New Research Shows How Complex Autism is Turning Out To Be

There is a great article over at Scientific American, titled Autism's Tangled Genetics Full of Rare and Varied Mutations.

The article talks about some recently published research on autism, in which families with only one autistic member were studied for genetic differences.  They found that people with autism tended to have much more genetic mutations.  The most interesting finding, to me anyway, was that the mutations that they found were extremely unique to the individual.

Specifically the SA article states, 

"...new papers, which assessed the genomes of about 1,000 families that had only one autistic child, revealed that the genetic mutations that are likely responsible for the disorder are exceedingly rare—sometimes almost unique to an individual patient. Even some of the most common point of mutations were found in only about 1 percent of autistic children.

This finding means that the number of genes lurking behind autism spectrum disorder (ASD) is at least "in the hundreds," says Matthew State of Yale University's Program on Neurogenetics and co-author of one of the new studies. "That's a significant change from the '90s when it was [thought to be] five to 15." And getting a handle on such rare genetic mutations—even in the growing autistic population—is challenging."

 Which is very interesting from a scientific standpoint, but not so great for anyone looking to understand these disorders better.  It certainly seems the more researchers dig into autism, the complexity of the problem expands exponentially.

The article also had another nice result from the study which attempted to explain the wide disparity between the diagnosis of boys compared to girls in the autism spectrum.  The article explains

"In assessing such a large and diverse data set several of the studies all alighted on a genetic explanation for one of the most striking patterns in ADS: why at least four times as many boys than girls are diagnosed with the disease.

Girls, it seems, might better resist the development of autistic signs: Bigger genetic disruptions are necessary to cause ASD to manifest in girls than in boys, according to the new analyses. Girls might be better protected against autism-causing genetic anomalies, Vitkup suggests, because they tend to have stronger social inclinations than boys.

Although the ability of girls to withstand genetic mayhem might seem to predispose them to become silent carriers of autism, the new analysis shows that mothers were no more likely than fathers to pass on harmful mutations."

This seems surprisingly simple. It is well known that girls are more robust in their development of social and communication skills.  So, the genetic reason for their greater social and communication skills somehow protects girls from the genetic mutations which more easily effect boys.  Is there simply a masking effect because of their greater skill in understanding social situations?  Or is there truly some sort of genetic defense happening in which girls have a higher threshold for genetic mutations cause autism?  It remains to be seen, but this is some very exciting research.

12 year old Physics Genius has Asperger's syndrome

When Jacob Barnett was 3 years old his parent brought him to visit Holcomb Observatory and Planetarium at Butler University.  When the speaker at the planetarium asked the audience why the moons around Mars were potatoe shaped, not round.

Jacob raised his hand and asked "What are the masses of the moons?"

After the researcher explained the masses, Jacob answered the question, that the gravity of the moon was insufficient compared to the gravity of Mars to pull the moon into a spherical configuration.

HE WAS 3 YEARS OLD!

And do you want to know the real head shaker is?  At age 3 Jacob was diagnosed with Asperger's syndrome, an Autism spectrum disorder.  Later is his early life, he was struggling in school, withdrawing and basically having a very tough time.  His parents took him for his third psychological evaluation 2 years ago.

The psychologist recommended a radical change in his schooling.  Instead of making him stay in public school, bored to tears and frustrated, the psychologist recommended that Jacob should receive instruction at the proper level of his knowledge.  He needed to take PhD level classes in math, physics and astrophysics. 

Truly amazing.

Now Jacob is set to start doing research on cosmology and astrophysics.  He has his own questions.  He actually questions the big bang.  He claims to have done a calculation, using big bang nucleosynthesis, of how long it would take to create 2 percent of the universe's carbon.  He finds a value on the order of nanoseconds to microseconds. Much too fast.

I read that he has a youtube video explaining some things about the big bang and some of his own original ideas, but I was unable to find it.

While this is a truly great human interest story, what I find compelling is the Asperger's syndrome portion of the tale.  Let me be clear, he is not a savant.  He has Asperger's syndrome, a well defined medical syndrome. 

It may be well defined, but the whole autism spectrum is so poorly understood.  Many people have many misconceptions about autism in general.  Not every kid with Asperger's or autism is good at math or art or anything really.  Some of them will function very well in society.  Some of them may not ever get to live on their own.  Their brains are fundamentally different than a normal brain for some reason.  I am not even close to an expert on autism or Asperger's.  But I do hold the hope that we can come to better understand the autistic brain through science and medicine.  I really think if we can come to understand how the Autistic brain develops it will lead to great insight into normal brain function and cognitive neuroscience.


This post based on the article by Dan McFeely published in the IndyStar on March 20, 2011.