Autism Study Reveals No Genetic Associations

Autism spectrum disorders (ASD) include everything from the relatively mild Asperger syndrome (characterized by more mild social and language impairments) to full-fledged autism (characterized by severe social and communicative handicaps, limited interests, and repetitive behaviors).  ASD is relatively common, and in the United States it is estimated that one out of every 54 boys is affected (the frequency in girls is considerably lower, averaging one affected girl out of every 252). Although genetics certainly plays a role in these conditions, exactly how is not fully understood, and this newest study, led by Richard Anney (Trinity College of Dublin) and Bernie Devlin (University of Pittsburgh School of Medicine), is the next a long line of scientific inquiries to this point.

Their study, known as the Autism Genome Project (AGP), was conducted in two stages. The first stage of consisted of a genome-wide association study using genetic data from 1400 families affected by autism; the second stage checked the associations discovered in the first stage using the genetic data from an additional 1301 ASD-affected families and included another new genome-wide association study which combined the study subjects from both stages.

When all the analyses were said and done, no SNPs (common genetic variations) were significantly associated with ASD. Furthermore, when some of the SNPs that had been identified in the first study as possibly associated with ASD were tested in the second-stage families, the associations failed to hold up.  This lack of common SNPs associated with ASD is both disappointing and enlightening.

Knowledge of what is not true, paradoxically, is knowledge of what is true.  For instance, if I tell you that my pet Tyger is not a dog, you are one step closer to knowing Tyger’s a cat.  Most of science progresses through “not trues” — the failed hypotheses that bring us closer to real understanding. A perfect example of this mode of scientific progress is this recent genetic study.  Their lack of findings was quite a finding.

The fact that no SNPs were associated with ASD in such a large study suggests that the effect of any one common SNP is quite small. Even when all the SNPs were used together to predict whether a study subject would have ASD, the model explained less than 1% of differences in risk for the condition.

The fact that these common SNPs have little power to predict ASD does not mean that genetics is unimportant.  Twin studies suggest that ASD is at least moderately heritable, suggesting that genetics does play a role.  This current study’s lack of findings supports the idea that common genetic variations may play a smaller role than rare mutations or copy number variation (the number of copies of a given gene) in ASD risk. Thus, the lack of ASD associations today has, hopefully, brought us closer to tomorrow’s discoveries.

via No Genetic Associations Found in Autism GWAS | The Spittoon.

Trying to find the Autism: Theory of Mind

We have had our son tested every few years to see how he is doing/progressing.

I did let the testers know that he had a diagnosis of Autism, but I did not give them the actual tests to look at as I wanted their unbiased assessment on how he was doing at the time of the test.

The past summer (2011) we had him tested by the school district.  They ran all the typical Autism tests, they tested his sensory issues, they even tested his cognitive abilities this time as he was able to read and could get more thorough testing than in previous years.  They then decided to test his speech as well.  We had a total of 5 appointments to complete the variety of tests.

About a week or so after the last test we had the results appointment.  They found that his mispronunciation of the letter “L” was not age appropriate and he qualified for 1 hour per week of speech to address this.


Ok and………?   Nothing.  No autism.  No Pdd.  No Aspergers.  Not on the spectrum.  No part time in the Special needs classroom.  No aid or shadow.  Nothing.

There are a lot of parents who claim their child is recovered and I do not make that claim as I can still see a few things that make him look slightly different from his peers (some slight oddness in the way his arms move when he runs, some precocious language, and a sporadically his tone is, well, odd).  So recovered? No, but is there any Autism?

Well another parents mentioned the Sally and Ann test for theory of mind, so I did this with him, fully expecting him to fail.  He passed.  He passed both what is she thinking and what does he think she is thinking.  Wow!

I decided to go a bit further this past week and really see if I could find the Autism.

I searched online and found a variety of links for theory of mind sample tests and questions.  I read him all the questions I could find. In all he took 5 tests and he passed he missed all of 2 questions.  He got questions correct that were labeled as memory (of course this is to be expected as it has always been his strong suit), TOM1, TOM2, and TOM4.

Now these were just internet sample test given by his Mom, but I tend to be hard.  I did not give him any clues or repeat options when he got one wrong.  I was really looking for some measure to go by to watch these last skills come online.  See we started by using the ATEC (his first score was132), when he scored 0 on that we went to the child brain pdd test.  he started in the 70’s on that test.  When that went to 0 I had nothing else to use, this is what prompted me to look for these TOM questions.  Now I am just at a loss.

I can see the Autism in his slight oddness of posture and word/phrase selection, but I can’t seem to get a handle on anything else.

Could that really be all we have left to address………………………?  I suppose only time will tell.

Battelle Scientists Identify Potential Early Biomarker for Autism Spectrum Disorder

synthesis equation for porphyrins

synthesis equation for porphyrins (Photo credit: Wikipedia)

Battelle Scientists Identify Potential Early Biomarker for Autism Spectrum Disorder.

What is most interesting to me about this article is that porphyrins are also used to diagnose heavy metal toxicity.

Urinary porphyrins testing is a medically recognized way to test for mercury.  There are specific porphyrinsthat spill for mercuryand specific ones that spill for lead.

  • Precoproporphyrin = mercury toxicity. You will not have any levels of Preco unless you have been exposed to mercury.
  • Precoproporphyrin/Uroporphyrin ratio >2 = mercury toxicity
  • Coproporphyrin elevated compared to % Precoproporhyrin  elevation = another metal present like arsenic or lead
  • Elevated Precoproporhyrin/Uroporphyrin = means mercury is the dominant metal
  • Precoproporhyrin/Coproporphyrin ratio lower than reference range when Coproporphyrin is elevated=either lead or arsenic is present

So science is caught once again proving a connection between autism and heavy metal toxicity, but ever so carefully sidestepping the issue of a direct relationship that might actually assist parents in getting the help they need.

Good thing this is something we can do ourselves.