Scientists Make Incredible New Breakthroughs In Autism Research

Medical researchers have started to zero in on certain gene mutations.

Autism spectrum disorder has long been regarded as a medical mystery. Its causes are unclear and it ranges in severity, making a single line of treatment difficult to develop. 

As it stands, one in 68 children now have autism spectrum disorder: a massive surge since 1975, when the number was one in 5000.

What is known is that the causes are as complex as the disorder itself: combinations of environmental and genetic factors are implicated. Recently, however, important breakthroughs were made. Here's some of what researchers have learned.


Genetic mutations play a role in how the brain is affected.

On December 22, scientists at Columbia University Medical Center published their findings on a study that analyzed nearly 1000 genes to see how individual traits in ASD could be traced back to genetic mutations. 

According to Autism Daily Newscast, the team led by Dr. Dennis Vitkup "identified numerous genes that if mutated would increase the chances of an ASD. The team observed that the severer the mutation, the worse the outcome. They concluded that children with high-functioning autism had only partially mutated genes or milder mutations compared to low-verbal or nonverbal IQ autism persons."

What this means is that severe genetic damage occurring in the brain may be responsible for the more severe, non-verbal forms of autism and that less-severe forms may be due to partial mutations.

Part of autism's "riddle" is that these mutations don't act on any one part of the brain.

Different mutations cause different aspects and symptoms of ASD.

"The idea that eventually all autism mutations would converge onto a single type of neuron or single brain area isn't what we see in the data," Dr. Vitkup was quoted by CUMC as saying. "Instead, an autism mutation usually affects multiple brain areas simultaneously."

Furthermore, they found that the mutations acted on the neurons that control repetitive motions and behaviors: one of the symptoms often found in ASD.

Vitkup’s team also identified a gender bias in ASD.

Autism Daily Newscast writes that Columbia's research confirms that

"women tended to have lesser autism spectrum disorders than their male counterparts, but when they did, it was on the severe side of the spectrum." Part of this has to do with brain activity in gender. CUMC's report on the study says that the "very damaging ASD mutations in girls on average are found in genes that are almost twice as active as typical genes in normal brains."

"These patterns are consistent with the idea that there are mechanisms that protect females," Dr. Vitkup told CUMC. "Most often, only when a mutation hits a highly active gene do we see symptoms in females. Given that the inherent differences in gene activity in male and female brains are typically on the order of a few percent, these findings are quite remarkable."

For our report on one scientist's theory of the culpability of a popular herbicide in the rise of ASD, please click here. For more on Autism Spectrum Disorder, please visit Autism Speaks.


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