Fragile X Syndrome

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Fragile X Syndrome
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What is Fragile X?

• Fragile X, also known as Martin-Bell
  syndrome, is an X-linked genetic
• disorder. It is the most common
• inherited cause of mental
• impairment and autism.
• Fragile X is carried by 1 in 260 women and 1
  in 800 men. It affects 1 in 4,000 males and 1 in
  6,000 females.

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What causes Fragile X?

• Fragile X is inherited in an unusual pattern.
• The mutation is the amplification if the CGG
  triplet repeat sequence on the Fragile X gene. In
  other words, the triplet sequence is repeated too
  many times.
• When this sequence is repeated too many times,
  the gene is unable to make enough of the protein
  FMRP.

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• A normal gene will have between 5 and 45 repeats.
  A gene with premutation will have between 50 and
  200 repeats. A gene with the full mutation will
  have more than 200 repeats.
• Depending on how many times the triplet code is
  repeated, different amounts of FMRP will be
  produced. Different amounts cause different
  severity levels. The less FMRP you produce, the
  more severe.
• A molecular analysis of a blood sample can be
  used to determine if you are a carrier or contain
  the full Fragile X mutation.

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How is Fragile X inherited?

• Since the gene is carried on the X chromosome,
  both males and females can pass on the gene.
• A father can only pass the gene on to his
  daughters, and even if he has the full mutation
  the daughters will only receive the premutation
  gene.
• A mother can pass the carrier and full mutation
  gene to sons and daughters.

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What does Fragile X look like?

• A full mutation chromosome will look like the top
  picture.
• In the full mutation, all the way at the bottom,
  the promoter region is 12 times longer than the
  normal promoter region.

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What are the symptoms/effects?

• Many people with Fragile X have impaired
  intellectual functioning, which affects their
  ability to think, reason, and learn.
• Some physical signs of Fragile X are long face or
  jaw, more noticeable ears, and flexible joints.
• Many children with Fragile X, especially boys,
  feel a great deal of social anxiety. They also
  tend to be easily upset.
• Language difficulties can range from mild to
  severe. Males with Fragile X may stutter or
  repeat themselves many times.

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Is there treatment?

• Currently there is no single treatment for
  Fragile X.
• Individualized Education Plans are designed and
  include specific goals depending on needs and
  capabilities.
• Speech-language therapists, occupational
  therapists, and behavioral and physical
  therapists work to help individuals with Fragile
  X and their families deal with the symptoms.

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Current Research

• An area of focus for Fragile X research is the
  inheritance patterns of the chromosomal mutation.
  
• Research has found the pathway which is defective
  in Fragile X and drugs are now being developed to
  target this pathway.

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Other Information

• Nearly 20 percent of Fragile X males are silent
  carriers, who are unaffected by the syndrome but
  can pass the Fragile X chromosome to their female
  offspring.
• About one-third of female Fragile X carriers, who
  would be expected to not show symptoms, exhibit
  some symptoms of the disorder.
• 1 in 260 women have the pre-mutation, but many
  will never know.
• Fragile X is not deadly and will not shorten
  lifespan.
• There is a support group called Fragile X
  Syndrome Support Group on Daily Strength, on
  online help site.

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A Fragile X Story

• My son, Ridge Damon, is fifteen years old. 
• He was born with a condition known as Fragile-X
  Syndrome. He has disabilities that hamper his
  ability to interact with other people, plus he
  has some accompanying physical features that are
  hallmarks of the syndrome.
• For example, Ridge is extremely shy when meeting
  new people.  He always has been it is very hard
  for him to make friends.  He's also nervous,
  agitated, and has some nervous habits (hand
  flapping, head shaking, limited eye contact with
  others, and has problems with remembering things
  when introduced to new situations).
• Ridge is in special education classes they are
  working with him to try to improve his behavior
  and socialization skills.  We don't know if it is
  really helping however we are more than willing
  to do anything for our son, to make his life a
  little bit better, not to mention, easier.
• Ridge has some unusual features that make him
  stand out from the crowd  an elongated face. 
  Mental disabilities that make him seem much
  younger than what he truly is (mentally, he
  functions at about a five-to-six year old
  child).  Large, protruding ears.  Flat feet.  Low
  muscle tone.  Smooth skin.  Atypical
  socialization skills (shyness, limited eye
  contact, memory problems, etc.).

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• Sometimes Ridge will get frustrated when learning
  new things that he will go into a rage.  It is
  always very stressful for us (and for him) when
  this happens.  We try everything under our power
  to keep the routine familiar with him we do try
  to introduce change we just do it very slowly
  and over time.  We don't rush headlong into
  things it would only lead to disaster.
• One time, Ridge got so angry he trashed the
  house.  Took us three days to clean up the mess
  he made.  He has a volatile temper it is not
  pleasant!
• Besides the anger issues, Ridge also bites
  himself (hands mostly), or he rocks his body
  until he calms down. 
• Ridge is the only one out of our children who has
  this syndrome.  Our other three children
  (daughters) are all unaffected, although we do
  have a niece who has this (fragile-X is rarer in
  girls than in boys many more males are
  affected).  (She's eight.)  Before our son had
  been born with this disorder, we'd never heard of
  fragile-X.  What we learned was truly
  eye-opening.
• Ridge will always need help with social skills,
  but with therapies or meds to help his behaviors,
  he should do fine.  He will be able to hold a job
  (in a sheltered workshop environment), and he
  will learn to socialize with others in time.  We
  just have to be patient is all.

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Pictures
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Bibliography

• Families and Fragile X Syndrome. Rockville,
  Md. U.S. Dept. of Health and Human
  Services, Public Health Service, National
  Institutes of Health National Institute of
  Child Health and Human Development, 2003. Print.
• Fragile X Syndrome. Web. 21 Jan. 2011.
  lthttp//fragilexsyndrome.blogspot.com/gt.
• "Molecular Analysis of Fragile X Syndrome
  Current Protocols." Current Protocols The Fine
  Art of Experimentation. Web. 21 Jan. 2011.
  lthttp//www.currentprotocols.com/protocol/hg0905gt
  .
•  On the Verge of Breakthrough Treatment. Fraxa
  Research Foundation, 2007. Print.
• What Is Fragile X. Walnut Creek National Fragile
  X Foundation, 2009. Print.