Tuesday, 9 April 2013

IACC and summary of research advances in autism 2012

I'm very much an outsider looking in when it comes to the goings-on at the US Interagency Autism Coordinating Committee (IACC). I'm a Limey working here in Blighty (translation: Brit working in the UK) not in the States and as far as I can see we don't have such an agency here in the UK. Yes, we do have the NICE review which is coming to a close shortly but nothing like the IACC which seems to orchestrate many autism-related activities in the States, including research.

Annually, the IACC produce a summary of autism research which kinda brings together the great and the good of progress in understanding what might constitute autism (the autisms). They've just released the 2012 review of autism research (see here) which contains some interesting studies including those covered on this blog.

A few choice studies and posts are presented for your attention:

Six developmental trajectories.... by Fountain and colleagues.
The branched chain amino acid phenotype.... by Novarino and colleagues.
De novo mutations and paternal age.... by Kong and colleagues.
Kum-ba-arbaclofen... by Berry-Kravis and colleagues.
Wandering.... by Anderson and colleagues.
Mortality.... by Bilder and colleagues.
1 in 88.... by the CDC.

'Nuff said.


  1. I only discovered your blog in February.It is a very good way to keep up with all the research going on.There is a staggering amount going on,and unfortunately most parents and doctors are completely unaware of what is going on.

    Cerebral folate deficiency syndrome with mitochondrial disease as a cause of autism,like I have,is pretty mundane and boring by now,compared to something like BCKDK mutations,or even disorders of pterin metabolism,but even CFDS is something most doctors who see autistics don't know about,let alone parents.You have doctors who see autism as a psychological or behavioral disorder on one hand,and on the other you have parents who see everything caused by vaccines,whose main "treatment" is for yeast,"metals" and "toxins",from the vaccines of course.

    I got here by a combination of both having the dumb luck of finding a doctor who did too many tests,not knowing what most meant,and by doing a ridiculous amount of research on the web figuring out what they meant,and connecting the dots.The last piece of the puzzle came from seeing Dr.Rossignol,from whom I learned the folate stuff was probably secondary to mito.I am now on the waiting list to see Dr.Frye.

    Most children and adults who have these diseases will never be diagnosed.You are fooling yourself if you think the average doctor who treats inborn errors of metabolism knows about this stuff.Most doctors would think teating for this stuff would be excessive,and if a parent or patient asked for them,they would be more inclined to think Munchausen.

    I could have told you decades ago,about the similarities between wandering or eloping,and Alzheimer's.If most people are anything like me,these episodes start with seizures,that trigger temporary dementia,that can last anywhere from from a few minutes to a couple of hours.Then you start to wander,with no idea of where you are or what you are doing.Head banging is also caused by seizures,too.I have four distinct types of seizures.Folinic acid took care of all of them.

    1. Thanks Roger.

      I agree that there is a lot of research going on out there and even for someone who reads regularly PubMed and other research listings, often too much to take in.

      Your point is exceptionally valid on the need to screen for potentially important conditions when a diagnosis of autism is made. Drs Frye and Rossignol have been valiantly publishing (in the peer-reviewed literature) on many, many different aspects which should be considered as potentially important including CFDS. I hark back also to the work of Dr Haroumi Jynouchi et al and the comorbid observations their team have made on issues as diverse as immune function to food-related conditions.

      I do believe there is a small sea-change occurring when it comes to autism; recognising that it is far more than the sum of its clinical triad (soon to be dyad) and the important concept of the autisms (plural). The Novarino paper is an important part of that change in our understanding.


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