Fragile X Syndrome
I was slightly brain damaged at birth, and I want people like me to see that they shouldn't let a disability get in the way. I want to raise awareness - I want to turn my disability into ability."
Susan Boyle
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Fragile X Syndrome is the most common hereditary cause of Autism.
1 in 4,000 males and 1 in 8,000 females live with Fragile X. Fragile X Syndrome is a hereditary mental disability that occurs when there is a sudden change in the FMR1 gene on the X chromosome. This gene creates proteins necessary for proper brain function. ADD, ADHD, autism and autistic behaviors, language processing disorders, and social anxiety are all possible results of Fragile X Syndrome. We plan to create informative pamphlets, organize marathons, and work with FRAXA Research Foundation to raise awareness for Fragile X Syndrome. In the end, we want to provide more than just awareness, we want to provide hope. |
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Other Resources
These are some other resources you can visit to find out more about Fragile X Syndrome:
FRAXA Research Foundation
FRAXA Research Foundation
- FRAXA Research Foundation aims to learn the specific cause and preventions of Fragile X Syndrome, as well as treating those with the syndrome to the best of their ability. Helping those with disabilities limits inequalities, providing hope and contributing to our mission.
- This source provides detailed information on specific causes of mental disabilities. Their mission is to "Create opportunities for growth and meaningful life choices so that all people can be valued, contributing members of their community," paralleling our mission to limit inequality.
- This source provides statistics on Fragile X Syndrome, as well as connects to the capstone project Fragile X Strong Hope, one of our organization's partners. The tumblr page allows people to receive updates whenever the website is updated.
Articles for Consideration
As with everything, Scientists continue to gather research and data on Fragile X Syndrome. Though its cause is a mutation of the FMR1 gene on the X chromosome, its treatments and relationships with other disabilities and illnesses are constantly changing and varying depending on perspective. Below you will find articles on multiple viewpoints. Note: this website and its creators do not believe in any one view over the other.
This article from Simons Foundation Autism Research Initiative provides an in- depth analysis on the behavioral differences between Autism and Fragile X Syndrome. Overall, this source explains that while children with autism tend to not have any interest in social interactions, children with Fragile X Syndrome do tend to have interest, however they shy away from interaction. Moreover, social anxiety, though a common factor between the two disabilities, may result from different actual brain conditions that vary per syndrome.
This article from Simons Foundation Autism Research Initiative provides an in- depth analysis on the behavioral differences between Autism and Fragile X Syndrome. Overall, this source explains that while children with autism tend to not have any interest in social interactions, children with Fragile X Syndrome do tend to have interest, however they shy away from interaction. Moreover, social anxiety, though a common factor between the two disabilities, may result from different actual brain conditions that vary per syndrome.
- Note from us: How does this help create more equality? In our world today, it is important to understand the differences between these conditions so we can better formulate treatments and be better able to communicate with one another. Though this article contains generalizations, these surveyed results are important to keep in mind.
- Note from us: How does this help create more equality? Throughout researching, new information is necessary to properly treat different conditions. With more advanced treatments and more information, people can better understand what to do to help those with Fragile X Syndrome.
- Note from us: How does this help create more equality? Each piece of information Pediatricians can use to help those with Fragile X Syndrome is one more way they can help. The more help that can be provided to those who need it, the more equal society becomes.
Statistics and Current Trends
The above data chart gives an overview of the brain tissue functioning when one has Fragile X Syndrome. RNA is unable to express the FMR1 and the FMR4 genes; premutations affect around 1 in 151 women and 1 in 468 men. 1 in 4,00 males in the world are born with the full mutation of Fragile X Syndrome.
Statistical data about Fragile X Syndrome:
Statistical data about Fragile X Syndrome:
- Between 2% and 6% have autism caused by the Fragile X gene mutation
- About one out of three children with Fragile X Syndrome also have some degree of autism
- Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability
- According to CDC, the results of Fragile X Syndrome are:
- Males
- Developmental Delay (DD) or Intellectual Disability (ID): 96%
- Attention Problems: 84%
- Anxiety: 70%
- Hyperactivity: 66%
- Autism: 46%
- Self-Injury: 41%
- Aggressiveness: 38%
- Seizures: 18%
- Depression: 12%
- Females
- Attention Problems: 67%
- Developmental Delay or Intellectual Disability: 64%
- Anxiety: 56%
- Hyperactivity: 30%
- Depression: 22%
- Autism: 16%
- Aggressiveness: 14%
- Self-Injury: 10%
- Seizures: 7%
Testimonies and Quotes
Thousands of people live everyday with Fragile X Syndrome. Of all those who suffer, there are thousands more willing to provide support.
Sometimes that support comes from family:
The video linked explains Fragile X Syndrome's affect on Elizabeth Higgins Clark. Throughout her life, she has learned that her brother's disability does not define him, and in no way takes away from his character. She explains:
"In a way, David is my human barometer. I judge the character of others by the way they treat my brother. If you flinch when he flaps his hand, or turn to dismiss him, you will never be close to me. My brother treats everyone he meets with decency and openness, and I want nothing less for him."
Sometimes that support comes from family:
The video linked explains Fragile X Syndrome's affect on Elizabeth Higgins Clark. Throughout her life, she has learned that her brother's disability does not define him, and in no way takes away from his character. She explains:
"In a way, David is my human barometer. I judge the character of others by the way they treat my brother. If you flinch when he flaps his hand, or turn to dismiss him, you will never be close to me. My brother treats everyone he meets with decency and openness, and I want nothing less for him."
DNA Replication
“DNA replication errors that are overlooked during proofreading or fail to be repaired can result in mutations. One category of genetic mutations resulting from replication errors are the triplet repeat diseases. During DNA replication, nucleotides are incorrectly inserted resulting in regions of the DNA structure that consist of copies of three nucleotides. These sections of three nucleotides may be repeated up to fifty times and may increase in subsequent generations. Disease symptoms may appear once the number of repeats has reached a threshold level... fragile X syndrome and Huntington’s disease all fit this pattern.”
http://www.brighthub.com/science/genetics/articles/25824.aspx
http://www.brighthub.com/science/genetics/articles/25824.aspx
