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Brothers, the younger has Fragile-X syndrome.
Brothers, the younger has Fragile-X syndrome.


Medical
Less than 1% of Fragile X Syndrome cases are a result of deletion, neither parent is a carrier.
If a father is the carrier/full mutation, XY, he will pass the mutated gene to all of his daughters, all of his daughters will be carriers.
If the mother is the carrier/full mutation, xX, with each pregnancy she has the possiblity of passing on fragile X as a pre-mutation (carriers) or full-Mutation to every child (male/female). Fragile X syndrome is caused by a change in the FMR1 gene. A small section of the gene code (three letters only -- CGG) is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem.
Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it

  1. How prevalent is the disease in the population (include statistics)?Estimates vary on the prevalence of the fragile X syndrome, but an evaluation of school children in England found a prevalence rate of approximately 1 in 1,000 males with fragile X mental retardation (Webb, 1986). The prevalence of carriers in the general population is approximately 1 in 600 (Sherman, 1992). If a 3 percent prevalence of mental retardation in the general population is used, fragile X syndrome may account for up to 10 percent of mental retardation. It is the most common inherited cause of mental retardation known to exist.
The person will have a family history of Fragile X syndrome (especially a male relative).

  • There are some sypmtoms but may not be noticable for awhile.
  • The following are some

Large head circumference in babies
Mental retardation

Dont learn as fast as others and not keeping up with the levels they should be at
There brain processes stuff at a slowere rate
Dont understand normal classes for children
Lack of curiosity, super shy, dont want to go out of there comfort zone, they avoid eye contact, and dont want to meet or see new people and things
Extremely quiet

There are kind of like different levels. There can be extreme severity of mental retardation, or the only clues might be excess amount of shyness and quietness. In an extreme case, they might have infant like behavoior through there whole entire life. This you can tell in the beginnings of elementary school when the cant keep up with other children and are slow to learn things. With milder cases it sometimes can be very hard to tell. Sometimes the only way to tell is how they act in social situations.

  1. Some other symptoms can be seen in what the children look like
  2. There is small diferences In facial chararistics.
    They have Large noes, Large ears, and a pronimant jaw
How can the disease be treated? There isnt really medical treatment that really cures Fragile X. M aybe the only thing is really pills. There is stuff you can do to help though. When the child goes to school theres special education programms that help them learn in a specific new way. It helps them learn the quickest. ALmost everyschool has a program for kids with disabilitys.
  1. How common is fragile X syndrome? Fragile X is actually really really common. Everywhere they have stuff to help kids with Fragile X. And lots of stuff has adpated to help people with the disease. But for whatever reason Fragile X is more common in males than females. It suposedly shows up on 1 and every 4,000 males and in every 1 and 8,000 females.
7. The help group of IDEA is a group that helps fargile X indivisuals. It helps with planning there full education and basically helps the teens have the the best transition of becoming a young adult. Its not just there group it family members,teachers, and friends. They help the person get a better and more education, maybe help the person geta job and help a buisness. They can also help the indivisual get involved in there community and meet new people and friends.Yet another thing they do is when the person is 16 there start planning on how the person is going to live in the future. They see how independant the person can be to see how much help they will need in the future, and how much they can live on there own.

Symptoms:


  • Hyperactive behavior
  • Large body size
  • Large forehead or ears with a prominent jaw
  • Mental retardation
  • Tendency to avoid eye contact

Personal


  1. What is everyday life like? What is the quality of life?
  2. Month after month, year after frustrating year, Clare Dunsford waited for her son J.P. to talk, to say something, anything that resembled speech. (More, Click on the link above.)

  1. What limitations does the person have?
  2. What are some organizations that can help a family cope with a child's disorder (web links)?
  3. How possible is it that a cure will be found?


Sources**
  • Web links to sources of information.
  • Each group member is responsible for writing a literature review of one web site.

Visit the site below for information to start your research.
Genetics Home Reference

Other information:
Fragile X syndrome

What other names do people use for fragile X syndrome?


  • FRAXA Syndrome
  • fra(X) syndrome
  • FXS
  • Marker X syndrome
  • Martin-Bell Syndrome
  • X-linked mental retardation and macroorchidism
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http://www.tickledorange.com/Art/img/FragileX.jpg



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