by Kristen Kocher
Researchers at the University of Edinburgh, have recently uncovered that the behavioral disorder, autism, is linked to abnormal brain development caused by Fragile X syndrome. Providing a critical clue into this puzzling disease, this research has begun to demystify the complexities of autism.
To begin unlocking the mysteries of autism, Professor Peter Kind at the University of Edinburgh, began research in an attempt to locate the differences between a normal brain and a brain with Fragile X. Through the use of a mouse model, certain sensory regions of the brain were found to react differently to stimuli, such as touch. Kind and his team believe that these differences may be found in other regions of the brain, which would aid in explaining the effects of Fragile X in patients. This discrepancy, it was also found, is caused by certain irregularities in brain development caused by the Fragile X mutation. Further studies by Kind and his associates also showed that abnormal brain development occurs during development in the womb. The identification of this window of time in which autistic brain development occurs may provide a more tangible and effective option for treatment methods to combat the disease.
Fragile X syndrome affects approximately one in every 4,000 males and one in every 8,000 females around the world and is the leading cause of autism. In terms of genetics, Fragile X is caused by a mutation within a gene sequence of the X chromosome. Autism presents itself in early childhood and is usually identified in a child that slow speak and does not interact with others. Compulsive, ritualistic, self-injury behavior are also characteristic of autism. As a result, this condition severely inhibits an affected individual’s ability to communicate with the outside world, causing numerous social, language and behavioral problems.
In the past, autism has proved difficult to study because it affects the inner workings of the brain without having any visible pathogenesis. In addition, those affected by Fragile X/autism are unable to reveal hints about the disease because they are unable to communicate with others. Therefore, without a fundamental understanding of the disease, treatment and therapy options are extremely limited, making autism a frustrating condition for the individual, the family, and the doctor. However, thanks to the research of Professor Kind and his team, the autism puzzle is one piece closer to being solved.
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