Julia brown 3 6 13 3rd period
This presentation is the property of its rightful owner.
Sponsored Links
1 / 20

Julia Brown 3/6/13 3rd Period PowerPoint PPT Presentation


  • 78 Views
  • Uploaded on
  • Presentation posted in: General

Julia Brown 3/6/13 3rd Period. Other Common Names:. FXS Martin-Bell Syndrome Escalante’s Syndrome. - Fragile X Syndrome is caused by an abnormality in the FMR1 gene, located on the X chromosome. The abnormality is an expansion of that gene. An

Download Presentation

Julia Brown 3/6/13 3rd Period

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Julia brown 3 6 13 3rd period

Julia Brown

3/6/13

3rd Period


Other common names

Other Common Names:

FXS

Martin-Bell Syndrome

Escalante’s Syndrome


Julia brown 3 6 13 3rd period

- Fragile X Syndrome is caused by an abnormality in the FMR1 gene, located on the X

chromosome.

The abnormality is an expansion of that gene. An

expansion is when part of the gene is repeated when it

is not supposed to be.

The size of the expansion determines if

the person is only a carrier (meaning they just have the premutation) or if

they show signs of the disorder.


Size of expansion determines how the person is affected

Size of expansion determines how the person is affected

This represents an X chromosome with a normal fragile X gene (unexpanded - up to 60 repeats is considered normal)

An X chromosome with a small expansion of the fragile X gene (60-200 repeats) A person with this chromosome is a carrier and has the premutation.

This X chromosome has a large expansion (over 200 repeats) and is considered a full mutation.


Julia brown 3 6 13 3rd period

Since both males and females have an X

chromosome, either parent can pass this condition

to their children.

However, the gene is usually passed from mother to son.


Target population

Target Population

If a female has the expansion on the FMR1 gene,

she is less likely to be affected because her 2nd X

chromosome can potentially balance out the

effects of the mutated gene.

If a male has the expanded FMR1 gene, the Y

chromosome has no way to counter any of the

mutation’s effects.

1 in 4,000 males affected

1 in 8,000 females affected


Julia brown 3 6 13 3rd period

Since the daughters have a 2nd X chromosome, they are less likely to show effects of Fragile X.

Along with being more likely to get it, males are affected more seriously than females are.


Julia brown 3 6 13 3rd period

The actual cause of the symptoms of fragile X is when the abnormally expanded gene causes it to turn off.

This results in a failure to produce the FMRI1 protien.


Julia brown 3 6 13 3rd period

This failure to produce the FMR1 protein disrupts the nervous system functions


Julia brown 3 6 13 3rd period

  • The nervous system deals a lot with

  • interpreting sensory information,

  • thinking

  • perceiving

  • understanding language

Fragile X syndrome mostly affects the central nervous system, as all of the above are affected by it.

People with fragile x often have cognitive disabilites and developmental delays, which all deal with the nervous system.


Julia brown 3 6 13 3rd period

Symptoms

  • Intellectual disabilities - ranging from mild learning problems to retardation

  • ADHD

  • Anxiety

  • Unstable mood

  • Autism or autistic behaviors

  • hypersensitivity to bright lights or loud sounds

  • Lanugage problems

  • Epilepsy (affects 25% of people with fragile x)

  • Emotional and behavioral problems


Julia brown 3 6 13 3rd period

Physical Symptoms

  • Long face

  • large ears

  • flat feet

  • low muscle tone

  • hyperextensible joints


Julia brown 3 6 13 3rd period

Prognosis

It is best if fragile x is diagnosed early on. This way the affected child can receive the proper special care when it comes to education and development.

People with with fragile x are expected to live normal life spans.


Julia brown 3 6 13 3rd period

Treatments

There are no specific treatments, but rather proper guidance, training, and education can help those affected function as well as possible.


Julia brown 3 6 13 3rd period

Special treatment centers and organizations:


Julia brown 3 6 13 3rd period

"FRAXA's mission is to accelerate progress toward effective treatments and ultimately a cure for Fragile X, by directly funding the most promising research."

  • Founded in 1994

  • Helps by funding grants at universities

  • Runs mainly on volunteers

  • Work to find a cure and to raise awareness


Fragile x research and treatment center

Fragile X Research and Treatment Center

  • At UC Davis and University of Washington in Seattle

  • Funded by the National Institutes of Child Health and Development (NICHD)

  • Studies individuals with fragile x from birth to adulthood


Resources

Resources

Fragile x syndrome. (n.d.). Retrieved from

http://www.fragilex.org/fragile-x-associated-

disorders/fragile-x-syndrome/

Fragile x syndrome. (2013, February 25).

¨

Retrieved from http://ghr.nlm.nih.gov/condition/

fragile-x-syndrome

Fragile x syndrome. (2005, July). Retrieved

from http://www.geneticalliance.org.uk/docs/

translations/english/11-fraxt.pdf


  • Login