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Autism research and other musings

Paul Whiteley
1,226 posts

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  • September 18, 2012
  • 09:17 AM
  • 660 views

XMRV and chronic fatigue syndrome: the results are in...

by Paul Whiteley in Questioning Answers

Drummer boy @ WikipediaDrum roll please maestro.It's been on the horizon for quite a while. The speculation about what will be found, the teaser announcements pinpointing Tuesday 18th September 2012 as the big day, the excitement was building.And finally here it is.The big multi-centre study initiated by the US National Institute of Allergy and Infectious Diseases headed by the Center for Infection and Immunity at Columbia University’s Mailman School of Public Health to once-and........ Read more »

Harvey J. Alter, Judy A. Mikovits, William M. Switzer, Francis W. Ruscetti, Shyh-Ching Lo, Nancy Klimas, Anthony L. Komaroff, Jose G. Montoya, Lucinda Bateman, Susan Levine.... (2012) A Multicenter Blinded Analysis Indicates No Association between Chronic Fatigue Syndrome/Myalgic Encephalomyelitis and either Xenotropic Murine Leukemia Virus-Related Virus or Polytropic Murine Leukemia Virus. mBio. info:/10.1128/​mBio.00266-12

  • September 13, 2012
  • 04:49 AM
  • 1,603 views

MTHFR and autism reloaded

by Paul Whiteley in Questioning Answers

MTHFR @ Paul WhiteleyI've talked before about the enzyme methylenetetrahydrofolate reductase, or MTHFR to its friends, and the suggested link with autism.A few points are worth remembering:MTHFR serves a primary function in reducing the compound 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. On a grander scale, 5-methyltetrahydrofolate, the reduced and methylated form of folic acid, is an important methyl group donor for the recycling of homocysteine back to meth........ Read more »

  • September 11, 2012
  • 06:36 PM
  • 754 views

Gene pathway analysis and autism

by Paul Whiteley in Questioning Answers

"In conclusion, we have developed an accurate diagnostic test for a genetically homogeneous group to aid in early detection of ASD". The big headline to come from this paper by Skafidas and colleagues* (open-access) reporting results based on gene pathway analysis of SNPs previously associated with autism.This is an interesting paper for quite a few different reasons. Primarily it kinda accepts that looking at SNPs alone as being the key to autism is probably not going to be a great idea. I........ Read more »

  • September 10, 2012
  • 05:04 AM
  • 675 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
  • 875 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
  • 761 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
  • 933 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
  • 1,339 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
  • 999 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
  • 921 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
  • 891 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
  • 1,867 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
  • 849 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
  • 1,473 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
  • 1,469 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
  • 2,046 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
  • 2,380 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
  • 845 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
  • 1,317 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
  • 966 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  

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