What We Thought We Knew About Autism and its Cause
In the 1990s, researchers were fairly confident that the cause for autism was five to 15 genetic mutations. Does that sound complicated to you? Such a hypothesized cause for autism would have been easy street compared to what new evidence about the cause for autism has been suggesting, and in a study that was published only this year, it seems scientists are further away from discovering a cause than they previously thought.
Why The Cause for Autism is Complicated
Studies have shown that genetic mutations are involved in the cause for autism. In studies examining autistic children and their developmentally healthy siblings, the children with autism have always had more genetic mutations in their DNA. Mathew State, a co-author of a recently published study on autism and genetics at Yale University, said there at at least hundreds of genes responsible for autism spectrum disorder (ASD). Moreover, there could be more genes which cause autism, and the ways in which these genes cause autism from patient to patient varies. Not only this, but two individuals with autism can have the exact same genetic mutation, but have different intensities of autism than one another. There is a significant amount of information about the cause for autism that we are just figuring out that we do not have. The only consistent pieces of information is that the cause for autism does seem to be genetic, and one gene found to cause or impact autism is also associated with other social disorders.
It’s not as though genetic mutations are the sole cause for autism, however. Though the cause for autism may be traced back to any number of genetic mutations, these genetic mutations in turn effect common networks. However, researchers are now learning that while genetic mutations cause autism, many individuals with autism suffer from vastly different genetic mutations. Furthermore, though researchers know that autism is caused by genetics, it is passed from parent to offspring differently than most genetic diseases or mutations are passed.
Moreover, it is also still a mystery as to why more boys than girls (four times as many) develop autism. It has been observed that it requires more of a genetic abnormality for girls to develop autism than for boys, however, the cause for this is still unknown. While some speculate girls are more social creatures by nature, the exact mechanics and cause for this considerable disparity have yet to be asserted and therefore cannot be adequately used to satisfactorily be applied for the cause of autism in boys and girls. Furthermore, it is inconclusive how correct or relevant the stigma of girls being more socially adapt really is, especially because we lack hard data. In any event, scientists and researchers are obviously missing some very important information.
A Consistent Cause for Autism?
With all of this confusion and mystery surrounding the cause for autism, it is very exciting that researchers have detected a segment of the seventh chromosome is repeated in several cases of autistic patients. How is that relevant and how can you think about it? This particular segment of the seventh chromosome is deleted in patients with a disease that makes them very sociable and extroverted (Williams-Beuren syndrome).
Therefore, the fact that some individuals with autism have this segment deleted means that scientists can be relatively certain of what role this segment of the seventh chromosome plays. Furthermore, this offers some familiar information in an area as confusing and complex as the cause for autism. While this specific genetic mutation is only the cause for a small number of individuals with autism, scientists are thankful to be given this sort of enlightenment. This information is finally something that seems to fit.
Another study focused on a small number of individuals with autism and tracked where and how their genetic mutations interfered with neuronal connections (neurons which communicate and send signals to one another). It was found that some individuals with autism (the study was focused on about a dozen) have neuronal connections which had been interfered by genetic mutations, causing an abnormally high amount of neuronal connections to grow rather than a lower, healthier number. Furthermore, these neuronal connections were found in specific “clusters” which were relatively consistent with a high percent of examined individuals with autism.
What This New Apparent Cause for Autism Means
This new evidence suggests that a cause for autism can be found when genetic mutations interfere with very specific neuronal connections, and as these neuronal connections can be traced, the first steps in a cure for some individuals with autism has been taken. Furthermore, finding these neuronal connections in some individuals with autism means that neuronal connections may be located in other individuals with autism, in different areas. Discovering the interfered with neuronal connections at all means that scientists are on the right track.
Furthermore, the more capable scientists and medical practitioners become with identifying interfered with neuronal connections, the more quickly and adequately this cause for autism can be treated. For example, if scientists can identify what will become a cause for developing autism in a fetus, steps can be taken to ensure an autistic child receives therapy at the youngest age. This advanced therapy can give an individual a much better prognosis in terms of social interaction and building relationships.
If We’re Getting Closer to a Cause, Can We Find a Cure for Autism?
Though we know the cause for autism involves genetic mutations and their effect on neuronal connections, a wide range of genes and proteins effect every individual with autism differently. Developing a cure, such a type of medicine, which could combat such a complicated system will take years more of research. However, scientists are hopeful that as they learn more about the cause for autism and become more comfortable with the interplay of DNA’s vast universe, a cure could theoretically developed.
Harmon, Katherine. “Autism’s Tangled Genetics Full of Rare and Varied Mutations: Scientific American.” Science News, Articles and Information | Scientific American. 2011. Web. 09 June 2011. http://www.scientificamerican.com/article.cfm?id=autism-genetic-mutations.