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Uncovering a Missing Piece to the Puzzle

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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Posted in Brain and Body 4 years, 6 months ago at 9:16 pm.

4 comments

4 Replies

  1. hwangs Feb 13th 2010

    Great post. Autism is an issue that I have a personal interest in and I loved how you incorporated the autism awareness puzzle symbol in your title.

  2. hwangs Feb 14th 2010

    Also, this is the first time I have heard about Fragile X syndrome and that it causes abnormal brain development. Glad that they are making some progress on autism research.

  3. interestingcases Oct 9th 2010

    Helpful links on youtube: Find videos titled: “Behaviorally Fragile Autistics” and “Looking Back at Severe Autism”. This will take you to channels that show a case of severe autism with self injury that has baffled experts over the years. Interesting.

  4. Carissa Bennett May 30th 2014

    The very first time I had ever heard of Fragile X was when my son at 9 months old was diagnosed, which at the time was very scary and overwhelming especially being I’m his mom and went my whole life not knowing I was a carrier of this gene and passing to my son. I did hours, days, and months researching everything I could possibly find about it and anything I could do to help him do the best he can do. So I quit college and my job and focused all day, everyday teaching and working with him. He is now 6 and a half years old, very high functioning, surpassed everything “they” said he’d never do or be capable of, he’s no longer in special needs classes and attends kindergarten with his peers and is going on to be in 1st grade this coming school year. I couldn’t be more proud!


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