research interest: microglia.On the basis of this publication I therefore resis........ Read more »

  • August 17, 2012
  • 06:44 AM
  • 1,465 views

Vitamin D and autoimmunity and autism

by Paul Whiteley in Questioning Answers

Heavens above @ Paul WhiteleyThey're at it again. The very marvellous Saudi-Egyptian autism research tag-team that is Gehan Mostafa and Laila Al-Ayadhi and another very, very interesting article titled: Reduced serum concentrations of 25-hydroxy vitamin D in children with autism: relation to autoimmunity* (full-text here).I'd kinda been waiting for an article like this to come along given the shifting Eye of Sauron onto a possible role for the sunshine vitamin in cases of autism. You can fi........ Read more »

  • August 16, 2012
  • 05:54 AM
  • 2,044 views

Are gut problems in autism linked to anxiety and sensory issues?

by Paul Whiteley in Questioning Answers

I'd been waiting to get hold of the recent article by Dr Micah Mazurek and colleagues titled: Anxiety, sensory over-responsivity, and gastrointestinal problems in children with autism spectrum disorders* (abstract here) for quite a few days before posting about it.This paper was always going to catch my eye given the focus on gastrointestinal (GI) problems comorbid to cases of autism. That and the authors connecting issues with anxiety and sensory issues to the presence of such functional G........ Read more »

Mazurek MO, Vasa RA, Kalb LG, Kanne SM, Rosenberg D, Keefer A, Murray DS, Freedman B, & Lowery LA. (2012) Anxiety, Sensory Over-Responsivity, and Gastrointestinal Problems in Children with Autism Spectrum Disorders. Journal of abnormal child psychology. PMID: 22850932  

  • August 14, 2012
  • 08:17 PM
  • 2,377 views

Propionic acid and autism

by Paul Whiteley in Questioning Answers

Another post, another organic acid (!) but please don't click away just yet as I attempt once again not to blind you with science. The topic of the day today is propionic acid (PPA) otherwise known as propanoic acid and the very tentative suggestions of some link to autism. Search on-line for propionic acid and you're quite likely to get lots of industrial chemical information about it including a materials safety data sheet (MSDS) (here) implying that this stuff is toxic, combust........ Read more »

  • August 13, 2012
  • 05:37 AM
  • 841 views

No single SNP associated with autism?

by Paul Whiteley in Questioning Answers

A quote to begin this relatively short post:"Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level."One of the conclusions reached in this article by Richard Anney and colleagues* (full-text). SNPs (single nucleotide polymorphism(s) are the tiny rearrangements in our genetic code which have all but replaced the older research fashion of one gene - one condition from times gone by. The theory ........ Read more »

Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T.... (2012) Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human molecular genetics. PMID: 22843504  

  • August 10, 2012
  • 09:38 AM
  • 1,316 views

Folate and autism: more questions than answers

by Paul Whiteley in Questioning Answers

Athenian sunset @ Paul WhiteleyI don't know if you could tell but my previous few blog posts were a sort of stand-in whilst I took a few days off. Not exactly repeats of favourite soap operas or anything like that, but more like watching some pre-recorded non-league football (soccer) compared to the Premiership live. Suffice to say that I'm back now and ready to press on with some 'proper' posts.Whilst away I've been thinking quite a bit about the paper from Rebecca Schmidt and colleagues* ........ Read more »

  • July 19, 2012
  • 04:33 AM
  • 964 views

Mouse modeling, immune function and autism

by Paul Whiteley in Questioning Answers

Contrary to the title of this post and any images that it may conjure up of mice parading down a runway in this season's 'hottest looks' whilst pouting to the clicks and flashes of multiple cameras, I'm back to mouse models and autism again(!) and an interesting piece of research by Hsiao and colleagues*.I am kinda standing on the shoulders of giants with this paper given that it comes from the laboratory of Paul Patterson who has already run with a short description about it on his blog (see he........ Read more »

Hsiao EY, McBride SW, Chow J, Mazmanian SK, & Patterson PH. (2012) Modeling an autism risk factor in mice leads to permanent immune dysregulation. Proceedings of the National Academy of Sciences of the United States of America. PMID: 22802640  

  • July 18, 2012
  • 04:39 AM
  • 1,838 views

Anxious children and autism traits?

by Paul Whiteley in Questioning Answers

I'm always been quite intrigued by studies examining the various behaviours linked to autism presenting in other conditions not necessarily linked to autism as a discrete entity. The various studies done on eating disorders* spring to mind as quite a good example.This type of research - when it shows some positive correlation - kinda reiterates that when we talk about autism, we aren't so much talking about a single homogeneous condition, but perhaps rather a range of conditions which share some........ Read more »

van Steensel FJ, Bögels SM, & Wood JJ. (2012) Autism Spectrum Traits in Children with Anxiety Disorders. Journal of autism and developmental disorders. PMID: 22733297  

  • July 13, 2012
  • 07:37 AM
  • 1,654 views

Brain glutathione redox status, Brussels sprouts and autism?

by Paul Whiteley in Questioning Answers

Sprouts, sprouts, sprouts @ WikipediaGlutathione in relation to autism spectrum conditions is a bit of a favourite topic of mine. I've talked about glutathione a few times on this blog (here and here) and how the various reports on a reduced level of functioning of this fantastic part of our antioxidant system seem to show more than a passing connection to cases of autism. That and the fact that consumption of a favourite foodstuff of mine, the Brussels sprout, might have quite a positive influe........ Read more »

  • July 12, 2012
  • 07:20 AM
  • 1,534 views

Autism and the family tree

by Paul Whiteley in Questioning Answers

A blog post discussing the suggestion that a family history of schizophrenia and/or bipolar disorder may be a risk factor for autism... Read more »

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