Posts Tagged: Broader Autistic Phenotype

May 10

Autistics Have A Normally Functioning Mirror Neuron System

I’m not surprised by these results. (I was skeptical of the theory that suggested it wasn’t functioning normally, for various reasons.)

Basically, some people had a theory that autistics had a dysfunction in their mirror neuron system. This evidence is evidence against that theory.

From ScienceDaily

A team of neuroscientists has found that the mirror neuron system, which is thought to play a central role in social communications, responds normally in individuals with autism. Their findings, reported in the journal Neuron, counter theories suggesting that a mirror system dysfunction causes the social difficulties exhibited by individuals with autism.
These results, they conclude, argue strongly against the “dysfunctional mirror system hypothesis of autism” because they show that mirror system areas respond normally in individuals with autism.

The actual paper this is from is: "Normal Movement Selectivity in Autism", by Ilan Dinsteinsend, Cibu Thomas, Kate Humphreys, Nancy Minshew, Marlene Behrmann, and David J. Heeger.

May 10

Aspie Genotype?

AFAIK, no one currently knows what the Aspie genotype is. But it seems some people may have gotten closer to finding it.

From ScienceDaily: "Asperger Syndrome, Autism, And Empathy: Study Links 27 Genes"…

Scientists from the University of Cambridge have identified 27 genes that are associated with either Asperger Syndrome (AS) and/or autistic traits and/or empathy. The research will be published July 16 in the journal Autism Research. This is the first candidate gene study of its kind.

The research was led by Dr Bhismadev Chakrabarti and Professor Simon Baron-Cohen from the Autism Research Centre in Cambridge. 68 genes were chosen either because they were known to play a role in neural growth, social behaviour, or sex steroid hormones (e.g. testosterone and estrogen). The latter group of genes was included because AS occurs far more often in males than females, and because previous research from the Cambridge team has shown that foetal testosterone levels are associated with autistic traits and empathy in typically developing children.
The research found that single nucleotide polymorphisms (SNPs) in 27 out of the 68 genes were nominally associated with either AS and/or with autistic traits/empathy. 10 of these genes (such as CYP11B1) were involved with sex steroid function, providing support for the role of this class of genes in autism and autistic traits. 8 of these genes (such as NTRK1) were involved in neural growth, providing further support to the idea that autism and autistic traits could result from aberrant patterns of connectivity in the developing brain. The other 9 genes (such as OXTR) were involved in social behaviour, shedding light on the biology of social and emotional sensitivity.

From the paper: "Genes related to sex-steroids, neural growth and social-emotional behaviour are associated with autistic traits, empathy and Asperger Syndrome"…

Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

B. Chakrabarti, F. Dudbridge, L. Kent, S. Wheelwright, G. Hill-Cawthorne, C. Allison, S. Banerjee-Basu, S. Baron-Cohen


Genetic studies of autism spectrum conditions (ASC) have mostly focused on the low functioning severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common (1%), and representing one end of a quasi-normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social-emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case-control association study on a sample of people with AS, a high-functioning subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio-responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio-emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate-gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping.

Jan 10

Bill Gates is an Aspie?

I’ve seen and heard it claimed that Bill Gates is an Aspie. I don’t think I’ve ever heard of Bill taking the AQ test or Aspie quiz, let alone posting his results from said tests. So it seems to me that it’s just speculative thus far.

However, there is evidence that is consistent with Bill Gates being an Aspie. Take a look at the following video of Bill rocking back and forth in a business meeting. This is a stereotypical stimming behavior for Aspies.


(H/T Autism Behavior Management)

Jan 10

Aspie Dogs?

Well, maybe not quite an Aspie dog, but canine obsessive compulsiveness seems to be similar to human obsessive compulsiveness.

(Note the usual caveats about them labeling this behavior as a “disorder” where I don’t think that’s accurate, in the layman idea of what a “disorder” is.)

A canine chromosome 7 locus that confers a high risk of compulsive disorder susceptibility has been identified through a collaboration between the Behavior Service at the Cummings School of Veterinary Medicine, the Program in Medical Genetics at the University of Massachusetts Medical School and the Broad Institute at the Massachusetts Institute of Technology. The findings are published in the January 2010 edition of Molecular Psychiatry.

Obsessive compulsive disorder is characterized by time consuming, repetitive behaviors and affects about 2 percent of humans, while the equally distressing canine equivalent, canine compulsive disorder, or CCD, seems to target certain dog breeds, especially Dobermans and Bull Terriers. [...]

The chromosome 7 location most significantly associated with CCD is located within the neural cadherin-2 gene, CDH2. CDH2 is widely expressed, mediating synaptic activity-calcium flux related neuronal adhesion. Dogs showing multiple compulsive behaviors had a higher frequency of the “risk” associated DNA sequence than dogs with a less severe phenotype (60 and 43%, respectively, compared with 22% in unaffected dogs). This highly significant association of CCD with the CDH2 gene region on chromosome 7 is the first genetic locus identified for any animal compulsive disorder, and raises the intriguing possibility that CDH2 and other neuronal adhesion proteins are involved in human compulsive behaviors, including those observed in autism spectrum disorder. [...]

“The CDH2 gene is expressed in the hippocampus, a brain region suspected to be involved in OCD. In addition, this gene oversees structures and processes that are possibly instrumental in propagating compulsive behaviors — for example, the formation and proper functioning of glutamate receptors,” said Dr. Nicholas Dodman, professor of clinical sciences at Cummings School of Veterinary Medicine at Tufts University and the study’s lead author. Dr. Dodman added that “this finding is congruent with current evidence that NMDA blockers are effective in the treatment of OCD.”

The occurrence of repetitive behaviors and similarities in response to drug treatments in both canine CCD and human OCD suggest that common pathways are involved” [...]


Jan 10

Understanding Asperger

It wasn’t too long ago that I started to become familiar with Asperger, Autism, and the Broader Autistic Phenotype. I.e., Aspies.[1] Since then, I’ve been doing a bit of research on the topic.

One thing I keep on seeing though is the labeling of Aspies as “disabled”. When I read about people calling Aspies “disabled”, I feel somewhat dumbfounded. How could you call someone with superior mental abilities “disabled”.

Calling Aspies “disabled” is like calling an Olympic sprinter “disabled” because his running abilities are different than “normal” people. Calling Aspies “disabled” is like calling a body builder “disabled” because his huge muscles make it so he doesn’t fit into “normal” clothing sizes. Aspies have some superior mental abilities, like being more rational than common people and less affected by instincts that many people are affected by.

Now, I do want to say that some Aspies do definitely seem disabled. But many don’t.[2]

I think non-Aspies, or Neurotypicals as they’re often called (which are most the people in the word), really don’t understand what it is like to be an Aspie. So perhaps an analogy would help in understanding what the world is like for Aspies.

Imagine a world where most the people in the world are retarded. Now imagine that every now and then, some of these retarded people have a non-retarded children. Now the non-retarded children don’t behave like all the retarded people in the world. They don’t socialize the same way. (Although they socialize just fine with other non-retarded people.) Also, many mental abilities (like counting, basic mathematics, etc) are trivial for them. They notice things that the retarded people don’t notice. They can figure out things that the retarded people don’t seem capable of. They have interests that the retarded people would never be interested in.

But to the retarded people, these non-retarded people are different. Now imagine that the retarded people call the non-retarded people “disabled”. (Dumbfounding!) Now imagine that you have retarded people telling them that they want to “cure” the non-retarded people, and turn them into retards so they can be like everyone else. (Even more dumbfounding!)

In some ways, it’s like a Forced Eugenics version of “Harrison Bergeron“. Although, that would imply a realization of what Aspies really are. Which I don’t think most these people, who are calling the this a “disability”, have.

Being rational is not a “disability”. Not being as affected by many of the (primitive) instincts most people are affected by, in not a “disability”. Not wanting to make small talk is not a “disability”.

The “rub” is though that, how does a “non-retarded” person explain to the “retarded” people that they are not “disabled” and not only that what they are does not need to be “cured”, but it should not be “cured”.

[1] Note, although technically not correct, many people call people that are classified as having Asperger, Autism or part of the Broader Autistic Phenotype, as “Aspies”. I also tend to do so. Hopefully this will not confuse anyone.

[2] I’d be interested in finding some statistics on how many non-disabled vs disabled[3] Aspies there are. My personal experience and current level of knowledge about being an Aspies tells me that most are not disabled. But it is possible that my experience may not be representative.

[3] I mean “disabled” from an objective perspective, more along the lines of the laymen idea of “disabled”. Having a definition of “disabled” mean essentially, “being different than the norm”, makes it essentially meaningless.

Jan 10

Asperger is NOT a Disability

From Simon Baron-Cohen’s paper “Is Asperger’s syndrome/High-Functioning Autism necessarily a disability?“…

This article considers whether Asperger Syndrome (AS) or high-functioning autism (HFA) necessarily lead to disability or whether AS/HFA simply lead to ‘difference’. It concludes that the term ‘difference’ in relation to AS/HFA is a more neutral, value-free, and fairer description than terms such as ‘impairment’, ‘deficiency’ or ‘disability’; that the term ‘disability’ only applies to the lower functioning cases of autism; but that the term ‘disability’ may need to be retained for AS/HFA as long as the legal framework only provides financial and other support for individuals with a disability.

(Emphasis mine.)

Note this does not imply that no one who is an Aspie is disabled. But claims that one can be an Aspie and not be disabled.